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
EYA2	2139	broad.mit.edu	37	20	45644860	45644860	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:45644860G>C	ENST00000327619.5	+	5	713	c.339G>C	c.(337-339)caG>caC	p.Q113H	EYA2_ENST00000317304.6_Missense_Mutation_p.Q113H|EYA2_ENST00000357410.3_Missense_Mutation_p.Q113H	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	113					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCCCTGGCCAGAGTGGATTCC	0.537000													40	94					0	0	0.009718	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713296	142713296	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:142713296G>A	ENST00000369381.2	-	0	1309																											AGGTCGTTTGGAGAGTTTCTA	0.343000													10	18					0	0	0.008291	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534654	37534654	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:37534654C>T	ENST00000299824.1	+	7	928	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCAGCTGAGCTCCTCCTGGA	0.592000													19	63					0	0	0.008871	0	0
CUX1	1523	broad.mit.edu	37	7	101925179	101925179	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:101925179C>T	ENST00000437600.4	+	21	2215	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Silent_p.F623F|CUX1_ENST00000547394.2_Silent_p.F607F|CUX1_ENST00000393824.3_Silent_p.F584F|CUX1_ENST00000425244.2_Silent_p.F577F	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCGGCTTCTTCTACACACTGT	0.652000													7	38					0	0	0.006214	0	0
OR13C2	392376	broad.mit.edu	37	9	107367574	107367574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:107367574C>A	ENST00000542196.1	-	1	377	c.335G>T	c.(334-336)tGt>tTt	p.C112F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAGAAGCACACACTCTGTTGT	0.517000													12	57					1.15088e-07	1.41244e-07	0.004007	1	0
MEFV	4210	broad.mit.edu	37	16	3304331	3304331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:3304331G>T	ENST00000219596.1	-	2	776	c.737C>A	c.(736-738)aCc>aAc	p.T246N	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	246					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGTAGAAATGGTGACCTCAAG	0.607000													49	143					6.08268e-21	9.15078e-21	0.003610	1	0
ACAD9	28976	broad.mit.edu	37	3	128598589	128598589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:128598589G>A	ENST00000308982.7	+	1	136	c.55G>A	c.(55-57)Ggt>Agt	p.G19S		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	19						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCCTGCCGGGGTCTGGTGGT	0.632000													30	58					0	0	0.010818	0	0
MYBPH	4608	broad.mit.edu	37	1	203139527	203139527	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:203139527C>A	ENST00000255416.4	-	7	1042	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	329	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATGATGAGGTCAGAGATGGTG	0.597000													14	35					1.5842e-08	2.03174e-08	0.001855	1	0
CPSF1	29894	broad.mit.edu	37	8	145625613	145625613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:145625613G>A	ENST00000349769.3	-	9	978	c.884C>T	c.(883-885)cCg>cTg	p.P295L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	295					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACGCCATACGGGGGGACGCT	0.672000													3	27					0	0	0.009096	0	0
OR6K2	81448	broad.mit.edu	37	1	158669631	158669631	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:158669631C>A	ENST00000359610.2	-	1	855	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGCTATATCCCAGAACAAAGA	0.423000													9	22					0.00621372	0.00658603	0.006214	1	0
ROBO3	64221	broad.mit.edu	37	11	124743700	124743700	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:124743700T>A	ENST00000397801.1	+	11	1918	c.1726T>A	c.(1726-1728)Tgg>Agg	p.W576R	ROBO3_ENST00000538940.1_Missense_Mutation_p.W554R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	576	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TACCCTGACCTGGAAGCCCAA	0.537000													4	24					0	0	0.009096	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141310572	141310572	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:141310572T>A	ENST00000389328.4	-	11	2072	c.2058A>T	c.(2056-2058)aaA>aaT	p.K686N	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.K579N|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.K588N	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	588					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCTACCTATTTTCTTGTTCC	0.448000													26	52					0	0	0.003954	0	0
DAGLA	747	broad.mit.edu	37	11	61502413	61502413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:61502413G>T	ENST00000257215.5	+	10	1183	c.1067G>T	c.(1066-1068)cGc>cTc	p.R356L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	356					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCATCCGGCGCCACTTCCTG	0.627000													68	156					2.69673e-31	4.16694e-31	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77775895	77775895	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:77775895G>C	ENST00000521891.2	+	11	10393	c.9945G>C	c.(9943-9945)ctG>ctC	p.L3315L	ZFHX4_ENST00000518282.1_Silent_p.L3289L|ZFHX4_ENST00000455469.2_Silent_p.L3270L|ZFHX4_ENST00000050961.6_Silent_p.L3266L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGTGCACTGTTgcagcagt	0.542000										HNSCC(33;0.089)			8	16					0	0	0.003080	0	0
PLA1A	51365	broad.mit.edu	37	3	119327669	119327669	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:119327669C>A	ENST00000488919.1	+	0	165				PLA1A_ENST00000273371.4_Missense_Mutation_p.R110S|PLA1A_ENST00000494440.1_Missense_Mutation_p.R94S|PLA1A_ENST00000495992.1_Missense_Mutation_p.R110S	NM_001206961.1	NP_001193890.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A						lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACCCTTCTGCGTGCAACGAA	0.433000													27	107					1.2476e-16	1.82341e-16	0.006320	1	0
LRP1B	53353	broad.mit.edu	37	2	141571371	141571371	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:141571371T>A	ENST00000389484.3	-	32	6185	c.5214A>T	c.(5212-5214)ctA>ctT	p.L1738L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1738					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTATCGATAGACCTGTAA	0.343000										TSP Lung(27;0.18)			12	34					0	0	0.001855	0	0
MS4A3	932	broad.mit.edu	37	11	59831757	59831757	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:59831757C>T	ENST00000278865.3	+	4	390	c.317C>T	c.(316-318)tCt>tTt	p.S106F	MS4A3_ENST00000534744.1_Missense_Mutation_p.S60F|MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.S60F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	106						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGAACCTTGTCTGTTGTAGCA	0.363000													4	45					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103496791	103496791	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:103496791G>C	ENST00000358392.2	-	5	978	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	COL11A1_ENST00000512756.1_Missense_Mutation_p.Q221E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q221E|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q221E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	221	TSP N-terminal.				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.Q221K(2)		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)		AAAAACTGCTGAATGTCCCCC	0.403000													6	12					0	0	0.001984	0	0
RAD51B	5890	broad.mit.edu	37	14	68878244	68878244	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:68878244G>A	ENST00000487270.1	+	9	1005	c.957_splice	c.e9+1	p.Q319_splice	RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Splice_Site_p.Q319_splice|RAD51B_ENST00000471583.1_Splice_Site_p.Q319_splice|RAD51B_ENST00000488612.1_Splice_Site_p.Q319_splice|RAD51B_ENST00000390683.3_Splice_Site_p.Q319_splice	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	319					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGACAGGTGGGTGCTT	0.493000								Direct reversal of damage					6	31					0	0	0.001984	0	0
NBR1	4077	broad.mit.edu	37	17	41341637	41341637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:41341637G>C	ENST00000422280.1	+	8	972	c.513G>C	c.(511-513)gaG>gaC	p.E171D	NBR1_ENST00000590996.1_Missense_Mutation_p.E171D|NBR1_ENST00000589872.1_Missense_Mutation_p.E171D|NBR1_ENST00000389312.4_Missense_Mutation_p.E171D|NBR1_ENST00000341165.6_Missense_Mutation_p.E171D|NBR1_ENST00000542611.1_Missense_Mutation_p.E150D	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	171					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AAACGGTTGAGAAGCTTGAAC	0.393000													24	46					0	0	0.002780	0	0
CORO2A	7464	broad.mit.edu	37	9	100893318	100893318	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:100893318C>G	ENST00000343933.5	-	7	1046	c.789G>C	c.(787-789)atG>atC	p.M263I	CORO2A_ENST00000375077.4_Missense_Mutation_p.M263I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	263					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTCCTCCTCCATCAGAGGCA	0.632000													9	5					0	0	0.004482	0	0
SORBS1	10580	broad.mit.edu	37	10	97099020	97099020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:97099020G>T	ENST00000371247.2	-	29	2924	c.2735C>A	c.(2734-2736)aCa>aAa	p.T912K	SORBS1_ENST00000353505.5_Missense_Mutation_p.T763K|SORBS1_ENST00000277982.5_Missense_Mutation_p.T934K|SORBS1_ENST00000371227.4_Missense_Mutation_p.T866K|SORBS1_ENST00000393949.1_Missense_Mutation_p.T882K|SORBS1_ENST00000354106.3_Missense_Mutation_p.T882K|SORBS1_ENST00000306402.6_Missense_Mutation_p.T659K|SORBS1_ENST00000371249.2_Missense_Mutation_p.T694K|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1172K|SORBS1_ENST00000371245.3_Missense_Mutation_p.T763K|SORBS1_ENST00000347291.4_Missense_Mutation_p.T724K|SORBS1_ENST00000361941.3_Missense_Mutation_p.T912K|SORBS1_ENST00000371239.1_Missense_Mutation_p.T689K|SORBS1_ENST00000371241.1_Missense_Mutation_p.T562K|SORBS1_ENST00000371246.2_Missense_Mutation_p.T934K			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	912	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTGTCGGGATGTCCCCGGGAT	0.552000													26	79					1.66031e-10	2.25327e-10	0.003954	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36358981	36358981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:36358981C>A	ENST00000312412.4	-	6	709	c.710G>T	c.(709-711)cGc>cTc	p.R237L	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82L																kidney(1)|lung(3)	4						AACAGGTGTGCGGGCAAACTT	0.353000													40	157					8.16277e-20	1.22442e-19	0.006999	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960758	73960758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:73960758G>C	ENST00000373468.1	-	3	4285	c.3634C>G	c.(3634-3636)Cct>Gct	p.P1212A	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1212A			Q5QGS0	K2022_HUMAN	KIAA2022	1212					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTTGCCAGGTGGTTTTTCA	0.473000													19	14					0	0	0.006122	0	0
LRIT2	340745	broad.mit.edu	37	10	85984376	85984376	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:85984376C>A	ENST00000372113.4	-	2	610	c.605G>T	c.(604-606)tGg>tTg	p.W202L	LRIT2_ENST00000538192.1_Missense_Mutation_p.W202L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	202	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTCACATACCCAGGGGTTGTC	0.567000													17	44					1.15088e-07	1.41244e-07	0.004007	1	0
ADAT3	113179	broad.mit.edu	37	19	1913115	1913115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:1913115G>T	ENST00000329478.2	+	2	1289	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	ADAT3_ENST00000602400.1_Nonsense_Mutation_p.E341*|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	341					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTGCTGGAGGAGCAGTG	0.751000													3	6					6.4e-05	7.28143e-05	0.004672	1	0
KRT79	338785	broad.mit.edu	37	12	53225407	53225407	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:53225407G>A	ENST00000330553.5	-	2	515	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	161	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAGGAACCGCACCTGAGCC	0.617000													12	36					0	0	0.001855	0	0
UBC	7316	broad.mit.edu	37	12	125397905	125397905	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:125397905T>C	ENST00000536769.1	-	1	1989	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.Q138R|UBC_ENST00000538617.1_Missense_Mutation_p.Q138R			P0CG48	UBC_HUMAN	ubiquitin C	138	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGACTCTTTCTGGATGTTGTA	0.557000													39	109					0	0	0.003610	0	0
LOC399815	399815	broad.mit.edu	37	10	124648214	124648214	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:124648214C>A	ENST00000425266.1	+	0	266																											CACCACCAAGCCTGATGAAGG	0.413000													8	1					5.4927e-09	7.11555e-09	0.004482	1	0
ITGB8	3696	broad.mit.edu	37	7	20445751	20445751	+	Silent	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:20445751A>G	ENST00000222573.3	+	12	2664	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S	ITGB8_ENST00000537992.1_Silent_p.S525S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	660					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAAAACCTCATGTGCTCTCA	0.413000													12	27					0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94038350	94038350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:94038350G>C	ENST00000553484.1	+	15	2020	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	UNC79_ENST00000555664.1_Missense_Mutation_p.E622D|UNC79_ENST00000256339.4_Missense_Mutation_p.E445D|UNC79_ENST00000393151.2_Missense_Mutation_p.E622D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	622						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGTCTGGGAGTGTATTATGC	0.438000													11	27					0	0	0.001855	0	0
BRSK2	9024	broad.mit.edu	37	11	1467069	1467069	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:1467069C>T	ENST00000308219.9	+	12	1544	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	BRSK2_ENST00000528710.1_Silent_p.L326L|BRSK2_ENST00000526678.1_Silent_p.L386L|BRSK2_ENST00000528841.1_Silent_p.L386L|BRSK2_ENST00000544817.1_Silent_p.L81L|BRSK2_ENST00000308230.5_Silent_p.L386L|BRSK2_ENST00000382179.1_Silent_p.L432L|BRSK2_ENST00000531197.1_Silent_p.L386L	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	386					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGAGGTGCTCAGCGTGACGG	0.687000													17	36					0	0	0.004990	0	0
ZNF671	79891	broad.mit.edu	37	19	58231901	58231901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:58231901C>T	ENST00000317398.6	-	4	1648	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	ZNF671_ENST00000335820.3_Missense_Mutation_p.R420Q|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTCTGTTTCCGGATGAATTC	0.498000													113	137					0	0	0.003610	0	0
UNC5A	90249	broad.mit.edu	37	5	176305048	176305048	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:176305048C>G	ENST00000329542.4	+	11	2063	c.1789C>G	c.(1789-1791)Ctg>Gtg	p.L597V	UNC5A_ENST00000261961.3_Missense_Mutation_p.L557V	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	597					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGCTGCTTCTGTTTGCGCC	0.652000													18	30					0	0	0.010504	0	0
LNX1	84708	broad.mit.edu	37	4	54347901	54347901	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:54347901T>G	ENST00000306888.2	-	6	1434	c.1183A>C	c.(1183-1185)Agc>Cgc	p.S395R	LNX1_ENST00000263925.7_Missense_Mutation_p.S491R|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	491	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGTGTTGCTCCTCTCCCCT	0.597000													11	25					0	0	0.010729	0	0
MUC2	4583	broad.mit.edu	37	11	1093566	1093566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:1093566C>A	ENST00000359061.5	+	32	5253	c.5253C>A	c.(5251-5253)acC>acA	p.1751_1751insT	MUC2_ENST00000333592.6_Silent_p.T83T|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000441003.2_Silent_p.T1795T			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccatcaccaccacaactacGG	0.587000													10	12					0.000442599	0.000485157	0.006214	1	0
A2ML1	144568	broad.mit.edu	37	12	9021196	9021196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:9021196C>A	ENST00000299698.7	+	32	4305	c.4125C>A	c.(4123-4125)ttC>ttA	p.F1375L	A2ML1_ENST00000539547.1_Missense_Mutation_p.F884L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1219						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TATCTGGGTTCAGTCCCATGG	0.413000													23	67					1.96895e-08	2.494e-08	0.002780	1	0
WDR70	55100	broad.mit.edu	37	5	37392113	37392113	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:37392113A>G	ENST00000265107.4	+	4	343	c.187A>G	c.(187-189)Aaa>Gaa	p.K63E	WDR70_ENST00000504564.1_Missense_Mutation_p.K63E	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	63										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAGAGAAAAAGAGGAAGA	0.303000													11	68					0	0	0.010729	0	0
TRGV4	6977	broad.mit.edu	37	7	38393526	38393526	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:38393526G>T	ENST00000390345.2	-	0	477																											GGATGTAGCCGGTACTTCCTT	0.507000													20	58					2.4624e-09	3.23071e-09	0.008871	1	0
ADAM18	8749	broad.mit.edu	37	8	39502856	39502856	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:39502856G>T	ENST00000265707.5	+	11	954		c.e11-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTATTTTAGTATCCAGATG	0.279000													37	27					3.33393e-15	4.7774e-15	0.004878	1	0
ALX1	8092	broad.mit.edu	37	12	85674209	85674209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:85674209C>A	ENST00000316824.3	+	1	325	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	57					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GGACCCCTGCCCCGCGCCGAG	0.657000													13	45					0.000219431	0.000245247	0.002450	1	0
LPPR4	9890	broad.mit.edu	37	1	99771292	99771292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:99771292C>A	ENST00000370185.3	+	7	1515	c.1018C>A	c.(1018-1020)Cac>Aac	p.H340N	LPPR4_ENST00000370184.1_Missense_Mutation_p.H182N|LPPR4_ENST00000457765.1_Missense_Mutation_p.H282N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		340							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATGTTTCAGCACAGAGACGC	0.448000													28	79					1.80694e-10	2.44581e-10	0.009535	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268915	30268915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:30268915G>T	ENST00000378981.3	+	4	626	c.305G>T	c.(304-306)aGc>aTc	p.S102I	MAGEB1_ENST00000397550.1_Missense_Mutation_p.S102I|MAGEB1_ENST00000397548.2_Missense_Mutation_p.S102I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	102										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCCACTGAGAGCTCAGTCAAA	0.483000													8	4					1.06961e-07	1.32539e-07	0.003080	1	0
CACNA1E	777	broad.mit.edu	37	1	181452944	181452944	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:181452944A>T	ENST00000526775.1	+	1	229	c.64A>T	c.(64-66)Agc>Tgc	p.S22C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.S22C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S22C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S22C|CACNA1E_ENST00000358338.5_5'UTR|CACNA1E_ENST00000357570.5_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	22					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCGGACCAGAGCAGGAACCG	0.637000													21	53					0	0	0.008871	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391923	3391923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:3391923C>T	ENST00000324266.5	+	2	724	c.529C>T	c.(529-531)Ccg>Tcg	p.P177S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.P177S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	177							binding										CGGCTTCGAGCCGCAGATGGT	0.731000													4	13					0	0	0.000602	0	0
WDR36	134430	broad.mit.edu	37	5	110430633	110430633	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:110430633C>G	ENST00000506538.2	+	2	919	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V	WDR36_ENST00000505303.1_Missense_Mutation_p.L60V|WDR36_ENST00000513710.2_Missense_Mutation_p.L116V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	116					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GAAACTTAGTCTGGTTGCAGT	0.274000													5	8					0	0	0.001168	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147249	26147249	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:26147249C>G	ENST00000331351.5	+	2	1443	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	351					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCCCTCTCCCAGATCCTCTT	0.532000													26	106					0	0	0.003954	0	0
OR6N1	128372	broad.mit.edu	37	1	158736070	158736070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:158736070G>T	ENST00000335094.2	-	1	422	c.403C>A	c.(403-405)Ctc>Atc	p.L135I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGGGTCATGAGGGTTGGGTAG	0.517000													9	27					0.00829132	0.00873398	0.008291	1	0
CFHR2	3080	broad.mit.edu	37	1	196928125	196928125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:196928125C>A	ENST00000367415.4	+	5	842	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.S243Y	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	243	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTTTGTAAATCTGGATATCAT	0.313000													12	36					5.50884e-06	6.43743e-06	0.001368	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958025	57958025	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:57958025C>G	ENST00000311591.3	+	1	120	c.63C>G	c.(61-63)ctC>ctG	p.L21L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTGAACATCTCCAGTGGAGGG	0.488000													9	46					0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92495040	92495040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:92495040G>T	ENST00000298047.6	+	4	3705	c.3688G>T	c.(3688-3690)Ggt>Tgt	p.G1230C	FAT3_ENST00000525166.1_Missense_Mutation_p.G1080C|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.G1230C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1230	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGATGGTGGTCCCTCTCC	0.418000										TCGA Ovarian(4;0.039)			43	115					3.54909e-21	5.35495e-21	0.011902	1	0
CSMD3	114788	broad.mit.edu	37	8	113562942	113562942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:113562942C>A	ENST00000297405.5	-	27	4766	c.4522G>T	c.(4522-4524)Gat>Tat	p.D1508Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1508	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAAATCCGTGTCAAAC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	27					0.00116845	0.00126726	0.001168	1	0
FOXA2	3170	broad.mit.edu	37	20	22563390	22563390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:22563390C>A	ENST00000419308.2	-	2	674	c.472G>T	c.(472-474)Gca>Tca	p.A158S	FOXA2_ENST00000377115.4_Missense_Mutation_p.A158S|FOXA2_ENST00000319993.4_Missense_Mutation_p.A164S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	158					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCTTTGCGTGCGTGTAG	0.627000													34	81					8.4185e-14	1.19301e-13	0.012213	1	0
RYR3	6263	broad.mit.edu	37	15	34030787	34030787	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:34030787A>G	ENST00000389232.4	+	50	7722	c.7652A>G	c.(7651-7653)cAt>cGt	p.H2551R	RYR3_ENST00000415757.3_Missense_Mutation_p.H2551R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2551	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGCTCTCCCATAAGGTAATG	0.478000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	0.002450	0	0
CFHR4	10877	broad.mit.edu	37	1	196879571	196879571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:196879571C>A	ENST00000367416.2	+	6	1094	c.957C>A	c.(955-957)tgC>tgA	p.C319*	CFHR4_ENST00000367418.1_Nonsense_Mutation_p.C73*|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACATTCACTGCACACAAGATG	0.418000													16	10					6.31663e-08	7.86512e-08	0.003163	1	0
KDM4E	390245	broad.mit.edu	37	11	94759337	94759337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:94759337C>A	ENST00000450979.2	+	1	916	c.616C>A	c.(616-618)Ccc>Acc	p.P206T		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	206	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CTTTGGGGAGCCCAAAACTTG	0.562000													16	66					5.01169e-05	5.72606e-05	0.004990	1	0
MC4R	4160	broad.mit.edu	37	18	58038732	58038732	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:58038732A>T	ENST00000299766.3	-	1	1269	c.851T>A	c.(850-852)tTt>tAt	p.F284Y		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	284					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ATACAAGTTAAAGTGAGACAT	0.408000													10	32					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179642677	179642677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:179642677T>C	ENST00000589042.1	-	25	4458	c.4234A>G	c.(4234-4236)Agg>Ggg	p.R1412G	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1412G|TTN_ENST00000342175.6_Missense_Mutation_p.R1366G|TTN_ENST00000591111.1_Missense_Mutation_p.R1412G|TTN_ENST00000342992.6_Missense_Mutation_p.R1412G|TTN_ENST00000359218.5_Missense_Mutation_p.R1366G|TTN_ENST00000460472.2_Missense_Mutation_p.R1366G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1412	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGGAGACCTGCTCACTGAA	0.478000													8	29					0	0	0.003080	0	0
FIP1L1	81608	broad.mit.edu	37	4	54257292	54257292	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:54257292A>G	ENST00000507166.1	+	8	622	c.622A>G	c.(622-624)Aca>Gca	p.T208A	FIP1L1_ENST00000306932.6_Missense_Mutation_p.T193A|FIP1L1_ENST00000358575.5_Missense_Mutation_p.T193A|FIP1L1_ENST00000337488.6_Missense_Mutation_p.T208A|FIP1L1_ENST00000507922.1_Missense_Mutation_p.T193A			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	208	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACCTCTACTACAAATAAAAT	0.353000			T	PDGFRA	idiopathic hypereosinophilic syndrome								40	91					0	0	0.007835	0	0
NCAPG2	54892	broad.mit.edu	37	7	158483362	158483362	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:158483362C>T	ENST00000409339.3	-	5	548	c.435G>A	c.(433-435)caG>caA	p.Q145Q	NCAPG2_ENST00000449727.2_Silent_p.Q145Q|NCAPG2_ENST00000409423.1_Silent_p.Q145Q|NCAPG2_ENST00000356309.3_Silent_p.Q145Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	145					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CACACAAATCCTGAATAGAAC	0.398000													10	46					0	0	0.006214	0	0
NCOA4	8031	broad.mit.edu	37	10	51584703	51584703	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:51584703A>C	ENST00000452682.1	+	9	1102	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	NCOA4_ENST00000443446.1_Missense_Mutation_p.S268R|NCOA4_ENST00000430396.2_Missense_Mutation_p.S168R|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.S268R|NCOA4_ENST00000374082.1_Missense_Mutation_p.S268R|NCOA4_ENST00000414907.2_Missense_Mutation_p.S102R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S268R|NCOA4_ENST00000438493.1_Missense_Mutation_p.S284R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	268					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGAAAAATCAAGTTATCAAAA	0.403000			T	RET	papillary thyroid								19	58					0	0	0.010504	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055542	72055542	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:72055542C>T	ENST00000555818.1	+	2	1301	c.953C>T	c.(952-954)tCa>tTa	p.S318L	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S318L|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S318L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	318					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATAACCGATCAGAAGACTCT	0.413000													15	47					0	0	0.002450	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408726	197408726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:197408726C>A	ENST00000273582.5	-	16	2581	c.2036G>T	c.(2035-2037)tGt>tTt	p.C679F	KIAA0226_ENST00000389665.5_Missense_Mutation_p.C749F|KIAA0226_ENST00000296343.5_Missense_Mutation_p.C724F	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	724					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCGGATGCCACATCCTGCACA	0.597000													8	41					0.000442599	0.000485157	0.006214	1	0
HCN4	10021	broad.mit.edu	37	15	73615942	73615942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:73615942G>T	ENST00000261917.3	-	8	3485	c.2492C>A	c.(2491-2493)tCc>tAc	p.S831Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	831					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGATCAGGGACTGCAGCCG	0.677000													17	45					3.41278e-10	4.54742e-10	0.004990	1	0
TMEM30B	161291	broad.mit.edu	37	14	61747148	61747148	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:61747148G>A	ENST00000555868.1	-	1	1410	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	TMEM30B_ENST00000355702.2_Missense_Mutation_p.P240S|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	240						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GTGTTGTTGGGGTCGGGGCTG	0.692000													17	41					0	0	0.004007	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960982	73960982	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:73960982T>A	ENST00000373468.1	-	3	4061	c.3410A>T	c.(3409-3411)cAg>cTg	p.Q1137L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1137L			Q5QGS0	K2022_HUMAN	KIAA2022	1137					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATATGGAACTGAAACTGGTG	0.418000													25	21					0	0	0.003330	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304976	67304976	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:67304976C>T	ENST00000299798.11	+	16	2619	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	852					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGCCGCTCTCGCAGTGAGAG	0.662000													12	58					0	0	0.010729	0	0
OR13C5	138799	broad.mit.edu	37	9	107361360	107361360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:107361360C>A	ENST00000374779.2	-	1	428	c.335G>T	c.(334-336)tGt>tTt	p.C112F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGAAGCACACACTCTGTTGT	0.517000													11	59					1.67942e-08	2.14313e-08	0.006122	1	0
HSPA2	3306	broad.mit.edu	37	14	65007679	65007679	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:65007679A>T	ENST00000247207.6	+	1	494	c.112A>T	c.(112-114)Acc>Tcc	p.T38S	HSPA2_ENST00000394709.1_Missense_Mutation_p.T38S|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	38					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GGGCAATCGCACCACCCCCAG	0.637000													16	52					0	0	0.003163	0	0
SENP2	59343	broad.mit.edu	37	3	185347616	185347616	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:185347616A>T	ENST00000296257.5	+	17	1994	c.1754A>T	c.(1753-1755)cAt>cTt	p.H585L	SENP2_ENST00000545472.1_Missense_Mutation_p.H575L|SENP2_ENST00000427465.2_Missense_Mutation_p.H409L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	585					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAAATCCTTCATCAGCAGTTG	0.468000													25	41					0	0	0.006320	0	0
ULK1	8408	broad.mit.edu	37	12	132401562	132401562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:132401562G>T	ENST00000321867.4	+	21	2488	c.2137G>T	c.(2137-2139)Gac>Tac	p.D713Y		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	713					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.D713Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACAAGCCCCGGACCCGGGCAG	0.677000													21	43					1.9806e-07	2.41916e-07	0.002299	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113601626	113601626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:113601626G>T	ENST00000358160.4	+	6	979	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	163						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGGTGCCAGGGATAGAAGTTA	0.343000													15	60					1.05317e-09	1.38889e-09	0.002450	1	0
FAM47B	170062	broad.mit.edu	37	X	34960964	34960964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:34960964C>A	ENST00000329357.5	+	1	52	c.16C>A	c.(16-18)Cca>Aca	p.P6T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	6								p.P6L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACCGGAGGCCACAGGACCG	0.627000													10	4					2.74318e-10	3.67429e-10	0.006214	1	0
SLC16A10	117247	broad.mit.edu	37	6	111498613	111498613	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:111498613C>T	ENST00000368851.5	+	3	862	c.687C>T	c.(685-687)ggC>ggT	p.G229G	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	229					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		ACAGCGTGGGCCTCTTTTACA	0.483000													26	57					0	0	0.004656	0	0
NEB	4703	broad.mit.edu	37	2	152470789	152470789	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:152470789C>A	ENST00000427231.2	-	77	11804		c.e77+1		NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000604864.1_Splice_Site|NEB_ENST00000397345.3_Splice_Site|NEB_ENST00000409198.1_Splice_Site	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCCACTCACATCACTCTGC	0.463000													20	56					0.000958276	0.00104595	0.007413	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148989191	148989191	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:148989191C>T	ENST00000333677.6	+	4	554	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	131	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCCTTGCTACTGGTGGACAC	0.552000													24	37					0	0	0.002299	0	0
PRKD1	5587	broad.mit.edu	37	14	30100164	30100164	+	Missense_Mutation	SNP	C	C	A	rs142868862		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:30100164C>A	ENST00000331968.5	-	10	1685	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W	PRKD1_ENST00000415220.2_Missense_Mutation_p.G494W	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	486	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATTGGCCCCATTAGGAATT	0.358000													17	50					1.99824e-07	2.43491e-07	0.004990	1	0
RIMBP2	23504	broad.mit.edu	37	12	130921588	130921588	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:130921588G>A	ENST00000261655.4	-	10	2017	c.1854C>T	c.(1852-1854)caC>caT	p.H618H	RIMBP2_ENST00000535703.1_Silent_p.H526H|RIMBP2_ENST00000536002.1_Silent_p.H526H	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	618	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATCCTGGCGTGGGGACCCA	0.662000													14	18					0	0	0.001855	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189058	26189058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:26189058T>C	ENST00000340756.2	-	1	246	c.247A>G	c.(247-249)Aca>Gca	p.T83A		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	83					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TCCATGGCTGTGACTGTCTTG	0.532000													23	87					0	0	0.003954	0	0
ANO6	196527	broad.mit.edu	37	12	45803164	45803164	+	Silent	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:45803164A>G	ENST00000320560.8	+	16	2107	c.1905A>G	c.(1903-1905)cgA>cgG	p.R635R	ANO6_ENST00000441606.2_Silent_p.R617R|ANO6_ENST00000435642.1_Silent_p.R635R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.R656R|ANO6_ENST00000425752.2_Silent_p.R635R	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	635					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAATTGGGCGATTTCACAGAG	0.378000													20	39					0	0	0.012319	0	0
ZNF676	163223	broad.mit.edu	37	19	22363214	22363214	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:22363214G>A	ENST00000397121.2	-	3	1622	c.1305C>T	c.(1303-1305)agC>agT	p.S435S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTCAGTAAGGCTTGAGGACC	0.438000													34	34					0	0	0.003271	0	0
CCP110	9738	broad.mit.edu	37	16	19548127	19548127	+	Missense_Mutation	SNP	G	G	T	rs146335974		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:19548127G>T	ENST00000396212.2	+	5	1572	c.1136G>T	c.(1135-1137)cGt>cTt	p.R379L	CCP110_ENST00000396208.2_Missense_Mutation_p.R379L|CCP110_ENST00000381396.5_Missense_Mutation_p.R379L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	379	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CACCGAAGACGTTCCAGGACA	0.363000													6	13					2.7689e-08	3.49003e-08	0.001984	1	0
PARP2	10038	broad.mit.edu	37	14	20811820	20811820	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:20811820G>A	ENST00000527915.1	+	1	25	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	PARP2_ENST00000250416.5_Missense_Mutation_p.R7Q|RPPH1_ENST00000554988.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.R7Q			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	7					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CGGCGGCGACGGAGCACCGGC	0.672000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	41					0	0	0.008361	0	0
GH1	2688	broad.mit.edu	37	17	61995762	61995762	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:61995762C>G	ENST00000323322.5	-	2	157	c.115G>C	c.(115-117)Gct>Cct	p.A39P	GH1_ENST00000458650.2_Missense_Mutation_p.A39P|GH1_ENST00000351388.4_Missense_Mutation_p.A39P|GH1_ENST00000342364.4_Missense_Mutation_p.A39P|CSHL1_ENST00000392824.4_Intron	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	39					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.A39T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CGGAGCATAGCGTTGTCAAAA	0.597000													106	91					0	0	0.003610	0	0
CLIP4	79745	broad.mit.edu	37	2	29404730	29404730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:29404730G>T	ENST00000320081.5	+	16	2344	c.2089G>T	c.(2089-2091)Ggg>Tgg	p.G697W	CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.G697W	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	697										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGGAATTAATGGGTCAAAACT	0.373000													32	48					1.99505e-19	2.96656e-19	0.012213	1	0
NLRP14	338323	broad.mit.edu	37	11	7091676	7091676	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:7091676A>T	ENST00000299481.4	+	11	3481	c.3135A>T	c.(3133-3135)ctA>ctT	p.L1045L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1045					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTGTAAACTACAAGTTCTAG	0.398000													9	19					0	0	0.008291	0	0
NPY1R	4886	broad.mit.edu	37	4	164246538	164246538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:164246538C>A	ENST00000296533.2	-	3	1603	c.1072G>T	c.(1072-1074)Gat>Tat	p.D358Y	NPY1R_ENST00000509586.1_Missense_Mutation_p.D115Y	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	358					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGAAACATCTGTGTGCATC	0.368000													30	49					5.45727e-16	7.88614e-16	0.008361	1	0
HTR3A	3359	broad.mit.edu	37	11	113857651	113857651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:113857651G>T	ENST00000504030.2	+	8	1466	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	HTR3A_ENST00000355556.2_Missense_Mutation_p.A379S|HTR3A_ENST00000375498.2_Missense_Mutation_p.A347S|HTR3A_ENST00000299961.5_Missense_Mutation_p.A326S|HTR3A_ENST00000506841.2_Missense_Mutation_p.A373S|HTR3A_ENST00000535865.1_Missense_Mutation_p.A85S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	341					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCGTGCCTGCTTGGCTGCG	0.587000													13	40					7.03913e-09	9.07304e-09	0.001368	1	0
LRP1B	53353	broad.mit.edu	37	2	141283476	141283476	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:141283476G>T	ENST00000389484.3	-	49	8934	c.7963C>A	c.(7963-7965)Cca>Aca	p.P2655T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2655	LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCAGGTTGGCAGAACACAC	0.403000										TSP Lung(27;0.18)			7	35					8.12818e-05	9.20477e-05	0.001984	1	0
PCDH8	5100	broad.mit.edu	37	13	53421705	53421705	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr13:53421705G>T	ENST00000377942.3	-	1	1070	c.867C>A	c.(865-867)acC>acA	p.T289T	PCDH8_ENST00000338862.4_Silent_p.T289T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	289	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCTCCGGCGGGGTGCGGGCGC	0.716000													4	4					0.00024832	0.000275732	0.009096	1	0
PLEC	5339	broad.mit.edu	37	8	145006189	145006189	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:145006189C>A	ENST00000322810.4	-	18	2674	c.2505G>T	c.(2503-2505)gcG>gcT	p.A835A	PLEC_ENST00000354589.3_Silent_p.A698A|PLEC_ENST00000436759.2_Silent_p.A725A|PLEC_ENST00000345136.3_Silent_p.A698A|PLEC_ENST00000527096.1_Silent_p.A721A|PLEC_ENST00000356346.3_Silent_p.A684A|PLEC_ENST00000354958.2_Silent_p.A676A|PLEC_ENST00000357649.2_Silent_p.A702A|PLEC_ENST00000398774.2_Silent_p.A666A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	835	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTGCAGGGCCGCCTGGAAGG	0.711000													15	18					3.27435e-08	4.10695e-08	0.002450	1	0
CACNA1F	778	broad.mit.edu	37	X	49067064	49067064	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:49067064G>T	ENST00000376265.2	-	38	4565	c.4504C>A	c.(4504-4506)Cga>Aga	p.R1502R	CACNA1F_ENST00000376251.1_Silent_p.R1437R|CACNA1F_ENST00000323022.5_Silent_p.R1491R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1502					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CAGGCCACTCGGTGTGGGCAC	0.617000													5	11					2.0095e-06	2.37528e-06	0.001984	1	0
OR2A14	135941	broad.mit.edu	37	7	143826647	143826647	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:143826647T>C	ENST00000408899.2	+	1	497	c.442T>C	c.(442-444)Tgg>Cgg	p.W148R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTGGCTTCCTGGGTGTTCAG	0.537000													57	203					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70841741	70841741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:70841741G>T	ENST00000393567.2	-	86	15258	c.15108C>A	c.(15106-15108)taC>taA	p.Y5036*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5036										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATTATGCTGTACCCGGCTC	0.532000													13	64					3.27435e-08	4.10695e-08	0.002450	1	0
MEP1A	4224	broad.mit.edu	37	6	46802344	46802344	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:46802344C>A	ENST00000230588.4	+	12	1648	c.1639C>A	c.(1639-1641)Ccg>Acg	p.P547T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	547	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTGGGACAGGCCGTCCAGGGT	0.433000													13	42					6.81908e-15	9.71719e-15	0.002450	1	0
OR14K1	343170	broad.mit.edu	37	1	247902064	247902064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:247902064G>T	ENST00000283225.2	+	1	148	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CATGATTCTGGACCATCGTCT	0.473000													16	71					0.000422831	0.000466479	0.004007	1	0
FOXF2	2295	broad.mit.edu	37	6	1391291	1391291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:1391291G>C	ENST00000259806.1	+	1	1223	c.1109G>C	c.(1108-1110)aGc>aCc	p.S370T		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	370					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGCACTCCAGCATGTCCTCC	0.692000													3	10					0	0	0.004672	0	0
PKD1L2	114780	broad.mit.edu	37	16	81190642	81190642	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:81190642G>T	ENST00000525539.1	-	0	3946				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCGAAGAAAGTGAGGTGGTT	0.572000													3	14					0.004672	0.00496219	0.004672	1	0
HDAC9	9734	broad.mit.edu	37	7	18633640	18633640	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:18633640C>T	ENST00000406451.3	+	6	793	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	HDAC9_ENST00000441542.2_Missense_Mutation_p.L218F|HDAC9_ENST00000428307.2_Missense_Mutation_p.L215F|HDAC9_ENST00000406072.1_Missense_Mutation_p.L246F|HDAC9_ENST00000405010.3_Missense_Mutation_p.L215F|HDAC9_ENST00000401921.1_Missense_Mutation_p.L218F|HDAC9_ENST00000456174.2_Missense_Mutation_p.L187F|HDAC9_ENST00000524023.1_Missense_Mutation_p.L182F|HDAC9_ENST00000417496.2_Missense_Mutation_p.L257F|HDAC9_ENST00000432645.2_Missense_Mutation_p.L215F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	215	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATTTCCCCCTTCGAAAAAC	0.433000													27	53					0	0	0.004656	0	0
VSIG1	340547	broad.mit.edu	37	X	107320544	107320544	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:107320544C>T	ENST00000415430.3	+	8	1366	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	VSIG1_ENST00000217957.5_Missense_Mutation_p.P366L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	366						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						gagccagagccagagtcagag	0.537000													24	20					0	0	0.003330	0	0
PREX1	57580	broad.mit.edu	37	20	47269243	47269243	+	Splice_Site	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:47269243C>T	ENST00000396220.1	-	21	2370	c.2346_splice	c.e21-1	p.G783_splice	PREX1_ENST00000371941.3_Splice_Site_p.G783_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	783					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			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)			CTGGTACAGGCCCTGCCAGAA	0.652000													14	30					0	0	0.002450	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856432	62856432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:62856432C>A	ENST00000584306.1	-	11	4362	c.3832G>T	c.(3832-3834)Gct>Tct	p.A1278S	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255S|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278S|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396S|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1278						integral to membrane		p.A1278T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAAATAGCGTGGGTTAAG	0.453000													46	33					6.60958e-23	1.00317e-22	0.003610	1	0
HOXD10	3236	broad.mit.edu	37	2	176983859	176983859	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:176983859G>A	ENST00000249501.4	+	2	1178	c.923G>A	c.(922-924)aGg>aAg	p.R308K	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	308						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTCACCGACAGGCAGGTCAAG	0.488000													19	72					0	0	0.007413	0	0
MGAM	8972	broad.mit.edu	37	7	141797445	141797445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:141797445A>T	ENST00000475668.2	+	66	7799	c.7745A>T	c.(7744-7746)tAc>tTc	p.Y2582F	MGAM_ENST00000549489.2_Missense_Mutation_p.Y1686F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1686					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGATTACTACACGGTAAGT	0.408000													11	39					0	0	0.010729	0	0
ASTN1	460	broad.mit.edu	37	1	176913026	176913026	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:176913026C>A	ENST00000367654.2	-	14	2415		c.e14+1		ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site			O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCACACTCACCAGTCAGGAA	0.502000													5	22					2.0095e-06	2.37528e-06	0.001984	1	0
CLEC4F	165530	broad.mit.edu	37	2	71036473	71036473	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:71036473A>G	ENST00000272367.2	-	7	1776	c.1700T>C	c.(1699-1701)aTt>aCt	p.I567T	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	567	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						AGAATTCACAATAATATACTT	0.532000													9	38					0	0	0.004482	0	0
UNC45A	55898	broad.mit.edu	37	15	91479205	91479205	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:91479205A>T	ENST00000394275.2	+	6	1033	c.198A>T	c.(196-198)gcA>gcT	p.A66A	UNC45A_ENST00000418476.2_Silent_p.A81A|UNC45A_ENST00000553671.2_3'UTR	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	81					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAACAGAGGCATCCAAAGGTA	0.562000													11	52					0	0	0.001368	0	0
MYH15	22989	broad.mit.edu	37	3	108102450	108102450	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:108102450C>G	ENST00000273353.3	-	41	5874	c.5818G>C	c.(5818-5820)Ggg>Cgg	p.G1940R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1940						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTTTTTCCCAAACTCTCTT	0.363000													18	69					0	0	0.004990	0	0
POTEF	728378	broad.mit.edu	37	2	130877775	130877775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:130877775C>A	ENST00000357462.5	-	1	407	c.314G>T	c.(313-315)tGc>tTc	p.C105F	POTEF_ENST00000409914.2_Missense_Mutation_p.C105F|POTEF_ENST00000360967.5_Missense_Mutation_p.C105F|POTEF_ENST00000361163.4_Missense_Mutation_p.C105F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	105						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGGGGAAGCAGTGGCAGCA	0.602000													32	164					8.72198e-27	1.34366e-26	0.003610	1	0
CORIN	10699	broad.mit.edu	37	4	47663847	47663847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:47663847C>A	ENST00000273857.4	-	12	1615	c.1616G>T	c.(1615-1617)cGc>cTc	p.R539L	CORIN_ENST00000502252.1_Missense_Mutation_p.R472L|CORIN_ENST00000505909.1_Missense_Mutation_p.R502L|CORIN_ENST00000508498.1_Missense_Mutation_p.R400L|CORIN_ENST00000504584.1_Missense_Mutation_p.R502L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	539	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGACTCACAGCGTTCTTTAGA	0.418000													9	25					2.74318e-10	3.67429e-10	0.006214	1	0
XIRP2	129446	broad.mit.edu	37	2	168103167	168103167	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:168103167G>A	ENST00000409195.1	+	9	5354	c.5265G>A	c.(5263-5265)ttG>ttA	p.L1755L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1755L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1533L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1580					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGGAGCTTTGGATTATCTGA	0.383000													12	37					0	0	0.010729	0	0
PRR16	51334	broad.mit.edu	37	5	120021742	120021742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:120021742A>G	ENST00000379551.2	+	3	541	c.184A>G	c.(184-186)Agt>Ggt	p.S62G	PRR16_ENST00000505123.1_Missense_Mutation_p.S15G|PRR16_ENST00000446965.1_Missense_Mutation_p.S15G|PRR16_ENST00000407149.2_Missense_Mutation_p.S85G	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	85										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TAGTAGCTCAAGTGGCACAAC	0.532000													23	30					0	0	0.003330	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182622	140182622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:140182622G>A	ENST00000522353.2	+	1	1840	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G614R|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCTGGGACCGGCGG	0.687000													25	43					0	0	0.006320	0	0
ATP10A	57194	broad.mit.edu	37	15	25925388	25925388	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:25925388T>C	ENST00000356865.6	-	20	3857	c.3746A>G	c.(3745-3747)aAt>aGt	p.N1249S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1249					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACAAGACGCATTGTAAATCAA	0.483000													28	62					0	0	0.005443	0	0
C4orf46	201725	broad.mit.edu	37	4	159592889	159592889	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:159592889G>A	ENST00000379205.4	-	1	309	c.65C>T	c.(64-66)tCt>tTt	p.S22F	C4orf46_ENST00000508836.1_Intron|C4orf46_ENST00000508457.1_Missense_Mutation_p.S22F	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	22										kidney(1)|lung(3)|skin(1)	5						GGCGTCTGAAGAGGAGGGAGA	0.667000													5	11					0	0	0.000602	0	0
ZNF682	91120	broad.mit.edu	37	19	20116914	20116914	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:20116914G>A	ENST00000397165.2	-	4	1557	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZNF682_ENST00000358523.5_Missense_Mutation_p.S434L|ZNF682_ENST00000595736.1_Missense_Mutation_p.S390L|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.S472L|ZNF682_ENST00000397162.1_Missense_Mutation_p.S434L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTAAGATGTGAGCACCGTTT	0.378000													13	25					0	0	0.001368	0	0
RING1	6015	broad.mit.edu	37	6	33179629	33179629	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:33179629C>T	ENST00000374656.4	+	6	1177	c.969C>T	c.(967-969)gcC>gcT	p.A323A	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	323	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGGGGGCGCCTCTGACACCG	0.687000													12	32					0	0	0.010729	0	0
RNF10	9921	broad.mit.edu	37	12	121009089	121009089	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:121009089G>T	ENST00000325954.4	+	14	2598	c.2137G>T	c.(2137-2139)Gcc>Tcc	p.A713S	RNF10_ENST00000413266.2_Missense_Mutation_p.A718S|RNF10_ENST00000542701.1_Intron	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	713					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTTCCTTTGCCCAGGTAAA	0.512000													36	79					1.36161e-19	2.03647e-19	0.004289	1	0
KCNU1	157855	broad.mit.edu	37	8	36766980	36766980	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:36766980T>C	ENST00000399881.3	+	21	2295	c.2258T>C	c.(2257-2259)tTc>tCc	p.F753S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	753						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			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)		GACATAGTGTTCATTGGGTCT	0.448000													24	531					0	0	0.002780	0	0
C1orf94	84970	broad.mit.edu	37	1	34666628	34666628	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:34666628T>C	ENST00000488417.1	+	3	1385	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P	C1orf94_ENST00000373374.3_Missense_Mutation_p.L232P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	232							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGCCGGAGCTGAAATGTGAG	0.577000													3	7					0	0	0.004672	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161376	55161376	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:55161376C>T	ENST00000257290.5	+	23	3538	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D	FIP1L1_ENST00000507166.1_Silent_p.D829D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1069	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCATTGAAGACATCGACATGA	0.542000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	91					0	0	0.004656	0	0
ROR1	4919	broad.mit.edu	37	1	64608317	64608317	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:64608317T>A	ENST00000371079.1	+	7	1533	c.1158T>A	c.(1156-1158)tgT>tgA	p.C386*	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Nonsense_Mutation_p.C386*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	386	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CTGATCTGTGTGACATCCCAG	0.448000													9	32					0	0	0.006214	0	0
NLRP7	199713	broad.mit.edu	37	19	55451463	55451463	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:55451463G>A	ENST00000588756.1	-	6	1210	c.724C>T	c.(724-726)Cta>Tta	p.L242L	NLRP7_ENST00000328092.5_Silent_p.L242L|NLRP7_ENST00000446217.1_Silent_p.L270L|NLRP7_ENST00000448121.2_Silent_p.L242L|NLRP7_ENST00000592784.1_Silent_p.L242L|NLRP7_ENST00000590030.1_Silent_p.L242L|NLRP7_ENST00000340844.2_Silent_p.L242L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	242	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTTGGGCTAGGATGCTTGGA	0.567000													58	64					0	0	0.003610	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900970	28900970	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:28900970C>T	ENST00000528584.1	+	0	191					NR_036443.1																						TTCCCCGACTCCGAGAACCCT	0.602000													18	25					0	0	0.007413	0	0
ARID4B	51742	broad.mit.edu	37	1	235384974	235384974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:235384974C>A	ENST00000264183.3	-	14	1566	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E357*|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E357*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	357	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTCCACTTTCAATCTAATGG	0.289000													9	28					2.80697e-09	3.66407e-09	0.010729	1	0
TRPA1	8989	broad.mit.edu	37	8	72958765	72958765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:72958765G>T	ENST00000262209.4	-	17	2251	c.2044C>A	c.(2044-2046)Ccg>Acg	p.P682T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	682						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTGTAAGCGGTTCATATATA	0.274000													15	47					3.45872e-05	3.9783e-05	0.004007	1	0
SMG6	23293	broad.mit.edu	37	17	2196257	2196257	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:2196257C>A	ENST00000544865.1	-	5	2583	c.2073G>T	c.(2071-2073)ttG>ttT	p.L691F	SMG6_ENST00000263073.5_Missense_Mutation_p.L722F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	722					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGCACTGATCAAGGCATATT	0.443000													19	62					9.7654e-05	0.000110345	0.007413	1	0
KLHL6	89857	broad.mit.edu	37	3	183273205	183273205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:183273205G>T	ENST00000341319.3	-	1	272	c.237C>A	c.(235-237)gaC>gaA	p.D79E		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	79	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATTCCTGAATGTCCACACACA	0.507000													27	93					4.87955e-14	6.9341e-14	0.005443	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896504	89896504	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:89896504C>A	ENST00000534061.1	+	10	1332	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	NAALAD2_ENST00000321955.4_Silent_p.R335R|NAALAD2_ENST00000525171.1_Silent_p.R275R|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	368	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R368W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGAGGTCACCGGGACTCCTG	0.368000													29	81					2.08457e-15	3.00389e-15	0.010818	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180246	57180246	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:57180246G>A	ENST00000504228.1	+	6	683	c.578G>A	c.(577-579)tGc>tAc	p.C193Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.C193Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.C186Y			Q6ZU35	K1211_HUMAN	KIAA1211	193										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGTCGGCCCTGCCTGGACCAG	0.542000													29	59					0	0	0.008361	0	0
STAC	6769	broad.mit.edu	37	3	36422206	36422206	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:36422206A>T	ENST00000273183.3	+	1	371	c.71A>T	c.(70-72)cAa>cTa	p.Q24L	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.Q24L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	24					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCGCCGAGCAACCGCCCTCT	0.677000													5	11					0	0	0.001984	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379055	114379055	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:114379055A>G	ENST00000312719.5	-	5	1595	c.407T>C	c.(406-408)aTt>aCt	p.I136T	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.I136T			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	136					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATACCACTCAATGCCCTTACC	0.413000													27	61					0	0	0.003954	0	0
GAD1	2571	broad.mit.edu	37	2	171700615	171700615	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:171700615G>C	ENST00000358196.3	+	7	1249	c.699G>C	c.(697-699)atG>atC	p.M233I	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	233					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTAAGAAGATGAGAGAGATAG	0.373000													6	26					0	0	0.001984	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307923	39307923	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:39307923G>T	ENST00000541347.1	-	2	317	c.78C>A	c.(76-78)atC>atA	p.I26I	CX3CR1_ENST00000358309.3_Silent_p.I58I|CX3CR1_ENST00000542107.1_Silent_p.I26I|CX3CR1_ENST00000399220.2_Silent_p.I26I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	26					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAAAGACCACGATGTCCCCAA	0.473000													10	25					3.86212e-05	4.42247e-05	0.008291	1	0
DENND3	22898	broad.mit.edu	37	8	142161011	142161011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:142161011C>T	ENST00000519811.1	+	6	884	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	DENND3_ENST00000424248.1_Missense_Mutation_p.H192Y|DENND3_ENST00000262585.2_Missense_Mutation_p.H192Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	192	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGACCTTCACCTGCCCTT	0.602000													38	127					0	0	0.005524	0	0
FYN	2534	broad.mit.edu	37	6	112021338	112021338	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:112021338C>G	ENST00000354650.3	-	9	1437	c.831G>C	c.(829-831)ctG>ctC	p.L277L	FYN_ENST00000368678.4_Intron|FYN_ENST00000368667.2_Silent_p.L277L|FYN_ENST00000356013.2_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Intron|FYN_ENST00000538466.1_Intron	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	277	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCCCATTTCCCAGTCTCTTGA	0.468000													33	86					0	0	0.004289	0	0
DMD	1756	broad.mit.edu	37	X	31947798	31947798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:31947798G>A	ENST00000357033.4	-	47	7033	c.6827C>T	c.(6826-6828)cCc>cTc	p.P2276L	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2272L|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR	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	2276					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			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)				TACAAGCACGGGTCCTCCAGT	0.413000													5	24					0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20295782	20295782	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:20295782C>T	ENST00000568211.1	+	1	175	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	OR4N2_ENST00000315947.1_Missense_Mutation_p.L59F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L59V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACAGCCCCCCTCTATTTCTT	0.463000													67	185					0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196716381	196716381	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:196716381C>T	ENST00000367429.4	+	22	3874	c.3634C>T	c.(3634-3636)Cac>Tac	p.H1212Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1212	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCACGTTCTCACACATTGCG	0.393000													13	45					0	0	0.004990	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291040	141291040	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:141291040G>A	ENST00000247452.3	-	3	1081	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	245	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCCTCAGAGGCACAGTT	0.522000										HNSCC(46;0.14)			53	37					0	0	0.003610	0	0
TMEM108	66000	broad.mit.edu	37	3	133099203	133099203	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:133099203C>A	ENST00000515826.1	+	3	771	c.648C>A	c.(646-648)atC>atA	p.I216I	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.I216I|TMEM108_ENST00000393130.3_Silent_p.I216I			Q6UXF1	TM108_HUMAN	transmembrane protein 108	216						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGGGAAAATCTTTCAGATCT	0.602000													15	36					1.5739e-10	2.14736e-10	0.004007	1	0
TPTE	7179	broad.mit.edu	37	21	10944712	10944712	+	Silent	SNP	G	G	A	rs143624380	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr21:10944712G>A	ENST00000298232.7	-	10	835	c.468C>T	c.(466-468)gtC>gtT	p.V156V	TPTE_ENST00000361285.4_Silent_p.V174V|TPTE_ENST00000342420.5_Silent_p.V136V|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	174					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGTAAACGACATCAACCA	0.279000													17	144					0	0	0.006122	0	0
COLEC12	81035	broad.mit.edu	37	18	346704	346704	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:346704G>A	ENST00000400256.3	-	5	1125	c.918C>T	c.(916-918)gcC>gcT	p.A306A		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	306					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTGCTCGTTGGCTTGAGAGA	0.493000													21	29					0	0	0.010504	0	0
OR6N1	128372	broad.mit.edu	37	1	158736071	158736071	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:158736071G>T	ENST00000335094.2	-	1	421	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGGTCATGAGGGTTGGGTAGT	0.517000													9	27					0.00829132	0.00873398	0.008291	1	0
LRP1B	53353	broad.mit.edu	37	2	141283475	141283475	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:141283475G>C	ENST00000389484.3	-	49	8935	c.7964C>G	c.(7963-7965)cCa>cGa	p.P2655R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2655	LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCAGGTTGGCAGAACACA	0.408000										TSP Lung(27;0.18)			7	35					0	0	0.001984	0	0
MKI67	4288	broad.mit.edu	37	10	129899921	129899921	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:129899921T>C	ENST00000368654.3	-	14	9681	c.9306A>G	c.(9304-9306)gaA>gaG	p.E3102E	MKI67_ENST00000368653.3_Silent_p.E2742E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3102			E -> G (in dbSNP:rs34750407).		cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTATTTGCTGTTCTGCCTCAG	0.378000													12	75					0	0	0.001855	0	0
ZNF131	7690	broad.mit.edu	37	5	43175188	43175188	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:43175188G>C	ENST00000509634.1	+	7	2179	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q	ZNF131_ENST00000505606.2_Missense_Mutation_p.E575Q|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.E609Q|ZNF131_ENST00000399534.1_Missense_Mutation_p.E609Q|ZNF131_ENST00000306938.4_Missense_Mutation_p.E575Q			P52739	ZN131_HUMAN	zinc finger protein 131	609						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTCTGAAGCAGAAAAGGCAGA	0.418000													8	20					0	0	0.003080	0	0
OFD1	8481	broad.mit.edu	37	X	13775793	13775793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:13775793G>T	ENST00000380567.1	+	15	1878	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S	OFD1_ENST00000340096.6_Missense_Mutation_p.A476S|OFD1_ENST00000380550.3_Missense_Mutation_p.A436S|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	476					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGCTCAGCCGGCTCCTGAACT	0.403000													14	8					4.3838e-07	5.29151e-07	0.001855	1	0
PFKFB2	5208	broad.mit.edu	37	1	207240959	207240959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:207240959C>T	ENST00000367080.3	+	9	872	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PFKFB2_ENST00000411990.2_Missense_Mutation_p.R152C|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R217C|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R64C|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R250C	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	250	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CGTCCAGCCTCGCACCATTTA	0.512000													33	73					0	0	0.003271	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093875	117093875	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:117093875C>G	ENST00000355044.3	+	19	3247	c.3121C>G	c.(3121-3123)Caa>Gaa	p.Q1041E	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1041	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAGCAGTGTCAAGATTGTAT	0.373000													13	32					0	0	0.002450	0	0
TUBD1	51174	broad.mit.edu	37	17	57963583	57963583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:57963583C>A	ENST00000325752.3	-	3	458	c.181G>T	c.(181-183)Gcc>Tcc	p.A61S	TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.A61S|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.A61S|TUBD1_ENST00000340993.6_Missense_Mutation_p.A61S|TUBD1_ENST00000394239.3_Missense_Mutation_p.A61S|TUBD1_ENST00000539018.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	61					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACAGCCCGGGCAATTGGAACT	0.408000													21	20					1.28384e-07	1.57186e-07	0.012319	1	0
SLC44A5	204962	broad.mit.edu	37	1	75685018	75685018	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:75685018G>A	ENST00000370855.5	-	16	1303	c.1190C>T	c.(1189-1191)aCa>aTa	p.T397I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T267I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T397I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	397						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACCCCCGATGTCGCCAAGAA	0.388000													18	38					0	0	0.008871	0	0
CLVS2	134829	broad.mit.edu	37	6	123318993	123318993	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:123318993C>A	ENST00000275162.4	+	2	1406	c.71C>A	c.(70-72)cCa>cAa	p.P24Q	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	24					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AATGAAAACCCAGACACGCTG	0.547000													9	41					0.000274275	0.000303894	0.004482	1	0
UNC45B	146862	broad.mit.edu	37	17	33496867	33496867	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:33496867G>C	ENST00000268876.5	+	11	1561	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000378449.1_Intron|UNC45B_ENST00000433649.1_Missense_Mutation_p.K488N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K488N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	488					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACTCTGTAAGCTCGGCTCTG	0.547000													11	27					0	0	0.010729	0	0
NELFE	7936	broad.mit.edu	37	6	31922413	31922413	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:31922413C>A	ENST00000375429.3	-	7	887	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	NELFE_ENST00000444811.2_Missense_Mutation_p.D191Y|NELFE_ENST00000375425.5_Missense_Mutation_p.D228Y	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		cgatcccgatcccgatccctg	0.637000													5	32					1.23904e-05	1.42838e-05	0.000602	1	0
SHC3	53358	broad.mit.edu	37	9	91686121	91686121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:91686121C>A	ENST00000375835.4	-	5	1082	c.776G>T	c.(775-777)gGa>gTa	p.G259V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	259	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACCGGGTCTCCCCCAGAGGC	0.498000													13	28					3.52763e-06	4.15063e-06	0.004990	1	0
PYDC2	152138	broad.mit.edu	37	3	191179074	191179074	+	Silent	SNP	C	C	T	rs141891926	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:191179074C>T	ENST00000518817.1	+	1	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	41	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542000													17	58					0	0	0.006122	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834277	179834277	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:179834277C>T	ENST00000553856.1	-	1	34	c.35G>A	c.(34-36)gGa>gAa	p.G12E	TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					CCACTGTTGTCCACAATCAGG	0.418000													24	71					0	0	0.002780	0	0
MYO1E	4643	broad.mit.edu	37	15	59548495	59548495	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:59548495C>A	ENST00000288235.4	-	4	719	c.320G>T	c.(319-321)tGc>tTc	p.C107F	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	107	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATAATGACGCACTGGTTCTC	0.403000													9	27					0.00448238	0.00478059	0.004482	1	0
KIF2B	84643	broad.mit.edu	37	17	51900598	51900598	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:51900598C>A	ENST00000268919.4	+	1	360	c.204C>A	c.(202-204)ggC>ggA	p.G68G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	68					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAAAAAGGCAAGAAGATTG	0.562000													57	67					2.48254e-18	3.68076e-18	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	167760007	167760007	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:167760007G>A	ENST00000409195.1	+	2	104	c.15G>A	c.(13-15)caG>caA	p.Q5Q	XIRP2_ENST00000409756.2_Silent_p.Q5Q|XIRP2_ENST00000409728.1_Silent_p.Q5Q|XIRP2_ENST00000420519.1_Silent_p.Q5Q|XIRP2_ENST00000409043.1_Silent_p.Q5Q|XIRP2_ENST00000295237.9_Silent_p.Q5Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCCAATGCAGAAGGGCTCCC	0.453000													9	63					0	0	0.004482	0	0
SORBS2	8470	broad.mit.edu	37	4	186578624	186578624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:186578624C>A	ENST00000431808.1	-	7	784	c.221G>T	c.(220-222)gGg>gTg	p.G74V	SORBS2_ENST00000449407.2_Missense_Mutation_p.G160V|SORBS2_ENST00000284776.7_Missense_Mutation_p.G74V|SORBS2_ENST00000437304.2_Missense_Mutation_p.G253V|SORBS2_ENST00000319471.9_Missense_Mutation_p.G160V|SORBS2_ENST00000393528.3_Missense_Mutation_p.G120V|SORBS2_ENST00000355634.5_Missense_Mutation_p.G174V|SORBS2_ENST00000448662.2_Missense_Mutation_p.G143V			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	74	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGCCCGATCCCTGGGTAATG	0.572000													12	11					1.08611e-07	1.34259e-07	0.010729	1	0
DLK1	8788	broad.mit.edu	37	14	101200908	101200908	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:101200908C>T	ENST00000341267.4	+	5	1069	c.827C>T	c.(826-828)cCg>cTg	p.P276L	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	276					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CACGAGCTGCCGGTGCAGCAG	0.647000													28	48					0	0	0.005443	0	0
GRIK3	2899	broad.mit.edu	37	1	37346315	37346315	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:37346315G>T	ENST00000373091.3	-	3	486	c.470C>A	c.(469-471)gCc>gAc	p.A157D	GRIK3_ENST00000373093.4_Missense_Mutation_p.A157D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	157					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCTGAGCGAGGCGTAGTCGGG	0.612000													34	98					3.11337e-16	4.52454e-16	0.002836	1	0
KIRREL2	84063	broad.mit.edu	37	19	36349766	36349766	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:36349766G>T	ENST00000360202.5	+	4	720	c.522_splice	c.e4+1	p.Q174_splice	NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Splice_Site_p.Q174_splice|KIRREL2_ENST00000347900.6_Splice_Site_p.Q124_splice|KIRREL2_ENST00000592409.1_Splice_Site_p.Q174_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.Q174_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	174	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTCCATCAGGTCAGGTCCA	0.567000													21	34					1.37657e-19	2.05284e-19	0.012319	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73020903	73020903	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:73020903G>T	ENST00000263674.3	+	1	1570	c.1220G>T	c.(1219-1221)aGt>aTt	p.S407I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	407					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTATGGTCTAGTAGGGGTTCT	0.647000													16	51					1.15088e-07	1.41244e-07	0.004007	1	0
HERC2	8924	broad.mit.edu	37	15	28443806	28443806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:28443806C>A	ENST00000261609.7	-	49	7934	c.7826G>T	c.(7825-7827)tGt>tTt	p.C2609F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2609					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCCAGTCACACTGCACATT	0.453000													30	69					8.16721e-17	1.20051e-16	0.010818	1	0
XIST	7503	broad.mit.edu	37	X	73066325	73066325	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:73066325G>A	ENST00000429829.1	-	0	6263					NR_001564.2																						TGCGTTATCAGCAACCCTTCT	0.463000													36	25					0	0	0.004289	0	0
MUC17	140453	broad.mit.edu	37	7	100677955	100677955	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:100677955T>C	ENST00000306151.4	+	3	3322	c.3258T>C	c.(3256-3258)gcT>gcC	p.A1086A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1086	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCTGACGGTACCA	0.507000													26	1366					0	0	0.004289	0	0
LCE1F	353137	broad.mit.edu	37	1	152749017	152749017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:152749017G>A	ENST00000334371.2	+	1	170	c.170G>A	c.(169-171)gGg>gAg	p.G57E		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	57					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGCTCTGGGGGCTGCTGC	0.682000													13	67					0	0	0.001368	0	0
ZNF423	23090	broad.mit.edu	37	16	49672436	49672436	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:49672436G>C	ENST00000561648.1	-	4	680	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ZNF423_ENST00000562520.1_Silent_p.L149L|ZNF423_ENST00000262383.2_Silent_p.L209L|ZNF423_ENST00000563137.2_Silent_p.L149L|ZNF423_ENST00000567169.1_Silent_p.L92L|ZNF423_ENST00000535559.1_Silent_p.L92L|ZNF423_ENST00000562871.1_Silent_p.L149L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	209					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGGATCTTGAGGTGGTCGC	0.607000													10	42					0	0	0.006214	0	0
NSUN2	54888	broad.mit.edu	37	5	6618078	6618078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:6618078C>A	ENST00000264670.6	-	8	1186	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NSUN2_ENST00000506139.1_Missense_Mutation_p.S257I|NSUN2_ENST00000539938.1_Missense_Mutation_p.S56I	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	292						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAGCTGCAAGCTATTTAAGGT	0.393000													7	62					0.00307968	0.00329828	0.003080	1	0
GFI1B	8328	broad.mit.edu	37	9	135864485	135864485	+	Missense_Mutation	SNP	G	G	A	rs148728985		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:135864485G>A	ENST00000339463.3	+	9	1367	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GFI1B_ENST00000450530.1_Missense_Mutation_p.R183Q|GFI1B_ENST00000372122.1_Missense_Mutation_p.R183Q|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000372124.1_Intron			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	183	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GTGCATGTGCGACGCTCCCAT	0.667000													12	19					0	0	0.010729	0	0
MKL2	57496	broad.mit.edu	37	16	14346323	14346323	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:14346323C>G	ENST00000571589.1	+	15	2839	c.2667C>G	c.(2665-2667)atC>atG	p.I889M	MKL2_ENST00000574045.1_Missense_Mutation_p.I839M|MKL2_ENST00000318282.5_Missense_Mutation_p.I839M|MKL2_ENST00000341243.5_Missense_Mutation_p.I878M	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	878					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGGCCATCAAGCAGACAC	0.582000													20	45					0	0	0.008871	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	24					0	0	0.004878	0	0
GGT6	124975	broad.mit.edu	37	17	4461429	4461429	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:4461429C>T	ENST00000301395.3	-	3	1326	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	GGT6_ENST00000574154.1_Missense_Mutation_p.E455K|GGT6_ENST00000381550.3_Missense_Mutation_p.E461K|GGT6_ENST00000573591.1_Missense_Mutation_p.E307K	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	455					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTGTTGGTTCTTGCTGACCC	0.637000													10	47					0	0	0.006214	0	0
FCRL3	115352	broad.mit.edu	37	1	157659607	157659607	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:157659607G>T	ENST00000368184.3	-	10	2082	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	FCRL3_ENST00000368186.5_Silent_p.A597A|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	597						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTCGGGCCCTGGCGTAATGCA	0.537000													15	28					6.31663e-08	7.86512e-08	0.003163	1	0
FGF6	2251	broad.mit.edu	37	12	4554430	4554430	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:4554430C>A	ENST00000228837.2	-	1	350	c.307G>T	c.(307-309)Gac>Tac	p.D103Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	103					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ATCCGGCCGTCGGGGAGCACC	0.632000													10	24					6.40141e-05	7.28143e-05	0.010729	1	0
EI24	9538	broad.mit.edu	37	11	125448120	125448120	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:125448120G>T	ENST00000278903.6	+	6	650	c.408G>T	c.(406-408)gtG>gtT	p.V136V	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Silent_p.V136V|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	136					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		CCTTGTTTGTGCTTAGCAAAG	0.498000													30	103					2.47511e-08	3.12741e-08	0.008361	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887380	12887380	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:12887380C>T	ENST00000535591.1	-	3	672	c.477G>A	c.(475-477)ctG>ctA	p.L159L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	159										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCACCATTTTCAGGATGCTTC	0.478000													83	275					0	0	0.003610	0	0
CAPN5	726	broad.mit.edu	37	11	76830197	76830197	+	Splice_Site	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:76830197A>G	ENST00000278559.3	+	9	1478	c.1290_splice	c.e9+1	p.K430_splice	CAPN5_ENST00000529629.1_Splice_Site_p.K430_splice|CAPN5_ENST00000456580.2_Splice_Site_p.K470_splice|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	430	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GACATCTACAAGGTGAGGCCA	0.612000													6	9					0	0	0.001168	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651118	84651118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:84651118G>T	ENST00000286744.5	+	21	2962	c.2738G>T	c.(2737-2739)cGt>cTt	p.R913L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R913L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	913	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGAGAAGCGTATTAACCTG	0.478000													25	71					1.66031e-10	2.25327e-10	0.003954	1	0
MOG	4340	broad.mit.edu	37	6	29627382	29627382	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:29627382C>T	ENST00000376894.4	+	2	493	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MOG_ENST00000396701.2_Silent_p.F125F|MOG_ENST00000431798.2_Silent_p.F125F|MOG_ENST00000396704.3_Silent_p.F125F|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.F125F|MOG_ENST00000376902.3_Silent_p.F125F|MOG_ENST00000533330.2_Silent_p.F125F|MOG_ENST00000494692.1_Silent_p.F125F|MOG_ENST00000490427.1_Intron|MOG_ENST00000376898.3_Silent_p.F125F|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Silent_p.F125F|MOG_ENST00000416766.2_Silent_p.F125F|MOG_ENST00000469603.1_3'UTR			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	125	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAGGAGGTTTCACCTGCTTCT	0.458000													8	40					0	0	0.004482	0	0
PTPRC	5788	broad.mit.edu	37	1	198671624	198671624	+	Missense_Mutation	SNP	G	G	T	rs138554556		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:198671624G>T	ENST00000367376.2	+	6	713	c.542G>T	c.(541-543)cGc>cTc	p.R181L	PTPRC_ENST00000442510.2_Missense_Mutation_p.R183L|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTACCTGCACGCACCTCCAAC	0.498000													54	172					4.70178e-45	7.3537e-45	0.003610	1	0
TNS1	7145	broad.mit.edu	37	2	218712763	218712763	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:218712763G>A	ENST00000171887.4	-	17	2554	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	TNS1_ENST00000430930.1_Missense_Mutation_p.S701F|TNS1_ENST00000419504.1_Missense_Mutation_p.S701F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	701						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCCTGCTGGGAGGCTGCTCG	0.597000													12	51					0	0	0.001855	0	0
ZNF679	168417	broad.mit.edu	37	7	63726554	63726554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:63726554G>T	ENST00000421025.1	+	5	812	c.543G>T	c.(541-543)aaG>aaT	p.K181N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K181N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATACTGGAAAGAAACATTTCA	0.318000													4	10					0.00024832	0.000275732	0.009096	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432378	104432378	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:104432378C>T	ENST00000361820.3	-	3	2916	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	772					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCATAGATCTTCTCACCTA	0.393000													11	20					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82584810	82584810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:82584810C>A	ENST00000423517.2	-	5	5796	c.5459G>T	c.(5458-5460)aGg>aTg	p.R1820M	PCLO_ENST00000333891.8_Missense_Mutation_p.R1820M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1751					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCCTTTCCCTTCTTCTCTG	0.428000													42	117					7.63091e-17	1.1249e-16	0.007835	1	0
SLC35A1	10559	broad.mit.edu	37	6	88187120	88187120	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:88187120G>A	ENST00000544441.1	+	0	87				SLC35A1_ENST00000369552.4_Silent_p.V19V|SLC35A1_ENST00000369556.3_Silent_p.V19V|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.V19V			P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1						carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTTGGCAGTGATGACCCTGA	0.363000													8	34					0	0	0.003080	0	0
C1orf85	112770	broad.mit.edu	37	1	156263975	156263975	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:156263975T>C	ENST00000362007.1	-	4	658	c.632A>G	c.(631-633)cAc>cGc	p.H211R	C1orf85_ENST00000368264.1_Missense_Mutation_p.H125R|C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	211					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTCTGCTGTGTGCAGGAGGCG	0.617000													16	26					0	0	0.004007	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303798	107303798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:107303798G>A	ENST00000265715.3	+	3	446	c.222G>A	c.(220-222)tgG>tgA	p.W74*		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	74					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTTGGAGTGGCTCCCCAAAT	0.468000									Pendred syndrome				30	76					0	0	0.007291	0	0
SVEP1	79987	broad.mit.edu	37	9	113208255	113208255	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:113208255T>C	ENST00000401783.2	-	26	4661	c.4325A>G	c.(4324-4326)gAt>gGt	p.D1442G	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1419G|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1442G|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1442	Pentaxin.			D -> V (in Ref. 1; CAF04067 and 3; BAB55420).	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGCATGCCATCTAGCATGAC	0.433000													18	26					0	0	0.006122	0	0
SLIT3	6586	broad.mit.edu	37	5	168222582	168222582	+	Splice_Site	SNP	G	G	C	rs143425660		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:168222582G>C	ENST00000519560.1	-	10	1356	c.935_splice	c.e10-1	p.R313_splice	SLIT3_ENST00000404867.3_Splice_Site_p.R313_splice|SLIT3_ENST00000332966.8_Splice_Site_p.R313_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	313					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTCTAGGCGTCTGGGAAAC	0.512000													22	36					0	0	0.002299	0	0
ZNF92	168374	broad.mit.edu	37	7	64863949	64863949	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:64863949A>G	ENST00000328747.7	+	4	1121	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	ZNF92_ENST00000431504.1_Missense_Mutation_p.M232V|ZNF92_ENST00000357512.2_Missense_Mutation_p.M276V|ZNF92_ENST00000450302.2_Missense_Mutation_p.M239V	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAATTCATATGGAAGATAA	0.328000													8	22					0	0	0.003080	0	0
HTT	3064	broad.mit.edu	37	4	3134601	3134601	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:3134601C>G	ENST00000355072.5	+	18	2601	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	819					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGGATGAGTCTTCTGTTACT	0.388000													35	77					0	0	0.007835	0	0
FBXW11	23291	broad.mit.edu	37	5	171384669	171384669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:171384669C>A	ENST00000265094.5	-	2	216	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	FBXW11_ENST00000296933.6_Intron|FBXW11_ENST00000393802.2_Intron|FBXW11_ENST00000425623.2_Intron	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	27					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCAGGTTGGCGCAGCCTAGC	0.502000													25	60					9.57634e-11	1.31355e-10	0.003330	1	0
ALCAM	214	broad.mit.edu	37	3	105086291	105086291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:105086291C>A	ENST00000306107.5	+	1	539	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ALCAM_ENST00000472644.2_Missense_Mutation_p.F13L	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	13					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTCTGCTCTTCTGCCTCTTGA	0.647000													26	61					9.39395e-14	1.32757e-13	0.006320	1	0
TRPC5	7224	broad.mit.edu	37	X	111155945	111155945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:111155945G>C	ENST00000262839.2	-	3	1392	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	158					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAAGCAATTTGATGATTTCGT	0.537000													30	24					0	0	0.008361	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663679	169663679	+	RNA	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:169663679C>G	ENST00000483289.2	-	0	3615				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TTTTACAGGGCAGGAGCCCCT	0.448000													20	51					0	0	0.007413	0	0
ANO5	203859	broad.mit.edu	37	11	22276990	22276990	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:22276990A>T	ENST00000324559.8	+	13	1571	c.1254A>T	c.(1252-1254)gaA>gaT	p.E418D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	418						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGACTTTGAAGAGGAACAGC	0.378000													41	67					0	0	0.010771	0	0
TNR	7143	broad.mit.edu	37	1	175355328	175355328	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:175355328G>A	ENST00000367674.1	-	8	2325	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	TNR_ENST00000263525.2_Silent_p.G539G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	539	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCCCACCAGGCCATATTTCA	0.602000													10	30					0	0	0.006214	0	0
PDZD4	57595	broad.mit.edu	37	X	153073880	153073880	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:153073880G>A	ENST00000164640.4	-	2	422	c.231C>T	c.(229-231)acC>acT	p.T77T	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	77						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					TATGCTCGAAGGTGATGTCGG	0.657000													20	7					0	0	0.007413	0	0
CHST8	64377	broad.mit.edu	37	19	34262337	34262337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:34262337G>T	ENST00000262622.3	+	3	908	c.150G>T	c.(148-150)agG>agT	p.R50S	CHST8_ENST00000438847.2_Missense_Mutation_p.R50S|CHST8_ENST00000434302.1_Missense_Mutation_p.R50S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	50					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			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)					TCAACATCAGGCCAAGGCAGC	0.517000											OREG0025417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31					1.58986e-06	1.88796e-06	0.008291	1	0
SLC35F4	341880	broad.mit.edu	37	14	58060707	58060707	+	Missense_Mutation	SNP	T	T	A	rs145246618	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:58060707T>A	ENST00000556826.1	-	2	475	c.239A>T	c.(238-240)cAa>cTa	p.Q80L	SLC35F4_ENST00000339762.6_Missense_Mutation_p.Q116L|SLC35F4_ENST00000554729.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAGGATCCTTGGTTTTGAAG	0.478000													9	20					0	0	0.006214	0	0
PPRC1	23082	broad.mit.edu	37	10	103900471	103900471	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:103900471G>C	ENST00000278070.2	+	5	2245	c.2206G>C	c.(2206-2208)Gaa>Caa	p.E736Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.E736Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTGAAAATTGAAAGTGGTAC	0.537000													35	79					0	0	0.002836	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330560	42330560	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:42330560G>C	ENST00000262418.6	-	17	2392	c.2237C>G	c.(2236-2238)aCc>aGc	p.T746S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	746	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCCCTGGGGTGCTGGCTTT	0.642000													40	33					0	0	0.006230	0	0
LCA5L	150082	broad.mit.edu	37	21	40792770	40792770	+	Splice_Site	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr21:40792770C>G	ENST00000358268.2	-	6	1366		c.e6-1		LCA5L_ENST00000288350.3_Splice_Site|LCA5L_ENST00000380671.2_Splice_Site			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like											breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTCCAAGCTCTGAAAACAGT	0.383000													4	21					0	0	0.000602	0	0
C20orf194	25943	broad.mit.edu	37	20	3321201	3321201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:3321201C>A	ENST00000252032.9	-	10	998	c.931G>T	c.(931-933)Gga>Tga	p.G311*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.G50*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	311										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCAGATGTCCTTCAGAAGGG	0.493000													13	39					0.000151284	0.000169823	0.001855	1	0
TBC1D24	57465	broad.mit.edu	37	16	2550821	2550821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:2550821G>C	ENST00000567020.1	+	7	1664	c.1524G>C	c.(1522-1524)caG>caC	p.Q508H	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Missense_Mutation_p.Q514H|TBC1D24_ENST00000434757.2_Missense_Mutation_p.Q514H	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	514	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GAGGCGGCCAGGCGCTCTACA	0.647000											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	22					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82784333	82784333	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:82784333G>C	ENST00000423517.2	-	2	1961	c.1624C>G	c.(1624-1626)Caa>Gaa	p.Q542E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q542E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	488	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGGCTGTTGAGCTGAGGGT	0.557000													109	255					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762719	176762719	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:176762719G>T	ENST00000367662.3	+	20	6208	c.5044G>T	c.(5044-5046)Gta>Tta	p.V1682L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1682	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCATTGTGTGTAATCCCCCC	0.473000													26	88					1.42536e-11	1.98698e-11	0.004656	1	0
DUOX2	50506	broad.mit.edu	37	15	45402112	45402112	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:45402112G>A	ENST00000389039.6	-	10	1492	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	DUOX2_ENST00000603300.1_Silent_p.V369V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	369	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTTGTTGCAGACCCTGAGAG	0.507000													27	82					0	0	0.008361	0	0
KCNN2	3781	broad.mit.edu	37	5	113698773	113698773	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:113698773C>G	ENST00000512097.3	+	2	1319	c.301C>G	c.(301-303)Cac>Gac	p.H101D	KCNN2_ENST00000264773.3_Missense_Mutation_p.H101D			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	101	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		cgggagcgggcacggcagcag	0.642000													9	15					0	0	0.004482	0	0
TKTL2	84076	broad.mit.edu	37	4	164393900	164393900	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:164393900C>G	ENST00000280605.3	-	1	1147	c.987G>C	c.(985-987)ctG>ctC	p.L329L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	329						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ccagtttagccagagccaaac	0.428000													32	54					0	0	0.008361	0	0
COL4A4	1286	broad.mit.edu	37	2	227920778	227920778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:227920778C>G	ENST00000396625.3	-	30	2806	c.2599G>C	c.(2599-2601)Gga>Cga	p.G867R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G867R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	867	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTCATTCCAGCTGGCCCG	0.632000													11	41					0	0	0.008291	0	0
ITIH5	80760	broad.mit.edu	37	10	7608072	7608072	+	Silent	SNP	C	C	T	rs138709165	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:7608072C>T	ENST00000256861.6	-	13	2526	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	ITIH5_ENST00000446830.2_Silent_p.P598P|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.P602P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	816					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGAAGGGCGCCGGCTTTTTGT	0.602000													23	52					0	0	0.012319	0	0
TRIB3	57761	broad.mit.edu	37	20	368838	368838	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:368838G>C	ENST00000217233.3	+	2	737	c.184G>C	c.(184-186)Gtg>Ctg	p.V62L	TRIB3_ENST00000422053.2_Missense_Mutation_p.V89L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	62					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TGCAACTGCTGTGGCCACTGC	0.672000													29	52					0	0	0.008361	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756141	145756141	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:145756141T>G	ENST00000276826.5	-	9	3203	c.3002A>C	c.(3001-3003)cAc>cCc	p.H1001P	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032P|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1001	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGCAGCGCGTGCACCACGGC	0.692000													14	18					0	0	0.002450	0	0
CEP152	22995	broad.mit.edu	37	15	49031027	49031027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:49031027C>A	ENST00000380950.2	-	27	4739	c.4552G>T	c.(4552-4554)Gga>Tga	p.G1518*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.G1462*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1462					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCATGCATCCTGATTCAGAA	0.398000													16	54					1.3612e-06	1.62018e-06	0.003163	1	0
OAS2	4939	broad.mit.edu	37	12	113442796	113442796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:113442796G>T	ENST00000392583.2	+	7	1444	c.1237G>T	c.(1237-1239)Gtg>Ttg	p.V413L	OAS2_ENST00000342315.4_Missense_Mutation_p.V413L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	413	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGATCTCGTCGTGTTCCATAA	0.473000													13	50					0.00010058	0.000113152	0.001368	1	0
CCDC85A	114800	broad.mit.edu	37	2	56603008	56603008	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:56603008G>A	ENST00000407595.2	+	5	2012	c.1510G>A	c.(1510-1512)Gct>Act	p.A504T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	504										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAACTCTGCAGCTAGCTTCAG	0.443000													14	31					0	0	0.002450	0	0
HERC2	8924	broad.mit.edu	37	15	28482208	28482208	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:28482208G>C	ENST00000261609.7	-	26	4012	c.3904C>G	c.(3904-3906)Ctg>Gtg	p.L1302V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1302					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGTCTATCAGAGGTGAAGAG	0.448000													10	25					0	0	0.010729	0	0
PAH	5053	broad.mit.edu	37	12	103245481	103245481	+	Missense_Mutation	SNP	A	A	T	rs62642933		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:103245481A>T	ENST00000553106.1	-	8	1368	c.896T>A	c.(895-897)tTt>tAt	p.F299Y	PAH_ENST00000307000.2_Missense_Mutation_p.F294Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	299			F -> C (in PKU; haplotype 8).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAACTGGGCAAAGCTGCGATC	0.488000													13	35					0	0	0.001855	0	0
CHD1	1105	broad.mit.edu	37	5	98210789	98210789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:98210789C>A	ENST00000284049.3	-	24	3576	c.3427G>T	c.(3427-3429)Ggt>Tgt	p.G1143C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1143					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCAGAGGACCACCAAATTTC	0.284000													11	20					0.000978159	0.00106538	0.010729	1	0
XIRP2	129446	broad.mit.edu	37	2	168099611	168099611	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:168099611T>G	ENST00000409195.1	+	9	1798	c.1709T>G	c.(1708-1710)cTg>cGg	p.L570R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L570R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L348R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	395					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGAAATTCTGAAGGGAGAG	0.413000													9	16					0	0	0.004482	0	0
ROBO3	64221	broad.mit.edu	37	11	124743984	124743984	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:124743984A>T	ENST00000397801.1	+	12	1995	c.1803A>T	c.(1801-1803)acA>acT	p.T601T	ROBO3_ENST00000538940.1_Silent_p.T579T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	601	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGGCAACACATGGCGTACTG	0.547000													32	148					0	0	0.003755	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723720	7723720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:7723720C>A	ENST00000303635.7	+	9	1320	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D371E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGACCCGGACATGGTGGACA	0.637000			T	WWTR1	epitheliod hemangioendothelioma								25	58					1.04121e-07	1.29332e-07	0.005443	1	0
SYNE2	23224	broad.mit.edu	37	14	64537567	64537567	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:64537567G>C	ENST00000358025.3	+	52	10866	c.10636G>C	c.(10636-10638)Ggg>Cgg	p.G3546R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.G180R|SYNE2_ENST00000344113.4_Missense_Mutation_p.G3546R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3579R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3546					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAAGCTCAGGGGCTGTGGA	0.408000													6	26					0	0	0.001168	0	0
TET2	54790	broad.mit.edu	37	4	106155823	106155823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:106155823G>T	ENST00000540549.1	+	3	1584	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	TET2_ENST00000413648.2_Missense_Mutation_p.V242L|TET2_ENST00000305737.2_Missense_Mutation_p.V242L|TET2_ENST00000380013.4_Missense_Mutation_p.V242L|TET2_ENST00000545826.1_Missense_Mutation_p.V242L|TET2_ENST00000394764.1_Missense_Mutation_p.V242L|TET2_ENST00000513237.1_Missense_Mutation_p.V263L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	242					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCCATTGCGGTGCAGAAAAC	0.443000			"""Mis N, F"""		MDS								6	29					0.00116845	0.00126726	0.001168	1	0
PTPN5	84867	broad.mit.edu	37	11	18765647	18765647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:18765647G>T	ENST00000396170.1	-	4	1461	c.197C>A	c.(196-198)tCa>tAa	p.S66*	PTPN5_ENST00000358540.2_Nonsense_Mutation_p.S66*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.S66*|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.S42*|PTPN5_ENST00000396167.2_Nonsense_Mutation_p.S66*|PTPN5_ENST00000496201.2_5'UTR	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	66						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCTGGATCTGAGGGCGGCGA	0.647000													55	78					1.75667e-42	2.73912e-42	0.003610	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79057023	79057023	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:79057023C>A	ENST00000388820.4	-	20	4503	c.4293G>T	c.(4291-4293)gcG>gcT	p.A1431A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1431	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTCCAGACCGCACCCAGGC	0.721000													6	11					0.00198382	0.00213802	0.001984	1	0
ELMO1	9844	broad.mit.edu	37	7	36910005	36910005	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:36910005T>A	ENST00000310758.4	-	20	2545	c.1898A>T	c.(1897-1899)cAa>cTa	p.Q633L	ELMO1_ENST00000396040.2_Missense_Mutation_p.Q153L|ELMO1_ENST00000341056.3_Missense_Mutation_p.Q335L|ELMO1_ENST00000396045.3_Missense_Mutation_p.Q153L|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q633L|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q633L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	633	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTTGTTTTGTTTAAGGGC	0.458000													16	51					0	0	0.004990	0	0
HCG17	414778	broad.mit.edu	37	6	30230082	30230082	+	RNA	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:30230082T>C	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							GCAGCAATTGTGCTCAGTACT	0.512000													38	97					0	0	0.011902	0	0
TLN2	83660	broad.mit.edu	37	15	63031593	63031593	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:63031593A>T	ENST00000561311.1	+	30	3964	c.3734A>T	c.(3733-3735)aAc>aTc	p.N1245I	TLN2_ENST00000306829.6_Missense_Mutation_p.N1245I|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1245					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTGAACTGAACCAGGCAGCA	0.582000													12	42					0	0	0.010729	0	0
NDNF	79625	broad.mit.edu	37	4	121957465	121957465	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:121957465G>C	ENST00000379692.4	-	4	2187	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	554	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ATACTTTACAGAGTGCCCCCC	0.398000													38	80					0	0	0.004878	0	0
PSG8	440533	broad.mit.edu	37	19	43258608	43258608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:43258608G>T	ENST00000404209.4	-	5	1216	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PSG8_ENST00000306511.4_Missense_Mutation_p.L374I|PSG8_ENST00000406636.3_Missense_Mutation_p.L252I|PSG8_ENST00000401467.2_Missense_Mutation_p.L281I|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	374	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTCCTGATAGCTGAAACTTC	0.463000													95	124					3.21569e-47	5.04479e-47	0.003610	1	0
BRIP1	83990	broad.mit.edu	37	17	59853777	59853777	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:59853777G>C	ENST00000259008.2	-	14	2349	c.2082C>G	c.(2080-2082)ttC>ttG	p.F694L	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.F694L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	694					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAGATGGCAAGAAACACAAAA	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					16	50					0	0	0.004990	0	0
WDR59	79726	broad.mit.edu	37	16	74976686	74976686	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:74976686T>G	ENST00000262144.6	-	7	614	c.484A>C	c.(484-486)Aac>Cac	p.N162H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	162										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAAGGCAGTTAGCATTTTTT	0.502000													13	27					0	0	0.001855	0	0
SPTA1	6708	broad.mit.edu	37	1	158606553	158606553	+	Splice_Site	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:158606553T>A	ENST00000368148.3	-	37	5370		c.e37-2		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTTCTCCCTAAAATCAAGG	0.473000													28	74					0	0	0.006320	0	0
KIAA1524	57650	broad.mit.edu	37	3	108300277	108300277	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:108300277C>G	ENST00000295746.8	-	5	610	c.534G>C	c.(532-534)acG>acC	p.T178T	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Silent_p.T19T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	178						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTTATGTGCGTTTGAACAG	0.299000													7	16					0	0	0.003080	0	0
TRIM8	81603	broad.mit.edu	37	10	104416717	104416717	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:104416717C>G	ENST00000302424.6	+	6	1384	c.1262C>G	c.(1261-1263)tCc>tGc	p.S421C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	421						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCTGCAGCTCCACGCAGCAC	0.721000													17	57					0	0	0.004990	0	0
SMYD5	10322	broad.mit.edu	37	2	73441457	73441457	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:73441457C>T	ENST00000389501.4	+	1	108	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	21							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCGCGCGGGTCTCCGTGGAAG	0.711000													43	133					0	0	0.008740	0	0
FAM47C	442444	broad.mit.edu	37	X	37027568	37027568	+	Missense_Mutation	SNP	G	G	A	rs149671724	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:37027568G>A	ENST00000358047.3	+	1	1137	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	362										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						CCAGAGACTCGCGTATCTCCT	0.647000													44	37					0	0	0.011902	0	0
KLK12	43849	broad.mit.edu	37	19	51535216	51535216	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:51535216G>C	ENST00000525263.1	-	3	492	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.Q125E|KLK12_ENST00000319590.4_Missense_Mutation_p.Q125E			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	125	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCAGGGGTTGAACGCTGCTG	0.687000													18	27					0	0	0.004990	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67968389	67968389	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:67968389A>C	ENST00000377477.2	+	15	2060	c.1948A>C	c.(1948-1950)Att>Ctt	p.I650L		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GAGTTCTGCTATTTCCAAAGT	0.328000													31	138					0	0	0.009535	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762436	48762436	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:48762436G>C	ENST00000376521.1	-	4	1071	c.750C>G	c.(748-750)ctC>ctG	p.L250L	SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000413561.2_Silent_p.L189L|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Silent_p.L278L|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Silent_p.L250L	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	250					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CAGCCCACCAGAGCCCCACCA	0.627000													3	6					0	0	0.004672	0	0
HCN4	10021	broad.mit.edu	37	15	73624565	73624565	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:73624565G>A	ENST00000261917.3	-	3	2271	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	426					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGCAGAGCAGGAGCATCATGC	0.587000													8	50					0	0	0.004482	0	0
DMD	1756	broad.mit.edu	37	X	32662424	32662424	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:32662424T>C	ENST00000357033.4	-	11	1362	c.1156A>G	c.(1156-1158)Atg>Gtg	p.M386V	DMD_ENST00000378677.2_Missense_Mutation_p.M382V|DMD_ENST00000288447.4_Missense_Mutation_p.M378V	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	386					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			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)				AAATCCATCATGTACCCCTGA	0.383000													19	6					0	0	0.012319	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147248	26147248	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:26147248C>A	ENST00000331351.5	+	2	1442	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	350					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.S350S(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCCCCTCTCCCAGATCCTCT	0.532000													26	112					6.36457e-07	7.64643e-07	0.003954	1	0
PSG7	5676	broad.mit.edu	37	19	43429935	43429935	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:43429935G>T	ENST00000446844.3	-	0	1322				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CAGAGACTCTGACTGTCACGG	0.463000													79	111					8.78217e-53	1.38198e-52	0.003610	1	0
UGT2B10	7365	broad.mit.edu	37	4	69696438	69696438	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:69696438A>T	ENST00000265403.7	+	6	1455	c.1428A>T	c.(1426-1428)cgA>cgT	p.R476R	UGT2B10_ENST00000458688.2_Silent_p.R392R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	476					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AACATCTTCGAGTTGCAGCCC	0.468000													47	204					0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137710716	137710716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:137710716C>T	ENST00000371817.3	+	56	4775	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1454	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCCAGGATCCCCAGGCCCG	0.632000													18	31					0	0	0.006122	0	0
HIPK4	147746	broad.mit.edu	37	19	40886710	40886710	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:40886710A>T	ENST00000291823.2	-	3	1472	c.1188T>A	c.(1186-1188)gcT>gcA	p.A396A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	396						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCTTCTCCTCAGCCAGACAGT	0.652000													20	53					0	0	0.007413	0	0
BOLL	66037	broad.mit.edu	37	2	198631311	198631311	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:198631311C>A	ENST00000321801.7	-	7	1103	c.533G>T	c.(532-534)aGc>aTc	p.S178I	BOLL_ENST00000430004.1_Missense_Mutation_p.S166I|BOLL_ENST00000433157.1_Missense_Mutation_p.S166I|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Missense_Mutation_p.S57I|BOLL_ENST00000392296.4_Missense_Mutation_p.S166I	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	166	DAZ-like.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CACAGGGGAGCTACATACAGA	0.343000													6	29					0.00307968	0.00329828	0.003080	1	0
SLC3A1	6519	broad.mit.edu	37	2	44508034	44508034	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:44508034G>A	ENST00000260649.6	+	2	686	c.610_splice	c.e2+1	p.G204_splice	SLC3A1_ENST00000409741.1_Splice_Site_p.G204_splice|SLC3A1_ENST00000409229.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000410056.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409387.1_Splice_Site_p.G204_splice	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	204					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACATGATAAAGGTAAGTTGAA	0.373000													9	32					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763259	77763259	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:77763259G>T	ENST00000521891.2	+	10	4550	c.4102G>T	c.(4102-4104)Gtg>Ttg	p.V1368L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V1342L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V1323L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V1323L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTAAGGATGTGAAAATCCC	0.418000										HNSCC(33;0.089)			9	26					3.09899e-07	3.74948e-07	0.004482	1	0
CHRM5	1133	broad.mit.edu	37	15	34355599	34355599	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:34355599G>T	ENST00000383263.5	+	3	1351	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CHRM5_ENST00000557872.1_Silent_p.L227L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	227					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CCAAGGACCTGGCTGACCTCC	0.537000													72	134					4.29146e-36	6.67127e-36	0.003610	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338125	28338125	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr21:28338125C>G	ENST00000284987.5	-	1	707	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	196					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGAAGCCCTCGCGGGTGTAG	0.697000													9	4					0	0	0.010729	0	0
NFASC	23114	broad.mit.edu	37	1	204955197	204955197	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:204955197G>A	ENST00000367172.4	+	23	3074	c.2746G>A	c.(2746-2748)Gat>Aat	p.D916N	NFASC_ENST00000338515.6_Missense_Mutation_p.D916N|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.D916N|NFASC_ENST00000367170.4_Missense_Mutation_p.D916N|NFASC_ENST00000404907.1_Missense_Mutation_p.D912N|NFASC_ENST00000367171.4_Missense_Mutation_p.D901N|NFASC_ENST00000404076.1_Missense_Mutation_p.D895N|NFASC_ENST00000539706.1_Missense_Mutation_p.D912N|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.D912N|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000513543.1_Missense_Mutation_p.D912N			O94856	NFASC_HUMAN	neurofascin	916	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGAGAGGTGATGGGCCTCG	0.617000													7	33					0	0	0.003080	0	0
MRPL39	54148	broad.mit.edu	37	21	26979749	26979749	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr21:26979749G>C	ENST00000307301.7	-	1	80	c.39C>G	c.(37-39)ctC>ctG	p.L13L	MRPL39_ENST00000352957.4_Silent_p.L13L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	13						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CGACCAGCCAGAGCCGCAGCG	0.647000											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.012319	0	0
SPG20	23111	broad.mit.edu	37	13	36900714	36900714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr13:36900714G>A	ENST00000451493.1	-	5	1503	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.S429L|SPG20_ENST00000438666.2_Missense_Mutation_p.S429L|SPG20_ENST00000494062.2_Missense_Mutation_p.S429L	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	429					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGTAATACCTGACAAAATGTT	0.338000													9	16					0	0	0.001368	0	0
HABP2	3026	broad.mit.edu	37	10	115348000	115348000	+	Missense_Mutation	SNP	G	G	C	rs143492790	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:115348000G>C	ENST00000351270.3	+	13	1651	c.1555G>C	c.(1555-1557)Ggc>Cgc	p.G519R	HABP2_ENST00000542051.1_Missense_Mutation_p.G493R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	519	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGAGAAGGACGGCACCTACTA	0.552000													18	61					0	0	0.010504	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801120	62801120	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:62801120C>T	ENST00000582986.1	-	0	712					NR_024386.1																						ACTCTGGAGTCCCCCTGTAAG	0.532000													3	25					0	0	0.004672	0	0
RGS7	6000	broad.mit.edu	37	1	240978031	240978031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:240978031G>T	ENST00000366565.1	-	12	1211	c.830C>A	c.(829-831)tCa>tAa	p.S277*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.S193*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.S251*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.S277*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.S224*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.S224*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	277	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGCGACTTTTGACATTTTTAA	0.303000													19	49					4.96729e-08	6.21517e-08	0.008871	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68138360	68138360	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:68138360C>T	ENST00000262215.3	-	28	4364	c.3975G>A	c.(3973-3975)aaG>aaA	p.K1325K	ARFGEF1_ENST00000518230.1_Silent_p.K163K|ARFGEF1_ENST00000520381.1_Silent_p.K779K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1325					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAGACAAACACTTCACTGCAT	0.358000													9	15					0	0	0.001368	0	0
ATP10B	23120	broad.mit.edu	37	5	159996664	159996664	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:159996664G>A	ENST00000327245.5	-	25	4623	c.3777C>T	c.(3775-3777)ctC>ctT	p.L1259L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1259					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCTGCCGAGGAGCACGA	0.507000													10	22					0	0	0.008291	0	0
RASAL1	8437	broad.mit.edu	37	12	113546025	113546025	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:113546025A>T	ENST00000546530.1	-	15	1665	c.1380T>A	c.(1378-1380)gaT>gaA	p.D460E	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.D459E|RASAL1_ENST00000261729.5_Missense_Mutation_p.D459E|RASAL1_ENST00000548055.1_Missense_Mutation_p.D459E	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	459	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGTACTTCACATCCTGCTGGG	0.537000													5	27					0	0	0.001168	0	0
F13A1	2162	broad.mit.edu	37	6	6266855	6266855	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:6266855G>C	ENST00000264870.3	-	4	772	c.507C>G	c.(505-507)ggC>ggG	p.G169G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	169					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGAAGTACGCCATAGGGAG	0.458000													22	47					0	0	0.003330	0	0
TDRD5	163589	broad.mit.edu	37	1	179620127	179620127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:179620127C>G	ENST00000444136.1	+	12	2176	c.1926C>G	c.(1924-1926)aaC>aaG	p.N642K	TDRD5_ENST00000367614.1_Missense_Mutation_p.N642K|TDRD5_ENST00000294848.8_Missense_Mutation_p.N642K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	642					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATCCTCAAACGAAGATGTCT	0.413000													10	43					0	0	0.008291	0	0
BRCA1	672	broad.mit.edu	37	17	41246294	41246294	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:41246294C>G	ENST00000309486.4	-	9	1393	c.366G>C	c.(364-366)gaG>gaC	p.E122D	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E418D|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E418D|BRCA1_ENST00000471181.2_Missense_Mutation_p.E418D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E418D|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E371D|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	418					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCATCTACCTCATTTAGAA	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			38	35					0	0	0.004289	0	0
COL5A2	1290	broad.mit.edu	37	2	189975154	189975154	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:189975154G>A	ENST00000374866.3	-	2	393	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	40	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGAGTGCAGGCTATTTCTTC	0.393000													12	38					0	0	0.001368	0	0
RBM5	10181	broad.mit.edu	37	3	50137473	50137473	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:50137473A>T	ENST00000347869.3	+	5	573	c.398A>T	c.(397-399)aAg>aTg	p.K133M	RBM5_ENST00000469838.1_Missense_Mutation_p.K133M	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	133	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCTGATGAAGAGGAAAACA	0.458000													3	9					0	0	0.004672	0	0
CTC1	80169	broad.mit.edu	37	17	8134633	8134633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:8134633G>C	ENST00000315684.8	-	15	2637	c.2630C>G	c.(2629-2631)tCa>tGa	p.S877*		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	877					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTCAGGCAATGACTTGTTTGC	0.522000													17	49					0	0	0.004990	0	0
CPXM2	119587	broad.mit.edu	37	10	125526609	125526609	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:125526609G>T	ENST00000241305.3	-	10	1513	c.1359C>A	c.(1357-1359)aaC>aaA	p.N453K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	453					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAAAGTTGTTGTTGATGTCAA	0.532000													18	79					5.03518e-11	6.9624e-11	0.007413	1	0
FZD3	7976	broad.mit.edu	37	8	28384969	28384969	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:28384969T>G	ENST00000240093.3	+	5	1170	c.692T>G	c.(691-693)tTc>tGc	p.F231C	FZD3_ENST00000537916.1_Missense_Mutation_p.F231C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	231					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTCACAAGATTCCGTTATCCT	0.358000													10	44					0	0	0.006214	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769311	140769311	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:140769311C>A	ENST00000519479.1	+	1	1860	c.1860C>A	c.(1858-1860)cgC>cgA	p.R620R	PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGCACGGGCGAAG	0.692000													30	31					1.2476e-16	1.82341e-16	0.006320	1	0
CDH23	64072	broad.mit.edu	37	10	73270967	73270967	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:73270967G>C	ENST00000224721.6	+	5	432	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	CDH23_ENST00000398809.4_Missense_Mutation_p.E143Q|CDH23_ENST00000398842.3_Missense_Mutation_p.E143Q|CDH23_ENST00000299366.7_Missense_Mutation_p.E188Q|CDH23_ENST00000461841.3_Missense_Mutation_p.E188Q|CDH23-AS1_ENST00000428918.1_RNA	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	143	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCATCCCTGAGGTAGGAGC	0.572000													7	64					0	0	0.003163	0	0
C2orf80	389073	broad.mit.edu	37	2	209045510	209045510	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:209045510T>C	ENST00000341287.4	-	6	520	c.325A>G	c.(325-327)Att>Gtt	p.I109V	C2orf80_ENST00000451346.1_Missense_Mutation_p.I90V|C2orf80_ENST00000453017.1_Missense_Mutation_p.I109V	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	109										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCCCCATAAATTTTAAAGACT	0.348000													17	33					0	0	0.010504	0	0
SMG1	23049	broad.mit.edu	37	16	18882025	18882025	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:18882025T>A	ENST00000446231.2	-	18	2811	c.2399A>T	c.(2398-2400)gAt>gTt	p.D800V	SMG1_ENST00000389467.3_Missense_Mutation_p.D800V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	800	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACGGCAAACATCGACACATCT	0.368000													4	8					0	0	0.001168	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32548584	32548584	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:32548584G>T	ENST00000360004.5	-	4	807	c.702C>A	c.(700-702)ggC>ggA	p.G234G		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCAGCACAAAGCCCCCGACTC	0.517000										Multiple Myeloma(14;0.17)			15	155					6.49762e-13	9.15736e-13	0.006122	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716907	142716907	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:142716907T>C	ENST00000381779.4	-	2	2243	c.2018A>G	c.(2017-2019)cAc>cGc	p.H673R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H673R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H673R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	673						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGTTTTGTGGTCATGCTT	0.473000													41	48					0	0	0.009718	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081478	126081478	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:126081478C>G	ENST00000298317.4	-	1	109	c.56G>C	c.(55-57)gGt>gCt	p.G19A	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.G19A	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	19					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ACTCCCGCAACCTTGGCCGTT	0.637000													45	153					0	0	0.003610	0	0
KIT	3815	broad.mit.edu	37	4	55561880	55561880	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:55561880C>T	ENST00000288135.5	+	2	367	c.270C>T	c.(268-270)acC>acT	p.T90T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	90	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGAAGCCACCAACACCGGCA	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				12	29					0	0	0.001368	0	0
ALOX5	240	broad.mit.edu	37	10	45907757	45907757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:45907757A>G	ENST00000374391.2	+	4	603	c.550A>G	c.(550-552)Aaa>Gaa	p.K184E	ALOX5_ENST00000542434.1_Missense_Mutation_p.K184E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	184	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAATTACTCCAAAGCGTAAGT	0.517000													17	37					0	0	0.004990	0	0
TPO	7173	broad.mit.edu	37	2	1497633	1497633	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:1497633A>T	ENST00000345913.4	+	11	1919	c.1828A>T	c.(1828-1830)Agc>Tgc	p.S610C	TPO_ENST00000382198.1_Missense_Mutation_p.S437C|TPO_ENST00000349624.3_Missense_Mutation_p.S437C|TPO_ENST00000346956.3_Missense_Mutation_p.S610C|TPO_ENST00000337415.3_Missense_Mutation_p.S610C|TPO_ENST00000329066.4_Missense_Mutation_p.S610C|TPO_ENST00000382201.3_Missense_Mutation_p.S553C|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	610					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTGACCTGAGCACAGCCAT	0.582000													20	21					0	0	0.007413	0	0
PALLD	23022	broad.mit.edu	37	4	169606657	169606657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:169606657C>A	ENST00000335742.7	+	6	1493	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	PALLD_ENST00000333488.4_Missense_Mutation_p.L305I|PALLD_ENST00000261509.6_Missense_Mutation_p.L428I|PALLD_ENST00000505667.1_Missense_Mutation_p.L428I|PALLD_ENST00000512127.1_Missense_Mutation_p.L46I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	428					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACTTCATATCTCTGCCGACC	0.393000									Pancreatic Cancer, Familial Clustering of				31	59					1.71298e-08	2.18054e-08	0.003755	1	0
CNTN1	1272	broad.mit.edu	37	12	41410667	41410667	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:41410667A>G	ENST00000551295.2	+	19	2485	c.2368A>G	c.(2368-2370)Aaa>Gaa	p.K790E	CNTN1_ENST00000347616.1_Missense_Mutation_p.K790E|CNTN1_ENST00000348761.2_Missense_Mutation_p.K779E|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	790	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTCAACAACAAAGGAGATGG	0.428000													11	32					0	0	0.001855	0	0
TECPR2	9895	broad.mit.edu	37	14	102906783	102906783	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:102906783C>T	ENST00000359520.7	+	11	2815	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L	TECPR2_ENST00000558678.1_Silent_p.L863L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	863							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGCCCTTCTCTGGAAGATTG	0.438000													17	92					0	0	0.006122	0	0
AOC3	8639	broad.mit.edu	37	17	41004694	41004694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:41004694C>G	ENST00000308423.2	+	1	1494	c.1334C>G	c.(1333-1335)tCa>tGa	p.S445*		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	445					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGACACCACTCAGATCTCTAC	0.542000													18	58					0	0	0.004990	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15021274	15021274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrY:15021274G>A	ENST00000336079.3	+	3	213	c.107G>A	c.(106-108)gGg>gAg	p.G36E	DDX3Y_ENST00000360160.4_Missense_Mutation_p.G36E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	36						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTTTTAGAAGGGCGCTATATA	0.358000													3	5					0	0	0.004672	0	0
HECW1	23072	broad.mit.edu	37	7	43351470	43351470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:43351470G>T	ENST00000395891.1	+	4	741	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	HECW1_ENST00000453890.1_Missense_Mutation_p.D46Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	46					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAACCCCGACCAGTTCCA	0.637000													16	60					1.5739e-10	2.14736e-10	0.004007	1	0
SRGAP3	9901	broad.mit.edu	37	3	9027454	9027454	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:9027454C>A	ENST00000383836.3	-	22	3476	c.3049G>T	c.(3049-3051)Gtc>Ttc	p.V1017F	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V993F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1017					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCGCGGATGACGATGGTGTGA	0.692000			T	RAF1	pilocytic astrocytoma								24	34					5.45024e-15	7.78823e-15	0.003330	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411033	105411033	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:105411033C>G	ENST00000333244.5	-	7	10874	c.10755G>C	c.(10753-10755)ctG>ctC	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602000													44	184					0	0	0.010771	0	0
WDR49	151790	broad.mit.edu	37	3	167249022	167249022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:167249022G>C	ENST00000308378.3	-	9	1348	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	WDR49_ENST00000476376.1_Missense_Mutation_p.S173C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S412C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	348										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATGGGGTGGGAGGGTTGGCT	0.428000													18	45					0	0	0.008871	0	0
GRID2	2895	broad.mit.edu	37	4	94344119	94344119	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:94344119G>T	ENST00000282020.4	+	10	1803	c.1545_splice	c.e10+1	p.K515_splice	GRID2_ENST00000510992.1_Splice_Site_p.K420_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	515					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTCTTTAAGGTAAGAATTA	0.358000													9	21					1.12685e-05	1.30491e-05	0.004482	1	0
OR12D2	26529	broad.mit.edu	37	6	29365235	29365235	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:29365235T>A	ENST00000383555.2	+	1	820	c.759T>A	c.(757-759)ccT>ccA	p.P253P	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCTATGCACCTGTTCTTTTCA	0.458000													42	115					0	0	0.008740	0	0
HELZ2	85441	broad.mit.edu	37	20	62193280	62193280	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr20:62193280T>C	ENST00000467148.1	-	11	6656	c.6587A>G	c.(6586-6588)cAg>cGg	p.Q2196R	HELZ2_ENST00000427522.2_Missense_Mutation_p.Q1627R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CACCTGCTCCTGGTTTGATTT	0.607000													15	8					0	0	0.003163	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352425	135352425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:135352425G>T	ENST00000463117.2	+	11	1711	c.1439G>T	c.(1438-1440)tGt>tTt	p.C480F	CYP2E1_ENST00000252945.3_Missense_Mutation_p.C480F|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	480					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGGTTTGGCTGTATCCCACCA	0.448000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				39	25					2.40579e-17	3.55669e-17	0.006230	1	0
RBM5	10181	broad.mit.edu	37	3	50137474	50137474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:50137474G>C	ENST00000347869.3	+	5	574	c.399G>C	c.(397-399)aaG>aaC	p.K133N	RBM5_ENST00000469838.1_Missense_Mutation_p.K133N	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	133	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGATGAAGAGGAAAACAG	0.458000													3	9					0	0	0.004672	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192796	132192796	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:132192796A>T	ENST00000359827.3	-	2	1619	c.657T>A	c.(655-657)caT>caA	p.H219Q	PLXNA4_ENST00000378539.5_Missense_Mutation_p.H219Q|PLXNA4_ENST00000321063.4_Missense_Mutation_p.H219Q|PLXNA4_ENST00000423507.2_Missense_Mutation_p.H219Q			Q9HCM2	PLXA4_HUMAN	plexin A4	219	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGAACTCATCATGGAAGACGT	0.507000													38	75					0	0	0.006999	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250767	26250767	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:26250767T>G	ENST00000446824.2	-	1	68	c.67A>C	c.(67-69)Act>Cct	p.T23P		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	23					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						GCCGCCTTAGTGGCCAGCTGC	0.607000													33	56					0	0	0.012213	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396358	22396358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:22396358G>T	ENST00000263160.3	+	9	1536	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCCTATTGGGGGACAAATTGC	0.383000													36	69					1.23537e-32	1.91464e-32	0.004289	1	0
FAM199X	139231	broad.mit.edu	37	X	103431141	103431141	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:103431141G>A	ENST00000493442.1	+	4	734	c.567_splice	c.e4-1	p.V190_splice	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	190										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATCACATAGGTGGAATATAT	0.333000													12	9					0	0	0.001368	0	0
LHFPL1	340596	broad.mit.edu	37	X	111903860	111903860	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:111903860T>A	ENST00000371968.3	-	3	715	c.476A>T	c.(475-477)cAg>cTg	p.Q159L	LHFPL1_ENST00000536453.1_Intron|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	159						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTTACCTAACTGAAATTGATT	0.473000													80	58					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49672370	49672370	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:49672370G>A	ENST00000561648.1	-	4	746	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ZNF423_ENST00000562520.1_Silent_p.F171F|ZNF423_ENST00000262383.2_Silent_p.F231F|ZNF423_ENST00000563137.2_Silent_p.F171F|ZNF423_ENST00000567169.1_Silent_p.F114F|ZNF423_ENST00000535559.1_Silent_p.F114F|ZNF423_ENST00000562871.1_Silent_p.F171F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	231					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTGGAGGAGAAGCCGCGCT	0.582000													12	38					0	0	0.001368	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506573	27506573	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:27506573C>A	ENST00000356183.4	-	15	2606	c.2591G>T	c.(2590-2592)gGt>gTt	p.G864V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G864V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	864						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGGTGACACCATCTTGGCT	0.642000													18	49					2.5808e-16	3.76122e-16	0.006122	1	0
GRM8	2918	broad.mit.edu	37	7	126746640	126746640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:126746640G>T	ENST00000339582.2	-	3	1445	c.637C>A	c.(637-639)Ctg>Atg	p.L213M	GRM8_ENST00000405249.1_Missense_Mutation_p.L213M|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.L213M|GRM8_ENST00000358373.3_Missense_Mutation_p.L213M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	213					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCCATCCCAGTGCTGTCACG	0.522000										HNSCC(24;0.065)			16	38					2.35188e-11	3.26969e-11	0.006122	1	0
MARCH1	55016	broad.mit.edu	37	4	164534585	164534585	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:164534585G>C	ENST00000339875.5	-	1	101	c.72C>G	c.(70-72)taC>taG	p.Y24*	MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGTTAAGGTAATACATGG	0.403000													8	14					0	0	0.006214	0	0
ABCC12	94160	broad.mit.edu	37	16	48142410	48142410	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:48142410G>T	ENST00000311303.3	-	17	2657	c.2312C>A	c.(2311-2313)tCc>tAc	p.S771Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.S768Y	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	771						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCCTGGGGGGATTCAGTCTG	0.507000													18	47					5.3912e-06	6.31436e-06	0.006122	1	0
KIF2B	84643	broad.mit.edu	37	17	51900665	51900665	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:51900665C>G	ENST00000268919.4	+	1	427	c.271C>G	c.(271-273)Ccg>Gcg	p.P91A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	91					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACACCCCATGCCGCCCCCGCC	0.577000													79	92					0	0	0.003610	0	0
TMEM220	388335	broad.mit.edu	37	17	10628394	10628394	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:10628394G>A	ENST00000341871.3	-	4	685	c.221C>T	c.(220-222)gCt>gTt	p.A74V	TMEM220_ENST00000578345.1_Missense_Mutation_p.A64V|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.A64V	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	74						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CAAGCCAACAGCCCACACCGT	0.448000													27	50					0	0	0.005443	0	0
ZNF99	7652	broad.mit.edu	37	19	22952127	22952127	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:22952127C>A	ENST00000397104.3	-	2	66		c.e2-1		ZNF99_ENST00000596209.1_Splice_Site					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCAACGATCCCTGAAAAACAC	0.393000													13	22					0.00010058	0.000113152	0.001368	1	0
RTN3	10313	broad.mit.edu	37	11	63486197	63486197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:63486197G>C	ENST00000377819.5	+	3	377	c.223G>C	c.(223-225)Gat>Cat	p.D75H	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D56H|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	75					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTTTGCTCTGATGAGCCATC	0.373000													5	18					0	0	0.001984	0	0
WDR19	57728	broad.mit.edu	37	4	39245931	39245931	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:39245931C>A	ENST00000399820.3	+	22	2639	c.2485C>A	c.(2485-2487)Cga>Aga	p.R829R	WDR19_ENST00000288634.7_Silent_p.R669R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	829					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGACATACGTCGAGGGGTTAA	0.463000													22	60					6.44725e-10	8.54636e-10	0.002299	1	0
CHAT	1103	broad.mit.edu	37	10	50857604	50857604	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:50857604C>G	ENST00000395562.2	+	11	1656	c.1187C>G	c.(1186-1188)cCc>cGc	p.P396R	CHAT_ENST00000395559.2_Missense_Mutation_p.P360R|CHAT_ENST00000339797.1_Missense_Mutation_p.P360R|CHAT_ENST00000455728.2_Missense_Mutation_p.P360R|CHAT_ENST00000337653.2_Missense_Mutation_p.P478R|CHAT_ENST00000351556.3_Missense_Mutation_p.P360R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	478				V -> L (in Ref. 6; AAB23557).	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGCGAGCTCCCCGCCCCCCGG	0.617000													16	61					0	0	0.003163	0	0
ZNF827	152485	broad.mit.edu	37	4	146823717	146823717	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:146823717C>G	ENST00000508784.1	-	2	921	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	ZNF827_ENST00000379448.4_Missense_Mutation_p.E232Q|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATGGTCTCCTCAGTCCTGGTG	0.502000													13	25					0	0	0.001368	0	0
SYTL4	94121	broad.mit.edu	37	X	99931094	99931094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:99931094G>T	ENST00000455616.1	-	18	2293	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	SYTL4_ENST00000372989.1_Nonsense_Mutation_p.Y649*|SYTL4_ENST00000263033.5_Nonsense_Mutation_p.Y649*|SYTL4_ENST00000276141.6_Nonsense_Mutation_p.Y649*|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_Nonsense_Mutation_p.Y651*			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	649					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGACCCTGGGTACTGTCGCA	0.562000													17	10					1.96292e-10	2.64299e-10	0.010504	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3391920	3391920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:3391920G>T	ENST00000324266.5	+	2	721	c.526G>T	c.(526-528)Gag>Tag	p.E176*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.E176*	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	176							binding										GGACGGCTTCGAGCCGCAGAT	0.736000													4	12					1.23904e-05	1.42838e-05	0.000602	1	0
ANKFN1	162282	broad.mit.edu	37	17	54558038	54558038	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:54558038G>C	ENST00000566473.2	+	16	1959	c.1959G>C	c.(1957-1959)tgG>tgC	p.W653C	ANKFN1_ENST00000318698.2_Missense_Mutation_p.W653C			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	653										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAGAGGAATGGGAATGGATCC	0.408000													25	50					0	0	0.003330	0	0
WDR17	116966	broad.mit.edu	37	4	177067163	177067163	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:177067163G>T	ENST00000393643.2	+	12	1799	c.1547G>T	c.(1546-1548)gGc>gTc	p.G516V	WDR17_ENST00000508596.1_Missense_Mutation_p.G516V|WDR17_ENST00000507824.2_Missense_Mutation_p.G523V|WDR17_ENST00000280190.4_Missense_Mutation_p.G540V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	540										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAGCCACTGGCTGTGAAGAC	0.323000													12	16					7.03913e-09	9.07304e-09	0.001368	1	0
SUSD4	55061	broad.mit.edu	37	1	223408349	223408349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:223408349G>A	ENST00000344029.6	-	6	963	c.818C>T	c.(817-819)tCt>tTt	p.S273F	SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000343846.3_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000366878.4_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGGGTGGGAGAGGACTTTAA	0.443000													15	52					0	0	0.004990	0	0
ATP2A3	489	broad.mit.edu	37	17	3845945	3845945	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:3845945G>A	ENST00000309890.7	-	12	1650	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	ATP2A3_ENST00000397035.3_Silent_p.P500P|ATP2A3_ENST00000359983.3_Silent_p.P500P|ATP2A3_ENST00000397041.3_Silent_p.P500P|ATP2A3_ENST00000397043.3_Silent_p.P500P|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.P500P	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	500					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GAGGGCGGGTGGGCGTGCAGT	0.652000													15	59					0	0	0.004990	0	0
MYH15	22989	broad.mit.edu	37	3	108102458	108102458	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:108102458C>G	ENST00000273353.3	-	41	5866	c.5810G>C	c.(5809-5811)aGa>aCa	p.R1937T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1937						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCAAACTCTCTTGCTTTAAT	0.373000													28	75					0	0	0.005443	0	0
MYO5B	4645	broad.mit.edu	37	18	47518664	47518664	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:47518664G>A	ENST00000285039.7	-	6	1049	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	250	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V250V(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)		TCACCTGGAAGACCACTCTGG	0.502000													38	137					0	0	0.005524	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:38406338G>C	ENST00000322350.5	+	7	1169	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000													6	31					0	0	0.001168	0	0
ALX1	8092	broad.mit.edu	37	12	85677392	85677392	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:85677392C>G	ENST00000316824.3	+	2	424	c.269C>G	c.(268-270)aCc>aGc	p.T90S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	90					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCCTTCACACCGAACTGAAT	0.448000													11	44					0	0	0.010729	0	0
INHBC	3626	broad.mit.edu	37	12	57843178	57843178	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:57843178C>A	ENST00000309668.2	+	2	559	c.432C>A	c.(430-432)acC>acA	p.T144T	INHBC_ENST00000550133.1_Silent_p.T144T	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	144					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTTCCAATACCACTTGGACCT	0.522000													50	135					1.66251e-12	2.33023e-12	0.003610	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222390	140222390	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:140222390T>A	ENST00000531613.1	+	1	1484	c.1484T>A	c.(1483-1485)gTg>gAg	p.V495E	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V495E|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGCTTGTGGAGCGGCGG	0.657000													25	56					0	0	0.004289	0	0
DOCK1	1793	broad.mit.edu	37	10	129046299	129046299	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:129046299A>G	ENST00000280333.6	+	28	2921	c.2812A>G	c.(2812-2814)Att>Gtt	p.I938V	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	938					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGACAGCTATTTTACGACA	0.413000													7	35					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36873498	36873498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:36873498G>C	ENST00000301807.6	-	21	7691	c.5794C>G	c.(5794-5796)Ctc>Gtc	p.L1932V	TRANK1_ENST00000428977.2_Missense_Mutation_p.L1932V|TRANK1_ENST00000429976.2_Missense_Mutation_p.L2482V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2482					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTAGGAGAGATGGAACCGG	0.488000													33	51					0	0	0.010818	0	0
GSDMA	284110	broad.mit.edu	37	17	38122058	38122058	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:38122058C>T	ENST00000301659.4	+	2	236	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	40					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGCCTGGTGCTGAGGAAGAG	0.622000													8	4					0	0	0.006214	0	0
SYNE2	23224	broad.mit.edu	37	14	64469988	64469988	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:64469988T>A	ENST00000358025.3	+	30	4567	c.4337T>A	c.(4336-4338)gTg>gAg	p.V1446E	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.V1446E|SYNE2_ENST00000554584.1_Missense_Mutation_p.V1446E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1446					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCAAGATGTGCAGAGTCAA	0.378000													10	40					0	0	0.006214	0	0
ZNF800	168850	broad.mit.edu	37	7	127017249	127017249	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:127017249T>C	ENST00000393313.1	-	4	883	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	ZNF800_ENST00000265827.3_Missense_Mutation_p.M98V|ZNF800_ENST00000393312.1_Missense_Mutation_p.M98V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTGTCATCCATCTGGAGACTT	0.323000													10	46					0	0	0.010729	0	0
DUSP11	8446	broad.mit.edu	37	2	73993544	73993544	+	Splice_Site	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:73993544C>T	ENST00000272444.3	-	8	977		c.e8+1		DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)						RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGAGAGGTACCTGACTGATT	0.373000													18	50					0	0	0.008871	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179599	45179599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:45179599G>T	ENST00000358777.4	+	3	961	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	CEACAM19_ENST00000403660.3_Missense_Mutation_p.A161S|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	161						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GATCCTGGCGGCCACCATCAT	0.577000													25	32					2.39556e-15	3.44237e-15	0.002780	1	0
ANKRD24	170961	broad.mit.edu	37	19	4207605	4207605	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr19:4207605G>T	ENST00000600132.1	+	9	920		c.e9+1		ANKRD24_ENST00000262970.5_Splice_Site|ANKRD24_ENST00000318934.4_Splice_Site	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCAAGGCAGGTGAGCATCTC	0.572000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	30					5.03518e-11	6.9624e-11	0.007413	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20495380	20495380	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:20495380G>A	ENST00000555186.1	+	0	583					NR_038836.1																						AAGACATGAAGAGAAAGTTTC	0.413000													10	84					0	0	0.010729	0	0
SMYD1	150572	broad.mit.edu	37	2	88383986	88383986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:88383986G>T	ENST00000419482.2	+	2	374	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	SMYD1_ENST00000438570.1_Missense_Mutation_p.G97W|SMYD1_ENST00000444564.2_Missense_Mutation_p.G97W|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAAGAGATATGGGAAGGTGCC	0.527000													12	38					9.31168e-06	1.08074e-05	0.001855	1	0
CEP41	95681	broad.mit.edu	37	7	130044478	130044478	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:130044478C>T	ENST00000223208.4	-	6	619	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CEP41_ENST00000343969.5_Missense_Mutation_p.E117K|CEP41_ENST00000541543.1_Missense_Mutation_p.E101K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	117					G2/M transition of mitotic cell cycle	centrosome|cytosol											GGCGACTGCTCACCTGGATTT	0.468000													16	53					0	0	0.004990	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141443	239141443	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:239141443G>T	ENST00000456601.1	+	0	906																											AACATGCAGAGGGAGCCAAAC	0.537000													12	31					2.80697e-09	3.66407e-09	0.010729	1	0
SEPP1	6414	broad.mit.edu	37	5	42801082	42801082	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:42801082C>A	ENST00000514985.1	-	5	1142	c.886G>T	c.(886-888)Gct>Tct	p.A296S	SEPP1_ENST00000511224.1_Missense_Mutation_p.A296S|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.A296S|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	296					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCCTAGGAGCCAACTCTGAA	0.393000													23	53					9.04412e-07	1.08403e-06	0.004656	1	0
HTR1E	3354	broad.mit.edu	37	6	87725386	87725386	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:87725386C>T	ENST00000305344.4	+	2	1037	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	HTR1E_ENST00000369584.1_Missense_Mutation_p.H112Y	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	112					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTCCATCCTCCACCTCTGTGT	0.552000													19	59					0	0	0.008871	0	0
TLR4	7099	broad.mit.edu	37	9	120476587	120476587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:120476587C>A	ENST00000355622.6	+	3	2282	c.2181C>A	c.(2179-2181)ttC>ttA	p.F727L	TLR4_ENST00000394487.4_Missense_Mutation_p.F687L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	727	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATGAAGGTTTCCATAAAAGCC	0.473000													15	34					0.000422831	0.000466479	0.004007	1	0
UBR1	197131	broad.mit.edu	37	15	43307940	43307940	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:43307940T>A	ENST00000290650.4	-	29	3233	c.3155A>T	c.(3154-3156)tAt>tTt	p.Y1052F	UBR1_ENST00000568782.1_5'UTR|UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1052					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATTGTCATACATGAGTTT	0.358000													34	91					0	0	0.002836	0	0
COL25A1	84570	broad.mit.edu	37	4	110223093	110223093	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:110223093G>C	ENST00000399132.1	-	2	613	c.83C>G	c.(82-84)gCc>gGc	p.A28G	COL25A1_ENST00000399127.1_Missense_Mutation_p.A28G|COL25A1_ENST00000399126.1_Missense_Mutation_p.A28G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	28				A -> S (in Ref. 1; AAK35008 and 2; AAK35009).		collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CATGGTCCGGGCACAATGCTG	0.677000													14	54					0	0	0.004007	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917970	56917970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:56917970C>A	ENST00000438926.2	+	14	1708	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	SLC12A3_ENST00000563236.1_Missense_Mutation_p.P560H|SLC12A3_ENST00000566786.1_Missense_Mutation_p.P559H|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P559H	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	560			P -> H (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGTGGAGACCTTCATTCCAA	0.602000													10	47					0.000442599	0.000485157	0.006214	1	0
OR6B1	135946	broad.mit.edu	37	7	143701229	143701229	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:143701229T>A	ENST00000408922.2	+	1	208	c.140T>A	c.(139-141)cTa>cAa	p.L47Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCATCATCCTATTGGTGCTG	0.507000													15	46					0	0	0.002450	0	0
CLEC16A	23274	broad.mit.edu	37	16	11097028	11097028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:11097028G>C	ENST00000409790.1	+	11	1399	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R388T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	390										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCAAAAGAGACCCAACTAC	0.542000													10	31					0	0	0.006214	0	0
TEX15	56154	broad.mit.edu	37	8	30702722	30702722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:30702722A>T	ENST00000256246.2	-	1	3886	c.3812T>A	c.(3811-3813)tTa>tAa	p.L1271*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1271										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTGAATCTAAGACTGATAT	0.348000													18	25					0	0	0.007413	0	0
POLG	5428	broad.mit.edu	37	15	89867404	89867404	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:89867404C>G	ENST00000268124.5	-	11	2337	c.2004G>C	c.(2002-2004)ctG>ctC	p.L668L	POLG_ENST00000442287.2_Silent_p.L668L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	668					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTGGGGCATCAGCTGCTGCT	0.597000								DNA polymerases (catalytic subunits)					20	54					0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124281263	124281263	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:124281263C>T	ENST00000409039.3	+	12	1718	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	565	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTATAAGAATCACCCTCCAGT	0.393000													21	32					0	0	0.012319	0	0
IQCJ	654502	broad.mit.edu	37	3	158983083	158983083	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:158983083G>A	ENST00000482126.1	+	4	395	c.290G>A	c.(289-291)gGa>gAa	p.G97E	IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G124E|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J									p.G124V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGCCTGGTGGAAGGAAGGTG	0.498000													35	81					0	0	0.002836	0	0
MAP2	4133	broad.mit.edu	37	2	210574780	210574780	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:210574780C>A	ENST00000360351.4	+	12	5381	c.4875C>A	c.(4873-4875)acC>acA	p.T1625T	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.T326T|MAP2_ENST00000447185.1_Silent_p.T1621T|MAP2_ENST00000361559.4_Silent_p.T269T|MAP2_ENST00000392194.1_Silent_p.T269T	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1625					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCCCAGGACCCCTCACACAC	0.577000													26	82					2.79863e-10	3.7388e-10	0.004656	1	0
PDE11A	50940	broad.mit.edu	37	2	178634101	178634101	+	Splice_Site	SNP	C	C	A	rs147662486		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:178634101C>A	ENST00000286063.5	-	10	2055	c.1737_splice	c.e10-1	p.V580_splice	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Splice_Site_p.V222_splice|PDE11A_ENST00000409504.1_Splice_Site_p.V222_splice|PDE11A_ENST00000389683.3_Splice_Site_p.V136_splice|PDE11A_ENST00000358450.4_Splice_Site_p.V330_splice	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	580					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TATGATAGCACCTGATTCAGA	0.313000									Primary Pigmented Nodular Adrenocortical Disease, Familial				8	25					0.00307968	0.00329828	0.003080	1	0
TBX15	6913	broad.mit.edu	37	1	119427912	119427912	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:119427912C>G	ENST00000369429.3	-	8	1261	c.1252G>C	c.(1252-1254)Gac>Cac	p.D418H	TBX15_ENST00000207157.3_Missense_Mutation_p.D312H			Q96SF7	TBX15_HUMAN	T-box 15	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCCACTGTCACTCAGCCCT	0.547000													26	32					0	0	0.003954	0	0
OR52E4	390081	broad.mit.edu	37	11	5906110	5906110	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:5906110C>A	ENST00000316987.2	+	1	610	c.588C>A	c.(586-588)atC>atA	p.I196I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTAAGATCAACATAATCT	0.453000													28	63					7.38237e-10	9.76071e-10	0.006320	1	0
ANK2	287	broad.mit.edu	37	4	114195680	114195680	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:114195680A>T	ENST00000357077.4	+	15	1611	c.1558A>T	c.(1558-1560)Atg>Ttg	p.M520L	ANK2_ENST00000506722.1_Missense_Mutation_p.M499L|ANK2_ENST00000394537.3_Missense_Mutation_p.M520L|ANK2_ENST00000264366.6_Missense_Mutation_p.M520L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	520					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTACAACATATGGCTCATCC	0.507000													25	64					0	0	0.005443	0	0
BCL2	596	broad.mit.edu	37	18	60985567	60985567	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:60985567G>A	ENST00000398117.1	-	1	1794	c.333C>T	c.(331-333)gaC>gaT	p.D111D	BCL2_ENST00000444484.1_Silent_p.D111D|BCL2_ENST00000589955.1_Silent_p.D111D|BCL2_ENST00000333681.4_Silent_p.D111D	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	111					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCTCGGCGAAGTCGCGGCGGT	0.731000			T	IGH@	"""NHL, CLL"""								22	67					0	0	0.002299	0	0
TPI1	7167	broad.mit.edu	37	12	6976815	6976815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:6976815C>G	ENST00000229270.4	+	1	533	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	TPI1_ENST00000396705.5_Missense_Mutation_p.L29V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	29					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATCGGCACTCTGAACGCGGC	0.706000													11	31					0	0	0.001368	0	0
NPNT	255743	broad.mit.edu	37	4	106859499	106859499	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:106859499G>A	ENST00000379987.2	+	5	643	c.427G>A	c.(427-429)Gat>Aat	p.D143N	NPNT_ENST00000427316.2_Missense_Mutation_p.D173N|NPNT_ENST00000506666.1_Missense_Mutation_p.D173N|NPNT_ENST00000305572.8_Missense_Mutation_p.D143N|NPNT_ENST00000514622.1_Missense_Mutation_p.D143N|NPNT_ENST00000453617.2_Missense_Mutation_p.D160N	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	143	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTATGGCTGTGATGTTGTTAA	0.498000													15	45					0	0	0.003163	0	0
PIK3R4	30849	broad.mit.edu	37	3	130403129	130403129	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:130403129G>C	ENST00000356763.3	-	16	4129	c.3572C>G	c.(3571-3573)tCa>tGa	p.S1191*	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1191					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGGTGCATTGAGAGGCGTCT	0.478000													16	48					0	0	0.006122	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518936	113518936	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:113518936T>A	ENST00000284601.3	-	4	2279	c.2211A>T	c.(2209-2211)tcA>tcT	p.S737S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	737					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGTACTTTCTGATGTTGTCT	0.433000													36	88					0	0	0.002836	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37440988	37440988	+	Splice_Site	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:37440988A>G	ENST00000374660.1	+	12	1577	c.1477_splice	c.e12-1	p.D493_splice	ANKRD30A_ENST00000361713.1_Splice_Site_p.D493_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.D493_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTTTATAGATCCGATGTTC	0.289000													16	39					0	0	0.006122	0	0
CPZ	8532	broad.mit.edu	37	4	8613770	8613770	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:8613770C>G	ENST00000429646.2	+	6	2861	c.68C>G	c.(67-69)tCc>tGc	p.S23C	CPZ_ENST00000315782.6_Missense_Mutation_p.S404C|CPZ_ENST00000360986.4_Missense_Mutation_p.S415C|CPZ_ENST00000382480.2_Missense_Mutation_p.S278C			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	415					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGCTGCTGTCCAGAGCCTAC	0.572000													11	28					0	0	0.008291	0	0
NUPR1	26471	broad.mit.edu	37	16	28549480	28549480	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:28549480T>G	ENST00000395641.2	-	2	263	c.163A>C	c.(163-165)Aca>Cca	p.T55P	NUPR1_ENST00000324873.6_Intron			O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	38					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						CCACCTCCTGTAACCAAGGCA	0.612000													32	106					0	0	0.003271	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789304	117789304	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:117789304G>C	ENST00000528626.1	-	2	344	c.271C>G	c.(271-273)Ccg>Gcg	p.P91A	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P91A|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P91A|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P91A|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P91A	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCAGAGCCGGAGATGCCCGG	0.637000													12	28					0	0	0.001368	0	0
POLQ	10721	broad.mit.edu	37	3	121228900	121228900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:121228900C>A	ENST00000264233.5	-	11	1930	c.1802G>T	c.(1801-1803)aGt>aTt	p.S601I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	601					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTCCATCACTGGCTTCTGT	0.408000								DNA polymerases (catalytic subunits)					23	60					1.10923e-09	1.45907e-09	0.002780	1	0
WDR96	80217	broad.mit.edu	37	10	105903276	105903276	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:105903276C>A	ENST00000357060.3	-	32	4181	c.4066G>T	c.(4066-4068)Gac>Tac	p.D1356Y	WDR96_ENST00000428666.1_Missense_Mutation_p.D1328Y	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1356										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTAATATTGTCCAACTCATCC	0.428000													9	22					1.76689e-08	2.2436e-08	0.006214	1	0
RSPRY1	89970	broad.mit.edu	37	16	57254731	57254731	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:57254731A>G	ENST00000537866.1	+	9	1862	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.Y330C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	330	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GTCAGCGAGTACCTGAAGATC	0.428000													5	33					0	0	0.001168	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726839	32726839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:32726839G>T	ENST00000435145.2	-	3	495	c.434C>A	c.(433-435)tCg>tAg	p.S145*	HLA-DQB2_ENST00000437316.2_Nonsense_Mutation_p.S145*|HLA-DQB2_ENST00000411527.1_Nonsense_Mutation_p.S145*			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	145					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ATCTGTCACCGAGCAGACCAG	0.547000													14	74					1.5842e-08	2.03174e-08	0.001855	1	0
FAM57B	83723	broad.mit.edu	37	16	30038023	30038023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:30038023G>T	ENST00000380495.4	-	3	1082	c.351C>A	c.(349-351)agC>agA	p.S117R	FAM57B_ENST00000564806.1_Missense_Mutation_p.S67R|FAM57B_ENST00000279389.4_Missense_Mutation_p.S67R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	117	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGCCCACGTGCTGCCCGGGG	0.612000													14	23					4.36969e-10	5.80739e-10	0.001855	1	0
PRKD1	5587	broad.mit.edu	37	14	30100163	30100163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:30100163C>A	ENST00000331968.5	-	10	1686	c.1457G>T	c.(1456-1458)gGg>gTg	p.G486V	PRKD1_ENST00000415220.2_Missense_Mutation_p.G494V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	486	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGATTGGCCCCATTAGGAAT	0.358000													18	52					1.67942e-08	2.14313e-08	0.006122	1	0
SLC1A3	6507	broad.mit.edu	37	5	36680629	36680629	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:36680629T>A	ENST00000265113.4	+	8	1703	c.1227T>A	c.(1225-1227)gcT>gcA	p.A409A	SLC1A3_ENST00000381918.3_Silent_p.A409A|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	409					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGGCTTTGGCTGCCATTTTCA	0.448000													5	69					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203340	140203340	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr5:140203340C>T	ENST00000529859.1	+	1	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.A660A|PCDHA5_ENST00000529619.1_Silent_p.A660A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGACAGCCACAGCCACAG	0.682000													27	40					0	0	0.005443	0	0
TNIP3	79931	broad.mit.edu	37	4	122062978	122062978	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:122062978T>G	ENST00000454328.1	-	11	1105	c.878A>C	c.(877-879)gAg>gCg	p.E293A	TNIP3_ENST00000509841.1_Missense_Mutation_p.E370A|TNIP3_ENST00000507879.1_Missense_Mutation_p.E363A|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.E293A			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	293										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TACTGGGTGCTCCCGTTGCTT	0.448000													3	34					0	0	0.004672	0	0
COL2A1	1280	broad.mit.edu	37	12	48379325	48379325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:48379325C>T	ENST00000380518.3	-	26	1890	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G507S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	576	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACAGAAGGGCCAACTTTGCCT	0.602000													42	105					0	0	0.003610	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123428	60123428	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:60123428T>C	ENST00000373910.4	+	4	407	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CGACAGATTATCCTTTTAAAC	0.328000													10	18					0	0	0.002450	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385287	26385287	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:26385287G>T	ENST00000356709.4	+	3	250	c.139G>T	c.(139-141)Gtg>Ttg	p.V47L	BTN2A2_ENST00000416795.2_Missense_Mutation_p.V47L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.V47L|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V47L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	47	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTGGCCATGGTGGGAGAAAA	0.527000													20	49					1.2644e-06	1.51198e-06	0.010504	1	0
PHF8	23133	broad.mit.edu	37	X	54011568	54011568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:54011568G>C	ENST00000338154.6	-	18	2726	c.2222C>G	c.(2221-2223)tCt>tGt	p.S741C	PHF8_ENST00000322659.8_Missense_Mutation_p.S724C|PHF8_ENST00000338946.6_Missense_Mutation_p.S640C|PHF8_ENST00000357988.5_Missense_Mutation_p.S777C	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	777					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGCAGGCTAGAGGTAGCCGG	0.642000													9	3					0	0	0.004482	0	0
GSDMA	284110	broad.mit.edu	37	17	38122578	38122578	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:38122578G>A	ENST00000301659.4	+	3	398	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	94					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GGGAGATGTGGATGTACCAAA	0.562000													25	62					0	0	0.004656	0	0
UCHL1	7345	broad.mit.edu	37	4	41262814	41262814	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:41262814G>T	ENST00000284440.4	+	4	469	c.325_splice	c.e4+1	p.E109_splice	UCHL1_ENST00000508768.1_Splice_Site_p.E109_splice|UCHL1_ENST00000512788.1_Splice_Site_p.E109_splice|UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000503431.1_Splice_Site_p.E109_splice	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	109					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ACTGGGATTTGGTAGGTGTGG	0.453000													22	85					3.01185e-09	3.92152e-09	0.003954	1	0
IGLL1	3543	broad.mit.edu	37	22	23915743	23915743	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr22:23915743G>A	ENST00000249053.3	-	2	284	c.236C>T	c.(235-237)tCt>tTt	p.S79F	IGLL1_ENST00000330377.2_Silent_p.L118L	NM_152855.2	NP_690594.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	0					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGCGGGAACAGAGTGACCGAG	0.592000													15	49					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	2855595	2855595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:2855595C>T	ENST00000520002.1	-	55	8873	c.8318G>A	c.(8317-8319)gGc>gAc	p.G2773D	CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2773D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2773	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGAGACACGCCCTGCAGCAA	0.567000													18	34					0	0	0.006122	0	0
CEBPE	1053	broad.mit.edu	37	14	23588250	23588250	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:23588250T>A	ENST00000206513.5	-	1	575	c.51A>T	c.(49-51)ccA>ccT	p.P17P		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGAACTCGAGTGGCTGCTGGC	0.692000													19	39					0	0	0.006122	0	0
TRPS1	7227	broad.mit.edu	37	8	116599318	116599318	+	Silent	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:116599318T>G	ENST00000395715.3	-	5	3187	c.2610A>C	c.(2608-2610)ccA>ccC	p.P870P	TRPS1_ENST00000520276.1_Silent_p.P861P|TRPS1_ENST00000519674.1_Silent_p.P857P|TRPS1_ENST00000220888.5_Silent_p.P857P|TRPS1_ENST00000519076.1_Silent_p.P611P	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	857					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCCGCCAGCTGGCGCCCCCT	0.577000									Langer-Giedion syndrome				8	68					0	0	0.003080	0	0
PAQR3	152559	broad.mit.edu	37	4	79860372	79860372	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:79860372G>C	ENST00000512733.1	-	1	220	c.7C>G	c.(7-9)Cag>Gag	p.Q3E	PAQR3_ENST00000380645.4_Missense_Mutation_p.Q3E|PAQR3_ENST00000295462.3_Missense_Mutation_p.Q3E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	3						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AGCAGCTTCTGATGCATCGTT	0.716000													14	46					0	0	0.001855	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819029	159819029	+	RNA	SNP	A	A	G	rs111766443	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:159819029A>G	ENST00000497452.1	-	0	517																											CAAGAAGTAGAACAGACACCC	0.433000													3	68					0	0	0.004672	0	0
C11orf85	283129	broad.mit.edu	37	11	64707202	64707202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:64707202G>T	ENST00000301896.5	-	10	657	c.584C>A	c.(583-585)tCc>tAc	p.S195Y	C11orf85_ENST00000432175.1_Missense_Mutation_p.S195Y|C11orf85_ENST00000530444.1_Silent_p.V138V|C11orf85_ENST00000536065.1_Silent_p.V110V	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	195										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GCAGGGGTGGGACAATTCGCC	0.532000													16	35					8.00594e-06	9.31303e-06	0.007413	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789488	34789488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:34789488C>A	ENST00000192788.5	+	2	274	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q35K	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	35										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGGGAGGGTCAGCTGACCAA	0.483000													17	37					4.14922e-12	5.79986e-12	0.004007	1	0
SCN7A	6332	broad.mit.edu	37	2	167328887	167328887	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:167328887C>A	ENST00000409855.1	-	5	638	c.512G>T	c.(511-513)gGa>gTa	p.G171V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	171					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGAAAATGATCCTGCCCAGAC	0.348000													7	13					8.12818e-05	9.20477e-05	0.001984	1	0
TCEB3	6924	broad.mit.edu	37	1	24078002	24078002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:24078002G>T	ENST00000418390.2	+	4	1256	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	329					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAAGAGAAGGACAGAGAGGG	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	50					2.27111e-07	2.75433e-07	0.001368	1	0
IRS1	3667	broad.mit.edu	37	2	227661394	227661394	+	Silent	SNP	G	G	A	rs138975702	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:227661394G>A	ENST00000305123.4	-	1	3081	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	687					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AAGGGACGGCGTtgctgctgc	0.622000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	54					0	0	0.007413	0	0
DDX24	57062	broad.mit.edu	37	14	94545588	94545588	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:94545588C>T	ENST00000330836.5	-	2	632	c.501G>A	c.(499-501)caG>caA	p.Q167Q	DDX24_ENST00000555054.1_Silent_p.Q124Q|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	167					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CAGCAGTGCTCTGAGAAGGCT	0.468000													19	106					0	0	0.010504	0	0
SYNE1	23345	broad.mit.edu	37	6	152501415	152501415	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:152501415C>G	ENST00000367255.5	-	129	23917	c.23316G>C	c.(23314-23316)cgG>cgC	p.R7772R	SYNE1_ENST00000356820.4_Silent_p.R2296R|SYNE1_ENST00000423061.1_Silent_p.R7701R|SYNE1_ENST00000448038.1_Silent_p.R7701R|SYNE1_ENST00000265368.4_Silent_p.R7772R|SYNE1_ENST00000341594.5_Silent_p.R7384R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7772					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATTTGCTGCCGCCTTAAGG	0.393000										HNSCC(10;0.0054)			13	33					0	0	0.001368	0	0
PFKL	5211	broad.mit.edu	37	21	45732017	45732017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr21:45732017C>G	ENST00000403390.1	+	5	408	c.408C>G	c.(406-408)tgC>tgG	p.C136W	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.C89W			P17858	K6PL_HUMAN	phosphofructokinase, liver	89					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGCTCGCTGCAAGGCCTTTA	0.652000													6	6					0	0	0.004482	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38660067	38660067	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:38660067C>A	ENST00000494540.1	+	0	846					NR_003086.1																						AGTGCCACCACTGGCTTTGGA	0.418000													15	35					0.00316338	0.00338086	0.003163	1	0
USP7	7874	broad.mit.edu	37	16	9012974	9012974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:9012974C>A	ENST00000344836.4	-	6	832	c.634G>T	c.(634-636)Ggc>Tgc	p.G212C	USP7_ENST00000535863.1_Missense_Mutation_p.G113C|USP7_ENST00000381886.4_Missense_Mutation_p.G196C	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	212					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGACGTAGCCTGTGTGCTTC	0.463000													25	68					9.57634e-11	1.31355e-10	0.003330	1	0
CFAP54	144535	broad.mit.edu	37	12	97102515	97102515	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:97102515G>C	ENST00000524981.3	+	15	2011	c.2011G>C	c.(2011-2013)Gtc>Ctc	p.V671L				Q6ZTY8	CL063_HUMAN		645										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATAAATTGTGTCCCAGAAAA	0.333000													16	39					0	0	0.006122	0	0
ARAP2	116984	broad.mit.edu	37	4	36118683	36118683	+	Splice_Site	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:36118683C>G	ENST00000303965.4	-	25	4527	c.4038_splice	c.e25+1	p.R1346_splice		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGAACTTACCCGAATTATAA	0.328000													8	20					0	0	0.008291	0	0
HFE2	148738	broad.mit.edu	37	1	145415334	145415334	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:145415334G>C	ENST00000336751.5	+	3	391	c.153G>C	c.(151-153)ctG>ctC	p.L51L	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	51					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGTCCACTCTGAGCCTTAGAG	0.592000													22	76					0	0	0.002299	0	0
EEF1D	1936	broad.mit.edu	37	8	144663466	144663466	+	Silent	SNP	G	G	A	rs2305493		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:144663466G>A	ENST00000532741.1	-	4	1698	c.1470C>T	c.(1468-1470)agC>agT	p.S490S	EEF1D_ENST00000395119.3_Silent_p.S74S|EEF1D_ENST00000528610.1_Silent_p.S50S|EEF1D_ENST00000423316.2_Silent_p.S440S|EEF1D_ENST00000529272.1_Silent_p.S74S|EEF1D_ENST00000524624.1_Silent_p.S50S|EEF1D_ENST00000442189.2_Silent_p.S440S|EEF1D_ENST00000419152.2_Silent_p.S74S|EEF1D_ENST00000317198.6_Silent_p.S74S|EEF1D_ENST00000526838.1_Silent_p.S74S|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000531621.1_Silent_p.S50S			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	74					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGTGGTCTCCGCTGGTGCCGC	0.697000													15	29					0	0	0.004990	0	0
CFHR1	3078	broad.mit.edu	37	1	196797209	196797209	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:196797209G>T	ENST00000320493.5	+	4	528	c.440G>T	c.(439-441)tGt>tTt	p.C147F	CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	147	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACACTTCCTGTGTGAATCCG	0.378000													16	20					1.74485e-21	2.64043e-21	0.007413	1	0
OSBPL11	114885	broad.mit.edu	37	3	125297869	125297869	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:125297869C>G	ENST00000296220.5	-	4	713	c.424G>C	c.(424-426)Gag>Cag	p.E142Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	142	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGCTGTCGCTCTTTTGCATCT	0.303000													9	19					0	0	0.010729	0	0
TENM3	55714	broad.mit.edu	37	4	183694726	183694726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:183694726C>G	ENST00000511685.1	+	23	5117	c.4994C>G	c.(4993-4995)tCa>tGa	p.S1665*	RP11-18D7.2_ENST00000513255.1_RNA|TENM3_ENST00000406950.2_Nonsense_Mutation_p.S1665*					teneurin transmembrane protein 3																		GACATTGAGTCATCTAGCCGA	0.438000													43	44					0	0	0.008740	0	0
DDX50	79009	broad.mit.edu	37	10	70696766	70696766	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:70696766G>A	ENST00000373585.3	+	12	1777	c.1670G>A	c.(1669-1671)gGt>gAt	p.G557D	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	557						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GAAGAGAAAGGTGCAGTGGAT	0.438000													25	82					0	0	0.003954	0	0
KDM5C	8242	broad.mit.edu	37	X	53245268	53245268	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:53245268G>C	ENST00000452825.3	-	4	1100	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	KDM5C_ENST00000404049.3_Missense_Mutation_p.L256V|KDM5C_ENST00000375383.3_Missense_Mutation_p.L216V|KDM5C_ENST00000375401.3_Missense_Mutation_p.L257V|KDM5C_ENST00000375379.3_Missense_Mutation_p.L257V	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	257					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCTTCCGCAGAGTCTTGTCT	0.522000			"""N, F, S"""		clear cell renal carcinoma								26	23					0	0	0.003954	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639360	18639360	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:18639360A>C	ENST00000380548.4	+	7	1124	c.785A>C	c.(784-786)aAa>aCa	p.K262T	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTCCAGACAAAGAGATACTG	0.443000													11	14					0	0	0.008291	0	0
NRAP	4892	broad.mit.edu	37	10	115384682	115384682	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:115384682T>G	ENST00000369358.4	-	22	2520	c.2276A>C	c.(2275-2277)tAc>tCc	p.Y759S	NRAP_ENST00000369360.3_Missense_Mutation_p.Y724S|NRAP_ENST00000359988.3_Missense_Mutation_p.Y751S|NRAP_ENST00000360478.3_Missense_Mutation_p.Y716S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	751						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTGCCTTGTAGGCCACCTG	0.567000													30	70					0	0	0.008361	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951777	235951777	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:235951777G>C	ENST00000409212.1	+	4	2871	c.2364G>C	c.(2362-2364)cgG>cgC	p.R788R	SH3BP4_ENST00000344528.4_Silent_p.R788R|SH3BP4_ENST00000392011.2_Silent_p.R788R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	788					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTTTCTGCCGGGCAGAGCTGG	0.582000													12	43					0	0	0.001855	0	0
CNTN5	53942	broad.mit.edu	37	11	100061877	100061877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:100061877G>A	ENST00000524871.1	+	14	1890	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R	CNTN5_ENST00000527185.1_Missense_Mutation_p.G534R|CNTN5_ENST00000279463.3_Missense_Mutation_p.G534R|CNTN5_ENST00000528682.1_Missense_Mutation_p.G534R|CNTN5_ENST00000418526.2_Missense_Mutation_p.G460R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	534	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G534W(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTTCCAGACGGGAGTCTACG	0.368000													8	23					0	0	0.004482	0	0
MTX2	10651	broad.mit.edu	37	2	177193077	177193077	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:177193077C>G	ENST00000392529.2	+	7	717	c.312C>G	c.(310-312)taC>taG	p.Y104*	MTX2_ENST00000249442.6_Nonsense_Mutation_p.Y114*|MTX2_ENST00000443241.1_Nonsense_Mutation_p.Y58*			O75431	MTX2_HUMAN	metaxin 2	114					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGAAAGCTTACATGGAATTAG	0.318000													31	108					0	0	0.002836	0	0
NRP1	8829	broad.mit.edu	37	10	33510716	33510716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:33510716G>A	ENST00000265371.4	-	9	1738	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.R405*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.R405*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R405*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R405*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R405*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R405*			O14786	NRP1_HUMAN	neuropilin 1	405	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGCTTGATTCGGACAAATCGA	0.428000													32	70					0	0	0.010818	0	0
POLI	11201	broad.mit.edu	37	18	51818291	51818291	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:51818291C>A	ENST00000579534.1	+	9	1430	c.1287C>A	c.(1285-1287)acC>acA	p.T429T	POLI_ENST00000579434.1_Silent_p.T326T|POLI_ENST00000406285.3_Silent_p.T350T|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Silent_p.T303T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	429					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TTCACCTTACCCTTCTAAGTG	0.338000								DNA polymerases (catalytic subunits)					19	60					1.56452e-12	2.19891e-12	0.007413	1	0
CEND1	51286	broad.mit.edu	37	11	788546	788546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:788546G>T	ENST00000330106.4	-	2	206	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	11						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGGGCTTGGGGCTGCTGGCT	0.672000													59	78					1.12612e-26	1.72963e-26	0.003610	1	0
S100A7	6278	broad.mit.edu	37	1	153430296	153430296	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:153430296C>A	ENST00000368723.3	-	3	402	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	S100A7_ENST00000368722.1_Missense_Mutation_p.G98W	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	98					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			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)			TGGCTGCCCCCGGAACAGGGC	0.517000													12	58					2.27111e-07	2.75433e-07	0.001368	1	0
C9orf3	84909	broad.mit.edu	37	9	97535320	97535320	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr9:97535320C>G	ENST00000375315.2	+	2	834	c.834C>G	c.(832-834)aaC>aaG	p.N278K	C9orf3_ENST00000297979.5_Missense_Mutation_p.N278K|C9orf3_ENST00000277198.2_Missense_Mutation_p.N278K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	278					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CCATAAACAACAGGGCCCTTT	0.458000													27	61					0	0	0.007291	0	0
CD163	9332	broad.mit.edu	37	12	7651686	7651686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:7651686C>A	ENST00000359156.4	-	4	758	c.556G>T	c.(556-558)Gat>Tat	p.D186Y	CD163_ENST00000396620.3_Missense_Mutation_p.D186Y|CD163_ENST00000432237.2_Missense_Mutation_p.D186Y|CD163_ENST00000541972.1_Missense_Mutation_p.D174Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	186	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTGAAGTTATCATCACACACT	0.428000													60	180					2.01871e-26	3.09134e-26	0.003610	1	0
SYNE1	23345	broad.mit.edu	37	6	152698034	152698034	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr6:152698034G>A	ENST00000367255.5	-	57	9624	c.9023C>T	c.(9022-9024)gCt>gTt	p.A3008V	SYNE1_ENST00000423061.1_Missense_Mutation_p.A3015V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3015V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3008V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3047V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3008					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTTGCAAAGCATCCAGTAT	0.398000										HNSCC(10;0.0054)			7	31					0	0	0.001984	0	0
OR4K1	79544	broad.mit.edu	37	14	20404508	20404508	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:20404508G>T	ENST00000285600.4	+	1	742	c.683G>T	c.(682-684)aGg>aTg	p.R228M		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCCGATGCAGGTCCTCCAGT	0.428000													19	50					5.3912e-06	6.31436e-06	0.006122	1	0
EGFR	1956	broad.mit.edu	37	7	55223531	55223531	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:55223531G>A	ENST00000275493.2	+	8	1075	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	EGFR_ENST00000344576.2_Missense_Mutation_p.V300M|EGFR_ENST00000455089.1_Missense_Mutation_p.V255M|EGFR_ENST00000454757.2_Missense_Mutation_p.V247M|EGFR_ENST00000420316.2_Missense_Mutation_p.V300M|EGFR_ENST00000442591.1_Missense_Mutation_p.V300M|EGFR_ENST00000342916.3_Missense_Mutation_p.V300M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	300					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGGTAATTATGTGGTGACAGA	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	52					0	0	0.004990	0	0
NXPE4	54827	broad.mit.edu	37	11	114453234	114453234	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:114453234C>T	ENST00000375478.3	-	3	786	c.606G>A	c.(604-606)gtG>gtA	p.V202V	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CAGTGAAGATCACCCTGTCAT	0.527000													6	59					0	0	0.001168	0	0
PROS1	5627	broad.mit.edu	37	3	93646163	93646163	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:93646163T>G	ENST00000394236.3	-	2	481	c.165A>C	c.(163-165)gaA>gaC	p.E55D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	55	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGCATTCTCTTTCAAGATTAC	0.408000													28	54					0	0	0.007291	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213140	56213140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:56213140C>A	ENST00000243045.5	+	3	384	c.189C>A	c.(187-189)ttC>ttA	p.F63L	RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000552672.1_Missense_Mutation_p.F29L|ORMDL2_ENST00000550836.1_5'UTR|ORMDL2_ENST00000548974.1_Missense_Mutation_p.F63L	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	63					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						CGTATGTCTTCCTTCATACGG	0.478000													64	138					1.53716e-24	2.34691e-24	0.003610	1	0
COL24A1	255631	broad.mit.edu	37	1	86590553	86590553	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:86590553C>G	ENST00000370571.2	-	3	1832	c.1466G>C	c.(1465-1467)gGg>gCg	p.G489A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G489A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	489	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTTTTGGCCCTCTCAGATA	0.308000													5	15					0	0	0.001168	0	0
CHRDL1	91851	broad.mit.edu	37	X	110005943	110005943	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:110005943C>A	ENST00000218054.4	-	3	383	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	CHRDL1_ENST00000394797.4_Missense_Mutation_p.V63L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V63L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V57L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V63L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V63L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V63L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	57	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATGCAGTTCACGCAGTAAACC	0.478000													18	17					1.96292e-10	2.64299e-10	0.010504	1	0
INHBC	3626	broad.mit.edu	37	12	57843177	57843177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:57843177C>G	ENST00000309668.2	+	2	558	c.431C>G	c.(430-432)aCc>aGc	p.T144S	INHBC_ENST00000550133.1_Missense_Mutation_p.T144S	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	144					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTCCAATACCACTTGGACC	0.522000													45	136					0	0	0.011902	0	0
TSPAN11	441631	broad.mit.edu	37	12	31132537	31132537	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr12:31132537C>A	ENST00000261177.9	+	5	447	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	TSPAN11_ENST00000535215.1_Missense_Mutation_p.L59M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L120M|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L130M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	130						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAACCGGACTCTGGCTGAGAA	0.632000													15	51					1.3612e-06	1.62018e-06	0.003163	1	0
WNT9A	7483	broad.mit.edu	37	1	228111886	228111886	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:228111886C>T	ENST00000272164.5	-	3	578	c.568G>A	c.(568-570)Gat>Aat	p.D190N	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	190					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCTCGCAGATCCTTGCTTGAC	0.612000													22	78					0	0	0.003954	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976323	89976323	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:89976323C>A	ENST00000474213.1	+	0	229																											CAGCAGAGGCCAGGCCAATCT	0.532000													30	89					3.38236e-24	5.14881e-24	0.006999	1	0
FAIM3	9214	broad.mit.edu	37	1	207085160	207085160	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:207085160T>C	ENST00000367091.3	-	4	768	c.625A>G	c.(625-627)Aca>Gca	p.T209A	FAIM3_ENST00000420007.2_Missense_Mutation_p.T209A|FAIM3_ENST00000442471.2_Missense_Mutation_p.T97A|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	209					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTGAGGCTGTAGTGGATGGC	0.592000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	64					0	0	0.004007	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661516	22661516	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr22:22661516C>T	ENST00000426066.1	+	0	406					NR_027293.1																						CCTCAAGTCCCGAGATCCAAT	0.458000													4	37					0	0	0.003080	0	0
SCAPER	49855	broad.mit.edu	37	15	77057679	77057679	+	Splice_Site	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr15:77057679T>A	ENST00000538941.2	-	13	1813	c.875_splice	c.e13+1	p.R292_splice	SCAPER_ENST00000324767.7_Splice_Site_p.R538_splice|SCAPER_ENST00000563290.1_Splice_Site_p.R538_splice	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	537						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATGCCAGACCTTTTACGAGAG	0.403000													11	30					0	0	0.008291	0	0
CES5A	221223	broad.mit.edu	37	16	55903594	55903594	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:55903594G>T	ENST00000521992.1	-	5	712	c.567C>A	c.(565-567)tcC>tcA	p.S189S	CES5A_ENST00000518005.1_Silent_p.S54S|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Silent_p.S160S|CES5A_ENST00000319165.9_Silent_p.S160S|CES5A_ENST00000520435.1_Silent_p.S130S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	160						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCAGGGCGGACCCATCAA	0.562000													6	12					5.9392e-07	7.15214e-07	0.001168	1	0
EYA2	2139	broad.mit.edu	37	20	45644860	45644860	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:45644860G>C	ENST00000327619.5	+	5	713	c.339G>C	c.(337-339)caG>caC	p.Q113H	EYA2_ENST00000317304.6_Missense_Mutation_p.Q113H|EYA2_ENST00000357410.3_Missense_Mutation_p.Q113H	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	113					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCCCTGGCCAGAGTGGATTCC	0.537000													40	94					0	0	0.009718	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713296	142713296	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:142713296G>A	ENST00000369381.2	-	0	1309																											AGGTCGTTTGGAGAGTTTCTA	0.343000													10	18					0	0	0.008291	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534654	37534654	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:37534654C>T	ENST00000299824.1	+	7	928	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGCAGCTGAGCTCCTCCTGGA	0.592000													19	63					0	0	0.008871	0	0
CUX1	1523	broad.mit.edu	37	7	101925179	101925179	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:101925179C>T	ENST00000437600.4	+	21	2215	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	CUX1_ENST00000547394.2_Silent_p.F607F|CUX1_ENST00000425244.2_Silent_p.F577F|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Silent_p.F584F|CUX1_ENST00000292538.4_Silent_p.F623F	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCGGCTTCTTCTACACACTGT	0.652000													7	38					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141283475	141283475	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:141283475G>C	ENST00000389484.3	-	49	8935	c.7964C>G	c.(7963-7965)cCa>cGa	p.P2655R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2655	LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCCAGGTTGGCAGAACACA	0.408000										TSP Lung(27;0.18)			7	35					0	0	0.001984	0	0
MEFV	4210	broad.mit.edu	37	16	3304331	3304331	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:3304331G>T	ENST00000219596.1	-	2	776	c.737C>A	c.(736-738)aCc>aAc	p.T246N	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	246					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGTAGAAATGGTGACCTCAAG	0.607000													49	143					6.08268e-21	9.07994e-21	0.003610	1	0
ACAD9	28976	broad.mit.edu	37	3	128598589	128598589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:128598589G>A	ENST00000308982.7	+	1	136	c.55G>A	c.(55-57)Ggt>Agt	p.G19S		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	19						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCCTGCCGGGGTCTGGTGGT	0.632000													30	58					0	0	0.010818	0	0
MYBPH	4608	broad.mit.edu	37	1	203139527	203139527	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:203139527C>A	ENST00000255416.4	-	7	1042	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	329	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ATGATGAGGTCAGAGATGGTG	0.597000													14	35					1.5842e-08	2.01448e-08	0.001855	1	0
CPSF1	29894	broad.mit.edu	37	8	145625613	145625613	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:145625613G>A	ENST00000349769.3	-	9	978	c.884C>T	c.(883-885)cCg>cTg	p.P295L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	295					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACGCCATACGGGGGGACGCT	0.672000													3	27					0	0	0.009096	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	23					0	0	0.004672	0	0
OR6K2	81448	broad.mit.edu	37	1	158669631	158669631	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:158669631C>A	ENST00000359610.2	-	1	855	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGCTATATCCCAGAACAAAGA	0.423000													9	22					0.00621372	0.00655751	0.006214	1	0
ROBO3	64221	broad.mit.edu	37	11	124743700	124743700	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:124743700T>A	ENST00000397801.1	+	11	1918	c.1726T>A	c.(1726-1728)Tgg>Agg	p.W576R	ROBO3_ENST00000538940.1_Missense_Mutation_p.W554R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	576	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TACCCTGACCTGGAAGCCCAA	0.537000													4	24					0	0	0.009096	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141310572	141310572	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:141310572T>A	ENST00000389328.4	-	11	2072	c.2058A>T	c.(2056-2058)aaA>aaT	p.K686N	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.K579N|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.K588N	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	588					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCCTACCTATTTTCTTGTTCC	0.448000													26	52					0	0	0.003954	0	0
DAGLA	747	broad.mit.edu	37	11	61502413	61502413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:61502413G>T	ENST00000257215.5	+	10	1183	c.1067G>T	c.(1066-1068)cGc>cTc	p.R356L		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	356					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCATCCGGCGCCACTTCCTG	0.627000													68	156					2.69673e-31	4.13339e-31	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77775895	77775895	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:77775895G>C	ENST00000521891.2	+	11	10393	c.9945G>C	c.(9943-9945)ctG>ctC	p.L3315L	ZFHX4_ENST00000050961.6_Silent_p.L3266L|ZFHX4_ENST00000518282.1_Silent_p.L3289L|ZFHX4_ENST00000455469.2_Silent_p.L3270L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGGTGCACTGTTgcagcagt	0.542000										HNSCC(33;0.089)			8	16					0	0	0.003080	0	0
PLA1A	51365	broad.mit.edu	37	3	119327669	119327669	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:119327669C>A	ENST00000488919.1	+	0	165				PLA1A_ENST00000273371.4_Missense_Mutation_p.R110S|PLA1A_ENST00000495992.1_Missense_Mutation_p.R110S|PLA1A_ENST00000494440.1_Missense_Mutation_p.R94S	NM_001206961.1	NP_001193890.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A						lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACCCTTCTGCGTGCAACGAA	0.433000													27	107					1.2476e-16	1.80481e-16	0.006320	1	0
LRP1B	53353	broad.mit.edu	37	2	141571371	141571371	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:141571371T>A	ENST00000389484.3	-	32	6185	c.5214A>T	c.(5212-5214)ctA>ctT	p.L1738L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1738					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTATCGATAGACCTGTAA	0.343000										TSP Lung(27;0.18)			12	34					0	0	0.001855	0	0
MS4A3	932	broad.mit.edu	37	11	59831757	59831757	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:59831757C>T	ENST00000278865.3	+	4	390	c.317C>T	c.(316-318)tCt>tTt	p.S106F	MS4A3_ENST00000395032.2_5'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.S60F|MS4A3_ENST00000358152.2_Missense_Mutation_p.S60F	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	106						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GGAACCTTGTCTGTTGTAGCA	0.363000													4	45					0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103496791	103496791	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:103496791G>C	ENST00000358392.2	-	5	978	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	COL11A1_ENST00000370096.3_Missense_Mutation_p.Q221E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q221E|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q221E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	221	TSP N-terminal.				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.Q221K(2)		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)		AAAAACTGCTGAATGTCCCCC	0.403000													6	12					0	0	0.001984	0	0
RAD51B	5890	broad.mit.edu	37	14	68878244	68878244	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:68878244G>A	ENST00000487270.1	+	9	1005	c.957_splice	c.e9+1	p.Q319_splice	RAD51B_ENST00000390683.3_Splice_Site_p.Q319_splice|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Splice_Site_p.Q319_splice|RAD51B_ENST00000471583.1_Splice_Site_p.Q319_splice|RAD51B_ENST00000488612.1_Splice_Site_p.Q319_splice	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	319					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGACAGGTGGGTGCTT	0.493000								Direct reversal of damage					6	31					0	0	0.001984	0	0
NBR1	4077	broad.mit.edu	37	17	41341637	41341637	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:41341637G>C	ENST00000422280.1	+	8	972	c.513G>C	c.(511-513)gaG>gaC	p.E171D	NBR1_ENST00000589872.1_Missense_Mutation_p.E171D|NBR1_ENST00000542611.1_Missense_Mutation_p.E150D|NBR1_ENST00000389312.4_Missense_Mutation_p.E171D|NBR1_ENST00000341165.6_Missense_Mutation_p.E171D|NBR1_ENST00000590996.1_Missense_Mutation_p.E171D	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	171					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AAACGGTTGAGAAGCTTGAAC	0.393000													24	46					0	0	0.002780	0	0
CORO2A	7464	broad.mit.edu	37	9	100893318	100893318	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:100893318C>G	ENST00000343933.5	-	7	1046	c.789G>C	c.(787-789)atG>atC	p.M263I	CORO2A_ENST00000375077.4_Missense_Mutation_p.M263I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	263					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTCCTCCTCCATCAGAGGCA	0.632000													9	5					0	0	0.004482	0	0
SORBS1	10580	broad.mit.edu	37	10	97099020	97099020	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:97099020G>T	ENST00000371247.2	-	29	2924	c.2735C>A	c.(2734-2736)aCa>aAa	p.T912K	SORBS1_ENST00000371249.2_Missense_Mutation_p.T694K|SORBS1_ENST00000371246.2_Missense_Mutation_p.T934K|SORBS1_ENST00000354106.3_Missense_Mutation_p.T882K|SORBS1_ENST00000371227.4_Missense_Mutation_p.T866K|SORBS1_ENST00000306402.6_Missense_Mutation_p.T659K|SORBS1_ENST00000371239.1_Missense_Mutation_p.T689K|SORBS1_ENST00000371245.3_Missense_Mutation_p.T763K|SORBS1_ENST00000353505.5_Missense_Mutation_p.T763K|SORBS1_ENST00000607232.1_Missense_Mutation_p.T1172K|SORBS1_ENST00000277982.5_Missense_Mutation_p.T934K|SORBS1_ENST00000361941.3_Missense_Mutation_p.T912K|SORBS1_ENST00000371241.1_Missense_Mutation_p.T562K|SORBS1_ENST00000347291.4_Missense_Mutation_p.T724K|SORBS1_ENST00000393949.1_Missense_Mutation_p.T882K			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	912	SH3 2.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTGTCGGGATGTCCCCGGGAT	0.552000													26	79					1.66031e-10	2.23253e-10	0.003954	1	0
LOC101929950	101929950	broad.mit.edu	37	17	36358981	36358981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:36358981C>A	ENST00000312412.4	-	6	709	c.710G>T	c.(709-711)cGc>cTc	p.R237L	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.R82L																kidney(1)|lung(3)	4						AACAGGTGTGCGGGCAAACTT	0.353000													40	157					8.16277e-20	1.21498e-19	0.006999	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960758	73960758	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:73960758G>C	ENST00000373468.1	-	3	4285	c.3634C>G	c.(3634-3636)Cct>Gct	p.P1212A	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1212A			Q5QGS0	K2022_HUMAN	KIAA2022	1212					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTTTGCCAGGTGGTTTTTCA	0.473000													19	14					0	0	0.006122	0	0
LRIT2	340745	broad.mit.edu	37	10	85984376	85984376	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:85984376C>A	ENST00000372113.4	-	2	610	c.605G>T	c.(604-606)tGg>tTg	p.W202L	LRIT2_ENST00000538192.1_Missense_Mutation_p.W202L	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	202	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTCACATACCCAGGGGTTGTC	0.567000													17	44					1.15088e-07	1.40119e-07	0.004007	1	0
ADAT3	113179	broad.mit.edu	37	19	1913115	1913115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:1913115G>T	ENST00000329478.2	+	2	1289	c.1069G>T	c.(1069-1071)Gag>Tag	p.E357*	SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000602400.1_Nonsense_Mutation_p.E341*|SCAMP4_ENST00000414057.2_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	341					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGTGCTGGAGGAGCAGTG	0.751000													3	6					6.4e-05	7.22966e-05	0.004672	1	0
KRT79	338785	broad.mit.edu	37	12	53225407	53225407	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:53225407G>A	ENST00000330553.5	-	2	515	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	161	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCAGGAACCGCACCTGAGCC	0.617000													12	36					0	0	0.001855	0	0
UBC	7316	broad.mit.edu	37	12	125397905	125397905	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:125397905T>C	ENST00000536769.1	-	1	1989	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	UBC_ENST00000538617.1_Missense_Mutation_p.Q138R|UBC_ENST00000546120.1_Intron|UBC_ENST00000339647.5_Missense_Mutation_p.Q138R			P0CG48	UBC_HUMAN	ubiquitin C	138	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGACTCTTTCTGGATGTTGTA	0.557000													39	109					0	0	0.003610	0	0
LOC399815	399815	broad.mit.edu	37	10	124648214	124648214	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:124648214C>A	ENST00000425266.1	+	0	266																											CACCACCAAGCCTGATGAAGG	0.413000													8	1					5.4927e-09	7.05422e-09	0.004482	1	0
ITGB8	3696	broad.mit.edu	37	7	20445751	20445751	+	Silent	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:20445751A>G	ENST00000222573.3	+	12	2664	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S	ITGB8_ENST00000537992.1_Silent_p.S525S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	660					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAAAACCTCATGTGCTCTCA	0.413000													12	27					0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94038350	94038350	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:94038350G>C	ENST00000553484.1	+	15	2020	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	UNC79_ENST00000555664.1_Missense_Mutation_p.E622D|UNC79_ENST00000256339.4_Missense_Mutation_p.E445D|UNC79_ENST00000393151.2_Missense_Mutation_p.E622D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	622						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGTCTGGGAGTGTATTATGC	0.438000													11	27					0	0	0.001855	0	0
BRSK2	9024	broad.mit.edu	37	11	1467069	1467069	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:1467069C>T	ENST00000308219.9	+	12	1544	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	BRSK2_ENST00000382179.1_Silent_p.L432L|BRSK2_ENST00000308230.5_Silent_p.L386L|BRSK2_ENST00000544817.1_Silent_p.L81L|BRSK2_ENST00000526678.1_Silent_p.L386L|BRSK2_ENST00000531197.1_Silent_p.L386L|BRSK2_ENST00000528710.1_Silent_p.L326L|BRSK2_ENST00000528841.1_Silent_p.L386L	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	386					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TGGAGGTGCTCAGCGTGACGG	0.687000													17	36					0	0	0.004990	0	0
ZNF671	79891	broad.mit.edu	37	19	58231901	58231901	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:58231901C>T	ENST00000317398.6	-	4	1648	c.1553G>A	c.(1552-1554)cGg>cAg	p.R518Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.R420Q	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTCTGTTTCCGGATGAATTC	0.498000													113	137					0	0	0.003610	0	0
UNC5A	90249	broad.mit.edu	37	5	176305048	176305048	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:176305048C>G	ENST00000329542.4	+	11	2063	c.1789C>G	c.(1789-1791)Ctg>Gtg	p.L597V	UNC5A_ENST00000261961.3_Missense_Mutation_p.L557V	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	597					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAGCTGCTTCTGTTTGCGCC	0.652000													18	30					0	0	0.010504	0	0
LNX1	84708	broad.mit.edu	37	4	54347901	54347901	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:54347901T>G	ENST00000306888.2	-	6	1434	c.1183A>C	c.(1183-1185)Agc>Cgc	p.S395R	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.S491R	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	491	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAGTGTTGCTCCTCTCCCCT	0.597000													11	25					0	0	0.010729	0	0
MUC2	4583	broad.mit.edu	37	11	1093566	1093566	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:1093566C>A	ENST00000359061.5	+	32	5253	c.5253C>A	c.(5251-5253)acC>acA	p.1751_1751insT	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000441003.2_Silent_p.T1795T|MUC2_ENST00000333592.6_Silent_p.T83T			Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccatcaccaccacaactacGG	0.587000													10	12					0.000442599	0.000482921	0.006214	1	0
A2ML1	144568	broad.mit.edu	37	12	9021196	9021196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:9021196C>A	ENST00000299698.7	+	32	4305	c.4125C>A	c.(4123-4125)ttC>ttA	p.F1375L	A2ML1_ENST00000539547.1_Missense_Mutation_p.F884L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1219						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TATCTGGGTTCAGTCCCATGG	0.413000													23	67					1.96895e-08	2.47319e-08	0.002780	1	0
WDR70	55100	broad.mit.edu	37	5	37392113	37392113	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:37392113A>G	ENST00000265107.4	+	4	343	c.187A>G	c.(187-189)Aaa>Gaa	p.K63E	WDR70_ENST00000504564.1_Missense_Mutation_p.K63E	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	63										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAAGAGAAAAAGAGGAAGA	0.303000													11	68					0	0	0.010729	0	0
HCG17	414778	broad.mit.edu	37	6	30230082	30230082	+	RNA	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:30230082T>C	ENST00000453558.1	-	0	126				HLA-L_ENST00000463348.1_RNA																							GCAGCAATTGTGCTCAGTACT	0.512000													38	97					0	0	0.011902	0	0
ADAM18	8749	broad.mit.edu	37	8	39502856	39502856	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:39502856G>T	ENST00000265707.5	+	11	954		c.e11-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTATTTTAGTATCCAGATG	0.279000													37	27					3.33393e-15	4.72996e-15	0.004878	1	0
ALX1	8092	broad.mit.edu	37	12	85674209	85674209	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:85674209C>A	ENST00000316824.3	+	1	325	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	57					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GGACCCCTGCCCCGCGCCGAG	0.657000													13	45					0.000219431	0.000244076	0.002450	1	0
LPPR4	9890	broad.mit.edu	37	1	99771292	99771292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:99771292C>A	ENST00000370185.3	+	7	1515	c.1018C>A	c.(1018-1020)Cac>Aac	p.H340N	LPPR4_ENST00000457765.1_Missense_Mutation_p.H282N|LPPR4_ENST00000370184.1_Missense_Mutation_p.H182N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		340							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATGTTTCAGCACAGAGACGC	0.448000													28	79					1.80694e-10	2.42337e-10	0.009535	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268915	30268915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:30268915G>T	ENST00000378981.3	+	4	626	c.305G>T	c.(304-306)aGc>aTc	p.S102I	MAGEB1_ENST00000397548.2_Missense_Mutation_p.S102I|MAGEB1_ENST00000397550.1_Missense_Mutation_p.S102I	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	102										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCCACTGAGAGCTCAGTCAAA	0.483000													8	4					1.06961e-07	1.31468e-07	0.003080	1	0
CACNA1E	777	broad.mit.edu	37	1	181452944	181452944	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:181452944A>T	ENST00000526775.1	+	1	229	c.64A>T	c.(64-66)Agc>Tgc	p.S22C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S22C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S22C|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S22C|CACNA1E_ENST00000358338.5_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	22					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCGGACCAGAGCAGGAACCG	0.637000													21	53					0	0	0.008871	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391923	3391923	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:3391923C>T	ENST00000324266.5	+	2	724	c.529C>T	c.(529-531)Ccg>Tcg	p.P177S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.P177S	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	177							binding										CGGCTTCGAGCCGCAGATGGT	0.731000													4	13					0	0	0.000602	0	0
WDR36	134430	broad.mit.edu	37	5	110430633	110430633	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:110430633C>G	ENST00000506538.2	+	2	919	c.346C>G	c.(346-348)Ctg>Gtg	p.L116V	WDR36_ENST00000505303.1_Missense_Mutation_p.L60V|WDR36_ENST00000513710.2_Missense_Mutation_p.L116V	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	116					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GAAACTTAGTCTGGTTGCAGT	0.274000													5	8					0	0	0.001168	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147249	26147249	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:26147249C>G	ENST00000331351.5	+	2	1443	c.1051C>G	c.(1051-1053)Cag>Gag	p.Q351E	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	351					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCCCCTCTCCCAGATCCTCTT	0.532000													26	106					0	0	0.003954	0	0
OR6N1	128372	broad.mit.edu	37	1	158736070	158736070	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:158736070G>T	ENST00000335094.2	-	1	422	c.403C>A	c.(403-405)Ctc>Atc	p.L135I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGGGTCATGAGGGTTGGGTAG	0.517000													9	27					0.00829132	0.0086966	0.008291	1	0
CFHR2	3080	broad.mit.edu	37	1	196928125	196928125	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:196928125C>A	ENST00000367415.4	+	5	842	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.S243Y	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	243	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GTTTGTAAATCTGGATATCAT	0.313000													12	36					5.50884e-06	6.38975e-06	0.001368	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958025	57958025	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:57958025C>G	ENST00000311591.3	+	1	120	c.63C>G	c.(61-63)ctC>ctG	p.L21L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTGAACATCTCCAGTGGAGGG	0.488000													9	46					0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92495040	92495040	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:92495040G>T	ENST00000298047.6	+	4	3705	c.3688G>T	c.(3688-3690)Ggt>Tgt	p.G1230C	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.G1080C|FAT3_ENST00000409404.2_Missense_Mutation_p.G1230C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1230	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACAGATGGTGGTCCCTCTCC	0.418000										TCGA Ovarian(4;0.039)			43	115					3.54909e-21	5.31332e-21	0.011902	1	0
CSMD3	114788	broad.mit.edu	37	8	113562942	113562942	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:113562942C>A	ENST00000297405.5	-	27	4766	c.4522G>T	c.(4522-4524)Gat>Tat	p.D1508Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1508Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1468Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1404Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1508	CUB 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAAAATCCGTGTCAAAC	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	27					0.00116845	0.00126153	0.001168	1	0
FOXA2	3170	broad.mit.edu	37	20	22563390	22563390	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:22563390C>A	ENST00000419308.2	-	2	674	c.472G>T	c.(472-474)Gca>Tca	p.A158S	FOXA2_ENST00000319993.4_Missense_Mutation_p.A164S|FOXA2_ENST00000377115.4_Missense_Mutation_p.A158S	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	158					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCTTTGCGTGCGTGTAG	0.627000													34	81					8.4185e-14	1.18134e-13	0.012213	1	0
RYR3	6263	broad.mit.edu	37	15	34030787	34030787	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:34030787A>G	ENST00000389232.4	+	50	7722	c.7652A>G	c.(7651-7653)cAt>cGt	p.H2551R	RYR3_ENST00000415757.3_Missense_Mutation_p.H2551R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2551	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGCTCTCCCATAAGGTAATG	0.478000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	49					0	0	0.002450	0	0
CFHR4	10877	broad.mit.edu	37	1	196879571	196879571	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:196879571C>A	ENST00000367416.2	+	6	1094	c.957C>A	c.(955-957)tgC>tgA	p.C319*	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Nonsense_Mutation_p.C73*|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACATTCACTGCACACAAGATG	0.418000													16	10					6.31663e-08	7.80111e-08	0.003163	1	0
KDM4E	390245	broad.mit.edu	37	11	94759337	94759337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:94759337C>A	ENST00000450979.2	+	1	916	c.616C>A	c.(616-618)Ccc>Acc	p.P206T		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	206	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						CTTTGGGGAGCCCAAAACTTG	0.562000													16	66					5.01169e-05	5.68507e-05	0.004990	1	0
MC4R	4160	broad.mit.edu	37	18	58038732	58038732	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:58038732A>T	ENST00000299766.3	-	1	1269	c.851T>A	c.(850-852)tTt>tAt	p.F284Y		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	284					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ATACAAGTTAAAGTGAGACAT	0.408000													10	32					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179642677	179642677	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:179642677T>C	ENST00000589042.1	-	25	4458	c.4234A>G	c.(4234-4236)Agg>Ggg	p.R1412G	TTN_ENST00000342175.6_Missense_Mutation_p.R1366G|TTN_ENST00000360870.5_Missense_Mutation_p.R1412G|TTN_ENST00000359218.5_Missense_Mutation_p.R1366G|TTN_ENST00000460472.2_Missense_Mutation_p.R1366G|TTN_ENST00000342992.6_Missense_Mutation_p.R1412G|TTN_ENST00000591111.1_Missense_Mutation_p.R1412G|RP11-88L24.4_ENST00000582038.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1412	ZIS5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGGAGACCTGCTCACTGAA	0.478000													8	29					0	0	0.003080	0	0
NCAPG2	54892	broad.mit.edu	37	7	158483362	158483362	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:158483362C>T	ENST00000409339.3	-	5	548	c.435G>A	c.(433-435)caG>caA	p.Q145Q	NCAPG2_ENST00000356309.3_Silent_p.Q145Q|NCAPG2_ENST00000409423.1_Silent_p.Q145Q|NCAPG2_ENST00000449727.2_Silent_p.Q145Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	145					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CACACAAATCCTGAATAGAAC	0.398000													10	46					0	0	0.006214	0	0
NCOA4	8031	broad.mit.edu	37	10	51584703	51584703	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:51584703A>C	ENST00000452682.1	+	9	1102	c.850A>C	c.(850-852)Agt>Cgt	p.S284R	NCOA4_ENST00000438493.1_Missense_Mutation_p.S284R|NCOA4_ENST00000374082.1_Missense_Mutation_p.S268R|NCOA4_ENST00000443446.1_Missense_Mutation_p.S268R|NCOA4_ENST00000414907.2_Missense_Mutation_p.S102R|NCOA4_ENST00000430396.2_Missense_Mutation_p.S168R|NCOA4_ENST00000344348.6_Missense_Mutation_p.S268R|NCOA4_ENST00000374087.4_Missense_Mutation_p.S268R|NCOA4_ENST00000498586.1_3'UTR	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	268					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGAAAAATCAAGTTATCAAAA	0.403000			T	RET	papillary thyroid								19	58					0	0	0.010504	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055542	72055542	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:72055542C>T	ENST00000555818.1	+	2	1301	c.953C>T	c.(952-954)tCa>tTa	p.S318L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S318L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S318L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	318					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATAACCGATCAGAAGACTCT	0.413000													15	47					0	0	0.002450	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408726	197408726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:197408726C>A	ENST00000273582.5	-	16	2581	c.2036G>T	c.(2035-2037)tGt>tTt	p.C679F	KIAA0226_ENST00000389665.5_Missense_Mutation_p.C749F|KIAA0226_ENST00000296343.5_Missense_Mutation_p.C724F	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	724					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCGGATGCCACATCCTGCACA	0.597000													8	41					0.000442599	0.000482921	0.006214	1	0
HCN4	10021	broad.mit.edu	37	15	73615942	73615942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:73615942G>T	ENST00000261917.3	-	8	3485	c.2492C>A	c.(2491-2493)tCc>tAc	p.S831Y		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	831					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGGGATCAGGGACTGCAGCCG	0.677000													17	45					3.41278e-10	4.50662e-10	0.004990	1	0
TMEM30B	161291	broad.mit.edu	37	14	61747148	61747148	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:61747148G>A	ENST00000555868.1	-	1	1410	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	TMEM30B_ENST00000355702.2_Missense_Mutation_p.P240S|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	240						integral to membrane				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GTGTTGTTGGGGTCGGGGCTG	0.692000													17	41					0	0	0.004007	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960982	73960982	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:73960982T>A	ENST00000373468.1	-	3	4061	c.3410A>T	c.(3409-3411)cAg>cTg	p.Q1137L	KIAA2022_ENST00000055682.5_Missense_Mutation_p.Q1137L			Q5QGS0	K2022_HUMAN	KIAA2022	1137					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATATGGAACTGAAACTGGTG	0.418000													25	21					0	0	0.003330	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304976	67304976	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:67304976C>T	ENST00000299798.11	+	16	2619	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	852					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGCCGCTCTCGCAGTGAGAG	0.662000													12	58					0	0	0.010729	0	0
OR13C5	138799	broad.mit.edu	37	9	107361360	107361360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:107361360C>A	ENST00000374779.2	-	1	428	c.335G>T	c.(334-336)tGt>tTt	p.C112F		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGAAGCACACACTCTGTTGT	0.517000													11	59					1.67942e-08	2.12506e-08	0.006122	1	0
HSPA2	3306	broad.mit.edu	37	14	65007679	65007679	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:65007679A>T	ENST00000247207.6	+	1	494	c.112A>T	c.(112-114)Acc>Tcc	p.T38S	HSPA2_ENST00000554883.1_Intron|HSPA2_ENST00000394709.1_Missense_Mutation_p.T38S	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	38					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GGGCAATCGCACCACCCCCAG	0.637000													16	52					0	0	0.003163	0	0
SENP2	59343	broad.mit.edu	37	3	185347616	185347616	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:185347616A>T	ENST00000296257.5	+	17	1994	c.1754A>T	c.(1753-1755)cAt>cTt	p.H585L	SENP2_ENST00000545472.1_Missense_Mutation_p.H575L|SENP2_ENST00000427465.2_Missense_Mutation_p.H409L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	585					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAAATCCTTCATCAGCAGTTG	0.468000													25	41					0	0	0.006320	0	0
OR13C2	392376	broad.mit.edu	37	9	107367574	107367574	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:107367574C>A	ENST00000542196.1	-	1	377	c.335G>T	c.(334-336)tGt>tTt	p.C112F		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CAGAAGCACACACTCTGTTGT	0.517000													12	57					1.15088e-07	1.40119e-07	0.004007	1	0
ULK1	8408	broad.mit.edu	37	12	132401562	132401562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:132401562G>T	ENST00000321867.4	+	21	2488	c.2137G>T	c.(2137-2139)Gac>Tac	p.D713Y		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	713					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.D713Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACAAGCCCCGGACCCGGGCAG	0.677000													21	43					1.9806e-07	2.40002e-07	0.002299	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113601626	113601626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:113601626G>T	ENST00000358160.4	+	6	979	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	163						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGGTGCCAGGGATAGAAGTTA	0.343000													15	60					1.05317e-09	1.37661e-09	0.002450	1	0
FAM47B	170062	broad.mit.edu	37	X	34960964	34960964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:34960964C>A	ENST00000329357.5	+	1	52	c.16C>A	c.(16-18)Cca>Aca	p.P6T		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	6								p.P6L(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACCGGAGGCCACAGGACCG	0.627000													10	4					2.74318e-10	3.64108e-10	0.006214	1	0
SLC16A10	117247	broad.mit.edu	37	6	111498613	111498613	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:111498613C>T	ENST00000368851.5	+	3	862	c.687C>T	c.(685-687)ggC>ggT	p.G229G	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	229					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		ACAGCGTGGGCCTCTTTTACA	0.483000													26	57					0	0	0.004656	0	0
NEB	4703	broad.mit.edu	37	2	152470789	152470789	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:152470789C>A	ENST00000397345.3	-	77	11804		c.e77+1		NEB_ENST00000603639.1_Splice_Site|NEB_ENST00000409198.1_Splice_Site|NEB_ENST00000172853.10_Splice_Site|NEB_ENST00000427231.2_Splice_Site|NEB_ENST00000604864.1_Splice_Site	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCCACTCACATCACTCTGC	0.463000													20	56					0.000958276	0.00104116	0.007413	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148989191	148989191	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:148989191C>T	ENST00000333677.6	+	4	554	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	131	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCCTTGCTACTGGTGGACAC	0.552000													24	37					0	0	0.002299	0	0
PRKD1	5587	broad.mit.edu	37	14	30100164	30100164	+	Missense_Mutation	SNP	C	C	A	rs142868862		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:30100164C>A	ENST00000331968.5	-	10	1685	c.1456G>T	c.(1456-1458)Ggg>Tgg	p.G486W	PRKD1_ENST00000415220.2_Missense_Mutation_p.G494W	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	486	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATTGGCCCCATTAGGAATT	0.358000													17	50					1.99824e-07	2.41571e-07	0.004990	1	0
RIMBP2	23504	broad.mit.edu	37	12	130921588	130921588	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:130921588G>A	ENST00000261655.4	-	10	2017	c.1854C>T	c.(1852-1854)caC>caT	p.H618H	RIMBP2_ENST00000535703.1_Silent_p.H526H|RIMBP2_ENST00000536002.1_Silent_p.H526H	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	618	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCATCCTGGCGTGGGGACCCA	0.662000													14	18					0	0	0.001855	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189058	26189058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:26189058T>C	ENST00000340756.2	-	1	246	c.247A>G	c.(247-249)Aca>Gca	p.T83A		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	83					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TCCATGGCTGTGACTGTCTTG	0.532000													23	87					0	0	0.003954	0	0
ANO6	196527	broad.mit.edu	37	12	45803164	45803164	+	Silent	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:45803164A>G	ENST00000320560.8	+	16	2107	c.1905A>G	c.(1903-1905)cgA>cgG	p.R635R	ANO6_ENST00000425752.2_Silent_p.R635R|ANO6_ENST00000441606.2_Silent_p.R617R|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.R656R|ANO6_ENST00000435642.1_Silent_p.R635R	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	635					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAATTGGGCGATTTCACAGAG	0.378000													20	39					0	0	0.012319	0	0
ZNF676	163223	broad.mit.edu	37	19	22363214	22363214	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:22363214G>A	ENST00000397121.2	-	3	1622	c.1305C>T	c.(1303-1305)agC>agT	p.S435S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTCAGTAAGGCTTGAGGACC	0.438000													34	34					0	0	0.003271	0	0
CCP110	9738	broad.mit.edu	37	16	19548127	19548127	+	Missense_Mutation	SNP	G	G	T	rs146335974		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:19548127G>T	ENST00000396212.2	+	5	1572	c.1136G>T	c.(1135-1137)cGt>cTt	p.R379L	CCP110_ENST00000381396.5_Missense_Mutation_p.R379L|CCP110_ENST00000396208.2_Missense_Mutation_p.R379L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	379	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CACCGAAGACGTTCCAGGACA	0.363000													6	13					2.7689e-08	3.46112e-08	0.001984	1	0
PARP2	10038	broad.mit.edu	37	14	20811820	20811820	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:20811820G>A	ENST00000527915.1	+	1	25	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	PARP2_ENST00000250416.5_Missense_Mutation_p.R7Q|RPPH1_ENST00000554988.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.R7Q			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	7					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CGGCGGCGACGGAGCACCGGC	0.672000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					27	41					0	0	0.008361	0	0
GH1	2688	broad.mit.edu	37	17	61995762	61995762	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:61995762C>G	ENST00000323322.5	-	2	157	c.115G>C	c.(115-117)Gct>Cct	p.A39P	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Missense_Mutation_p.A39P|GH1_ENST00000458650.2_Missense_Mutation_p.A39P|GH1_ENST00000351388.4_Missense_Mutation_p.A39P	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	39					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.A39T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						CGGAGCATAGCGTTGTCAAAA	0.597000													106	91					0	0	0.003610	0	0
CLIP4	79745	broad.mit.edu	37	2	29404730	29404730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:29404730G>T	ENST00000320081.5	+	16	2344	c.2089G>T	c.(2089-2091)Ggg>Tgg	p.G697W	CLIP4_ENST00000401617.2_Intron|CLIP4_ENST00000404424.1_Missense_Mutation_p.G697W	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	697										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					GGGAATTAATGGGTCAAAACT	0.373000													32	48					1.99505e-19	2.94399e-19	0.012213	1	0
NLRP14	338323	broad.mit.edu	37	11	7091676	7091676	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:7091676A>T	ENST00000299481.4	+	11	3481	c.3135A>T	c.(3133-3135)ctA>ctT	p.L1045L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	1045					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTGTAAACTACAAGTTCTAG	0.398000													9	19					0	0	0.008291	0	0
ABCC12	94160	broad.mit.edu	37	16	48142410	48142410	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:48142410G>T	ENST00000311303.3	-	17	2657	c.2312C>A	c.(2311-2313)tCc>tAc	p.S771Y	ABCC12_ENST00000448542.1_Missense_Mutation_p.S768Y|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	771						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCCTGGGGGGATTCAGTCTG	0.507000													18	47					5.3912e-06	6.26743e-06	0.006122	1	0
NPY1R	4886	broad.mit.edu	37	4	164246538	164246538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:164246538C>A	ENST00000296533.2	-	3	1603	c.1072G>T	c.(1072-1074)Gat>Tat	p.D358Y	NPY1R_ENST00000509586.1_Missense_Mutation_p.D115Y	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	358					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTGGAAACATCTGTGTGCATC	0.368000													30	49					5.45727e-16	7.80693e-16	0.008361	1	0
HTR3A	3359	broad.mit.edu	37	11	113857651	113857651	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:113857651G>T	ENST00000504030.2	+	8	1466	c.1021G>T	c.(1021-1023)Gct>Tct	p.A341S	HTR3A_ENST00000535865.1_Missense_Mutation_p.A85S|HTR3A_ENST00000299961.5_Missense_Mutation_p.A326S|HTR3A_ENST00000506841.2_Missense_Mutation_p.A373S|HTR3A_ENST00000375498.2_Missense_Mutation_p.A347S|HTR3A_ENST00000355556.2_Missense_Mutation_p.A379S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	341					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GCCCGTGCCTGCTTGGCTGCG	0.587000													13	40					7.03913e-09	8.99541e-09	0.001368	1	0
LRP1B	53353	broad.mit.edu	37	2	141283476	141283476	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:141283476G>T	ENST00000389484.3	-	49	8934	c.7963C>A	c.(7963-7965)Cca>Aca	p.P2655T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2655	LDL-receptor class A 14.			LP -> CQ (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCAGGTTGGCAGAACACAC	0.403000										TSP Lung(27;0.18)			7	35					8.12818e-05	9.15977e-05	0.001984	1	0
PCDH8	5100	broad.mit.edu	37	13	53421705	53421705	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr13:53421705G>T	ENST00000377942.3	-	1	1070	c.867C>A	c.(865-867)acC>acA	p.T289T	PCDH8_ENST00000338862.4_Silent_p.T289T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	289	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCTCCGGCGGGGTGCGGGCGC	0.716000													4	4					0.00024832	0.000274431	0.009096	1	0
PLEC	5339	broad.mit.edu	37	8	145006189	145006189	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:145006189C>A	ENST00000322810.4	-	18	2674	c.2505G>T	c.(2503-2505)gcG>gcT	p.A835A	PLEC_ENST00000354958.2_Silent_p.A676A|PLEC_ENST00000527096.1_Silent_p.A721A|PLEC_ENST00000436759.2_Silent_p.A725A|PLEC_ENST00000356346.3_Silent_p.A684A|PLEC_ENST00000345136.3_Silent_p.A698A|PLEC_ENST00000398774.2_Silent_p.A666A|PLEC_ENST00000357649.2_Silent_p.A702A|PLEC_ENST00000354589.3_Silent_p.A698A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	835	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTGCAGGGCCGCCTGGAAGG	0.711000													15	18					3.27435e-08	4.07317e-08	0.002450	1	0
CACNA1F	778	broad.mit.edu	37	X	49067064	49067064	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:49067064G>T	ENST00000376265.2	-	38	4565	c.4504C>A	c.(4504-4506)Cga>Aga	p.R1502R	CACNA1F_ENST00000376251.1_Silent_p.R1437R|CACNA1F_ENST00000323022.5_Silent_p.R1491R	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1502					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CAGGCCACTCGGTGTGGGCAC	0.617000													5	11					2.0095e-06	2.35738e-06	0.001984	1	0
OR2A14	135941	broad.mit.edu	37	7	143826647	143826647	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:143826647T>C	ENST00000408899.2	+	1	497	c.442T>C	c.(442-444)Tgg>Cgg	p.W148R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTGGCTTCCTGGGTGTTCAG	0.537000													57	203					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70841741	70841741	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:70841741G>T	ENST00000393567.2	-	86	15258	c.15108C>A	c.(15106-15108)taC>taA	p.Y5036*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5036										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGATTATGCTGTACCCGGCTC	0.532000													13	64					3.27435e-08	4.07317e-08	0.002450	1	0
MEP1A	4224	broad.mit.edu	37	6	46802344	46802344	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:46802344C>A	ENST00000230588.4	+	12	1648	c.1639C>A	c.(1639-1641)Ccg>Acg	p.P547T		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	547	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTGGGACAGGCCGTCCAGGGT	0.433000													13	42					6.81908e-15	9.62144e-15	0.002450	1	0
OR14K1	343170	broad.mit.edu	37	1	247902064	247902064	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:247902064G>T	ENST00000283225.2	+	1	148	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CATGATTCTGGACCATCGTCT	0.473000													16	71					0.000422831	0.000464303	0.004007	1	0
FOXF2	2295	broad.mit.edu	37	6	1391291	1391291	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:1391291G>C	ENST00000259806.1	+	1	1223	c.1109G>C	c.(1108-1110)aGc>aCc	p.S370T		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	370					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGCACTCCAGCATGTCCTCC	0.692000													3	10					0	0	0.004672	0	0
PKD1L2	114780	broad.mit.edu	37	16	81190642	81190642	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:81190642G>T	ENST00000533478.1	-	0	2002				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCGAAGAAAGTGAGGTGGTT	0.572000													3	14					0.004672	0.00494062	0.004672	1	0
HDAC9	9734	broad.mit.edu	37	7	18633640	18633640	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:18633640C>T	ENST00000406451.3	+	6	793	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	HDAC9_ENST00000428307.2_Missense_Mutation_p.L215F|HDAC9_ENST00000441542.2_Missense_Mutation_p.L218F|HDAC9_ENST00000406072.1_Missense_Mutation_p.L246F|HDAC9_ENST00000432645.2_Missense_Mutation_p.L215F|HDAC9_ENST00000405010.3_Missense_Mutation_p.L215F|HDAC9_ENST00000401921.1_Missense_Mutation_p.L218F|HDAC9_ENST00000417496.2_Missense_Mutation_p.L257F|HDAC9_ENST00000524023.1_Missense_Mutation_p.L182F|HDAC9_ENST00000456174.2_Missense_Mutation_p.L187F	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	215	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGATTTCCCCCTTCGAAAAAC	0.433000													27	53					0	0	0.004656	0	0
VSIG1	340547	broad.mit.edu	37	X	107320544	107320544	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:107320544C>T	ENST00000415430.3	+	8	1366	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	VSIG1_ENST00000217957.5_Missense_Mutation_p.P366L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	366						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						gagccagagccagagtcagag	0.537000													24	20					0	0	0.003330	0	0
PREX1	57580	broad.mit.edu	37	20	47269243	47269243	+	Splice_Site	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:47269243C>T	ENST00000396220.1	-	21	2370	c.2346_splice	c.e21-1	p.G783_splice	PREX1_ENST00000371941.3_Splice_Site_p.G783_splice			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	783					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			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)			CTGGTACAGGCCCTGCCAGAA	0.652000													14	30					0	0	0.002450	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856432	62856432	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:62856432C>A	ENST00000584306.1	-	11	4362	c.3832G>T	c.(3832-3834)Gct>Tct	p.A1278S	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255S|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396S|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278S|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1278						integral to membrane		p.A1278T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAAATAGCGTGGGTTAAG	0.453000													46	33					6.60958e-23	9.95302e-23	0.003610	1	0
ZNF736	728927	broad.mit.edu	37	7	63809005	63809005	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:63809005G>A	ENST00000355095.4	+	5	1086	c.764G>A	c.(763-765)aGa>aAa	p.R255K	ZNF736_ENST00000423484.1_Missense_Mutation_p.R255K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ACTGGAGACAGACCCTACAAA	0.393000													3	12					0	0	0.004672	0	0
HOXD10	3236	broad.mit.edu	37	2	176983859	176983859	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:176983859G>A	ENST00000249501.4	+	2	1178	c.923G>A	c.(922-924)aGg>aAg	p.R308K	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	308						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTCACCGACAGGCAGGTCAAG	0.488000													19	72					0	0	0.007413	0	0
MGAM	8972	broad.mit.edu	37	7	141797445	141797445	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:141797445A>T	ENST00000475668.2	+	66	7799	c.7745A>T	c.(7744-7746)tAc>tTc	p.Y2582F	MGAM_ENST00000549489.2_Missense_Mutation_p.Y1686F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1686					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATGATTACTACACGGTAAGT	0.408000													11	39					0	0	0.010729	0	0
ASTN1	460	broad.mit.edu	37	1	176913026	176913026	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:176913026C>A	ENST00000367654.2	-	14	2415		c.e14+1		ASTN1_ENST00000367657.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000361833.2_Splice_Site			O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCACACTCACCAGTCAGGAA	0.502000													5	22					2.0095e-06	2.35738e-06	0.001984	1	0
CLEC4F	165530	broad.mit.edu	37	2	71036473	71036473	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:71036473A>G	ENST00000272367.2	-	7	1776	c.1700T>C	c.(1699-1701)aTt>aCt	p.I567T	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	567	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						AGAATTCACAATAATATACTT	0.532000													9	38					0	0	0.004482	0	0
UNC45A	55898	broad.mit.edu	37	15	91479205	91479205	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:91479205A>T	ENST00000394275.2	+	6	1033	c.198A>T	c.(196-198)gcA>gcT	p.A66A	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Silent_p.A81A	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	81					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AAACAGAGGCATCCAAAGGTA	0.562000													11	52					0	0	0.001368	0	0
MYH15	22989	broad.mit.edu	37	3	108102450	108102450	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:108102450C>G	ENST00000273353.3	-	41	5874	c.5818G>C	c.(5818-5820)Ggg>Cgg	p.G1940R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1940						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTTTTTCCCAAACTCTCTT	0.363000													18	69					0	0	0.004990	0	0
POTEF	728378	broad.mit.edu	37	2	130877775	130877775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:130877775C>A	ENST00000357462.5	-	1	407	c.314G>T	c.(313-315)tGc>tTc	p.C105F	POTEF_ENST00000360967.5_Missense_Mutation_p.C105F|POTEF_ENST00000361163.4_Missense_Mutation_p.C105F|POTEF_ENST00000409914.2_Missense_Mutation_p.C105F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	105						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGGGGAAGCAGTGGCAGCA	0.602000													32	164					8.72198e-27	1.33288e-26	0.003610	1	0
CORIN	10699	broad.mit.edu	37	4	47663847	47663847	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:47663847C>A	ENST00000273857.4	-	12	1615	c.1616G>T	c.(1615-1617)cGc>cTc	p.R539L	CORIN_ENST00000504584.1_Missense_Mutation_p.R502L|CORIN_ENST00000502252.1_Missense_Mutation_p.R472L|CORIN_ENST00000505909.1_Missense_Mutation_p.R502L|CORIN_ENST00000508498.1_Missense_Mutation_p.R400L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	539	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGACTCACAGCGTTCTTTAGA	0.418000													9	25					2.74318e-10	3.64108e-10	0.006214	1	0
XIRP2	129446	broad.mit.edu	37	2	168103167	168103167	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:168103167G>A	ENST00000409195.1	+	9	5354	c.5265G>A	c.(5263-5265)ttG>ttA	p.L1755L	XIRP2_ENST00000409273.1_Silent_p.L1533L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1755L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1580					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGGAGCTTTGGATTATCTGA	0.383000													12	37					0	0	0.010729	0	0
PRR16	51334	broad.mit.edu	37	5	120021742	120021742	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:120021742A>G	ENST00000379551.2	+	3	541	c.184A>G	c.(184-186)Agt>Ggt	p.S62G	PRR16_ENST00000407149.2_Missense_Mutation_p.S85G|PRR16_ENST00000446965.1_Missense_Mutation_p.S15G|PRR16_ENST00000505123.1_Missense_Mutation_p.S15G	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	85										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TAGTAGCTCAAGTGGCACAAC	0.532000													23	30					0	0	0.003330	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182622	140182622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:140182622G>A	ENST00000522353.2	+	1	1840	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G614R	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCTGGGACCGGCGG	0.687000													25	43					0	0	0.006320	0	0
ATP10A	57194	broad.mit.edu	37	15	25925388	25925388	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:25925388T>C	ENST00000356865.6	-	20	3857	c.3746A>G	c.(3745-3747)aAt>aGt	p.N1249S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1249					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACAAGACGCATTGTAAATCAA	0.483000													28	62					0	0	0.005443	0	0
C4orf46	201725	broad.mit.edu	37	4	159592889	159592889	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:159592889G>A	ENST00000379205.4	-	1	309	c.65C>T	c.(64-66)tCt>tTt	p.S22F	C4orf46_ENST00000508457.1_Missense_Mutation_p.S22F|C4orf46_ENST00000508836.1_Intron	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	22										kidney(1)|lung(3)|skin(1)	5						GGCGTCTGAAGAGGAGGGAGA	0.667000													5	11					0	0	0.000602	0	0
ZNF682	91120	broad.mit.edu	37	19	20116914	20116914	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:20116914G>A	ENST00000397165.2	-	4	1557	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.S390L|ZNF682_ENST00000358523.5_Missense_Mutation_p.S434L|ZNF682_ENST00000597972.1_Missense_Mutation_p.S472L|ZNF682_ENST00000397162.1_Missense_Mutation_p.S434L	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						ATTAAGATGTGAGCACCGTTT	0.378000													13	25					0	0	0.001368	0	0
RING1	6015	broad.mit.edu	37	6	33179629	33179629	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:33179629C>T	ENST00000374656.4	+	6	1177	c.969C>T	c.(967-969)gcC>gcT	p.A323A	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	323	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGGGGGCGCCTCTGACACCG	0.687000													12	32					0	0	0.010729	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406338	38406338	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:38406338G>C	ENST00000322350.5	+	7	1169	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	EGFLAM_ENST00000336740.6_Missense_Mutation_p.E41Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.E275Q|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	275						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATTTCCTTTGAGGAGGTAAC	0.428000													6	31					0	0	0.001168	0	0
RNF10	9921	broad.mit.edu	37	12	121009089	121009089	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:121009089G>T	ENST00000325954.4	+	14	2598	c.2137G>T	c.(2137-2139)Gcc>Tcc	p.A713S	RNF10_ENST00000542701.1_Intron|RNF10_ENST00000413266.2_Missense_Mutation_p.A718S	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	713					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTTCCTTTGCCCAGGTAAA	0.512000													36	79					1.36161e-19	2.02084e-19	0.004289	1	0
KCNU1	157855	broad.mit.edu	37	8	36766980	36766980	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:36766980T>C	ENST00000399881.3	+	21	2295	c.2258T>C	c.(2257-2259)tTc>tCc	p.F753S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	753						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			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)		GACATAGTGTTCATTGGGTCT	0.448000													24	531					0	0	0.002780	0	0
C1orf94	84970	broad.mit.edu	37	1	34666628	34666628	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:34666628T>C	ENST00000488417.1	+	3	1385	c.1265T>C	c.(1264-1266)cTg>cCg	p.L422P	C1orf94_ENST00000373374.3_Missense_Mutation_p.L232P	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	232							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGCCGGAGCTGAAATGTGAG	0.577000													3	7					0	0	0.004672	0	0
PDGFRA	5156	broad.mit.edu	37	4	55161376	55161376	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:55161376C>T	ENST00000257290.5	+	23	3538	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D	FIP1L1_ENST00000507166.1_Silent_p.D829D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1069	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCATTGAAGACATCGACATGA	0.542000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	91					0	0	0.004656	0	0
ROR1	4919	broad.mit.edu	37	1	64608317	64608317	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:64608317T>A	ENST00000371079.1	+	7	1533	c.1158T>A	c.(1156-1158)tgT>tgA	p.C386*	ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Nonsense_Mutation_p.C386*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	386	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CTGATCTGTGTGACATCCCAG	0.448000													9	32					0	0	0.006214	0	0
NLRP7	199713	broad.mit.edu	37	19	55451463	55451463	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:55451463G>A	ENST00000588756.1	-	6	1210	c.724C>T	c.(724-726)Cta>Tta	p.L242L	NLRP7_ENST00000592784.1_Silent_p.L242L|NLRP7_ENST00000590030.1_Silent_p.L242L|NLRP7_ENST00000448121.2_Silent_p.L242L|NLRP7_ENST00000446217.1_Silent_p.L270L|NLRP7_ENST00000328092.5_Silent_p.L242L|NLRP7_ENST00000340844.2_Silent_p.L242L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	242	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTTGGGCTAGGATGCTTGGA	0.567000													58	64					0	0	0.003610	0	0
HERC2P9	440248	broad.mit.edu	37	15	28900970	28900970	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:28900970C>T	ENST00000528584.1	+	0	191					NR_036443.1																						TTCCCCGACTCCGAGAACCCT	0.602000													18	25					0	0	0.007413	0	0
ARID4B	51742	broad.mit.edu	37	1	235384974	235384974	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:235384974C>A	ENST00000264183.3	-	14	1566	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E357*|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E357*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	357	ARID.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTCCACTTTCAATCTAATGG	0.289000													9	28					2.80697e-09	3.63214e-09	0.010729	1	0
TRPA1	8989	broad.mit.edu	37	8	72958765	72958765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:72958765G>T	ENST00000262209.4	-	17	2251	c.2044C>A	c.(2044-2046)Ccg>Acg	p.P682T	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	682						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTGTAAGCGGTTCATATATA	0.274000													15	47					3.45872e-05	3.94953e-05	0.004007	1	0
SMG6	23293	broad.mit.edu	37	17	2196257	2196257	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:2196257C>A	ENST00000544865.1	-	5	2583	c.2073G>T	c.(2071-2073)ttG>ttT	p.L691F	SMG6_ENST00000263073.5_Missense_Mutation_p.L722F			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	722					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGCACTGATCAAGGCATATT	0.443000													19	62					9.7654e-05	0.000109807	0.007413	1	0
KLHL6	89857	broad.mit.edu	37	3	183273205	183273205	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:183273205G>T	ENST00000341319.3	-	1	272	c.237C>A	c.(235-237)gaC>gaA	p.D79E		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	79	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATTCCTGAATGTCCACACACA	0.507000													27	93					4.87955e-14	6.86604e-14	0.005443	1	0
NAALAD2	10003	broad.mit.edu	37	11	89896504	89896504	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:89896504C>A	ENST00000534061.1	+	10	1332	c.1102C>A	c.(1102-1104)Cgg>Agg	p.R368R	NAALAD2_ENST00000525171.1_Silent_p.R275R|NAALAD2_ENST00000321955.4_Silent_p.R335R|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	368	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.R368W(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGAGGTCACCGGGACTCCTG	0.368000													29	81					2.08457e-15	2.97383e-15	0.010818	1	0
KIAA1211	57482	broad.mit.edu	37	4	57180246	57180246	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:57180246G>A	ENST00000504228.1	+	6	683	c.578G>A	c.(577-579)tGc>tAc	p.C193Y	KIAA1211_ENST00000264229.6_Missense_Mutation_p.C193Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.C186Y			Q6ZU35	K1211_HUMAN	KIAA1211	193										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGTCGGCCCTGCCTGGACCAG	0.542000													29	59					0	0	0.008361	0	0
STAC	6769	broad.mit.edu	37	3	36422206	36422206	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:36422206A>T	ENST00000273183.3	+	1	371	c.71A>T	c.(70-72)cAa>cTa	p.Q24L	STAC_ENST00000457375.2_Missense_Mutation_p.Q24L|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	24					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGCGCCGAGCAACCGCCCTCT	0.677000													5	11					0	0	0.001984	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379055	114379055	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:114379055A>G	ENST00000312719.5	-	5	1595	c.407T>C	c.(406-408)aTt>aCt	p.I136T	HS3ST5_ENST00000411826.1_Missense_Mutation_p.I136T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	136					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ATACCACTCAATGCCCTTACC	0.413000													27	61					0	0	0.003954	0	0
SLC35A1	10559	broad.mit.edu	37	6	88187120	88187120	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:88187120G>A	ENST00000544441.1	+	0	87				SLC35A1_ENST00000369557.5_Silent_p.V19V|C6orf165_ENST00000507897.1_3'UTR|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.V19V|SLC35A1_ENST00000369552.4_Silent_p.V19V|SLC35A1_ENST00000464978.1_3'UTR			P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1						carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTTGGCAGTGATGACCCTGA	0.363000													8	34					0	0	0.003080	0	0
GAD1	2571	broad.mit.edu	37	2	171700615	171700615	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:171700615G>C	ENST00000358196.3	+	7	1249	c.699G>C	c.(697-699)atG>atC	p.M233I	GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	233					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTAAGAAGATGAGAGAGATAG	0.373000													6	26					0	0	0.001984	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307923	39307923	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:39307923G>T	ENST00000541347.1	-	2	317	c.78C>A	c.(76-78)atC>atA	p.I26I	CX3CR1_ENST00000399220.2_Silent_p.I26I|CX3CR1_ENST00000542107.1_Silent_p.I26I|CX3CR1_ENST00000358309.3_Silent_p.I58I	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	26					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAAAGACCACGATGTCCCCAA	0.473000													10	25					3.86212e-05	4.39071e-05	0.008291	1	0
DENND3	22898	broad.mit.edu	37	8	142161011	142161011	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:142161011C>T	ENST00000519811.1	+	6	884	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	DENND3_ENST00000262585.2_Missense_Mutation_p.H192Y|DENND3_ENST00000424248.1_Missense_Mutation_p.H192Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	192	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGACCTTCACCTGCCCTT	0.602000													38	127					0	0	0.005524	0	0
FYN	2534	broad.mit.edu	37	6	112021338	112021338	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:112021338C>G	ENST00000354650.3	-	9	1437	c.831G>C	c.(829-831)ctG>ctC	p.L277L	FYN_ENST00000368667.2_Silent_p.L277L|FYN_ENST00000368682.3_Intron|FYN_ENST00000368678.4_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000229470.5_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000538466.1_Intron|FYN_ENST00000476769.2_5'UTR	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	277	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCCCATTTCCCAGTCTCTTGA	0.468000													33	86					0	0	0.004289	0	0
DMD	1756	broad.mit.edu	37	X	31947798	31947798	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:31947798G>A	ENST00000357033.4	-	47	7033	c.6827C>T	c.(6826-6828)cCc>cTc	p.P2276L	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.P2272L|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR	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	2276					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			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)				TACAAGCACGGGTCCTCCAGT	0.413000													5	24					0	0	0.000602	0	0
OR4N2	390429	broad.mit.edu	37	14	20295782	20295782	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:20295782C>T	ENST00000568211.1	+	1	175	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	OR4N2_ENST00000315947.1_Missense_Mutation_p.L59F			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L59V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CACAGCCCCCCTCTATTTCTT	0.463000													67	185					0	0	0.003610	0	0
CFH	3075	broad.mit.edu	37	1	196716381	196716381	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:196716381C>T	ENST00000367429.4	+	22	3874	c.3634C>T	c.(3634-3636)Cac>Tac	p.H1212Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1212	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCACGTTCTCACACATTGCG	0.393000													13	45					0	0	0.004990	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291040	141291040	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:141291040G>A	ENST00000247452.3	-	3	1081	c.734C>T	c.(733-735)tCt>tTt	p.S245F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	245	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCCTCAGAGGCACAGTT	0.522000										HNSCC(46;0.14)			53	37					0	0	0.003610	0	0
TMEM108	66000	broad.mit.edu	37	3	133099203	133099203	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:133099203C>A	ENST00000515826.1	+	3	771	c.648C>A	c.(646-648)atC>atA	p.I216I	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Silent_p.I216I|TMEM108_ENST00000393130.3_Silent_p.I216I			Q6UXF1	TM108_HUMAN	transmembrane protein 108	216						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGGGAAAATCTTTCAGATCT	0.602000													15	36					1.5739e-10	2.12745e-10	0.004007	1	0
TPTE	7179	broad.mit.edu	37	21	10944712	10944712	+	Silent	SNP	G	G	A	rs143624380	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:10944712G>A	ENST00000298232.7	-	10	835	c.468C>T	c.(466-468)gtC>gtT	p.V156V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.V136V|TPTE_ENST00000361285.4_Silent_p.V174V	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	174					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGTAAACGACATCAACCA	0.279000													17	144					0	0	0.006122	0	0
COLEC12	81035	broad.mit.edu	37	18	346704	346704	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:346704G>A	ENST00000400256.3	-	5	1125	c.918C>T	c.(916-918)gcC>gcT	p.A306A		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	306					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTGCTCGTTGGCTTGAGAGA	0.493000													21	29					0	0	0.010504	0	0
OR6N1	128372	broad.mit.edu	37	1	158736071	158736071	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:158736071G>T	ENST00000335094.2	-	1	421	c.402C>A	c.(400-402)acC>acA	p.T134T		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GGGTCATGAGGGTTGGGTAGT	0.517000													9	27					0.00829132	0.0086966	0.008291	1	0
INHBC	3626	broad.mit.edu	37	12	57843177	57843177	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:57843177C>G	ENST00000309668.2	+	2	558	c.431C>G	c.(430-432)aCc>aGc	p.T144S	INHBC_ENST00000550133.1_Missense_Mutation_p.T144S	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	144					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTTCCAATACCACTTGGACC	0.522000													45	136					0	0	0.011902	0	0
MKI67	4288	broad.mit.edu	37	10	129899921	129899921	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:129899921T>C	ENST00000368654.3	-	14	9681	c.9306A>G	c.(9304-9306)gaA>gaG	p.E3102E	MKI67_ENST00000368653.3_Silent_p.E2742E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3102			E -> G (in dbSNP:rs34750407).		cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTATTTGCTGTTCTGCCTCAG	0.378000													12	75					0	0	0.001855	0	0
ZNF131	7690	broad.mit.edu	37	5	43175188	43175188	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:43175188G>C	ENST00000509634.1	+	7	2179	c.1723G>C	c.(1723-1725)Gaa>Caa	p.E575Q	ZNF131_ENST00000399534.1_Missense_Mutation_p.E609Q|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E575Q|ZNF131_ENST00000509156.1_Missense_Mutation_p.E609Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E575Q			P52739	ZN131_HUMAN	zinc finger protein 131	609						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TTCTGAAGCAGAAAAGGCAGA	0.418000													8	20					0	0	0.003080	0	0
OFD1	8481	broad.mit.edu	37	X	13775793	13775793	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:13775793G>T	ENST00000380567.1	+	15	1878	c.1006G>T	c.(1006-1008)Gct>Tct	p.A336S	OFD1_ENST00000340096.6_Missense_Mutation_p.A476S|OFD1_ENST00000380550.3_Missense_Mutation_p.A436S|OFD1_ENST00000490265.1_3'UTR			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	476					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGCTCAGCCGGCTCCTGAACT	0.403000													14	8					4.3838e-07	5.25037e-07	0.001855	1	0
PFKFB2	5208	broad.mit.edu	37	1	207240959	207240959	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:207240959C>T	ENST00000367080.3	+	9	872	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R217C|PFKFB2_ENST00000541914.1_Missense_Mutation_p.R64C|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R250C|PFKFB2_ENST00000411990.2_Missense_Mutation_p.R152C	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	250	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CGTCCAGCCTCGCACCATTTA	0.512000													33	73					0	0	0.003271	0	0
ATRNL1	26033	broad.mit.edu	37	10	117093875	117093875	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:117093875C>G	ENST00000355044.3	+	19	3247	c.3121C>G	c.(3121-3123)Caa>Gaa	p.Q1041E	ATRNL1_ENST00000423111.2_Intron|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1041	Laminin EGF-like 1.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAGCAGTGTCAAGATTGTAT	0.373000													13	32					0	0	0.002450	0	0
TUBD1	51174	broad.mit.edu	37	17	57963583	57963583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:57963583C>A	ENST00000325752.3	-	3	458	c.181G>T	c.(181-183)Gcc>Tcc	p.A61S	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A61S|TUBD1_ENST00000592426.1_Missense_Mutation_p.A61S|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.A61S|TUBD1_ENST00000394239.3_Missense_Mutation_p.A61S	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	61					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACAGCCCGGGCAATTGGAACT	0.408000													21	20					1.28384e-07	1.55938e-07	0.012319	1	0
SLC44A5	204962	broad.mit.edu	37	1	75685018	75685018	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:75685018G>A	ENST00000370855.5	-	16	1303	c.1190C>T	c.(1189-1191)aCa>aTa	p.T397I	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T267I|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T397I	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	397						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACCCCCGATGTCGCCAAGAA	0.388000													18	38					0	0	0.008871	0	0
CLVS2	134829	broad.mit.edu	37	6	123318993	123318993	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:123318993C>A	ENST00000275162.4	+	2	1406	c.71C>A	c.(70-72)cCa>cAa	p.P24Q	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	24					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AATGAAAACCCAGACACGCTG	0.547000													9	41					0.000274275	0.000302466	0.004482	1	0
UNC45B	146862	broad.mit.edu	37	17	33496867	33496867	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:33496867G>C	ENST00000268876.5	+	11	1561	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	UNC45B_ENST00000433649.1_Missense_Mutation_p.K488N|UNC45B_ENST00000394570.2_Missense_Mutation_p.K488N|UNC45B_ENST00000591048.1_Intron|UNC45B_ENST00000378449.1_Intron	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	488					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACTCTGTAAGCTCGGCTCTG	0.547000													11	27					0	0	0.010729	0	0
NELFE	7936	broad.mit.edu	37	6	31922413	31922413	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:31922413C>A	ENST00000375429.3	-	7	887	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	NELFE_ENST00000444811.2_Missense_Mutation_p.D191Y|NELFE_ENST00000375425.5_Missense_Mutation_p.D228Y	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		cgatcccgatcccgatccctg	0.637000													5	32					1.23904e-05	1.41801e-05	0.000602	1	0
SHC3	53358	broad.mit.edu	37	9	91686121	91686121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:91686121C>A	ENST00000375835.4	-	5	1082	c.776G>T	c.(775-777)gGa>gTa	p.G259V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	259	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TACCGGGTCTCCCCCAGAGGC	0.498000													13	28					3.52763e-06	4.11957e-06	0.004990	1	0
PYDC2	152138	broad.mit.edu	37	3	191179074	191179074	+	Silent	SNP	C	C	T	rs141891926	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:191179074C>T	ENST00000518817.1	+	1	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	41	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542000													17	58					0	0	0.006122	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834277	179834277	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:179834277C>T	ENST00000553856.1	-	1	34	c.35G>A	c.(34-36)gGa>gAa	p.G12E	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					CCACTGTTGTCCACAATCAGG	0.418000													24	71					0	0	0.002780	0	0
MYO1E	4643	broad.mit.edu	37	15	59548495	59548495	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:59548495C>A	ENST00000288235.4	-	4	719	c.320G>T	c.(319-321)tGc>tTc	p.C107F	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	107	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATAATGACGCACTGGTTCTC	0.403000													9	27					0.00448238	0.00475964	0.004482	1	0
KIF2B	84643	broad.mit.edu	37	17	51900598	51900598	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:51900598C>A	ENST00000268919.4	+	1	360	c.204C>A	c.(202-204)ggC>ggA	p.G68G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	68					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAAAAAGGCAAGAAGATTG	0.562000													57	67					2.48254e-18	3.65288e-18	0.003610	1	0
XIRP2	129446	broad.mit.edu	37	2	167760007	167760007	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:167760007G>A	ENST00000409195.1	+	2	104	c.15G>A	c.(13-15)caG>caA	p.Q5Q	XIRP2_ENST00000420519.1_Silent_p.Q5Q|XIRP2_ENST00000409728.1_Silent_p.Q5Q|XIRP2_ENST00000409043.1_Silent_p.Q5Q|XIRP2_ENST00000295237.9_Silent_p.Q5Q|XIRP2_ENST00000409756.2_Silent_p.Q5Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCCAATGCAGAAGGGCTCCC	0.453000													9	63					0	0	0.004482	0	0
SORBS2	8470	broad.mit.edu	37	4	186578624	186578624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:186578624C>A	ENST00000431808.1	-	7	784	c.221G>T	c.(220-222)gGg>gTg	p.G74V	SORBS2_ENST00000393528.3_Missense_Mutation_p.G120V|SORBS2_ENST00000355634.5_Missense_Mutation_p.G174V|SORBS2_ENST00000284776.7_Missense_Mutation_p.G74V|SORBS2_ENST00000449407.2_Missense_Mutation_p.G160V|SORBS2_ENST00000448662.2_Missense_Mutation_p.G143V|SORBS2_ENST00000437304.2_Missense_Mutation_p.G253V|SORBS2_ENST00000319471.9_Missense_Mutation_p.G160V			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	74	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGCCCGATCCCTGGGTAATG	0.572000													12	11					1.08611e-07	1.33178e-07	0.010729	1	0
DLK1	8788	broad.mit.edu	37	14	101200908	101200908	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:101200908C>T	ENST00000341267.4	+	5	1069	c.827C>T	c.(826-828)cCg>cTg	p.P276L	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	276					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CACGAGCTGCCGGTGCAGCAG	0.647000													28	48					0	0	0.005443	0	0
GRIK3	2899	broad.mit.edu	37	1	37346315	37346315	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:37346315G>T	ENST00000373091.3	-	3	486	c.470C>A	c.(469-471)gCc>gAc	p.A157D	GRIK3_ENST00000373093.4_Missense_Mutation_p.A157D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	157					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCTGAGCGAGGCGTAGTCGGG	0.612000													34	98					3.11337e-16	4.47874e-16	0.002836	1	0
KIRREL2	84063	broad.mit.edu	37	19	36349766	36349766	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:36349766G>T	ENST00000360202.5	+	4	720	c.522_splice	c.e4+1	p.Q174_splice	KIRREL2_ENST00000347900.6_Splice_Site_p.Q124_splice|KIRREL2_ENST00000586102.2_Splice_Site_p.Q174_splice|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Splice_Site_p.Q174_splice|KIRREL2_ENST00000262625.7_Splice_Site_p.Q174_splice	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	174	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTCCATCAGGTCAGGTCCA	0.567000													21	34					1.37657e-19	2.03716e-19	0.012319	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73020903	73020903	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:73020903G>T	ENST00000263674.3	+	1	1570	c.1220G>T	c.(1219-1221)aGt>aTt	p.S407I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	407					actin cytoskeleton organization|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	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTATGGTCTAGTAGGGGTTCT	0.647000													16	51					1.15088e-07	1.40119e-07	0.004007	1	0
HERC2	8924	broad.mit.edu	37	15	28443806	28443806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:28443806C>A	ENST00000261609.7	-	49	7934	c.7826G>T	c.(7825-7827)tGt>tTt	p.C2609F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2609					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGCCAGTCACACTGCACATT	0.453000													30	69					8.16721e-17	1.18817e-16	0.010818	1	0
XIST	7503	broad.mit.edu	37	X	73066325	73066325	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:73066325G>A	ENST00000429829.1	-	0	6263					NR_001564.2																						TGCGTTATCAGCAACCCTTCT	0.463000													36	25					0	0	0.004289	0	0
MUC17	140453	broad.mit.edu	37	7	100677955	100677955	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:100677955T>C	ENST00000306151.4	+	3	3322	c.3258T>C	c.(3256-3258)gcT>gcC	p.A1086A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1086	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAACTGCTGACGGTACCA	0.507000													26	1366					0	0	0.004289	0	0
LCE1F	353137	broad.mit.edu	37	1	152749017	152749017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:152749017G>A	ENST00000334371.2	+	1	170	c.170G>A	c.(169-171)gGg>gAg	p.G57E		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	57					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAGCTCTGGGGGCTGCTGC	0.682000													13	67					0	0	0.001368	0	0
ZNF423	23090	broad.mit.edu	37	16	49672436	49672436	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:49672436G>C	ENST00000561648.1	-	4	680	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ZNF423_ENST00000567169.1_Silent_p.L92L|ZNF423_ENST00000535559.1_Silent_p.L92L|ZNF423_ENST00000262383.2_Silent_p.L209L|ZNF423_ENST00000562520.1_Silent_p.L149L|ZNF423_ENST00000563137.2_Silent_p.L149L|ZNF423_ENST00000562871.1_Silent_p.L149L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	209					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGGATCTTGAGGTGGTCGC	0.607000													10	42					0	0	0.006214	0	0
NSUN2	54888	broad.mit.edu	37	5	6618078	6618078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:6618078C>A	ENST00000264670.6	-	8	1186	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NSUN2_ENST00000506139.1_Missense_Mutation_p.S257I|NSUN2_ENST00000539938.1_Missense_Mutation_p.S56I	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	292						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAGCTGCAAGCTATTTAAGGT	0.393000													7	62					0.00307968	0.00328372	0.003080	1	0
GFI1B	8328	broad.mit.edu	37	9	135864485	135864485	+	Missense_Mutation	SNP	G	G	A	rs148728985		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:135864485G>A	ENST00000339463.3	+	9	1367	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	GFI1B_ENST00000372124.1_Intron|GFI1B_ENST00000372122.1_Missense_Mutation_p.R183Q|GFI1B_ENST00000534944.1_Intron|GFI1B_ENST00000372123.1_Intron|GFI1B_ENST00000450530.1_Missense_Mutation_p.R183Q			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	183	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GTGCATGTGCGACGCTCCCAT	0.667000													12	19					0	0	0.010729	0	0
MKL2	57496	broad.mit.edu	37	16	14346323	14346323	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:14346323C>G	ENST00000571589.1	+	15	2839	c.2667C>G	c.(2665-2667)atC>atG	p.I889M	MKL2_ENST00000574045.1_Missense_Mutation_p.I839M|MKL2_ENST00000341243.5_Missense_Mutation_p.I878M|MKL2_ENST00000318282.5_Missense_Mutation_p.I839M	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	878					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAGGCCATCAAGCAGACAC	0.582000													20	45					0	0	0.008871	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	24					0	0	0.004878	0	0
GGT6	124975	broad.mit.edu	37	17	4461429	4461429	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:4461429C>T	ENST00000301395.3	-	3	1326	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	GGT6_ENST00000381550.3_Missense_Mutation_p.E461K|GGT6_ENST00000574154.1_Missense_Mutation_p.E455K|GGT6_ENST00000573591.1_Missense_Mutation_p.E307K	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	455					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCTGTTGGTTCTTGCTGACCC	0.637000													10	47					0	0	0.006214	0	0
FCRL3	115352	broad.mit.edu	37	1	157659607	157659607	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:157659607G>T	ENST00000368184.3	-	10	2082	c.1791C>A	c.(1789-1791)gcC>gcA	p.A597A	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.A597A	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	597						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTCGGGCCCTGGCGTAATGCA	0.537000													15	28					6.31663e-08	7.80111e-08	0.003163	1	0
FGF6	2251	broad.mit.edu	37	12	4554430	4554430	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:4554430C>A	ENST00000228837.2	-	1	350	c.307G>T	c.(307-309)Gac>Tac	p.D103Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	103					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ATCCGGCCGTCGGGGAGCACC	0.632000													10	24					6.40141e-05	7.22966e-05	0.010729	1	0
EI24	9538	broad.mit.edu	37	11	125448120	125448120	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:125448120G>T	ENST00000278903.6	+	6	650	c.408G>T	c.(406-408)gtG>gtT	p.V136V	STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.V136V	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	136					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	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;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		CCTTGTTTGTGCTTAGCAAAG	0.498000													30	103					2.47511e-08	3.10141e-08	0.008361	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887380	12887380	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:12887380C>T	ENST00000535591.1	-	3	672	c.477G>A	c.(475-477)ctG>ctA	p.L159L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	159										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TCACCATTTTCAGGATGCTTC	0.478000													83	275					0	0	0.003610	0	0
CAPN5	726	broad.mit.edu	37	11	76830197	76830197	+	Splice_Site	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:76830197A>G	ENST00000278559.3	+	9	1478	c.1290_splice	c.e9+1	p.K430_splice	CAPN5_ENST00000529629.1_Splice_Site_p.K430_splice|CAPN5_ENST00000456580.2_Splice_Site_p.K470_splice|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	430	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GACATCTACAAGGTGAGGCCA	0.612000													6	9					0	0	0.001168	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651118	84651118	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:84651118G>T	ENST00000286744.5	+	21	2962	c.2738G>T	c.(2737-2739)cGt>cTt	p.R913L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R913L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	913	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGAGAAGCGTATTAACCTG	0.478000													25	71					1.66031e-10	2.23253e-10	0.003954	1	0
MOG	4340	broad.mit.edu	37	6	29627382	29627382	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:29627382C>T	ENST00000376894.4	+	2	493	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MOG_ENST00000416766.2_Silent_p.F125F|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Silent_p.F125F|MOG_ENST00000376902.3_Silent_p.F125F|MOG_ENST00000396704.3_Silent_p.F125F|MOG_ENST00000376891.4_Silent_p.F125F|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Silent_p.F125F|MOG_ENST00000533330.2_Silent_p.F125F|MOG_ENST00000376917.3_Silent_p.F125F|MOG_ENST00000494692.1_Silent_p.F125F|MOG_ENST00000490427.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376898.3_Silent_p.F125F			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	125	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AAGGAGGTTTCACCTGCTTCT	0.458000													8	40					0	0	0.004482	0	0
PTPRC	5788	broad.mit.edu	37	1	198671624	198671624	+	Missense_Mutation	SNP	G	G	T	rs138554556		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:198671624G>T	ENST00000367376.2	+	6	713	c.542G>T	c.(541-543)cGc>cTc	p.R181L	PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183L|PTPRC_ENST00000391970.3_3'UTR	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTACCTGCACGCACCTCCAAC	0.498000													54	172					4.70178e-45	7.29343e-45	0.003610	1	0
TNS1	7145	broad.mit.edu	37	2	218712763	218712763	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:218712763G>A	ENST00000171887.4	-	17	2554	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	TNS1_ENST00000419504.1_Missense_Mutation_p.S701F|TNS1_ENST00000430930.1_Missense_Mutation_p.S701F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	701						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCCTGCTGGGAGGCTGCTCG	0.597000													12	51					0	0	0.001855	0	0
SEC22B	9554	broad.mit.edu	37	1	145116048	145116048	+	RNA	SNP	C	C	T	rs12076894		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:145116048C>T	ENST00000453618.1	+	0	1134							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AAAGGTTGCACCTCATTTAAT	0.413000													3	19					0	0	0.004672	0	0
ZNF679	168417	broad.mit.edu	37	7	63726554	63726554	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:63726554G>T	ENST00000421025.1	+	5	812	c.543G>T	c.(541-543)aaG>aaT	p.K181N	ZNF679_ENST00000255746.4_Missense_Mutation_p.K181N	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATACTGGAAAGAAACATTTCA	0.318000													4	10					0.00024832	0.000274431	0.009096	1	0
GRIN3A	116443	broad.mit.edu	37	9	104432378	104432378	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:104432378C>T	ENST00000361820.3	-	3	2916	c.2316G>A	c.(2314-2316)aaG>aaA	p.K772K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	772					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCATAGATCTTCTCACCTA	0.393000													11	20					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82584810	82584810	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:82584810C>A	ENST00000423517.2	-	5	5796	c.5459G>T	c.(5458-5460)aGg>aTg	p.R1820M	PCLO_ENST00000333891.8_Missense_Mutation_p.R1820M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1751					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCCTTTCCCTTCTTCTCTG	0.428000													42	117					7.63091e-17	1.11329e-16	0.007835	1	0
C2orf80	389073	broad.mit.edu	37	2	209045510	209045510	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:209045510T>C	ENST00000341287.4	-	6	520	c.325A>G	c.(325-327)Att>Gtt	p.I109V	C2orf80_ENST00000451346.1_Missense_Mutation_p.I90V|C2orf80_ENST00000453017.1_Missense_Mutation_p.I109V	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	109										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GCCCCATAAATTTTAAAGACT	0.348000													17	33					0	0	0.010504	0	0
C1orf85	112770	broad.mit.edu	37	1	156263975	156263975	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:156263975T>C	ENST00000362007.1	-	4	658	c.632A>G	c.(631-633)cAc>cGc	p.H211R	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.H125R	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	211					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTCTGCTGTGTGCAGGAGGCG	0.617000													16	26					0	0	0.004007	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303798	107303798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:107303798G>A	ENST00000265715.3	+	3	446	c.222G>A	c.(220-222)tgG>tgA	p.W74*		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	74					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTTGGAGTGGCTCCCCAAAT	0.468000									Pendred syndrome				30	76					0	0	0.007291	0	0
SVEP1	79987	broad.mit.edu	37	9	113208255	113208255	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:113208255T>C	ENST00000401783.2	-	26	4661	c.4325A>G	c.(4324-4326)gAt>gGt	p.D1442G	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1419G|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1442G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1442	Pentaxin.			D -> V (in Ref. 1; CAF04067 and 3; BAB55420).	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGCATGCCATCTAGCATGAC	0.433000													18	26					0	0	0.006122	0	0
SLIT3	6586	broad.mit.edu	37	5	168222582	168222582	+	Splice_Site	SNP	G	G	C	rs143425660		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:168222582G>C	ENST00000519560.1	-	10	1356	c.935_splice	c.e10-1	p.R313_splice	SLIT3_ENST00000404867.3_Splice_Site_p.R313_splice|SLIT3_ENST00000332966.8_Splice_Site_p.R313_splice	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	313					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTCTAGGCGTCTGGGAAAC	0.512000													22	36					0	0	0.002299	0	0
ZNF92	168374	broad.mit.edu	37	7	64863949	64863949	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:64863949A>G	ENST00000328747.7	+	4	1121	c.922A>G	c.(922-924)Atg>Gtg	p.M308V	ZNF92_ENST00000357512.2_Missense_Mutation_p.M276V|ZNF92_ENST00000450302.2_Missense_Mutation_p.M239V|ZNF92_ENST00000431504.1_Missense_Mutation_p.M232V	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	308						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAGAATTCATATGGAAGATAA	0.328000													8	22					0	0	0.003080	0	0
HTT	3064	broad.mit.edu	37	4	3134601	3134601	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:3134601C>G	ENST00000355072.5	+	18	2601	c.2456C>G	c.(2455-2457)tCt>tGt	p.S819C		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	819					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAGGATGAGTCTTCTGTTACT	0.388000													35	77					0	0	0.007835	0	0
FBXW11	23291	broad.mit.edu	37	5	171384669	171384669	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:171384669C>A	ENST00000265094.5	-	2	216	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	FBXW11_ENST00000393802.2_Intron|FBXW11_ENST00000425623.2_Intron|FBXW11_ENST00000296933.6_Intron	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	27					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCAGGTTGGCGCAGCCTAGC	0.502000													25	60					9.57634e-11	1.30127e-10	0.003330	1	0
ALCAM	214	broad.mit.edu	37	3	105086291	105086291	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:105086291C>A	ENST00000306107.5	+	1	539	c.39C>A	c.(37-39)ttC>ttA	p.F13L	ALCAM_ENST00000472644.2_Missense_Mutation_p.F13L	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	13					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTCTGCTCTTCTGCCTCTTGA	0.647000													26	61					9.39395e-14	1.31464e-13	0.006320	1	0
TRPC5	7224	broad.mit.edu	37	X	111155945	111155945	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:111155945G>C	ENST00000262839.2	-	3	1392	c.474C>G	c.(472-474)atC>atG	p.I158M		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	158					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAAGCAATTTGATGATTTCGT	0.537000													30	24					0	0	0.008361	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169663679	169663679	+	RNA	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:169663679C>G	ENST00000483289.2	-	0	3615				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						TTTTACAGGGCAGGAGCCCCT	0.448000													20	51					0	0	0.007413	0	0
ANO5	203859	broad.mit.edu	37	11	22276990	22276990	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:22276990A>T	ENST00000324559.8	+	13	1571	c.1254A>T	c.(1252-1254)gaA>gaT	p.E418D		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	418						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGACTTTGAAGAGGAACAGC	0.378000													41	67					0	0	0.010771	0	0
TNR	7143	broad.mit.edu	37	1	175355328	175355328	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:175355328G>A	ENST00000367674.1	-	8	2325	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	TNR_ENST00000263525.2_Silent_p.G539G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	539	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCCCACCAGGCCATATTTCA	0.602000													10	30					0	0	0.006214	0	0
PDZD4	57595	broad.mit.edu	37	X	153073880	153073880	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:153073880G>A	ENST00000164640.4	-	2	422	c.231C>T	c.(229-231)acC>acT	p.T77T	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	77						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	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)					TATGCTCGAAGGTGATGTCGG	0.657000													20	7					0	0	0.007413	0	0
CHST8	64377	broad.mit.edu	37	19	34262337	34262337	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:34262337G>T	ENST00000262622.3	+	3	908	c.150G>T	c.(148-150)agG>agT	p.R50S	CHST8_ENST00000438847.2_Missense_Mutation_p.R50S|CHST8_ENST00000434302.1_Missense_Mutation_p.R50S	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	50					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			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)					TCAACATCAGGCCAAGGCAGC	0.517000											OREG0025417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	31					1.58986e-06	1.87364e-06	0.008291	1	0
SLC35F4	341880	broad.mit.edu	37	14	58060707	58060707	+	Missense_Mutation	SNP	T	T	A	rs145246618	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:58060707T>A	ENST00000556826.1	-	2	475	c.239A>T	c.(238-240)cAa>cTa	p.Q80L	SLC35F4_ENST00000339762.6_Missense_Mutation_p.Q116L|SLC35F4_ENST00000554729.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAGGATCCTTGGTTTTGAAG	0.478000													9	20					0	0	0.006214	0	0
PPRC1	23082	broad.mit.edu	37	10	103900471	103900471	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:103900471G>C	ENST00000278070.2	+	5	2245	c.2206G>C	c.(2206-2208)Gaa>Caa	p.E736Q	PPRC1_ENST00000413464.2_Missense_Mutation_p.E736Q	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTGAAAATTGAAAGTGGTAC	0.537000													35	79					0	0	0.002836	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330560	42330560	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:42330560G>C	ENST00000262418.6	-	17	2392	c.2237C>G	c.(2236-2238)aCc>aGc	p.T746S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	746	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCCCTGGGGTGCTGGCTTT	0.642000													40	33					0	0	0.006230	0	0
LCA5L	150082	broad.mit.edu	37	21	40792770	40792770	+	Splice_Site	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:40792770C>G	ENST00000358268.2	-	6	1366		c.e6-1		LCA5L_ENST00000288350.3_Splice_Site|LCA5L_ENST00000380671.2_Splice_Site			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like											breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTCCAAGCTCTGAAAACAGT	0.383000													4	21					0	0	0.000602	0	0
C20orf194	25943	broad.mit.edu	37	20	3321201	3321201	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:3321201C>A	ENST00000252032.9	-	10	998	c.931G>T	c.(931-933)Gga>Tga	p.G311*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.G50*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	311										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACCAGATGTCCTTCAGAAGGG	0.493000													13	39					0.000151284	0.000169005	0.001855	1	0
TBC1D24	57465	broad.mit.edu	37	16	2550821	2550821	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:2550821G>C	ENST00000567020.1	+	7	1664	c.1524G>C	c.(1522-1524)caG>caC	p.Q508H	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Missense_Mutation_p.Q514H|TBC1D24_ENST00000434757.2_Missense_Mutation_p.Q514H	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	514	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GAGGCGGCCAGGCGCTCTACA	0.647000											OREG0023552	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	22					0	0	0.008291	0	0
PCLO	27445	broad.mit.edu	37	7	82784333	82784333	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:82784333G>C	ENST00000423517.2	-	2	1961	c.1624C>G	c.(1624-1626)Caa>Gaa	p.Q542E	PCLO_ENST00000333891.8_Missense_Mutation_p.Q542E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	488	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGGCTGTTGAGCTGAGGGT	0.557000													109	255					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762719	176762719	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:176762719G>T	ENST00000367662.3	+	20	6208	c.5044G>T	c.(5044-5046)Gta>Tta	p.V1682L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1682	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCATTGTGTGTAATCCCCCC	0.473000													26	88					1.42536e-11	1.96799e-11	0.004656	1	0
DUOX2	50506	broad.mit.edu	37	15	45402112	45402112	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:45402112G>A	ENST00000389039.6	-	10	1492	c.1107C>T	c.(1105-1107)gtC>gtT	p.V369V	DUOX2_ENST00000603300.1_Silent_p.V369V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	369	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTTGTTGCAGACCCTGAGAG	0.507000													27	82					0	0	0.008361	0	0
KCNN2	3781	broad.mit.edu	37	5	113698773	113698773	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:113698773C>G	ENST00000512097.3	+	2	1319	c.301C>G	c.(301-303)Cac>Gac	p.H101D	KCNN2_ENST00000264773.3_Missense_Mutation_p.H101D			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	101	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		cgggagcgggcacggcagcag	0.642000													9	15					0	0	0.004482	0	0
TKTL2	84076	broad.mit.edu	37	4	164393900	164393900	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:164393900C>G	ENST00000280605.3	-	1	1147	c.987G>C	c.(985-987)ctG>ctC	p.L329L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	329						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ccagtttagccagagccaaac	0.428000													32	54					0	0	0.008361	0	0
COL4A4	1286	broad.mit.edu	37	2	227920778	227920778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:227920778C>G	ENST00000396625.3	-	30	2806	c.2599G>C	c.(2599-2601)Gga>Cga	p.G867R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G867R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	867	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTTCATTCCAGCTGGCCCG	0.632000													11	41					0	0	0.008291	0	0
ITIH5	80760	broad.mit.edu	37	10	7608072	7608072	+	Silent	SNP	C	C	T	rs138709165	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:7608072C>T	ENST00000256861.6	-	13	2526	c.2448G>A	c.(2446-2448)ccG>ccA	p.P816P	ITIH5_ENST00000446830.2_Silent_p.P598P|ITIH5_ENST00000298441.6_Silent_p.P602P|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	816					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGAAGGGCGCCGGCTTTTTGT	0.602000													23	52					0	0	0.012319	0	0
TRIB3	57761	broad.mit.edu	37	20	368838	368838	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:368838G>C	ENST00000217233.3	+	2	737	c.184G>C	c.(184-186)Gtg>Ctg	p.V62L	TRIB3_ENST00000422053.2_Missense_Mutation_p.V89L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	62					apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		TGCAACTGCTGTGGCCACTGC	0.672000													29	52					0	0	0.008361	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756141	145756141	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:145756141T>G	ENST00000276826.5	-	9	3203	c.3002A>C	c.(3001-3003)cAc>cCc	p.H1001P	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.H1001P|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.H1032P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	1001	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGCAGCGCGTGCACCACGGC	0.692000													14	18					0	0	0.002450	0	0
CEP152	22995	broad.mit.edu	37	15	49031027	49031027	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:49031027C>A	ENST00000380950.2	-	27	4739	c.4552G>T	c.(4552-4554)Gga>Tga	p.G1518*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.G1462*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1462					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCATGCATCCTGATTCAGAA	0.398000													16	54					1.3612e-06	1.60784e-06	0.003163	1	0
OAS2	4939	broad.mit.edu	37	12	113442796	113442796	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:113442796G>T	ENST00000392583.2	+	7	1444	c.1237G>T	c.(1237-1239)Gtg>Ttg	p.V413L	OAS2_ENST00000342315.4_Missense_Mutation_p.V413L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	413	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGATCTCGTCGTGTTCCATAA	0.473000													13	50					0.00010058	0.000112606	0.001368	1	0
CCDC85A	114800	broad.mit.edu	37	2	56603008	56603008	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:56603008G>A	ENST00000407595.2	+	5	2012	c.1510G>A	c.(1510-1512)Gct>Act	p.A504T	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	504										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAACTCTGCAGCTAGCTTCAG	0.443000													14	31					0	0	0.002450	0	0
HERC2	8924	broad.mit.edu	37	15	28482208	28482208	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:28482208G>C	ENST00000261609.7	-	26	4012	c.3904C>G	c.(3904-3906)Ctg>Gtg	p.L1302V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1302					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGTCTATCAGAGGTGAAGAG	0.448000													10	25					0	0	0.010729	0	0
PAH	5053	broad.mit.edu	37	12	103245481	103245481	+	Missense_Mutation	SNP	A	A	T	rs62642933		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:103245481A>T	ENST00000553106.1	-	8	1368	c.896T>A	c.(895-897)tTt>tAt	p.F299Y	PAH_ENST00000307000.2_Missense_Mutation_p.F294Y	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	299			F -> C (in PKU; haplotype 8).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AAACTGGGCAAAGCTGCGATC	0.488000													13	35					0	0	0.001855	0	0
CHD1	1105	broad.mit.edu	37	5	98210789	98210789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:98210789C>A	ENST00000284049.3	-	24	3576	c.3427G>T	c.(3427-3429)Ggt>Tgt	p.G1143C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1143					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCAGAGGACCACCAAATTTC	0.284000													11	20					0.000978159	0.00106053	0.010729	1	0
XIRP2	129446	broad.mit.edu	37	2	168099611	168099611	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:168099611T>G	ENST00000409195.1	+	9	1798	c.1709T>G	c.(1708-1710)cTg>cGg	p.L570R	XIRP2_ENST00000409273.1_Missense_Mutation_p.L348R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L570R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	395					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGAAATTCTGAAGGGAGAG	0.413000													9	16					0	0	0.004482	0	0
ROBO3	64221	broad.mit.edu	37	11	124743984	124743984	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:124743984A>T	ENST00000397801.1	+	12	1995	c.1803A>T	c.(1801-1803)acA>acT	p.T601T	ROBO3_ENST00000538940.1_Silent_p.T579T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	601	Fibronectin type-III 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGGCAACACATGGCGTACTG	0.547000													32	148					0	0	0.003755	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723720	7723720	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:7723720C>A	ENST00000303635.7	+	9	1320	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D371E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGACCCGGACATGGTGGACA	0.637000			T	WWTR1	epitheliod hemangioendothelioma								25	58					1.04121e-07	1.28283e-07	0.005443	1	0
SYNE2	23224	broad.mit.edu	37	14	64537567	64537567	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:64537567G>C	ENST00000358025.3	+	52	10866	c.10636G>C	c.(10636-10638)Ggg>Cgg	p.G3546R	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000555002.1_Missense_Mutation_p.G180R|SYNE2_ENST00000554584.1_Missense_Mutation_p.G3579R|SYNE2_ENST00000344113.4_Missense_Mutation_p.G3546R	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3546					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAAAGCTCAGGGGCTGTGGA	0.408000													6	26					0	0	0.001168	0	0
TET2	54790	broad.mit.edu	37	4	106155823	106155823	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:106155823G>T	ENST00000513237.1	+	3	1584	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	TET2_ENST00000305737.2_Missense_Mutation_p.V242L|TET2_ENST00000413648.2_Missense_Mutation_p.V242L|TET2_ENST00000545826.1_Missense_Mutation_p.V242L|TET2_ENST00000394764.1_Missense_Mutation_p.V242L|TET2_ENST00000380013.4_Missense_Mutation_p.V242L|TET2_ENST00000540549.1_Missense_Mutation_p.V242L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	242					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCCATTGCGGTGCAGAAAAC	0.443000			"""Mis N, F"""		MDS								6	29					0.00116845	0.00126153	0.001168	1	0
PTPN5	84867	broad.mit.edu	37	11	18765647	18765647	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:18765647G>T	ENST00000396170.1	-	4	1461	c.197C>A	c.(196-198)tCa>tAa	p.S66*	PTPN5_ENST00000396167.2_Nonsense_Mutation_p.S66*|PTPN5_ENST00000396171.4_Nonsense_Mutation_p.S66*|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Nonsense_Mutation_p.S42*|PTPN5_ENST00000358540.2_Nonsense_Mutation_p.S66*	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	66						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AGCTGGATCTGAGGGCGGCGA	0.647000													55	78					1.75667e-42	2.71677e-42	0.003610	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79057023	79057023	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:79057023C>A	ENST00000388820.4	-	20	4503	c.4293G>T	c.(4291-4293)gcG>gcT	p.A1431A		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1431	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCCTCCAGACCGCACCCAGGC	0.721000													6	11					0.00198382	0.00212847	0.001984	1	0
ELMO1	9844	broad.mit.edu	37	7	36910005	36910005	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:36910005T>A	ENST00000310758.4	-	20	2545	c.1898A>T	c.(1897-1899)cAa>cTa	p.Q633L	ELMO1_ENST00000341056.3_Missense_Mutation_p.Q335L|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q633L|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q153L|ELMO1_ENST00000396045.3_Missense_Mutation_p.Q153L|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q633L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	633	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TACCTTGTTTTGTTTAAGGGC	0.458000													16	51					0	0	0.004990	0	0
TRGV4	6977	broad.mit.edu	37	7	38393526	38393526	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:38393526G>T	ENST00000390345.2	-	0	477																											GGATGTAGCCGGTACTTCCTT	0.507000													20	58					2.4624e-09	3.20236e-09	0.008871	1	0
TLN2	83660	broad.mit.edu	37	15	63031593	63031593	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:63031593A>T	ENST00000561311.1	+	30	3964	c.3734A>T	c.(3733-3735)aAc>aTc	p.N1245I	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.N1245I			Q9Y4G6	TLN2_HUMAN	talin 2	1245					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTGAACTGAACCAGGCAGCA	0.582000													12	42					0	0	0.010729	0	0
NDNF	79625	broad.mit.edu	37	4	121957465	121957465	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:121957465G>C	ENST00000379692.4	-	4	2187	c.1661C>G	c.(1660-1662)tCt>tGt	p.S554C		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	554	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						ATACTTTACAGAGTGCCCCCC	0.398000													38	80					0	0	0.004878	0	0
PSG8	440533	broad.mit.edu	37	19	43258608	43258608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:43258608G>T	ENST00000404209.4	-	5	1216	c.1120C>A	c.(1120-1122)Cta>Ata	p.L374I	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Missense_Mutation_p.L281I|PSG8_ENST00000306511.4_Missense_Mutation_p.L374I|PSG8_ENST00000406636.3_Missense_Mutation_p.L252I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	374	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTCCTGATAGCTGAAACTTC	0.463000													95	124					3.21569e-47	5.00326e-47	0.003610	1	0
BRIP1	83990	broad.mit.edu	37	17	59853777	59853777	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:59853777G>C	ENST00000259008.2	-	14	2349	c.2082C>G	c.(2080-2082)ttC>ttG	p.F694L	BRIP1_ENST00000583837.1_5'UTR|BRIP1_ENST00000577598.1_Missense_Mutation_p.F694L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	694					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAGATGGCAAGAAACACAAAA	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					16	50					0	0	0.004990	0	0
WDR59	79726	broad.mit.edu	37	16	74976686	74976686	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:74976686T>G	ENST00000262144.6	-	7	614	c.484A>C	c.(484-486)Aac>Cac	p.N162H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	162										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAAGGCAGTTAGCATTTTTT	0.502000													13	27					0	0	0.001855	0	0
SPTA1	6708	broad.mit.edu	37	1	158606553	158606553	+	Splice_Site	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:158606553T>A	ENST00000368148.3	-	37	5370		c.e37-2		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AACTTCTCCCTAAAATCAAGG	0.473000													28	74					0	0	0.006320	0	0
KIAA1524	57650	broad.mit.edu	37	3	108300277	108300277	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:108300277C>G	ENST00000295746.8	-	5	610	c.534G>C	c.(532-534)acG>acC	p.T178T	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Silent_p.T19T	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	178						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTTATGTGCGTTTGAACAG	0.299000													7	16					0	0	0.003080	0	0
TRIM8	81603	broad.mit.edu	37	10	104416717	104416717	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:104416717C>G	ENST00000302424.6	+	6	1384	c.1262C>G	c.(1261-1263)tCc>tGc	p.S421C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	421						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCCTGCAGCTCCACGCAGCAC	0.721000													17	57					0	0	0.004990	0	0
SMYD5	10322	broad.mit.edu	37	2	73441457	73441457	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:73441457C>T	ENST00000389501.4	+	1	108	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	21							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GCGCGCGGGTCTCCGTGGAAG	0.711000													43	133					0	0	0.008740	0	0
FAM47C	442444	broad.mit.edu	37	X	37027568	37027568	+	Missense_Mutation	SNP	G	G	A	rs149671724	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:37027568G>A	ENST00000358047.3	+	1	1137	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	362										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						CCAGAGACTCGCGTATCTCCT	0.647000													44	37					0	0	0.011902	0	0
KLK12	43849	broad.mit.edu	37	19	51535216	51535216	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:51535216G>C	ENST00000525263.1	-	3	492	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.Q125E|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Missense_Mutation_p.Q125E			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	125	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GGCAGGGGTTGAACGCTGCTG	0.687000													18	27					0	0	0.004990	0	0
ANKRD20A1	84210	broad.mit.edu	37	9	67968389	67968389	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:67968389A>C	ENST00000377477.2	+	15	2060	c.1948A>C	c.(1948-1950)Att>Ctt	p.I650L		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						GAGTTCTGCTATTTCCAAAGT	0.328000													31	138					0	0	0.009535	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762436	48762436	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:48762436G>C	ENST00000376521.1	-	4	1071	c.750C>G	c.(748-750)ctC>ctG	p.L250L	SLC35A2_ENST00000452555.2_Silent_p.L278L|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Silent_p.L250L|SLC35A2_ENST00000413561.2_Silent_p.L189L	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	250					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CAGCCCACCAGAGCCCCACCA	0.627000													3	6					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	36					0	0	0.009096	0	0
HCN4	10021	broad.mit.edu	37	15	73624565	73624565	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:73624565G>A	ENST00000261917.3	-	3	2271	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	426					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGCAGAGCAGGAGCATCATGC	0.587000													8	50					0	0	0.004482	0	0
DMD	1756	broad.mit.edu	37	X	32662424	32662424	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:32662424T>C	ENST00000357033.4	-	11	1362	c.1156A>G	c.(1156-1158)Atg>Gtg	p.M386V	DMD_ENST00000288447.4_Missense_Mutation_p.M378V|DMD_ENST00000378677.2_Missense_Mutation_p.M382V	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	386					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			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)				AAATCCATCATGTACCCCTGA	0.383000													19	6					0	0	0.012319	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147248	26147248	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:26147248C>A	ENST00000331351.5	+	2	1442	c.1050C>A	c.(1048-1050)tcC>tcA	p.S350S	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	350					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.S350S(2)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCCCCCTCTCCCAGATCCTCT	0.532000													26	112					6.36457e-07	7.5874e-07	0.003954	1	0
PSG7	5676	broad.mit.edu	37	19	43429935	43429935	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:43429935G>T	ENST00000446844.3	-	0	1322				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				CAGAGACTCTGACTGTCACGG	0.463000													79	111					8.78217e-53	1.37055e-52	0.003610	1	0
UGT2B10	7365	broad.mit.edu	37	4	69696438	69696438	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:69696438A>T	ENST00000265403.7	+	6	1455	c.1428A>T	c.(1426-1428)cgA>cgT	p.R476R	UGT2B10_ENST00000458688.2_Silent_p.R392R	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	476					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AACATCTTCGAGTTGCAGCCC	0.468000													47	204					0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137710716	137710716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:137710716C>T	ENST00000371817.3	+	56	4775	c.4361C>T	c.(4360-4362)tCc>tTc	p.S1454F		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1454	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCCAGGATCCCCAGGCCCG	0.632000													18	31					0	0	0.006122	0	0
HIPK4	147746	broad.mit.edu	37	19	40886710	40886710	+	Silent	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:40886710A>T	ENST00000291823.2	-	3	1472	c.1188T>A	c.(1186-1188)gcT>gcA	p.A396A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	396						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCTTCTCCTCAGCCAGACAGT	0.652000													20	53					0	0	0.007413	0	0
BOLL	66037	broad.mit.edu	37	2	198631311	198631311	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:198631311C>A	ENST00000321801.7	-	7	1103	c.533G>T	c.(532-534)aGc>aTc	p.S178I	BOLL_ENST00000392296.4_Missense_Mutation_p.S166I|BOLL_ENST00000433157.1_Missense_Mutation_p.S166I|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000282278.8_Missense_Mutation_p.S57I|BOLL_ENST00000430004.1_Missense_Mutation_p.S166I	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	166	DAZ-like.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CACAGGGGAGCTACATACAGA	0.343000													6	29					0.00307968	0.00328372	0.003080	1	0
SLC3A1	6519	broad.mit.edu	37	2	44508034	44508034	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:44508034G>A	ENST00000260649.6	+	2	686	c.610_splice	c.e2+1	p.G204_splice	SLC3A1_ENST00000410056.3_Splice_Site_p.G204_splice|SLC3A1_ENST00000409741.1_Splice_Site_p.G204_splice|SLC3A1_ENST00000409387.1_Splice_Site_p.G204_splice|SLC3A1_ENST00000409229.3_Splice_Site_p.G204_splice	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	204					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACATGATAAAGGTAAGTTGAA	0.373000													9	32					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763259	77763259	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:77763259G>T	ENST00000521891.2	+	10	4550	c.4102G>T	c.(4102-4104)Gtg>Ttg	p.V1368L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.V1323L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V1342L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V1323L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1323						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGTAAGGATGTGAAAATCCC	0.418000										HNSCC(33;0.089)			9	26					3.09899e-07	3.72023e-07	0.004482	1	0
CHRM5	1133	broad.mit.edu	37	15	34355599	34355599	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:34355599G>T	ENST00000383263.5	+	3	1351	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CHRM5_ENST00000557872.1_Silent_p.L227L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	227					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CCAAGGACCTGGCTGACCTCC	0.537000													72	134					4.29146e-36	6.61707e-36	0.003610	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28338125	28338125	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:28338125C>G	ENST00000284987.5	-	1	707	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	196					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGAAGCCCTCGCGGGTGTAG	0.697000													9	4					0	0	0.010729	0	0
NFASC	23114	broad.mit.edu	37	1	204955197	204955197	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:204955197G>A	ENST00000367172.4	+	23	3074	c.2746G>A	c.(2746-2748)Gat>Aat	p.D916N	NFASC_ENST00000404076.1_Missense_Mutation_p.D895N|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000539706.1_Missense_Mutation_p.D912N|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000404907.1_Missense_Mutation_p.D912N|NFASC_ENST00000338515.6_Missense_Mutation_p.D916N|NFASC_ENST00000367170.4_Missense_Mutation_p.D916N|NFASC_ENST00000367171.4_Missense_Mutation_p.D901N|NFASC_ENST00000513543.1_Missense_Mutation_p.D912N|NFASC_ENST00000360049.4_Missense_Mutation_p.D912N|NFASC_ENST00000338586.6_Missense_Mutation_p.D916N|NFASC_ENST00000367169.4_Intron			O94856	NFASC_HUMAN	neurofascin	916	Fibronectin type-III 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGAGAGGTGATGGGCCTCG	0.617000													7	33					0	0	0.003080	0	0
MRPL39	54148	broad.mit.edu	37	21	26979749	26979749	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:26979749G>C	ENST00000307301.7	-	1	80	c.39C>G	c.(37-39)ctC>ctG	p.L13L	MRPL39_ENST00000352957.4_Silent_p.L13L	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	13						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CGACCAGCCAGAGCCGCAGCG	0.647000											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	30					0	0	0.012319	0	0
SPG20	23111	broad.mit.edu	37	13	36900714	36900714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr13:36900714G>A	ENST00000451493.1	-	5	1503	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	SPG20_ENST00000438666.2_Missense_Mutation_p.S429L|SPG20_ENST00000494062.2_Missense_Mutation_p.S429L|SPG20_ENST00000355182.4_Missense_Mutation_p.S429L|SPG20_ENST00000495510.1_5'UTR	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	429					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TGTAATACCTGACAAAATGTT	0.338000													9	16					0	0	0.001368	0	0
AGO2	27161	broad.mit.edu	37	8	141542188	141542188	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:141542188C>A	ENST00000220592.5	-	19	2647	c.2535G>T	c.(2533-2535)gcG>gcT	p.A845A	AGO2_ENST00000519980.1_Silent_p.A811A	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GAACCTGGACCGCCTTGGCCA	0.522000													122	170					6.24756e-60	9.77961e-60	0.003610	1	0
HABP2	3026	broad.mit.edu	37	10	115348000	115348000	+	Missense_Mutation	SNP	G	G	C	rs143492790	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:115348000G>C	ENST00000351270.3	+	13	1651	c.1555G>C	c.(1555-1557)Ggc>Cgc	p.G519R	HABP2_ENST00000542051.1_Missense_Mutation_p.G493R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	519	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TGAGAAGGACGGCACCTACTA	0.552000													18	61					0	0	0.010504	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62801120	62801120	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:62801120C>T	ENST00000582986.1	-	0	712					NR_024386.1																						ACTCTGGAGTCCCCCTGTAAG	0.532000													3	25					0	0	0.004672	0	0
RGS7	6000	broad.mit.edu	37	1	240978031	240978031	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:240978031G>T	ENST00000366565.1	-	12	1211	c.830C>A	c.(829-831)tCa>tAa	p.S277*	RGS7_ENST00000446183.2_Nonsense_Mutation_p.S193*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.S251*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.S277*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.S277*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.S224*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.S224*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	277	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AGCGACTTTTGACATTTTTAA	0.303000													19	49					4.96729e-08	6.16423e-08	0.008871	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68138360	68138360	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:68138360C>T	ENST00000262215.3	-	28	4364	c.3975G>A	c.(3973-3975)aaG>aaA	p.K1325K	ARFGEF1_ENST00000518230.1_Silent_p.K163K|ARFGEF1_ENST00000520381.1_Silent_p.K779K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1325					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAGACAAACACTTCACTGCAT	0.358000													9	15					0	0	0.001368	0	0
ATP10B	23120	broad.mit.edu	37	5	159996664	159996664	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:159996664G>A	ENST00000327245.5	-	25	4623	c.3777C>T	c.(3775-3777)ctC>ctT	p.L1259L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1259					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAAGCTGCCGAGGAGCACGA	0.507000													10	22					0	0	0.008291	0	0
RASAL1	8437	broad.mit.edu	37	12	113546025	113546025	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:113546025A>T	ENST00000546530.1	-	15	1665	c.1380T>A	c.(1378-1380)gaT>gaA	p.D460E	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Missense_Mutation_p.D459E|RASAL1_ENST00000548055.1_Missense_Mutation_p.D459E|RASAL1_ENST00000446861.3_Missense_Mutation_p.D459E	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	459	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGTACTTCACATCCTGCTGGG	0.537000													5	27					0	0	0.001168	0	0
F13A1	2162	broad.mit.edu	37	6	6266855	6266855	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:6266855G>C	ENST00000264870.3	-	4	772	c.507C>G	c.(505-507)ggC>ggG	p.G169G		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	169					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGAAGTACGCCATAGGGAG	0.458000													22	47					0	0	0.003330	0	0
TDRD5	163589	broad.mit.edu	37	1	179620127	179620127	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:179620127C>G	ENST00000444136.1	+	12	2176	c.1926C>G	c.(1924-1926)aaC>aaG	p.N642K	TDRD5_ENST00000367614.1_Missense_Mutation_p.N642K|TDRD5_ENST00000294848.8_Missense_Mutation_p.N642K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	642					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CATCCTCAAACGAAGATGTCT	0.413000													10	43					0	0	0.008291	0	0
BRCA1	672	broad.mit.edu	37	17	41246294	41246294	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:41246294C>G	ENST00000309486.4	-	9	1393	c.366G>C	c.(364-366)gaG>gaC	p.E122D	BRCA1_ENST00000354071.3_Missense_Mutation_p.E418D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E418D|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E371D|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E418D|BRCA1_ENST00000346315.3_Missense_Mutation_p.E418D	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	418					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTCATCTACCTCATTTAGAA	0.393000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			38	35					0	0	0.004289	0	0
COL5A2	1290	broad.mit.edu	37	2	189975154	189975154	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:189975154G>A	ENST00000374866.3	-	2	393	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	40	VWFC.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGAGTGCAGGCTATTTCTTC	0.393000													12	38					0	0	0.001368	0	0
RBM5	10181	broad.mit.edu	37	3	50137473	50137473	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:50137473A>T	ENST00000347869.3	+	5	573	c.398A>T	c.(397-399)aAg>aTg	p.K133M	RBM5_ENST00000469838.1_Missense_Mutation_p.K133M	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	133	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCTGATGAAGAGGAAAACA	0.458000													3	9					0	0	0.004672	0	0
CTC1	80169	broad.mit.edu	37	17	8134633	8134633	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:8134633G>C	ENST00000315684.8	-	15	2637	c.2630C>G	c.(2629-2631)tCa>tGa	p.S877*		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	877					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTCAGGCAATGACTTGTTTGC	0.522000													17	49					0	0	0.004990	0	0
CPXM2	119587	broad.mit.edu	37	10	125526609	125526609	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:125526609G>T	ENST00000241305.3	-	10	1513	c.1359C>A	c.(1357-1359)aaC>aaA	p.N453K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	453					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAAAGTTGTTGTTGATGTCAA	0.532000													18	79					5.03518e-11	6.89659e-11	0.007413	1	0
FZD3	7976	broad.mit.edu	37	8	28384969	28384969	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:28384969T>G	ENST00000240093.3	+	5	1170	c.692T>G	c.(691-693)tTc>tGc	p.F231C	FZD3_ENST00000537916.1_Missense_Mutation_p.F231C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	231					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		GTCACAAGATTCCGTTATCCT	0.358000													10	44					0	0	0.006214	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769311	140769311	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:140769311C>A	ENST00000519479.1	+	1	1860	c.1860C>A	c.(1858-1860)cgC>cgA	p.R620R	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGGCTGCGCACGGGCGAAG	0.692000													30	31					1.2476e-16	1.80481e-16	0.006320	1	0
CDH23	64072	broad.mit.edu	37	10	73270967	73270967	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:73270967G>C	ENST00000224721.6	+	5	432	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	CDH23_ENST00000461841.3_Missense_Mutation_p.E188Q|CDH23_ENST00000398809.4_Missense_Mutation_p.E143Q|CDH23_ENST00000299366.7_Missense_Mutation_p.E188Q|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Missense_Mutation_p.E143Q	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	143	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCATCCCTGAGGTAGGAGC	0.572000													7	64					0	0	0.003163	0	0
SMG1	23049	broad.mit.edu	37	16	18882025	18882025	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:18882025T>A	ENST00000446231.2	-	18	2811	c.2399A>T	c.(2398-2400)gAt>gTt	p.D800V	SMG1_ENST00000389467.3_Missense_Mutation_p.D800V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	800	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACGGCAAACATCGACACATCT	0.368000													4	8					0	0	0.001168	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32548584	32548584	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:32548584G>T	ENST00000360004.5	-	4	807	c.702C>A	c.(700-702)ggC>ggA	p.G234G		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CCAGCACAAAGCCCCCGACTC	0.517000										Multiple Myeloma(14;0.17)			15	155					6.49762e-13	9.06849e-13	0.006122	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716907	142716907	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:142716907T>C	ENST00000381779.4	-	2	2243	c.2018A>G	c.(2017-2019)cAc>cGc	p.H673R	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H673R|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H673R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	673						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGGTTTTGTGGTCATGCTT	0.473000													41	48					0	0	0.009718	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081478	126081478	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:126081478C>G	ENST00000298317.4	-	1	109	c.56G>C	c.(55-57)gGt>gCt	p.G19A	FAM118B_ENST00000533050.1_5'UTR|RPUSD4_ENST00000533628.1_Missense_Mutation_p.G19A	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	19					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ACTCCCGCAACCTTGGCCGTT	0.637000													45	153					0	0	0.003610	0	0
KIT	3815	broad.mit.edu	37	4	55561880	55561880	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:55561880C>T	ENST00000288135.5	+	2	367	c.270C>T	c.(268-270)acC>acT	p.T90T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	90	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGAAGCCACCAACACCGGCA	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				12	29					0	0	0.001368	0	0
ALOX5	240	broad.mit.edu	37	10	45907757	45907757	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:45907757A>G	ENST00000374391.2	+	4	603	c.550A>G	c.(550-552)Aaa>Gaa	p.K184E	ALOX5_ENST00000542434.1_Missense_Mutation_p.K184E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	184	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GAATTACTCCAAAGCGTAAGT	0.517000													17	37					0	0	0.004990	0	0
TPO	7173	broad.mit.edu	37	2	1497633	1497633	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:1497633A>T	ENST00000345913.4	+	11	1919	c.1828A>T	c.(1828-1830)Agc>Tgc	p.S610C	TPO_ENST00000337415.3_Missense_Mutation_p.S610C|TPO_ENST00000382198.1_Missense_Mutation_p.S437C|TPO_ENST00000329066.4_Missense_Mutation_p.S610C|TPO_ENST00000346956.3_Missense_Mutation_p.S610C|TPO_ENST00000382201.3_Missense_Mutation_p.S553C|TPO_ENST00000349624.3_Missense_Mutation_p.S437C|TPO_ENST00000497517.2_3'UTR	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	610					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCTGACCTGAGCACAGCCAT	0.582000													20	21					0	0	0.007413	0	0
PALLD	23022	broad.mit.edu	37	4	169606657	169606657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:169606657C>A	ENST00000335742.7	+	6	1493	c.136C>A	c.(136-138)Ctc>Atc	p.L46I	PALLD_ENST00000505667.1_Missense_Mutation_p.L428I|PALLD_ENST00000333488.4_Missense_Mutation_p.L305I|PALLD_ENST00000512127.1_Missense_Mutation_p.L46I|PALLD_ENST00000261509.6_Missense_Mutation_p.L428I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	428					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACTTCATATCTCTGCCGACC	0.393000									Pancreatic Cancer, Familial Clustering of				31	59					1.71298e-08	2.16222e-08	0.003755	1	0
CNTN1	1272	broad.mit.edu	37	12	41410667	41410667	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:41410667A>G	ENST00000551295.2	+	19	2485	c.2368A>G	c.(2368-2370)Aaa>Gaa	p.K790E	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000348761.2_Missense_Mutation_p.K779E|CNTN1_ENST00000347616.1_Missense_Mutation_p.K790E	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	790	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTCAACAACAAAGGAGATGG	0.428000													11	32					0	0	0.001855	0	0
TECPR2	9895	broad.mit.edu	37	14	102906783	102906783	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:102906783C>T	ENST00000359520.7	+	11	2815	c.2589C>T	c.(2587-2589)ctC>ctT	p.L863L	TECPR2_ENST00000558678.1_Silent_p.L863L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	863							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGCCCTTCTCTGGAAGATTG	0.438000													17	92					0	0	0.006122	0	0
AOC3	8639	broad.mit.edu	37	17	41004694	41004694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:41004694C>G	ENST00000308423.2	+	1	1494	c.1334C>G	c.(1333-1335)tCa>tGa	p.S445*		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	445					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CGACACCACTCAGATCTCTAC	0.542000													18	58					0	0	0.004990	0	0
DDX3Y	8653	broad.mit.edu	37	Y	15021274	15021274	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrY:15021274G>A	ENST00000336079.3	+	3	213	c.107G>A	c.(106-108)gGg>gAg	p.G36E	DDX3Y_ENST00000360160.4_Missense_Mutation_p.G36E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	36						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTTTTAGAAGGGCGCTATATA	0.358000													3	5					0	0	0.004672	0	0
HECW1	23072	broad.mit.edu	37	7	43351470	43351470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:43351470G>T	ENST00000395891.1	+	4	741	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	HECW1_ENST00000453890.1_Missense_Mutation_p.D46Y	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	46					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTACAACCCCGACCAGTTCCA	0.637000													16	60					1.5739e-10	2.12745e-10	0.004007	1	0
SRGAP3	9901	broad.mit.edu	37	3	9027454	9027454	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:9027454C>A	ENST00000383836.3	-	22	3476	c.3049G>T	c.(3049-3051)Gtc>Ttc	p.V1017F	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V993F	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	1017					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCGCGGATGACGATGGTGTGA	0.692000			T	RAF1	pilocytic astrocytoma								24	34					5.45024e-15	7.71119e-15	0.003330	1	0
AHNAK2	113146	broad.mit.edu	37	14	105411033	105411033	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:105411033C>G	ENST00000333244.5	-	7	10874	c.10755G>C	c.(10753-10755)ctG>ctC	p.L3585L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3585						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGGCCTTTCAGGTCCAGCT	0.602000													44	184					0	0	0.010771	0	0
WDR49	151790	broad.mit.edu	37	3	167249022	167249022	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:167249022G>C	ENST00000308378.3	-	9	1348	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	WDR49_ENST00000476376.1_Missense_Mutation_p.S173C|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.S412C	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	348										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATGGGGTGGGAGGGTTGGCT	0.428000													18	45					0	0	0.008871	0	0
GRID2	2895	broad.mit.edu	37	4	94344119	94344119	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:94344119G>T	ENST00000282020.4	+	10	1803	c.1545_splice	c.e10+1	p.K515_splice	GRID2_ENST00000510992.1_Splice_Site_p.K420_splice	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	515					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTGTCTTTAAGGTAAGAATTA	0.358000													9	21					1.12685e-05	1.29538e-05	0.004482	1	0
OR12D2	26529	broad.mit.edu	37	6	29365235	29365235	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:29365235T>A	ENST00000383555.2	+	1	820	c.759T>A	c.(757-759)ccT>ccA	p.P253P	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCTATGCACCTGTTCTTTTCA	0.458000													42	115					0	0	0.008740	0	0
HELZ2	85441	broad.mit.edu	37	20	62193280	62193280	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr20:62193280T>C	ENST00000467148.1	-	11	6656	c.6587A>G	c.(6586-6588)cAg>cGg	p.Q2196R	HELZ2_ENST00000427522.2_Missense_Mutation_p.Q1627R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CACCTGCTCCTGGTTTGATTT	0.607000													15	8					0	0	0.003163	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352425	135352425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:135352425G>T	ENST00000463117.2	+	11	1711	c.1439G>T	c.(1438-1440)tGt>tTt	p.C480F	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.C480F			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	480					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGGTTTGGCTGTATCCCACCA	0.448000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				39	25					2.40579e-17	3.51984e-17	0.006230	1	0
RBM5	10181	broad.mit.edu	37	3	50137474	50137474	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:50137474G>C	ENST00000347869.3	+	5	574	c.399G>C	c.(397-399)aaG>aaC	p.K133N	RBM5_ENST00000469838.1_Missense_Mutation_p.K133N	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	133	RRM 1.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGATGAAGAGGAAAACAG	0.458000													3	9					0	0	0.004672	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192796	132192796	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:132192796A>T	ENST00000359827.3	-	2	1619	c.657T>A	c.(655-657)caT>caA	p.H219Q	PLXNA4_ENST00000378539.5_Missense_Mutation_p.H219Q|PLXNA4_ENST00000321063.4_Missense_Mutation_p.H219Q|PLXNA4_ENST00000423507.2_Missense_Mutation_p.H219Q			Q9HCM2	PLXA4_HUMAN	plexin A4	219	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGAACTCATCATGGAAGACGT	0.507000													38	75					0	0	0.006999	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250767	26250767	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:26250767T>G	ENST00000446824.2	-	1	68	c.67A>C	c.(67-69)Act>Cct	p.T23P		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	23					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						GCCGCCTTAGTGGCCAGCTGC	0.607000													33	56					0	0	0.012213	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396358	22396358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:22396358G>T	ENST00000263160.3	+	9	1536	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCCTATTGGGGGACAAATTGC	0.383000													36	69					1.23537e-32	1.89916e-32	0.004289	1	0
FAM199X	139231	broad.mit.edu	37	X	103431141	103431141	+	Splice_Site	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:103431141G>A	ENST00000493442.1	+	4	734	c.567_splice	c.e4-1	p.V190_splice	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	190										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATCACATAGGTGGAATATAT	0.333000													12	9					0	0	0.001368	0	0
LHFPL1	340596	broad.mit.edu	37	X	111903860	111903860	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:111903860T>A	ENST00000371968.3	-	3	715	c.476A>T	c.(475-477)cAg>cTg	p.Q159L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	159						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTTACCTAACTGAAATTGATT	0.473000													80	58					0	0	0.003610	0	0
ZNF423	23090	broad.mit.edu	37	16	49672370	49672370	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:49672370G>A	ENST00000561648.1	-	4	746	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ZNF423_ENST00000567169.1_Silent_p.F114F|ZNF423_ENST00000535559.1_Silent_p.F114F|ZNF423_ENST00000262383.2_Silent_p.F231F|ZNF423_ENST00000562520.1_Silent_p.F171F|ZNF423_ENST00000563137.2_Silent_p.F171F|ZNF423_ENST00000562871.1_Silent_p.F171F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	231					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGTGGAGGAGAAGCCGCGCT	0.582000													12	38					0	0	0.001368	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506573	27506573	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:27506573C>A	ENST00000356183.4	-	15	2606	c.2591G>T	c.(2590-2592)gGt>gTt	p.G864V	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G864V	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	864						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGGTGACACCATCTTGGCT	0.642000													18	49					2.5808e-16	3.723e-16	0.006122	1	0
GRM8	2918	broad.mit.edu	37	7	126746640	126746640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:126746640G>T	ENST00000339582.2	-	3	1445	c.637C>A	c.(637-639)Ctg>Atg	p.L213M	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.L213M|GRM8_ENST00000405249.1_Missense_Mutation_p.L213M|GRM8_ENST00000444921.2_Missense_Mutation_p.L213M			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	213					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTCCATCCCAGTGCTGTCACG	0.522000										HNSCC(24;0.065)			16	38					2.35188e-11	3.23855e-11	0.006122	1	0
MARCH1	55016	broad.mit.edu	37	4	164534585	164534585	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:164534585G>C	ENST00000339875.5	-	1	101	c.72C>G	c.(70-72)taC>taG	p.Y24*	MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTTGGTTAAGGTAATACATGG	0.403000													8	14					0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51900665	51900665	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:51900665C>G	ENST00000268919.4	+	1	427	c.271C>G	c.(271-273)Ccg>Gcg	p.P91A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	91					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACACCCCATGCCGCCCCCGCC	0.577000													79	92					0	0	0.003610	0	0
TMEM220	388335	broad.mit.edu	37	17	10628394	10628394	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:10628394G>A	ENST00000341871.3	-	4	685	c.221C>T	c.(220-222)gCt>gTt	p.A74V	TMEM220_ENST00000578345.1_Missense_Mutation_p.A64V|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.A64V	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	74						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CAAGCCAACAGCCCACACCGT	0.448000													27	50					0	0	0.005443	0	0
ZNF99	7652	broad.mit.edu	37	19	22952127	22952127	+	Splice_Site	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:22952127C>A	ENST00000397104.3	-	2	66		c.e2-1		ZNF99_ENST00000596209.1_Splice_Site					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCAACGATCCCTGAAAAACAC	0.393000													13	22					0.00010058	0.000112606	0.001368	1	0
RTN3	10313	broad.mit.edu	37	11	63486197	63486197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:63486197G>C	ENST00000377819.5	+	3	377	c.223G>C	c.(223-225)Gat>Cat	p.D75H	RTN3_ENST00000540798.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D56H	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	75					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTTTGCTCTGATGAGCCATC	0.373000													5	18					0	0	0.001984	0	0
WDR19	57728	broad.mit.edu	37	4	39245931	39245931	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:39245931C>A	ENST00000399820.3	+	22	2639	c.2485C>A	c.(2485-2487)Cga>Aga	p.R829R	WDR19_ENST00000288634.7_Silent_p.R669R	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	829					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGACATACGTCGAGGGGTTAA	0.463000													22	60					6.44725e-10	8.47024e-10	0.002299	1	0
CHAT	1103	broad.mit.edu	37	10	50857604	50857604	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:50857604C>G	ENST00000395562.2	+	11	1656	c.1187C>G	c.(1186-1188)cCc>cGc	p.P396R	CHAT_ENST00000395559.2_Missense_Mutation_p.P360R|CHAT_ENST00000337653.2_Missense_Mutation_p.P478R|CHAT_ENST00000339797.1_Missense_Mutation_p.P360R|CHAT_ENST00000351556.3_Missense_Mutation_p.P360R|CHAT_ENST00000455728.2_Missense_Mutation_p.P360R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	478				V -> L (in Ref. 6; AAB23557).	neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGCGAGCTCCCCGCCCCCCGG	0.617000													16	61					0	0	0.003163	0	0
ZNF827	152485	broad.mit.edu	37	4	146823717	146823717	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:146823717C>G	ENST00000508784.1	-	2	921	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.E232Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATGGTCTCCTCAGTCCTGGTG	0.502000													13	25					0	0	0.001368	0	0
SYTL4	94121	broad.mit.edu	37	X	99931094	99931094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:99931094G>T	ENST00000455616.1	-	18	2293	c.1947C>A	c.(1945-1947)taC>taA	p.Y649*	SYTL4_ENST00000454200.2_Nonsense_Mutation_p.Y651*|SYTL4_ENST00000263033.5_Nonsense_Mutation_p.Y649*|SYTL4_ENST00000276141.6_Nonsense_Mutation_p.Y649*|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000372989.1_Nonsense_Mutation_p.Y649*			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	649					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGACCCTGGGTACTGTCGCA	0.562000													17	10					1.96292e-10	2.61892e-10	0.010504	1	0
TRAPPC12	51112	broad.mit.edu	37	2	3391920	3391920	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:3391920G>T	ENST00000324266.5	+	2	721	c.526G>T	c.(526-528)Gag>Tag	p.E176*	TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.E176*	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	176							binding										GGACGGCTTCGAGCCGCAGAT	0.736000													4	12					1.23904e-05	1.41801e-05	0.000602	1	0
ANKFN1	162282	broad.mit.edu	37	17	54558038	54558038	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:54558038G>C	ENST00000566473.2	+	16	1959	c.1959G>C	c.(1957-1959)tgG>tgC	p.W653C	ANKFN1_ENST00000318698.2_Missense_Mutation_p.W653C			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	653										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAGAGGAATGGGAATGGATCC	0.408000													25	50					0	0	0.003330	0	0
WDR17	116966	broad.mit.edu	37	4	177067163	177067163	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:177067163G>T	ENST00000393643.2	+	12	1799	c.1547G>T	c.(1546-1548)gGc>gTc	p.G516V	WDR17_ENST00000280190.4_Missense_Mutation_p.G540V|WDR17_ENST00000507824.2_Missense_Mutation_p.G523V|WDR17_ENST00000508596.1_Missense_Mutation_p.G516V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	540										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAGCCACTGGCTGTGAAGAC	0.323000													12	16					7.03913e-09	8.99541e-09	0.001368	1	0
SUSD4	55061	broad.mit.edu	37	1	223408349	223408349	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:223408349G>A	ENST00000344029.6	-	6	963	c.818C>T	c.(817-819)tCt>tTt	p.S273F	SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000343846.3_Intron	NM_001037175.2	NP_001032252.1	Q5VX71	SUSD4_HUMAN	sushi domain containing 4	0	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGGGTGGGAGAGGACTTTAA	0.443000													15	52					0	0	0.004990	0	0
ATP2A3	489	broad.mit.edu	37	17	3845945	3845945	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:3845945G>A	ENST00000309890.7	-	12	1650	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.P500P|ATP2A3_ENST00000397041.3_Silent_p.P500P|ATP2A3_ENST00000397043.3_Silent_p.P500P|ATP2A3_ENST00000397035.3_Silent_p.P500P|ATP2A3_ENST00000352011.3_Silent_p.P500P	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	500					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GAGGGCGGGTGGGCGTGCAGT	0.652000													15	59					0	0	0.004990	0	0
MYH15	22989	broad.mit.edu	37	3	108102458	108102458	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:108102458C>G	ENST00000273353.3	-	41	5866	c.5810G>C	c.(5809-5811)aGa>aCa	p.R1937T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1937						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCAAACTCTCTTGCTTTAAT	0.373000													28	75					0	0	0.005443	0	0
MYO5B	4645	broad.mit.edu	37	18	47518664	47518664	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:47518664G>A	ENST00000285039.7	-	6	1049	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	250	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V250V(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)		TCACCTGGAAGACCACTCTGG	0.502000													38	137					0	0	0.005524	0	0
ALX1	8092	broad.mit.edu	37	12	85677392	85677392	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:85677392C>G	ENST00000316824.3	+	2	424	c.269C>G	c.(268-270)aCc>aGc	p.T90S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	90					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCCCTTCACACCGAACTGAAT	0.448000													11	44					0	0	0.010729	0	0
INHBC	3626	broad.mit.edu	37	12	57843178	57843178	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:57843178C>A	ENST00000309668.2	+	2	559	c.432C>A	c.(430-432)acC>acA	p.T144T	INHBC_ENST00000550133.1_Silent_p.T144T	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	144					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTTCCAATACCACTTGGACCT	0.522000													50	135					1.66251e-12	2.30779e-12	0.003610	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222390	140222390	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:140222390T>A	ENST00000531613.1	+	1	1484	c.1484T>A	c.(1483-1485)gTg>gAg	p.V495E	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V495E|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCGCTTGTGGAGCGGCGG	0.657000													25	56					0	0	0.004289	0	0
DOCK1	1793	broad.mit.edu	37	10	129046299	129046299	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:129046299A>G	ENST00000280333.6	+	28	2921	c.2812A>G	c.(2812-2814)Att>Gtt	p.I938V	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	938					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGACAGCTATTTTACGACA	0.413000													7	35					0	0	0.001984	0	0
TRANK1	9881	broad.mit.edu	37	3	36873498	36873498	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:36873498G>C	ENST00000301807.6	-	21	7691	c.5794C>G	c.(5794-5796)Ctc>Gtc	p.L1932V	TRANK1_ENST00000429976.2_Missense_Mutation_p.L2482V|TRANK1_ENST00000428977.2_Missense_Mutation_p.L1932V	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2482					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTAGGAGAGATGGAACCGG	0.488000													33	51					0	0	0.010818	0	0
GSDMA	284110	broad.mit.edu	37	17	38122058	38122058	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:38122058C>T	ENST00000301659.4	+	2	236	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	40					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGCCTGGTGCTGAGGAAGAG	0.622000													8	4					0	0	0.006214	0	0
SYNE2	23224	broad.mit.edu	37	14	64469988	64469988	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:64469988T>A	ENST00000358025.3	+	30	4567	c.4337T>A	c.(4336-4338)gTg>gAg	p.V1446E	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.V1446E|SYNE2_ENST00000344113.4_Missense_Mutation_p.V1446E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1446					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCAAGATGTGCAGAGTCAA	0.378000													10	40					0	0	0.006214	0	0
ZNF800	168850	broad.mit.edu	37	7	127017249	127017249	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:127017249T>C	ENST00000393313.1	-	4	883	c.292A>G	c.(292-294)Atg>Gtg	p.M98V	ZNF800_ENST00000393312.1_Missense_Mutation_p.M98V|ZNF800_ENST00000265827.3_Missense_Mutation_p.M98V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTGTCATCCATCTGGAGACTT	0.323000													10	46					0	0	0.010729	0	0
DUSP11	8446	broad.mit.edu	37	2	73993544	73993544	+	Splice_Site	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:73993544C>T	ENST00000272444.3	-	8	977		c.e8+1		DUSP11_ENST00000480948.1_Intron	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)						RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GAGAGAGGTACCTGACTGATT	0.373000													18	50					0	0	0.008871	0	0
CEACAM19	56971	broad.mit.edu	37	19	45179599	45179599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:45179599G>T	ENST00000358777.4	+	3	961	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.A161S|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	161						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GATCCTGGCGGCCACCATCAT	0.577000													25	32					2.39556e-15	3.40805e-15	0.002780	1	0
ANKRD24	170961	broad.mit.edu	37	19	4207605	4207605	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr19:4207605G>T	ENST00000600132.1	+	9	920		c.e9+1		ANKRD24_ENST00000262970.5_Splice_Site|ANKRD24_ENST00000318934.4_Splice_Site	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24											endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TGCAAGGCAGGTGAGCATCTC	0.572000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	30					5.03518e-11	6.89659e-11	0.007413	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20495380	20495380	+	RNA	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:20495380G>A	ENST00000555186.1	+	0	583					NR_038836.1																						AAGACATGAAGAGAAAGTTTC	0.413000													10	84					0	0	0.010729	0	0
SMYD1	150572	broad.mit.edu	37	2	88383986	88383986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:88383986G>T	ENST00000419482.2	+	2	374	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	SMYD1_ENST00000438570.1_Missense_Mutation_p.G97W|SMYD1_ENST00000444564.2_Missense_Mutation_p.G97W|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAAGAGATATGGGAAGGTGCC	0.527000													12	38					9.31168e-06	1.07282e-05	0.001855	1	0
CEP41	95681	broad.mit.edu	37	7	130044478	130044478	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:130044478C>T	ENST00000223208.4	-	6	619	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CEP41_ENST00000541543.1_Missense_Mutation_p.E101K|CEP41_ENST00000343969.5_Missense_Mutation_p.E117K	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	117					G2/M transition of mitotic cell cycle	centrosome|cytosol											GGCGACTGCTCACCTGGATTT	0.468000													16	53					0	0	0.004990	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141443	239141443	+	RNA	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:239141443G>T	ENST00000456601.1	+	0	906																											AACATGCAGAGGGAGCCAAAC	0.537000													12	31					2.80697e-09	3.63214e-09	0.010729	1	0
SEPP1	6414	broad.mit.edu	37	5	42801082	42801082	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:42801082C>A	ENST00000514985.1	-	5	1142	c.886G>T	c.(886-888)Gct>Tct	p.A296S	SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.A296S|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.A296S|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	296					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCCTAGGAGCCAACTCTGAA	0.393000													23	53					9.04412e-07	1.07569e-06	0.004656	1	0
HTR1E	3354	broad.mit.edu	37	6	87725386	87725386	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:87725386C>T	ENST00000305344.4	+	2	1037	c.334C>T	c.(334-336)Cac>Tac	p.H112Y	HTR1E_ENST00000369584.1_Missense_Mutation_p.H112Y	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	112					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTCCATCCTCCACCTCTGTGT	0.552000													19	59					0	0	0.008871	0	0
TLR4	7099	broad.mit.edu	37	9	120476587	120476587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:120476587C>A	ENST00000355622.6	+	3	2282	c.2181C>A	c.(2179-2181)ttC>ttA	p.F727L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.F687L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	727	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATGAAGGTTTCCATAAAAGCC	0.473000													15	34					0.000422831	0.000464303	0.004007	1	0
UBR1	197131	broad.mit.edu	37	15	43307940	43307940	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:43307940T>A	ENST00000290650.4	-	29	3233	c.3155A>T	c.(3154-3156)tAt>tTt	p.Y1052F	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1052					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATTGTCATACATGAGTTT	0.358000													34	91					0	0	0.002836	0	0
COL25A1	84570	broad.mit.edu	37	4	110223093	110223093	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:110223093G>C	ENST00000399132.1	-	2	613	c.83C>G	c.(82-84)gCc>gGc	p.A28G	COL25A1_ENST00000399126.1_Missense_Mutation_p.A28G|COL25A1_ENST00000399127.1_Missense_Mutation_p.A28G	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	28				A -> S (in Ref. 1; AAK35008 and 2; AAK35009).		collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CATGGTCCGGGCACAATGCTG	0.677000													14	54					0	0	0.004007	0	0
SLC12A3	6559	broad.mit.edu	37	16	56917970	56917970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:56917970C>A	ENST00000438926.2	+	14	1708	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	SLC12A3_ENST00000566786.1_Missense_Mutation_p.P559H|SLC12A3_ENST00000262502.5_Missense_Mutation_p.P559H|SLC12A3_ENST00000563236.1_Missense_Mutation_p.P560H	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	560			P -> H (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGTGGAGACCTTCATTCCAA	0.602000													10	47					0.000442599	0.000482921	0.006214	1	0
CLEC16A	23274	broad.mit.edu	37	16	11097028	11097028	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:11097028G>C	ENST00000409790.1	+	11	1399	c.1169G>C	c.(1168-1170)aGa>aCa	p.R390T	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R388T	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	390										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCAAAAGAGACCCAACTAC	0.542000													10	31					0	0	0.006214	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	37					0	0	0.009096	0	0
TEX15	56154	broad.mit.edu	37	8	30702722	30702722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:30702722A>T	ENST00000256246.2	-	1	3886	c.3812T>A	c.(3811-3813)tTa>tAa	p.L1271*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1271										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTGAATCTAAGACTGATAT	0.348000													18	25					0	0	0.007413	0	0
POLG	5428	broad.mit.edu	37	15	89867404	89867404	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:89867404C>G	ENST00000268124.5	-	11	2337	c.2004G>C	c.(2002-2004)ctG>ctC	p.L668L	POLG_ENST00000442287.2_Silent_p.L668L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	668					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTGGGGCATCAGCTGCTGCT	0.597000								DNA polymerases (catalytic subunits)					20	54					0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124281263	124281263	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:124281263C>T	ENST00000409039.3	+	12	1718	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	565	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTATAAGAATCACCCTCCAGT	0.393000													21	32					0	0	0.012319	0	0
IQCJ	654502	broad.mit.edu	37	3	158983083	158983083	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:158983083G>A	ENST00000482126.1	+	4	395	c.290G>A	c.(289-291)gGa>gAa	p.G97E	IQCJ_ENST00000451172.1_Missense_Mutation_p.G124E|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ-SCHIP1_ENST00000476809.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J									p.G124V(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TTGCCTGGTGGAAGGAAGGTG	0.498000													35	81					0	0	0.002836	0	0
MAP2	4133	broad.mit.edu	37	2	210574780	210574780	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:210574780C>A	ENST00000360351.4	+	12	5381	c.4875C>A	c.(4873-4875)acC>acA	p.T1625T	MAP2_ENST00000361559.4_Silent_p.T269T|MAP2_ENST00000199940.6_Silent_p.T326T|MAP2_ENST00000392194.1_Silent_p.T269T|MAP2_ENST00000447185.1_Silent_p.T1621T|MAP2_ENST00000475600.1_3'UTR	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1625					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCCCAGGACCCCTCACACAC	0.577000													26	82					2.79863e-10	3.70513e-10	0.004656	1	0
PDE11A	50940	broad.mit.edu	37	2	178634101	178634101	+	Splice_Site	SNP	C	C	A	rs147662486		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:178634101C>A	ENST00000286063.5	-	10	2055	c.1737_splice	c.e10-1	p.V580_splice	PDE11A_ENST00000389683.3_Splice_Site_p.V136_splice|PDE11A_ENST00000358450.4_Splice_Site_p.V330_splice|PDE11A_ENST00000409504.1_Splice_Site_p.V222_splice|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Splice_Site_p.V222_splice	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	580					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TATGATAGCACCTGATTCAGA	0.313000									Primary Pigmented Nodular Adrenocortical Disease, Familial				8	25					0.00307968	0.00328372	0.003080	1	0
TBX15	6913	broad.mit.edu	37	1	119427912	119427912	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:119427912C>G	ENST00000369429.3	-	8	1261	c.1252G>C	c.(1252-1254)Gac>Cac	p.D418H	TBX15_ENST00000207157.3_Missense_Mutation_p.D312H			Q96SF7	TBX15_HUMAN	T-box 15	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TAGCCACTGTCACTCAGCCCT	0.547000													26	32					0	0	0.003954	0	0
OR52E4	390081	broad.mit.edu	37	11	5906110	5906110	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:5906110C>A	ENST00000316987.2	+	1	610	c.588C>A	c.(586-588)atC>atA	p.I196I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATTAAGATCAACATAATCT	0.453000													28	63					7.38237e-10	9.6741e-10	0.006320	1	0
ANK2	287	broad.mit.edu	37	4	114195680	114195680	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:114195680A>T	ENST00000357077.4	+	15	1611	c.1558A>T	c.(1558-1560)Atg>Ttg	p.M520L	ANK2_ENST00000394537.3_Missense_Mutation_p.M520L|ANK2_ENST00000506722.1_Missense_Mutation_p.M499L|ANK2_ENST00000264366.6_Missense_Mutation_p.M520L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	520					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTACAACATATGGCTCATCC	0.507000													25	64					0	0	0.005443	0	0
BCL2	596	broad.mit.edu	37	18	60985567	60985567	+	Silent	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:60985567G>A	ENST00000398117.1	-	1	1794	c.333C>T	c.(331-333)gaC>gaT	p.D111D	BCL2_ENST00000444484.1_Silent_p.D111D|BCL2_ENST00000589955.1_Silent_p.D111D|BCL2_ENST00000333681.4_Silent_p.D111D	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	111					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCTCGGCGAAGTCGCGGCGGT	0.731000			T	IGH@	"""NHL, CLL"""								22	67					0	0	0.002299	0	0
TPI1	7167	broad.mit.edu	37	12	6976815	6976815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:6976815C>G	ENST00000229270.4	+	1	533	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	TPI1_ENST00000396705.5_Missense_Mutation_p.L29V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	29					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATCGGCACTCTGAACGCGGC	0.706000													11	31					0	0	0.001368	0	0
NPNT	255743	broad.mit.edu	37	4	106859499	106859499	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:106859499G>A	ENST00000379987.2	+	5	643	c.427G>A	c.(427-429)Gat>Aat	p.D143N	NPNT_ENST00000506666.1_Missense_Mutation_p.D173N|NPNT_ENST00000427316.2_Missense_Mutation_p.D173N|NPNT_ENST00000514622.1_Missense_Mutation_p.D143N|NPNT_ENST00000305572.8_Missense_Mutation_p.D143N|NPNT_ENST00000453617.2_Missense_Mutation_p.D160N	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	143	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		GTATGGCTGTGATGTTGTTAA	0.498000													15	45					0	0	0.003163	0	0
PIK3R4	30849	broad.mit.edu	37	3	130403129	130403129	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:130403129G>C	ENST00000356763.3	-	16	4129	c.3572C>G	c.(3571-3573)tCa>tGa	p.S1191*	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1191					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGGGTGCATTGAGAGGCGTCT	0.478000													16	48					0	0	0.006122	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518936	113518936	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:113518936T>A	ENST00000284601.3	-	4	2279	c.2211A>T	c.(2209-2211)tcA>tcT	p.S737S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	737					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGTACTTTCTGATGTTGTCT	0.433000													36	88					0	0	0.002836	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37440988	37440988	+	Splice_Site	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:37440988A>G	ENST00000374660.1	+	12	1577	c.1477_splice	c.e12-1	p.D493_splice	ANKRD30A_ENST00000361713.1_Splice_Site_p.D493_splice|ANKRD30A_ENST00000602533.1_Splice_Site_p.D493_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTTTATAGATCCGATGTTC	0.289000													16	39					0	0	0.006122	0	0
CPZ	8532	broad.mit.edu	37	4	8613770	8613770	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:8613770C>G	ENST00000429646.2	+	6	2861	c.68C>G	c.(67-69)tCc>tGc	p.S23C	CPZ_ENST00000382480.2_Missense_Mutation_p.S278C|CPZ_ENST00000315782.6_Missense_Mutation_p.S404C|CPZ_ENST00000360986.4_Missense_Mutation_p.S415C			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	415					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGCTGCTGTCCAGAGCCTAC	0.572000													11	28					0	0	0.008291	0	0
NUPR1	26471	broad.mit.edu	37	16	28549480	28549480	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:28549480T>G	ENST00000395641.2	-	2	263	c.163A>C	c.(163-165)Aca>Cca	p.T55P	NUPR1_ENST00000324873.6_Intron			O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	38					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						CCACCTCCTGTAACCAAGGCA	0.612000													32	106					0	0	0.003271	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789304	117789304	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:117789304G>C	ENST00000528626.1	-	2	344	c.271C>G	c.(271-273)Ccg>Gcg	p.P91A	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P91A|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P91A|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P91A|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P91A	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCAGAGCCGGAGATGCCCGG	0.637000													12	28					0	0	0.001368	0	0
POLQ	10721	broad.mit.edu	37	3	121228900	121228900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:121228900C>A	ENST00000264233.5	-	11	1930	c.1802G>T	c.(1801-1803)aGt>aTt	p.S601I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	601					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGTTCCATCACTGGCTTCTGT	0.408000								DNA polymerases (catalytic subunits)					23	60					1.10923e-09	1.44621e-09	0.002780	1	0
WDR96	80217	broad.mit.edu	37	10	105903276	105903276	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:105903276C>A	ENST00000357060.3	-	32	4181	c.4066G>T	c.(4066-4068)Gac>Tac	p.D1356Y	WDR96_ENST00000428666.1_Missense_Mutation_p.D1328Y	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	1356										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTAATATTGTCCAACTCATCC	0.428000													9	22					1.76689e-08	2.22482e-08	0.006214	1	0
RSPRY1	89970	broad.mit.edu	37	16	57254731	57254731	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:57254731A>G	ENST00000537866.1	+	9	1862	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.Y330C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	330	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GTCAGCGAGTACCTGAAGATC	0.428000													5	33					0	0	0.001168	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726839	32726839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:32726839G>T	ENST00000435145.2	-	3	495	c.434C>A	c.(433-435)tCg>tAg	p.S145*	HLA-DQB2_ENST00000411527.1_Nonsense_Mutation_p.S145*|HLA-DQB2_ENST00000437316.2_Nonsense_Mutation_p.S145*			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	145					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ATCTGTCACCGAGCAGACCAG	0.547000													14	74					1.5842e-08	2.01448e-08	0.001855	1	0
FAM57B	83723	broad.mit.edu	37	16	30038023	30038023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:30038023G>T	ENST00000380495.4	-	3	1082	c.351C>A	c.(349-351)agC>agA	p.S117R	FAM57B_ENST00000279389.4_Missense_Mutation_p.S67R|FAM57B_ENST00000564806.1_Missense_Mutation_p.S67R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	117	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGCCCACGTGCTGCCCGGGG	0.612000													14	23					4.36969e-10	5.75547e-10	0.001855	1	0
PRKD1	5587	broad.mit.edu	37	14	30100163	30100163	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:30100163C>A	ENST00000331968.5	-	10	1686	c.1457G>T	c.(1456-1458)gGg>gTg	p.G486V	PRKD1_ENST00000415220.2_Missense_Mutation_p.G494V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	486	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGGATTGGCCCCATTAGGAAT	0.358000													18	52					1.67942e-08	2.12506e-08	0.006122	1	0
SLC1A3	6507	broad.mit.edu	37	5	36680629	36680629	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:36680629T>A	ENST00000265113.4	+	8	1703	c.1227T>A	c.(1225-1227)gcT>gcA	p.A409A	SLC1A3_ENST00000381918.3_Silent_p.A409A|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	409					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AGGCTTTGGCTGCCATTTTCA	0.448000													5	69					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203340	140203340	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr5:140203340C>T	ENST00000529859.1	+	1	1980	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A	PCDHA5_ENST00000378126.3_Silent_p.A660A|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.A660A	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGACAGCCACAGCCACAG	0.682000													27	40					0	0	0.005443	0	0
TNIP3	79931	broad.mit.edu	37	4	122062978	122062978	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:122062978T>G	ENST00000454328.1	-	11	1105	c.878A>C	c.(877-879)gAg>gCg	p.E293A	TNIP3_ENST00000507879.1_Missense_Mutation_p.E363A|TNIP3_ENST00000057513.3_Missense_Mutation_p.E293A|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000509841.1_Missense_Mutation_p.E370A			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	293										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TACTGGGTGCTCCCGTTGCTT	0.448000													3	34					0	0	0.004672	0	0
COL2A1	1280	broad.mit.edu	37	12	48379325	48379325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:48379325C>T	ENST00000380518.3	-	26	1890	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G507S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	576	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACAGAAGGGCCAACTTTGCCT	0.602000													42	105					0	0	0.003610	0	0
UBE2D1	7321	broad.mit.edu	37	10	60123428	60123428	+	Silent	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:60123428T>C	ENST00000373910.4	+	4	407	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CGACAGATTATCCTTTTAAAC	0.328000													10	18					0	0	0.002450	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462																											ACAACTGGGCCAAGGGACGCT	0.577000													3	8					0	0	0.009096	0	0
BTN2A2	10385	broad.mit.edu	37	6	26385287	26385287	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:26385287G>T	ENST00000356709.4	+	3	250	c.139G>T	c.(139-141)Gtg>Ttg	p.V47L	BTN2A2_ENST00000416795.2_Missense_Mutation_p.V47L|BTN2A2_ENST00000469230.1_Missense_Mutation_p.V47L|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V47L|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	47	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CCTGGCCATGGTGGGAGAAAA	0.527000													20	49					1.2644e-06	1.50039e-06	0.010504	1	0
PHF8	23133	broad.mit.edu	37	X	54011568	54011568	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:54011568G>C	ENST00000338154.6	-	18	2726	c.2222C>G	c.(2221-2223)tCt>tGt	p.S741C	PHF8_ENST00000322659.8_Missense_Mutation_p.S724C|PHF8_ENST00000357988.5_Missense_Mutation_p.S777C|PHF8_ENST00000338946.6_Missense_Mutation_p.S640C	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	777					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGCAGGCTAGAGGTAGCCGG	0.642000													9	3					0	0	0.004482	0	0
GSDMA	284110	broad.mit.edu	37	17	38122578	38122578	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:38122578G>A	ENST00000301659.4	+	3	398	c.280G>A	c.(280-282)Gat>Aat	p.D94N		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	94					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GGGAGATGTGGATGTACCAAA	0.562000													25	62					0	0	0.004656	0	0
UCHL1	7345	broad.mit.edu	37	4	41262814	41262814	+	Splice_Site	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:41262814G>T	ENST00000284440.4	+	4	469	c.325_splice	c.e4+1	p.E109_splice	UCHL1_ENST00000504818.1_3'UTR|UCHL1_ENST00000512788.1_Splice_Site_p.E109_splice|UCHL1_ENST00000503431.1_Splice_Site_p.E109_splice|UCHL1_ENST00000508768.1_Splice_Site_p.E109_splice	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	109					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						ACTGGGATTTGGTAGGTGTGG	0.453000													22	85					3.01185e-09	3.88747e-09	0.003954	1	0
IGLL1	3543	broad.mit.edu	37	22	23915743	23915743	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr22:23915743G>A	ENST00000249053.3	-	2	284	c.236C>T	c.(235-237)tCt>tTt	p.S79F	IGLL1_ENST00000330377.2_Silent_p.L118L	NM_152855.2	NP_690594.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	0					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GGCGGGAACAGAGTGACCGAG	0.592000													15	49					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	2855595	2855595	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:2855595C>T	ENST00000520002.1	-	55	8873	c.8318G>A	c.(8317-8319)gGc>gAc	p.G2773D	CSMD1_ENST00000400186.3_Missense_Mutation_p.G2715D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2714D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2772D|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2715D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2773D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2773	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCGAGACACGCCCTGCAGCAA	0.567000													18	34					0	0	0.006122	0	0
CEBPE	1053	broad.mit.edu	37	14	23588250	23588250	+	Silent	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:23588250T>A	ENST00000206513.5	-	1	575	c.51A>T	c.(49-51)ccA>ccT	p.P17P		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGAACTCGAGTGGCTGCTGGC	0.692000													19	39					0	0	0.006122	0	0
TRPS1	7227	broad.mit.edu	37	8	116599318	116599318	+	Silent	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:116599318T>G	ENST00000395715.3	-	5	3187	c.2610A>C	c.(2608-2610)ccA>ccC	p.P870P	TRPS1_ENST00000519674.1_Silent_p.P857P|TRPS1_ENST00000519076.1_Silent_p.P611P|TRPS1_ENST00000520276.1_Silent_p.P861P|TRPS1_ENST00000220888.5_Silent_p.P857P	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	857					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTCCGCCAGCTGGCGCCCCCT	0.577000									Langer-Giedion syndrome				8	68					0	0	0.003080	0	0
PAQR3	152559	broad.mit.edu	37	4	79860372	79860372	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:79860372G>C	ENST00000512733.1	-	1	220	c.7C>G	c.(7-9)Cag>Gag	p.Q3E	PAQR3_ENST00000295462.3_Missense_Mutation_p.Q3E|PAQR3_ENST00000380645.4_Missense_Mutation_p.Q3E	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	3						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						AGCAGCTTCTGATGCATCGTT	0.716000													14	46					0	0	0.001855	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819029	159819029	+	RNA	SNP	A	A	G	rs111766443	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:159819029A>G	ENST00000497452.1	-	0	517																											CAAGAAGTAGAACAGACACCC	0.433000													3	68					0	0	0.004672	0	0
C11orf85	283129	broad.mit.edu	37	11	64707202	64707202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:64707202G>T	ENST00000301896.5	-	10	657	c.584C>A	c.(583-585)tCc>tAc	p.S195Y	C11orf85_ENST00000530444.1_Silent_p.V138V|C11orf85_ENST00000432175.1_Missense_Mutation_p.S195Y|C11orf85_ENST00000536065.1_Silent_p.V110V	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	195										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GCAGGGGTGGGACAATTCGCC	0.532000													16	35					8.00594e-06	9.24453e-06	0.007413	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789488	34789488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:34789488C>A	ENST00000192788.5	+	2	274	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q35K	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	35										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGGGAGGGTCAGCTGACCAA	0.483000													17	37					4.14922e-12	5.74421e-12	0.004007	1	0
TCEB3	6924	broad.mit.edu	37	1	24078002	24078002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:24078002G>T	ENST00000418390.2	+	4	1256	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	329					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAAGAGAAGGACAGAGAGGG	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	50					2.27111e-07	2.73276e-07	0.001368	1	0
IRS1	3667	broad.mit.edu	37	2	227661394	227661394	+	Silent	SNP	G	G	A	rs138975702	by1000genomes	TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:227661394G>A	ENST00000305123.4	-	1	3081	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	687					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AAGGGACGGCGTtgctgctgc	0.622000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	54					0	0	0.007413	0	0
DDX24	57062	broad.mit.edu	37	14	94545588	94545588	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:94545588C>T	ENST00000330836.5	-	2	632	c.501G>A	c.(499-501)caG>caA	p.Q167Q	DDX24_ENST00000555054.1_Silent_p.Q124Q|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	167					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CAGCAGTGCTCTGAGAAGGCT	0.468000													19	106					0	0	0.010504	0	0
SYNE1	23345	broad.mit.edu	37	6	152501415	152501415	+	Silent	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:152501415C>G	ENST00000367255.5	-	129	23917	c.23316G>C	c.(23314-23316)cgG>cgC	p.R7772R	SYNE1_ENST00000341594.5_Silent_p.R7384R|SYNE1_ENST00000265368.4_Silent_p.R7772R|SYNE1_ENST00000423061.1_Silent_p.R7701R|SYNE1_ENST00000356820.4_Silent_p.R2296R|SYNE1_ENST00000448038.1_Silent_p.R7701R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7772					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTATTTGCTGCCGCCTTAAGG	0.393000										HNSCC(10;0.0054)			13	33					0	0	0.001368	0	0
PFKL	5211	broad.mit.edu	37	21	45732017	45732017	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:45732017C>G	ENST00000403390.1	+	5	408	c.408C>G	c.(406-408)tgC>tgG	p.C136W	PFKL_ENST00000349048.4_Missense_Mutation_p.C89W|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	89					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGCTCGCTGCAAGGCCTTTA	0.652000													6	6					0	0	0.004482	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38660067	38660067	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:38660067C>A	ENST00000494540.1	+	0	846					NR_003086.1																						AGTGCCACCACTGGCTTTGGA	0.418000													15	35					0.00316338	0.00336599	0.003163	1	0
USP7	7874	broad.mit.edu	37	16	9012974	9012974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:9012974C>A	ENST00000344836.4	-	6	832	c.634G>T	c.(634-636)Ggc>Tgc	p.G212C	USP7_ENST00000381886.4_Missense_Mutation_p.G196C|USP7_ENST00000535863.1_Missense_Mutation_p.G113C	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	212					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCGACGTAGCCTGTGTGCTTC	0.463000													25	68					9.57634e-11	1.30127e-10	0.003330	1	0
CFAP54	144535	broad.mit.edu	37	12	97102515	97102515	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:97102515G>C	ENST00000524981.3	+	15	2011	c.2011G>C	c.(2011-2013)Gtc>Ctc	p.V671L				Q6ZTY8	CL063_HUMAN		645										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATAAATTGTGTCCCAGAAAA	0.333000													16	39					0	0	0.006122	0	0
ARAP2	116984	broad.mit.edu	37	4	36118683	36118683	+	Splice_Site	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:36118683C>G	ENST00000303965.4	-	25	4527	c.4038_splice	c.e25+1	p.R1346_splice		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1346	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGAACTTACCCGAATTATAA	0.328000													8	20					0	0	0.008291	0	0
HFE2	148738	broad.mit.edu	37	1	145415334	145415334	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:145415334G>C	ENST00000336751.5	+	3	391	c.153G>C	c.(151-153)ctG>ctC	p.L51L	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	51					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGTCCACTCTGAGCCTTAGAG	0.592000													22	76					0	0	0.002299	0	0
EEF1D	1936	broad.mit.edu	37	8	144663466	144663466	+	Silent	SNP	G	G	A	rs2305493		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:144663466G>A	ENST00000532741.1	-	4	1698	c.1470C>T	c.(1468-1470)agC>agT	p.S490S	EEF1D_ENST00000423316.2_Silent_p.S440S|EEF1D_ENST00000528610.1_Silent_p.S50S|EEF1D_ENST00000524624.1_Silent_p.S50S|EEF1D_ENST00000531621.1_Silent_p.S50S|EEF1D_ENST00000317198.6_Silent_p.S74S|EEF1D_ENST00000529272.1_Silent_p.S74S|EEF1D_ENST00000442189.2_Silent_p.S440S|EEF1D_ENST00000419152.2_Silent_p.S74S|EEF1D_ENST00000395119.3_Silent_p.S74S|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Silent_p.S74S			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	74					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGTGGTCTCCGCTGGTGCCGC	0.697000													15	29					0	0	0.004990	0	0
CFHR1	3078	broad.mit.edu	37	1	196797209	196797209	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:196797209G>T	ENST00000320493.5	+	4	528	c.440G>T	c.(439-441)tGt>tTt	p.C147F	CFHR1_ENST00000367424.3_Intron|CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	147	Sushi 3.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACACTTCCTGTGTGAATCCG	0.378000													16	20					1.74485e-21	2.61981e-21	0.007413	1	0
OSBPL11	114885	broad.mit.edu	37	3	125297869	125297869	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:125297869C>G	ENST00000296220.5	-	4	713	c.424G>C	c.(424-426)Gag>Cag	p.E142Q		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	142	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGCTGTCGCTCTTTTGCATCT	0.303000													9	19					0	0	0.010729	0	0
OR6B1	135946	broad.mit.edu	37	7	143701229	143701229	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:143701229T>A	ENST00000408922.2	+	1	208	c.140T>A	c.(139-141)cTa>cAa	p.L47Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ATCATCATCCTATTGGTGCTG	0.507000													15	46					0	0	0.002450	0	0
TENM3	55714	broad.mit.edu	37	4	183694726	183694726	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:183694726C>G	ENST00000511685.1	+	23	5117	c.4994C>G	c.(4993-4995)tCa>tGa	p.S1665*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.S1665*|RP11-18D7.2_ENST00000513255.1_RNA					teneurin transmembrane protein 3																		GACATTGAGTCATCTAGCCGA	0.438000													43	44					0	0	0.008740	0	0
DDX50	79009	broad.mit.edu	37	10	70696766	70696766	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:70696766G>A	ENST00000373585.3	+	12	1777	c.1670G>A	c.(1669-1671)gGt>gAt	p.G557D	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	557						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GAAGAGAAAGGTGCAGTGGAT	0.438000													25	82					0	0	0.003954	0	0
KDM5C	8242	broad.mit.edu	37	X	53245268	53245268	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:53245268G>C	ENST00000452825.3	-	4	1100	c.568C>G	c.(568-570)Ctg>Gtg	p.L190V	KDM5C_ENST00000404049.3_Missense_Mutation_p.L256V|KDM5C_ENST00000375379.3_Missense_Mutation_p.L257V|KDM5C_ENST00000375383.3_Missense_Mutation_p.L216V|KDM5C_ENST00000375401.3_Missense_Mutation_p.L257V	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	257					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCTTCCGCAGAGTCTTGTCT	0.522000			"""N, F, S"""		clear cell renal carcinoma								26	23					0	0	0.003954	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639360	18639360	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:18639360A>C	ENST00000380548.4	+	7	1124	c.785A>C	c.(784-786)aAa>aCa	p.K262T	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K262T|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K262T|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K262T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	262						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTCCAGACAAAGAGATACTG	0.443000													11	14					0	0	0.008291	0	0
NRAP	4892	broad.mit.edu	37	10	115384682	115384682	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:115384682T>G	ENST00000369358.4	-	22	2520	c.2276A>C	c.(2275-2277)tAc>tCc	p.Y759S	NRAP_ENST00000359988.3_Missense_Mutation_p.Y751S|NRAP_ENST00000360478.3_Missense_Mutation_p.Y716S|NRAP_ENST00000369360.3_Missense_Mutation_p.Y724S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	751						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTGCCTTGTAGGCCACCTG	0.567000													30	70					0	0	0.008361	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951777	235951777	+	Silent	SNP	G	G	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:235951777G>C	ENST00000409212.1	+	4	2871	c.2364G>C	c.(2362-2364)cgG>cgC	p.R788R	SH3BP4_ENST00000344528.4_Silent_p.R788R|SH3BP4_ENST00000392011.2_Silent_p.R788R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	788					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTTTCTGCCGGGCAGAGCTGG	0.582000													12	43					0	0	0.001855	0	0
CNTN5	53942	broad.mit.edu	37	11	100061877	100061877	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:100061877G>A	ENST00000524871.1	+	14	1890	c.1600G>A	c.(1600-1602)Ggg>Agg	p.G534R	CNTN5_ENST00000528682.1_Missense_Mutation_p.G534R|CNTN5_ENST00000527185.1_Missense_Mutation_p.G534R|CNTN5_ENST00000418526.2_Missense_Mutation_p.G460R|CNTN5_ENST00000279463.3_Missense_Mutation_p.G534R	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	534	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G534W(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTTCCAGACGGGAGTCTACG	0.368000													8	23					0	0	0.004482	0	0
MTX2	10651	broad.mit.edu	37	2	177193077	177193077	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:177193077C>G	ENST00000392529.2	+	7	717	c.312C>G	c.(310-312)taC>taG	p.Y104*	MTX2_ENST00000443241.1_Nonsense_Mutation_p.Y58*|MTX2_ENST00000249442.6_Nonsense_Mutation_p.Y114*			O75431	MTX2_HUMAN	metaxin 2	114					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGAAAGCTTACATGGAATTAG	0.318000													31	108					0	0	0.002836	0	0
NRP1	8829	broad.mit.edu	37	10	33510716	33510716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:33510716G>A	ENST00000265371.4	-	9	1738	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	NRP1_ENST00000374816.3_Nonsense_Mutation_p.R405*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.R405*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.R405*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.R405*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.R405*|NRP1_ENST00000395995.1_Nonsense_Mutation_p.R405*			O14786	NRP1_HUMAN	neuropilin 1	405	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGCTTGATTCGGACAAATCGA	0.428000													32	70					0	0	0.010818	0	0
POLI	11201	broad.mit.edu	37	18	51818291	51818291	+	Silent	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:51818291C>A	ENST00000579534.1	+	9	1430	c.1287C>A	c.(1285-1287)acC>acA	p.T429T	POLI_ENST00000579434.1_Silent_p.T326T|POLI_ENST00000217800.5_Silent_p.T303T|POLI_ENST00000406285.3_Silent_p.T350T|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	429					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TTCACCTTACCCTTCTAAGTG	0.338000								DNA polymerases (catalytic subunits)					19	60					1.56452e-12	2.17765e-12	0.007413	1	0
CEND1	51286	broad.mit.edu	37	11	788546	788546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:788546G>T	ENST00000330106.4	-	2	206	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	11						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGGGCTTGGGGCTGCTGGCT	0.672000													59	78					1.12612e-26	1.71583e-26	0.003610	1	0
S100A7	6278	broad.mit.edu	37	1	153430296	153430296	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:153430296C>A	ENST00000368723.3	-	3	402	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	S100A7_ENST00000368722.1_Missense_Mutation_p.G98W	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	98					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			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)			TGGCTGCCCCCGGAACAGGGC	0.517000													12	58					2.27111e-07	2.73276e-07	0.001368	1	0
C9orf3	84909	broad.mit.edu	37	9	97535320	97535320	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr9:97535320C>G	ENST00000375315.2	+	2	834	c.834C>G	c.(832-834)aaC>aaG	p.N278K	C9orf3_ENST00000297979.5_Missense_Mutation_p.N278K|C9orf3_ENST00000277198.2_Missense_Mutation_p.N278K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	278					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CCATAAACAACAGGGCCCTTT	0.458000													27	61					0	0	0.007291	0	0
CD163	9332	broad.mit.edu	37	12	7651686	7651686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:7651686C>A	ENST00000359156.4	-	4	758	c.556G>T	c.(556-558)Gat>Tat	p.D186Y	CD163_ENST00000432237.2_Missense_Mutation_p.D186Y|CD163_ENST00000396620.3_Missense_Mutation_p.D186Y|CD163_ENST00000541972.1_Missense_Mutation_p.D174Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	186	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTGAAGTTATCATCACACACT	0.428000													60	180					2.01871e-26	3.06678e-26	0.003610	1	0
SYNE1	23345	broad.mit.edu	37	6	152698034	152698034	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr6:152698034G>A	ENST00000367255.5	-	57	9624	c.9023C>T	c.(9022-9024)gCt>gTt	p.A3008V	SYNE1_ENST00000341594.5_Missense_Mutation_p.A3047V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3008V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3015V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3015V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3008					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTTGCAAAGCATCCAGTAT	0.398000										HNSCC(10;0.0054)			7	31					0	0	0.001984	0	0
OR4K1	79544	broad.mit.edu	37	14	20404508	20404508	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:20404508G>T	ENST00000285600.4	+	1	742	c.683G>T	c.(682-684)aGg>aTg	p.R228M		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTCCGATGCAGGTCCTCCAGT	0.428000													19	50					5.3912e-06	6.26743e-06	0.006122	1	0
EGFR	1956	broad.mit.edu	37	7	55223531	55223531	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:55223531G>A	ENST00000275493.2	+	8	1075	c.898G>A	c.(898-900)Gtg>Atg	p.V300M	EGFR_ENST00000344576.2_Missense_Mutation_p.V300M|EGFR_ENST00000342916.3_Missense_Mutation_p.V300M|EGFR_ENST00000442591.1_Missense_Mutation_p.V300M|EGFR_ENST00000454757.2_Missense_Mutation_p.V247M|EGFR_ENST00000420316.2_Missense_Mutation_p.V300M|EGFR_ENST00000455089.1_Missense_Mutation_p.V255M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	300					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGGTAATTATGTGGTGACAGA	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			17	52					0	0	0.004990	0	0
NXPE4	54827	broad.mit.edu	37	11	114453234	114453234	+	Silent	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:114453234C>T	ENST00000375478.3	-	3	786	c.606G>A	c.(604-606)gtG>gtA	p.V202V	NXPE4_ENST00000424261.2_Intron	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		CAGTGAAGATCACCCTGTCAT	0.527000													6	59					0	0	0.001168	0	0
PROS1	5627	broad.mit.edu	37	3	93646163	93646163	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:93646163T>G	ENST00000394236.3	-	2	481	c.165A>C	c.(163-165)gaA>gaC	p.E55D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	55	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGCATTCTCTTTCAAGATTAC	0.408000													28	54					0	0	0.007291	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213140	56213140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:56213140C>A	ENST00000243045.5	+	3	384	c.189C>A	c.(187-189)ttC>ttA	p.F63L	RP11-762I7.5_ENST00000552719.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.F63L|ORMDL2_ENST00000552672.1_Missense_Mutation_p.F29L|ORMDL2_ENST00000550836.1_5'UTR	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	63					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						CGTATGTCTTCCTTCATACGG	0.478000													64	138					1.53716e-24	2.32834e-24	0.003610	1	0
COL24A1	255631	broad.mit.edu	37	1	86590553	86590553	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:86590553C>G	ENST00000370571.2	-	3	1832	c.1466G>C	c.(1465-1467)gGg>gCg	p.G489A	COL24A1_ENST00000436319.1_Missense_Mutation_p.G489A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	489	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCTTTTGGCCCTCTCAGATA	0.308000													5	15					0	0	0.001168	0	0
CHRDL1	91851	broad.mit.edu	37	X	110005943	110005943	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:110005943C>A	ENST00000218054.4	-	3	383	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	CHRDL1_ENST00000372045.1_Missense_Mutation_p.V57L|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V63L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V63L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V63L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V63L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.V63L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	57	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATGCAGTTCACGCAGTAAACC	0.478000													18	17					1.96292e-10	2.61892e-10	0.010504	1	0
TSPAN11	441631	broad.mit.edu	37	12	31132537	31132537	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr12:31132537C>A	ENST00000261177.9	+	5	447	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	TSPAN11_ENST00000546076.1_Missense_Mutation_p.L130M|TSPAN11_ENST00000535215.1_Missense_Mutation_p.L59M|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L120M	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	130						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAACCGGACTCTGGCTGAGAA	0.632000													15	51					1.3612e-06	1.60784e-06	0.003163	1	0
WNT9A	7483	broad.mit.edu	37	1	228111886	228111886	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:228111886C>T	ENST00000272164.5	-	3	578	c.568G>A	c.(568-570)Gat>Aat	p.D190N	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	190					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GCTCGCAGATCCTTGCTTGAC	0.612000													22	78					0	0	0.003954	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976323	89976323	+	RNA	SNP	C	C	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:89976323C>A	ENST00000474213.1	+	0	229																											CAGCAGAGGCCAGGCCAATCT	0.532000													30	89					3.38236e-24	5.10825e-24	0.006999	1	0
FAIM3	9214	broad.mit.edu	37	1	207085160	207085160	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:207085160T>C	ENST00000367091.3	-	4	768	c.625A>G	c.(625-627)Aca>Gca	p.T209A	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Missense_Mutation_p.T97A|FAIM3_ENST00000420007.2_Missense_Mutation_p.T209A	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	209					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTGAGGCTGTAGTGGATGGC	0.592000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	64					0	0	0.004007	0	0
SCAPER	49855	broad.mit.edu	37	15	77057679	77057679	+	Splice_Site	SNP	T	T	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr15:77057679T>A	ENST00000538941.2	-	13	1813	c.875_splice	c.e13+1	p.R292_splice	SCAPER_ENST00000563290.1_Splice_Site_p.R538_splice|SCAPER_ENST00000324767.7_Splice_Site_p.R538_splice	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	537						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATGCCAGACCTTTTACGAGAG	0.403000													11	30					0	0	0.008291	0	0
CES5A	221223	broad.mit.edu	37	16	55903594	55903594	+	Silent	SNP	G	G	T			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:55903594G>T	ENST00000521992.1	-	5	712	c.567C>A	c.(565-567)tcC>tcA	p.S189S	CES5A_ENST00000520435.1_Silent_p.S130S|CES5A_ENST00000518005.1_Silent_p.S54S|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000290567.9_Silent_p.S160S|CES5A_ENST00000319165.9_Silent_p.S160S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	160						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGCCAGGGCGGACCCATCAA	0.562000													6	12					5.9392e-07	7.09672e-07	0.001168	1	0
CEP350	9857	broad.mit.edu	37	1	179959740	179959740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:179959740delA	ENST00000367607.3	+	4	637	c.219delA	c.(217-219)cgfs	p.R73fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	73						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTGCTACTCGAAAAATAAGTA	0.343													2	4	---	---	---	---					
OR2T11	127077	broad.mit.edu	37	1	248790092	248790092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr1:248790092delC	ENST00000330803.2	-	1	399	c.338delG	c.(337-339)gcfs	p.G113fs		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCATGAGGCCCAGGAGGAA	0.512													23	94	---	---	---	---					
POLR1B	84172	broad.mit.edu	37	2	113305043	113305043	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr2:113305043delA	ENST00000263331.5	+	3	971	c.391delA	c.(391-393)agfs	p.K131fs	POLR1B_ENST00000409894.3_Frame_Shift_Del_p.K131fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.K169fs|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000417433.2_Frame_Shift_Del_p.K75fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	131					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGGAATCATTAAGCAGTTTCT	0.408													20	67	---	---	---	---					
SNX4	8723	broad.mit.edu	37	3	125179630	125179631	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:125179630_125179631insA	ENST00000251775.4	-	10	952_953	c.928_929insT	c.(928-930)tgcfs	p.C310fs	SNX4_ENST00000536067.1_Frame_Shift_Ins_p.C165fs	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	310					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCTTCTGCATAAAAAAGATAC	0.351													9	31	---	---	---	---					
EIF2A	83939	broad.mit.edu	37	3	150290247	150290248	+	In_Frame_Ins	INS	-	-	GCA			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr3:150290247_150290248insGCA	ENST00000460851.1	+	10	1423_1424	c.1314_1315insGCA	c.(1312-1317)gaaacc>gaGCAaacc	p.438_439ET>EQT	EIF2A_ENST00000273435.5_In_Frame_Ins_p.433_434ET>EQT|EIF2A_ENST00000487799.1_In_Frame_Ins_p.413_414ET>EQT|EIF2A_ENST00000383043.3_In_Frame_Ins_p.224_225ET>EQT|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_In_Frame_Ins_p.377_378ET>EQT|SERP1_ENST00000479209.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	438					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TACCCAATGAGGAACCTAAAGT	0.356													26	93	---	---	---	---					
ACOX3	8310	broad.mit.edu	37	4	8417700	8417700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:8417700delA	ENST00000356406.5	-	3	248	c.171delT	c.(169-171)aafs	p.N57fs	ACOX3_ENST00000503233.1_Frame_Shift_Del_p.N57fs|ACOX3_ENST00000413009.2_Frame_Shift_Del_p.N57fs	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	57					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAAGAGGGTCATTCTCAAGAG	0.478													13	39	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123301364	123301364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr4:123301364delC	ENST00000296513.2	+	3	325	c.140delC	c.(139-141)tcfs	p.S47fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.S47fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.S29fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	47					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACGGCCTGTCCAAGATGGCA	0.458													24	67	---	---	---	---					
DENND2A	27147	broad.mit.edu	37	7	140301609	140301609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr7:140301609delC	ENST00000275884.6	-	2	1006	c.589delG	c.(589-591)cafs	p.A197fs	DENND2A_ENST00000537639.1_Frame_Shift_Del_p.A197fs|DENND2A_ENST00000492720.1_Frame_Shift_Del_p.A197fs|DENND2A_ENST00000496613.1_Frame_Shift_Del_p.A197fs			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	197										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTGGACCCTGCCTCTGCCTTG	0.627													34	79	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37756816	37756816	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr8:37756816delG	ENST00000330843.4	-	1	156	c.144delC	c.(142-144)ggfs	p.G48fs	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Frame_Shift_Del_p.G48fs	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	48	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTTCTCCTTGCCCACCTGGA	0.731													13	66	---	---	---	---					
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724295	50724295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:50724295delT	ENST00000515869.1	-	6	2390	c.2270delA	c.(2269-2271)agfs	p.K757fs	PGBD3_ENST00000508005.2_Frame_Shift_Del_p.K289fs|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.K757fs|PGBD3_ENST00000374127.3_Frame_Shift_Del_p.K289fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.K757fs	NM_001277059.1	NP_001263988.1																					CCGAATGGGCTTTCCCCGAAT	0.408													15	26	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104600	102104601	+	RNA	INS	-	-	TT			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:102104600_102104601insTT	ENST00000429420.1	-	0	103																											AAAAATCACAAttttttttttt	0.401													2	4	---	---	---	---					
PSTK	118672	broad.mit.edu	37	10	124747013	124747013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr10:124747013delG	ENST00000368887.3	+	6	1481	c.1041delG	c.(1039-1041)acfs	p.T347fs	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	347							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		cattgagcacggggtgaggta	0.443													16	63	---	---	---	---					
GAL3ST3	89792	broad.mit.edu	37	11	65810462	65810463	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr11:65810462_65810463delGC	ENST00000312006.4	-	3	1092_1093	c.811_812delGC	c.(811-813)cfs	p.A272fs	GAL3ST3_ENST00000527878.1_Frame_Shift_Del_p.A272fs	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	272					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGAGCTGGCGGCGCGCGCGTTG	0.718													6	12	---	---	---	---					
NUPL1	9818	broad.mit.edu	37	13	25882070	25882071	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr13:25882070_25882071insGC	ENST00000463407.1	+	2	377_378	c.234_235insGC	c.(232-237)ctgaggfs	p.LR78fs	NUPL1_ENST00000381736.3_Frame_Shift_Ins_p.LR78fs|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Frame_Shift_Ins_p.LR78fs			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	78	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTCACTCTAGGAGGAACAAA	0.441													11	60	---	---	---	---					
SERPINA3	12	broad.mit.edu	37	14	95081023	95081023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr14:95081023delC	ENST00000553947.1	+	5	1208	c.320delC	c.(319-321)acfs	p.T107fs	SERPINA3_ENST00000467132.1_Frame_Shift_Del_p.T82fs|SERPINA3_ENST00000393080.4_Frame_Shift_Del_p.T82fs|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Frame_Shift_Del_p.T82fs			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	82					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGCATCTCCACCGCCTTGGCC	0.527													24	90	---	---	---	---					
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020522	33020522	+	RNA	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr16:33020522delC	ENST00000565407.2	+	0	27				RP11-19N8.2_ENST00000567619.1_RNA																							ACTGGGTTTTCCTTGTTGCTA	0.473													10	42	---	---	---	---					
CCDC57	284001	broad.mit.edu	37	17	80153228	80153228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr17:80153228delC	ENST00000392347.1	-	4	565	c.529delG	c.(529-531)agfs	p.E177fs	CCDC57_ENST00000389641.4_Frame_Shift_Del_p.E177fs|CCDC57_ENST00000392343.3_Frame_Shift_Del_p.E177fs	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GATTCAAACTCCAGCAGCAGT	0.542													7	7	---	---	---	---					
FBXO15	201456	broad.mit.edu	37	18	71740725	71740725	+	Frame_Shift_Del	DEL	T	T	-	rs144872166		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chr18:71740725delT	ENST00000269500.5	-	10	1611	c.1276delA	c.(1276-1278)tcfs	p.I426fs	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Frame_Shift_Del_p.I502fs	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	426										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAATGGTTGATTTTTGCGATA	0.398													25	119	---	---	---	---					
PHKA2	5256	broad.mit.edu	37	X	18917333	18917334	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	f2a1d5e2-fc0c-42f5-afed-a1eee7dc16d5	g.chrX:18917333_18917334insA	ENST00000379942.4	-	29	3733_3734	c.3068_3069insT	c.(3067-3069)gggfs	p.G1023fs		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1023					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGGCCTGGCCCACAGAAAAGAA	0.545													11	10	---	---	---	---					
CEP350	9857	broad.mit.edu	37	1	179959740	179959740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:179959740delA	ENST00000367607.3	+	4	637	c.219delA	c.(217-219)cgfs	p.R73fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	73						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTGCTACTCGAAAAATAAGTA	0.343													2	4	---	---	---	---					
OR2T11	127077	broad.mit.edu	37	1	248790092	248790092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr1:248790092delC	ENST00000330803.2	-	1	399	c.338delG	c.(337-339)gcfs	p.G113fs		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCATGAGGCCCAGGAGGAA	0.512													23	94	---	---	---	---					
POLR1B	84172	broad.mit.edu	37	2	113305043	113305043	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr2:113305043delA	ENST00000263331.5	+	3	971	c.391delA	c.(391-393)agfs	p.K131fs	POLR1B_ENST00000417433.2_Frame_Shift_Del_p.K75fs|POLR1B_ENST00000409894.3_Frame_Shift_Del_p.K131fs|POLR1B_ENST00000541869.1_Frame_Shift_Del_p.K169fs|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	131					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGGAATCATTAAGCAGTTTCT	0.408													20	67	---	---	---	---					
SNX4	8723	broad.mit.edu	37	3	125179630	125179631	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:125179630_125179631insA	ENST00000251775.4	-	10	952_953	c.928_929insT	c.(928-930)tgcfs	p.C310fs	SNX4_ENST00000536067.1_Frame_Shift_Ins_p.C165fs	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	310					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCTTCTGCATAAAAAAGATAC	0.351													9	31	---	---	---	---					
EIF2A	83939	broad.mit.edu	37	3	150290247	150290248	+	In_Frame_Ins	INS	-	-	GCA			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr3:150290247_150290248insGCA	ENST00000460851.1	+	10	1423_1424	c.1314_1315insGCA	c.(1312-1317)gaaacc>gaGCAaacc	p.438_439ET>EQT	SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_In_Frame_Ins_p.413_414ET>EQT|EIF2A_ENST00000406576.3_In_Frame_Ins_p.377_378ET>EQT|EIF2A_ENST00000383043.3_In_Frame_Ins_p.224_225ET>EQT|EIF2A_ENST00000273435.5_In_Frame_Ins_p.433_434ET>EQT			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	438					regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TACCCAATGAGGAACCTAAAGT	0.356													26	93	---	---	---	---					
ACOX3	8310	broad.mit.edu	37	4	8417700	8417700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:8417700delA	ENST00000356406.5	-	3	248	c.171delT	c.(169-171)aafs	p.N57fs	ACOX3_ENST00000503233.1_Frame_Shift_Del_p.N57fs|ACOX3_ENST00000413009.2_Frame_Shift_Del_p.N57fs	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	57					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAAGAGGGTCATTCTCAAGAG	0.478													13	39	---	---	---	---					
ADAD1	132612	broad.mit.edu	37	4	123301364	123301364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr4:123301364delC	ENST00000296513.2	+	3	325	c.140delC	c.(139-141)tcfs	p.S47fs	ADAD1_ENST00000388724.2_Frame_Shift_Del_p.S47fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.S29fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	47					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACGGCCTGTCCAAGATGGCA	0.458													24	67	---	---	---	---					
DENND2A	27147	broad.mit.edu	37	7	140301609	140301609	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr7:140301609delC	ENST00000275884.6	-	2	1006	c.589delG	c.(589-591)cafs	p.A197fs	DENND2A_ENST00000492720.1_Frame_Shift_Del_p.A197fs|DENND2A_ENST00000496613.1_Frame_Shift_Del_p.A197fs|DENND2A_ENST00000537639.1_Frame_Shift_Del_p.A197fs			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	197										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTGGACCCTGCCTCTGCCTTG	0.627													34	79	---	---	---	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37756816	37756816	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr8:37756816delG	ENST00000330843.4	-	1	156	c.144delC	c.(142-144)ggfs	p.G48fs	RAB11FIP1_ENST00000287263.4_Frame_Shift_Del_p.G48fs|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	48	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACTTCTCCTTGCCCACCTGGA	0.731													13	66	---	---	---	---					
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724295	50724295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:50724295delT	ENST00000515869.1	-	6	2390	c.2270delA	c.(2269-2271)agfs	p.K757fs	PGBD3_ENST00000374127.3_Frame_Shift_Del_p.K289fs|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000508005.2_Frame_Shift_Del_p.K289fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.K757fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.K757fs	NM_001277059.1	NP_001263988.1																					CCGAATGGGCTTTCCCCGAAT	0.408													15	26	---	---	---	---					
PSTK	118672	broad.mit.edu	37	10	124747013	124747013	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr10:124747013delG	ENST00000368887.3	+	6	1481	c.1041delG	c.(1039-1041)acfs	p.T347fs	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	347							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		cattgagcacggggtgaggta	0.443													16	63	---	---	---	---					
GAL3ST3	89792	broad.mit.edu	37	11	65810462	65810463	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr11:65810462_65810463delGC	ENST00000312006.4	-	3	1092_1093	c.811_812delGC	c.(811-813)cfs	p.A272fs	GAL3ST3_ENST00000527878.1_Frame_Shift_Del_p.A272fs	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	272					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CGAGCTGGCGGCGCGCGCGTTG	0.718													6	12	---	---	---	---					
NUPL1	9818	broad.mit.edu	37	13	25882070	25882071	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr13:25882070_25882071insGC	ENST00000463407.1	+	2	377_378	c.234_235insGC	c.(232-237)ctgaggfs	p.LR78fs	NUPL1_ENST00000381718.3_Frame_Shift_Ins_p.LR78fs|NUPL1_ENST00000381736.3_Frame_Shift_Ins_p.LR78fs|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	78	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTCACTCTAGGAGGAACAAA	0.441													11	60	---	---	---	---					
SERPINA3	12	broad.mit.edu	37	14	95081023	95081023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr14:95081023delC	ENST00000553947.1	+	5	1208	c.320delC	c.(319-321)acfs	p.T107fs	SERPINA3_ENST00000393078.3_Frame_Shift_Del_p.T82fs|SERPINA3_ENST00000393080.4_Frame_Shift_Del_p.T82fs|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Frame_Shift_Del_p.T82fs			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	82					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGCATCTCCACCGCCTTGGCC	0.527													24	90	---	---	---	---					
IGHV3OR16-8	388255	broad.mit.edu	37	16	33020522	33020522	+	RNA	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr16:33020522delC	ENST00000565407.2	+	0	27				RP11-19N8.2_ENST00000567619.1_RNA																							ACTGGGTTTTCCTTGTTGCTA	0.473													10	42	---	---	---	---					
CCDC57	284001	broad.mit.edu	37	17	80153228	80153228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr17:80153228delC	ENST00000389641.4	-	4	565	c.529delG	c.(529-531)agfs	p.E177fs	CCDC57_ENST00000392343.3_Frame_Shift_Del_p.E177fs|CCDC57_ENST00000392347.1_Frame_Shift_Del_p.E177fs			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	177										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GATTCAAACTCCAGCAGCAGT	0.542													7	7	---	---	---	---					
FBXO15	201456	broad.mit.edu	37	18	71740725	71740725	+	Frame_Shift_Del	DEL	T	T	-	rs144872166		TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr18:71740725delT	ENST00000269500.5	-	10	1611	c.1276delA	c.(1276-1278)tcfs	p.I426fs	FBXO15_ENST00000419743.2_Frame_Shift_Del_p.I502fs|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	426										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAATGGTTGATTTTTGCGATA	0.398													25	119	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									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)		GCAAAATATTAAACAAAGGATTCG	0.294													2	4	---	---	---	---					
PHKA2	5256	broad.mit.edu	37	X	18917333	18917334	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7570-01A-11D-2036-08	TCGA-55-7570-11A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d11ba541-725c-4e08-8572-8e4115f562f5	259ec504-24c8-4a6e-8a56-977989ac5724	g.chrX:18917333_18917334insA	ENST00000379942.4	-	29	3733_3734	c.3068_3069insT	c.(3067-3069)gggfs	p.G1023fs		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1023					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGGCCTGGCCCACAGAAAAGAA	0.545													11	10	---	---	---	---