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
BPI	671	broad.mit.edu	37	20	36948635	36948635	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:36948635C>A	ENST00000262865.4	+	7	816	c.727C>A	c.(727-729)Cct>Act	p.P243T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	243	Cleavage sites for elastase (Potential).				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P243T(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGGTGGCACCTCCAGCAAC	0.517000													6	40					0.000157383	0.000178201	0.038147	1	0
TCHHL1	126637	broad.mit.edu	37	1	152060548	152060548	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:152060548G>A	ENST00000368806.1	-	2	136	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	24							calcium ion binding	p.N24N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473000													5	173					0	0	0.014758	0	0
C1S	716	broad.mit.edu	37	12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:7177423C>T	ENST00000406697.1	+	15	2163	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_ENST00000402681.3_Missense_Mutation_p.P345L|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.P512L|C1S_ENST00000360817.5_Missense_Mutation_p.P512L			P09871	C1S_HUMAN	complement component 1, s subcomponent	512	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P512L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512000													3	28					0	0	0.004672	0	0
NAV2	89797	broad.mit.edu	37	11	20067055	20067055	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:20067055C>G	ENST00000396085.1	+	14	4102	c.3741C>G	c.(3739-3741)aaC>aaG	p.N1247K	NAV2_ENST00000396087.3_Missense_Mutation_p.N1270K|NAV2_ENST00000360655.4_Missense_Mutation_p.N1183K|NAV2_ENST00000540292.1_Missense_Mutation_p.N1201K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Missense_Mutation_p.N1199K|NAV2_ENST00000311043.8_Missense_Mutation_p.N333K|NAV2_ENST00000349880.4_Missense_Mutation_p.N1247K|NAV2_ENST00000533917.1_Missense_Mutation_p.N333K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1270						nucleus	ATP binding|helicase activity	p.N1270K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCTGGTCAACCAAACAGACA	0.547000													5	42					0	0	0.014758	0	0
P2RX1	5023	broad.mit.edu	37	17	3802231	3802231	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:3802231G>A	ENST00000225538.3	-	9	1237	c.963C>T	c.(961-963)ggC>ggT	p.G321G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	321					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.G321G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CACTCACCTTGCCGTCCACCA	0.537000													21	134					0	0	0.062417	0	0
FOXC1	2296	broad.mit.edu	37	6	1611205	1611205	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:1611205G>A	ENST00000380874.2	+	1	525	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	175					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.K175K(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GGCGCTTCAAGAAGAAGGACG	0.692000													6	25					0	0	0.021553	0	0
STX16	8675	broad.mit.edu	37	20	57242593	57242593	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:57242593A>G	ENST00000371141.4	+	3	916	c.192A>G	c.(190-192)ccA>ccG	p.P64P	STX16_ENST00000359617.4_Silent_p.P11P|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361770.5_Silent_p.P47P|STX16-NPEPL1_ENST00000530122.1_Silent_p.P64P|STX16_ENST00000358029.4_Silent_p.P60P|STX16_ENST00000355957.5_Silent_p.P47P|STX16_ENST00000371132.4_Silent_p.P43P|STX16_ENST00000361830.3_Silent_p.P64P	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	64					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	p.P43P(1)		breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GCTTAGATCCAGAAGCAGCGA	0.413000													7	74					0	0	0.047766	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841637	100841637	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:100841637G>A	ENST00000223114.4	-	5	669	c.503C>T	c.(502-504)cCg>cTg	p.P168L	MOGAT3_ENST00000440203.2_Missense_Mutation_p.P168L|MOGAT3_ENST00000379423.3_Missense_Mutation_p.P168L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	168					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	p.P168L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGGCTCACCGGACAGAGTCC	0.657000													3	26					0	0	0.004672	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702809	40702809	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:40702809G>A	ENST00000356699.5	+	4	495	c.466G>A	c.(466-468)Gat>Aat	p.D156N	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.D156N(2)									AGCTTCCCCGGATCCTCAAGC	0.597000													43	262					0	0	0.048971	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885615	88885615	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:88885615G>T	ENST00000319675.3	-	1	681	c.585C>A	c.(583-585)caC>caA	p.H195Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	195								p.H195Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTGATACGCGTGGATGCTCA	0.557000													5	104					1.23904e-05	1.48131e-05	0.014758	1	0
MYH2	4620	broad.mit.edu	37	17	10426900	10426900	+	Silent	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:10426900G>T	ENST00000245503.5	-	37	5769	c.5385C>A	c.(5383-5385)acC>acA	p.T1795T	MYH2_ENST00000397183.2_Silent_p.T1795T|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1795					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1795T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GATCCTTCACGGTCTGCTCCA	0.567000													6	117					8.12818e-05	9.45343e-05	0.029380	1	0
LRTM2	654429	broad.mit.edu	37	12	1940363	1940363	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:1940363C>A	ENST00000543818.1	+	4	1172	c.330C>A	c.(328-330)tcC>tcA	p.S110S	LRTM2_ENST00000535041.1_Silent_p.S110S|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.S110S|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	110						integral to membrane		p.S110S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGCCCCGCTCCATTTTCGGGG	0.617000													6	76					5.18039e-06	6.2633e-06	0.038147	1	0
CSDE1	7812	broad.mit.edu	37	1	115266602	115266602	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:115266602G>C	ENST00000438362.2	-	16	2291	c.1913C>G	c.(1912-1914)gCt>gGt	p.A638G	CSDE1_ENST00000339438.6_Missense_Mutation_p.A561G|CSDE1_ENST00000261443.5_Missense_Mutation_p.A561G|CSDE1_ENST00000369530.1_Missense_Mutation_p.A607G|CSDE1_ENST00000534699.1_Missense_Mutation_p.A592G|CSDE1_ENST00000530886.1_Missense_Mutation_p.A462G|CSDE1_ENST00000358528.4_Missense_Mutation_p.A592G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	592	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.A592G(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTGGGATCAGCTTCCTCAGT	0.403000													8	120					0	0	0.047766	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237160	5237160	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:5237160G>A	ENST00000274181.7	+	14	2240	c.2102G>A	c.(2101-2103)gGg>gAg	p.G701E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	701	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G701E(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTCAAAGATGGGACTCCATGC	0.378000													8	165					0	0	0.047766	0	0
GPT2	84706	broad.mit.edu	37	16	46943706	46943706	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:46943706C>T	ENST00000440783.2	+	6	1052	c.387C>T	c.(385-387)atC>atT	p.I129I	GPT2_ENST00000340124.4_Silent_p.I229I	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	229					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.I229I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCGACGCCATCCAGGTGAATT	0.577000													9	91					0	0	0.058154	0	0
NOVA2	4858	broad.mit.edu	37	19	46444058	46444058	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:46444058G>A	ENST00000263257.5	-	4	736	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	181	KH 2.					nucleus	RNA binding	p.T181M(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCCGCTGACCGTCACCACGCG	0.632000													3	31					0	0	0.004672	0	0
TPTE	7179	broad.mit.edu	37	21	10934993	10934993	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr21:10934993A>T	ENST00000298232.7	-	14	1113	c.746T>A	c.(745-747)gTt>gAt	p.V249D	TPTE_ENST00000342420.5_Missense_Mutation_p.V229D|TPTE_ENST00000361285.4_Missense_Mutation_p.V267D|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	267	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V249D(1)|p.V267D(1)		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)		AAACCGCACAACTTCCTAAAA	0.333000													5	104					0	0	0.014758	0	0
TRIML1	339976	broad.mit.edu	37	4	189063534	189063534	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:189063534G>A	ENST00000332517.3	+	3	773	c.633G>A	c.(631-633)ctG>ctA	p.L211L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	211					multicellular organismal development		ligase activity|zinc ion binding	p.L211L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAGGAAGCTGAGGAACAATG	0.448000													7	59					0	0	0.029380	0	0
GPR63	81491	broad.mit.edu	37	6	97247416	97247416	+	Silent	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:97247416T>A	ENST00000229955.3	-	2	537	c.192A>T	c.(190-192)acA>acT	p.T64T	GPR63_ENST00000417980.1_Silent_p.T64T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	64						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.T64T(1)		kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGGGCACAGCTGTACTATTCA	0.443000													10	51					0	0	0.058154	0	0
FBN2	2201	broad.mit.edu	37	5	127728883	127728883	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:127728883G>A	ENST00000508053.1	-	16	2384	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G	FBN2_ENST00000508989.1_Silent_p.G437G|FBN2_ENST00000262464.4_Silent_p.G470G			P35556	FBN2_HUMAN	fibrillin 2	470					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.G470G(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCCCCCAACGCCAGGAGAAA	0.577000													10	112					0	0	0.069234	0	0
C2CD5	9847	broad.mit.edu	37	12	22688245	22688245	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:22688245C>A	ENST00000333957.4	-	3	379	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.V42L|C2CD5_ENST00000396028.2_Missense_Mutation_p.V42L|C2CD5_ENST00000542676.1_Missense_Mutation_p.V42L|C2CD5_ENST00000545552.1_Missense_Mutation_p.V42L|C2CD5_ENST00000446597.1_Missense_Mutation_p.V42L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.V42L(1)									TTAAGGTACACATCTGTTTTA	0.284000													4	30					0.00116845	0.0012889	0.021553	1	0
MYH11	4629	broad.mit.edu	37	16	15797975	15797975	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:15797975C>T	ENST00000396324.3	-	42	5900	c.5813G>A	c.(5812-5814)gGa>gAa	p.G1938E	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000573908.1_5'UTR|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_3'UTR|MYH11_ENST00000452625.2_3'UTR|MYH11_ENST00000338282.6_3'UTR|MYH11_ENST00000300036.5_Missense_Mutation_p.G1931E|NDE1_ENST00000396354.1_Intron	NM_001040114.1	NP_001035203.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1931	Carboxyl-terminal.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.G1938E(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTCTCGTTTCCTCGCCTGTG	0.403000			T	CBFB	AML								21	151					0	0	0.055883	0	0
KIAA1211	57482	broad.mit.edu	37	4	57190403	57190403	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:57190403A>T	ENST00000504228.1	+	8	3617	c.3512A>T	c.(3511-3513)aAg>aTg	p.K1171M	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K1164M|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1171M			Q6ZU35	K1211_HUMAN	KIAA1211	1171								p.K1171M(1)		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)					CAGCTGAAAAAGGCCAATACT	0.507000													8	38					0	0	0.058154	0	0
AKT2	208	broad.mit.edu	37	19	40745995	40745995	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:40745995G>C	ENST00000392038.2	-	7	894	c.596C>G	c.(595-597)aCc>aGc	p.T199S	AKT2_ENST00000311278.6_Missense_Mutation_p.T199S|AKT2_ENST00000579047.1_Missense_Mutation_p.T137S|AKT2_ENST00000424901.1_Missense_Mutation_p.T199S	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	199	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.T199S(1)		breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCGGCTCTCGGTGACTGTGTG	0.637000			A		"""ovarian, pancreatic """								26	221					0	0	0.030593	0	0
TYW3	127253	broad.mit.edu	37	1	75199007	75199007	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:75199007G>T	ENST00000370867.3	+	1	168	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	TYW3_ENST00000421739.2_Missense_Mutation_p.D27Y|TYW3_ENST00000457880.2_Missense_Mutation_p.D27Y|TYW3_ENST00000479111.1_3'UTR|CRYZ_ENST00000417775.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	27					tRNA processing		methyltransferase activity	p.D27Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GGGCAGTGTTGACGAGGATGT	0.572000													7	27					0.00198382	0.00216601	0.029380	1	0
FRAS1	80144	broad.mit.edu	37	4	79366688	79366688	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:79366688G>C	ENST00000264895.6	+	42	6118	c.5678G>C	c.(5677-5679)gGc>gCc	p.G1893A	FRAS1_ENST00000325942.6_Missense_Mutation_p.G1893A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1892					cell communication	integral to membrane|plasma membrane	metal ion binding	p.G1893A(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GATCGTTTTGGCCCTGAAACT	0.413000													5	49					0	0	0.014758	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593879	16593879	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:16593879A>G	ENST00000443444.2	+	1	305	c.165A>G	c.(163-165)aaA>aaG	p.K55K	RP11-219A15.1_ENST00000448331.3_Silent_p.K55K|CCDC144A_ENST00000456009.1_Silent_p.K55K|CCDC144A_ENST00000360524.8_Silent_p.K55K|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000399273.1_Silent_p.K55K|CCDC144A_ENST00000340621.5_Silent_p.K55K			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	55								p.K55K(1)									GCTGGTGGAAAAACAGCGTCG	0.662000													3	91					0	0	0.058154	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049592	184049592	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:184049592T>A	ENST00000342981.4	+	30	4889	c.4475T>A	c.(4474-4476)aTt>aAt	p.I1492N	EIF4G1_ENST00000427845.1_Missense_Mutation_p.I1405N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I1498N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I1296N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I1327N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I1498N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I1491N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I1404N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I1498N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I1328N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I1295N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I1452N|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I1491N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I1451N	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1491	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.I1491N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TATTCTGCAATTATTTGTAAG	0.537000													7	80					0	0	0.029380	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604481	160604481	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:160604481T>C	ENST00000302035.6	-	3	971	c.622A>G	c.(622-624)Atc>Gtc	p.I208V	SLAMF1_ENST00000355199.3_Missense_Mutation_p.I208V|SLAMF1_ENST00000538290.1_Missense_Mutation_p.I208V|SLAMF1_ENST00000235739.5_Missense_Mutation_p.I208V	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	208	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.I208V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACGGTGCAGATGTAGATATTG	0.607000													15	98					0	0	0.020292	0	0
SGOL2	151246	broad.mit.edu	37	2	201407368	201407368	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:201407368A>G	ENST00000357799.4	+	5	552	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	SGOL2_ENST00000469840.1_3'UTR|SGOL2_ENST00000409203.3_Missense_Mutation_p.M152V	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	152					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.M152V(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTGCAAGTTGATGCGTCTTCC	0.318000													11	65					0	0	0.093190	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829888	106829888	+	RNA	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr14:106829888C>A	ENST00000390616.2	-	0	105																											GCACCTGGGACAGGACCCCTG	0.567000													7	34					0.0293803	0.0305213	0.029380	1	0
WEE1	7465	broad.mit.edu	37	11	9597496	9597496	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:9597496T>G	ENST00000450114.2	+	2	891	c.638T>G	c.(637-639)cTc>cGc	p.L213R	WEE1_ENST00000299613.6_5'UTR	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	213					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.L213R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GGTAGTTCTCTCTTCATGGAT	0.388000													21	69					0	0	0.055883	0	0
LTBP1	4052	broad.mit.edu	37	2	33500152	33500152	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:33500152G>T	ENST00000404816.2	+	17	3217	c.2864G>T	c.(2863-2865)tGc>tTc	p.C955F	LTBP1_ENST00000402934.1_Missense_Mutation_p.C576F|LTBP1_ENST00000354476.3_Missense_Mutation_p.C956F|LTBP1_ENST00000407925.1_Missense_Mutation_p.C629F|LTBP1_ENST00000404525.1_Missense_Mutation_p.C576F|LTBP1_ENST00000390003.4_Missense_Mutation_p.C630F|LTBP1_ENST00000418533.2_Missense_Mutation_p.C629F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	955	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.C956F(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGTACTAACTGCATAGGTAAT	0.473000													4	81					1.23904e-05	1.48131e-05	0.014758	1	0
RABEP1	9135	broad.mit.edu	37	17	5241393	5241393	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:5241393C>T	ENST00000262477.6	+	5	832	c.608C>T	c.(607-609)aCa>aTa	p.T203I	RABEP1_ENST00000408982.2_Missense_Mutation_p.T203I|RABEP1_ENST00000546142.2_Missense_Mutation_p.T203I|RABEP1_ENST00000341923.6_Missense_Mutation_p.T203I|RABEP1_ENST00000537505.1_Missense_Mutation_p.T160I	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	203					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.T203I(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GATAAACTGACAGAGGCTGAA	0.413000													18	108					0	0	0.049695	0	0
FRS2	10818	broad.mit.edu	37	12	69965138	69965138	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:69965138G>A	ENST00000299293.2	+	8	846	c.336G>A	c.(334-336)gtG>gtA	p.V112V	FRS2_ENST00000550389.1_Silent_p.V112V|FRS2_ENST00000549921.1_Silent_p.V112V|FRS2_ENST00000397997.2_Silent_p.V112V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	112	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.V112V(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTATAAATGTGGTGGAAGAGC	0.368000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	426					0	0	0.028581	0	0
ZP4	57829	broad.mit.edu	37	1	238050095	238050095	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:238050095G>A	ENST00000366570.4	-	6	973	c.815C>T	c.(814-816)tCt>tTt	p.S272F	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	272	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.S272F(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACGAGTGACAGAGCCACGGCT	0.483000													8	102					0	0	0.038147	0	0
ARSF	416	broad.mit.edu	37	X	3002444	3002444	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:3002444C>G	ENST00000381127.1	+	6	788	c.567C>G	c.(565-567)ctC>ctG	p.L189L	ARSF_ENST00000359361.2_Silent_p.L189L|ARSF_ENST00000537104.1_Silent_p.L189L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	189						extracellular region	arylsulfatase activity|metal ion binding	p.L189L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGTCAGCTCTGGCTCTGTG	0.537000													4	48					0	0	0.014758	0	0
PABPC1L	80336	broad.mit.edu	37	20	43566779	43566779	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:43566779G>C	ENST00000372824.1	+	4	1903	c.385G>C	c.(385-387)Gac>Cac	p.D129H	PABPC1L_ENST00000217075.2_Missense_Mutation_p.D129H|PABPC1L_ENST00000372819.1_Missense_Mutation_p.D129H|PABPC1L_ENST00000255136.3_Missense_Mutation_p.D575H|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217073.2_Missense_Mutation_p.D575H|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	575	RRM 2.						nucleotide binding|RNA binding	p.D575H(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						GCTGGAGATTGACAACTCAGA	0.587000													5	38					0	0	0.021553	0	0
PTX4	390667	broad.mit.edu	37	16	1536062	1536062	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:1536062C>G	ENST00000447419.2	-	3	1340	c.1315G>C	c.(1315-1317)Gtt>Ctt	p.V439L	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.V434L			Q96A99	PTX4_HUMAN	pentraxin 4, long	439	Pentaxin.					extracellular region	metal ion binding	p.V434L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGGTTTGCAACTTCCCCGGGA	0.622000													13	25					0	0	0.105934	0	0
XKR6	286046	broad.mit.edu	37	8	10755669	10755669	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:10755669C>T	ENST00000416569.2	-	3	1745	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	XKR6_ENST00000304437.2_Silent_p.P294P	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	573						integral to membrane		p.P573P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GACGCCCCAACGGGGTAGGGG	0.557000													4	44					0	0	0.009096	0	0
ATP1A2	477	broad.mit.edu	37	1	160093741	160093741	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:160093741G>C	ENST00000361216.3	+	5	479	c.390G>C	c.(388-390)ctG>ctC	p.L130L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L130L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	130					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.L130L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTATATCTGGGTGTGGTGC	0.542000													8	42					0	0	0.038147	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924096	105924096	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:105924096G>A	ENST00000393359.2	-	2	1089	c.663C>T	c.(661-663)ttC>ttT	p.F221F	TGFBRAP1_ENST00000258449.1_Silent_p.F221F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	221	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.F221F(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCGCCAGCAGGAACTCCTGTC	0.582000													10	175					0	0	0.033300	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730817	22730817	+	RNA	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr22:22730817G>A	ENST00000390296.2	+	0	340																											TCATCTCTGGGCTCCAGTCTG	0.512000													26	150					0	0	0.108266	0	0
PAGR1	79447	broad.mit.edu	37	16	29830979	29830979	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:29830979G>A	ENST00000562285.1	+	2	158	c.158G>A	c.(157-159)gGg>gAg	p.G53E	AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA|PAGR1_ENST00000320330.6_Silent_p.R223R|AC009133.20_ENST00000569039.1_RNA														p.R223R(1)									GTACCGGGAGGGACCTCTTCA	0.637000													29	161					0	0	0.030593	0	0
GRB10	2887	broad.mit.edu	37	7	50663155	50663155	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:50663155A>C	ENST00000403097.1	-	17	2379	c.1599T>G	c.(1597-1599)atT>atG	p.I533M	GRB10_ENST00000402578.1_Missense_Mutation_p.I481M|GRB10_ENST00000401949.1_Missense_Mutation_p.I539M|GRB10_ENST00000406641.1_Missense_Mutation_p.I481M|GRB10_ENST00000398810.2_Missense_Mutation_p.I481M|GRB10_ENST00000407526.1_Missense_Mutation_p.I481M|GRB10_ENST00000357271.5_Missense_Mutation_p.I493M|GRB10_ENST00000402497.1_Missense_Mutation_p.I481M|GRB10_ENST00000335866.3_Missense_Mutation_p.I481M|GRB10_ENST00000439599.1_Missense_Mutation_p.I533M|GRB10_ENST00000398812.2_Missense_Mutation_p.I539M			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	539	SH2.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.I533M(1)|p.I539M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GGAAATTTTTAATTTTCTGGT	0.378000									Russell-Silver syndrome				89	319					0	0	0.048971	0	0
ANKEF1	63926	broad.mit.edu	37	20	10030301	10030301	+	Missense_Mutation	SNP	G	G	T	rs142831233		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:10030301G>T	ENST00000378380.3	+	6	1413	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.V362L|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.V362L(1)									CTTCGTGATGGTGTTGGAGGA	0.512000													5	61					3.59834e-05	4.23101e-05	0.021553	1	0
FOCAD	54914	broad.mit.edu	37	9	20933099	20933099	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:20933099A>T	ENST00000380249.1	+	30	3768	c.3404A>T	c.(3403-3405)tAc>tTc	p.Y1135F	FOCAD_ENST00000605086.1_Missense_Mutation_p.Y571F|FOCAD_ENST00000338382.6_Missense_Mutation_p.Y1135F	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1135						integral to membrane	binding	p.Y1135F(1)									AGTCTTGAATACAAGTATGTT	0.383000													8	61					0	0	0.058154	0	0
NCAM1	4684	broad.mit.edu	37	11	113140955	113140955	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:113140955G>T	ENST00000316851.7	+	16	2147	c.2147G>T	c.(2146-2148)gGc>gTc	p.G716V	NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	726					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.G725V(1)|p.G181V(1)|p.G716V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCATCGTGGGCATCCTCATC	0.582000													36	211					4.67007e-22	6.36557e-22	0.104719	1	0
FAT1	2195	broad.mit.edu	37	4	187539532	187539532	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:187539532G>C	ENST00000441802.2	-	10	8417	c.8208C>G	c.(8206-8208)agC>agG	p.S2736R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2736	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.S2736R(1)|p.S2739R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTTGACCAGGCTGTAAAGAA	0.448000										HNSCC(5;0.00058)			10	173					0	0	0.093190	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882626	47882626	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:47882626C>T	ENST00000289672.2	-	34	5429	c.5379G>A	c.(5377-5379)ccG>ccA	p.P1793P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1793					cell-cell adhesion	integral to membrane		p.P1793P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGATGGCCCGGCAGGGAAG	0.473000													14	61					0	0	0.105934	0	0
KIAA1755	85449	broad.mit.edu	37	20	36856552	36856552	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:36856552G>A	ENST00000279024.4	-	6	2233	c.1962C>T	c.(1960-1962)acC>acT	p.T654T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	654								p.T654T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CACTCACCTGGGTGGCCTGCA	0.642000													9	41					0	0	0.047766	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983511	128983511	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:128983511C>T	ENST00000274487.4	+	12	2053	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	636	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A636A(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AACATCTGGCCGGAGAGTGGA	0.517000													8	118					0	0	0.047766	0	0
RSC1A1	6248	broad.mit.edu	37	1	15988127	15988127	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:15988127G>T	ENST00000345034.1	+	1	1764	c.1764G>T	c.(1762-1764)caG>caT	p.Q588H	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	588	UBA.				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	p.Q588H(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTTGCAGGAAGCTCTTG	0.473000													26	92					3.73148e-12	4.92923e-12	0.034045	1	0
GYPA	2993	broad.mit.edu	37	4	145039892	145039892	+	Silent	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:145039892T>C	ENST00000360771.4	-	4	361	c.246A>G	c.(244-246)caA>caG	p.Q82Q	GYPA_ENST00000512789.1_Silent_p.Q17Q|GYPA_ENST00000512064.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Silent_p.Q56Q|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000324022.10_Silent_p.Q49Q|GYPA_ENST00000504786.1_Silent_p.Q50Q	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	82			Q -> K (in ENAV/MARS antigen).		interspecies interaction between organisms	membrane fraction	receptor activity	p.Q82Q(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GATGGGCAAGTTGTACCCTTT	0.323000													16	68					0	0	0.024245	0	0
SYT4	6860	broad.mit.edu	37	18	40850335	40850335	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:40850335C>G	ENST00000255224.3	-	4	1617	c.1249G>C	c.(1249-1251)Gcc>Ccc	p.A417P	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.A399P	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	417						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.A417P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGCCACTTGGCAATTTGTCTC	0.468000													18	229					0	0	0.038395	0	0
MDN1	23195	broad.mit.edu	37	6	90365610	90365610	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:90365610C>G	ENST00000369393.3	-	92	15478	c.15363G>C	c.(15361-15363)ctG>ctC	p.L5121L	MDN1_ENST00000428876.1_Silent_p.L5121L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5121					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L5121L(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCACAGTCCTCAGCCTCTTGT	0.527000													6	59					0	0	0.029380	0	0
CHST15	51363	broad.mit.edu	37	10	125769718	125769718	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:125769718C>A	ENST00000346248.5	-	8	2275	c.1633G>T	c.(1633-1635)Gct>Tct	p.A545S	CHST15_ENST00000435907.1_Missense_Mutation_p.A545S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	545					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	p.A545S(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCCAGCCTAGCGTTGAAGGGC	0.622000													10	35					0.000673444	0.00074672	0.069234	1	0
MGMT	4255	broad.mit.edu	37	10	131557476	131557476	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:131557476C>A	ENST00000306010.7	+	4	410	c.378C>A	c.(376-378)acC>acA	p.T126T		NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	126								p.T95T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		AGTCGTTCACCAGACAGGTGT	0.478000								Direct reversal of damage					10	129					0.000151284	0.000173128	0.105934	1	0
DPPA2	151871	broad.mit.edu	37	3	109023457	109023457	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:109023457C>T	ENST00000478945.1	-	7	965	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	240						nucleus	nucleic acid binding	p.R240H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAACTGCAGGCGTACCCAACC	0.502000													13	61					0	0	0.105934	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169717326	169717326	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:169717326A>G	ENST00000444448.2	+	17	1848	c.1372A>G	c.(1372-1374)Aaa>Gaa	p.K458E	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.K401E|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.K458E|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.K323E|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.K373E|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.K323E|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.K373E			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	401	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	p.K401E(1)|p.K458E(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGCTATGTGAAAATATCTCG	0.363000													7	81					0	0	0.038147	0	0
C7	730	broad.mit.edu	37	5	40979944	40979944	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:40979944C>A	ENST00000313164.9	+	17	2642	c.2283C>A	c.(2281-2283)gaC>gaA	p.D761E	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	761	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.D761E(1)					Ovarian(839;0.0112)				CTGGTAGGGACAGCTGTACTC	0.473000													3	45					0.004672	0.00504954	0.004672	1	0
ARPP21	10777	broad.mit.edu	37	3	35785425	35785425	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:35785425G>T	ENST00000187397.4	+	18	2456	c.2000G>T	c.(1999-2001)aGt>aTt	p.S667I	ARPP21_ENST00000337271.5_Missense_Mutation_p.S648I|ARPP21_ENST00000417925.1_Missense_Mutation_p.S668I|ARPP21_ENST00000458225.1_Missense_Mutation_p.S668I|ARPP21_ENST00000444190.1_Missense_Mutation_p.S648I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	667	Gln-rich.					cytoplasm	nucleic acid binding	p.S667I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCTCAGAGGAGTCAACAGATG	0.493000													8	94					5.18039e-06	6.2633e-06	0.038147	1	0
EFR3A	23167	broad.mit.edu	37	8	132982805	132982805	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:132982805G>C	ENST00000254624.5	+	10	1299	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	EFR3A_ENST00000334503.4_Silent_p.G358G|EFR3A_ENST00000519656.1_Silent_p.G322G	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	358			G -> R (in dbSNP:rs2270877).			plasma membrane	binding	p.G358G(1)|p.S348fs*15(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATTTACAGGGGGGATCTGTAG	0.403000													5	69					0	0	0.014758	0	0
PSG8	440533	broad.mit.edu	37	19	43359837	43359837	+	Translation_Start_Site	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:43359837C>T	ENST00000401467.2	-	0	6				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							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)				TTCCTGAGCACGGCTGTAGGC	0.607000													14	61					0	0	0.105934	0	0
BACE1	23621	broad.mit.edu	37	11	117160510	117160510	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:117160510G>T	ENST00000313005.6	-	9	1738	c.1278C>A	c.(1276-1278)ttC>ttA	p.F426L	BACE1_ENST00000513780.1_Missense_Mutation_p.F401L|BACE1_ENST00000445823.2_Missense_Mutation_p.F382L|BACE1_ENST00000528053.1_Missense_Mutation_p.F392L|BACE1_ENST00000392937.6_Missense_Mutation_p.F326L|BACE1_ENST00000510630.1_Missense_Mutation_p.F301L|BACE1_ENST00000428381.2_Missense_Mutation_p.F357L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	426					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	p.F426L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CTGCCGTCCTGAACTcatcgt	0.488000													11	53					0.000673444	0.00074672	0.069234	1	0
HEG1	57493	broad.mit.edu	37	3	124738228	124738228	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:124738228G>A	ENST00000311127.4	-	5	1533	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	489	Ser-rich.					extracellular region|integral to membrane	calcium ion binding	p.S489L(1)|p.S489*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AGTAGAGTCTGAGAACTGGGT	0.463000													18	176					0	0	0.038395	0	0
DNAH10	196385	broad.mit.edu	37	12	124311323	124311323	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:124311323C>G	ENST00000409039.3	+	24	3940	c.3915C>G	c.(3913-3915)ctC>ctG	p.L1305L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1305	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1305L(2)		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)		TCAGGGCTCTCAGAAAGCTAC	0.453000													3	112					0	0	0.004672	0	0
SORCS1	114815	broad.mit.edu	37	10	108923918	108923918	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:108923918C>A	ENST00000263054.6	-	1	374	c.367G>T	c.(367-369)Ggc>Tgc	p.G123C	SORCS1_ENST00000344440.6_Missense_Mutation_p.G123C	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	123						integral to membrane	neuropeptide receptor activity|protein binding	p.G123C(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CGACTCGCGCCCTCTCCCCGT	0.706000													9	37					0.0477658	0.049381	0.047766	1	0
SEMA6D	80031	broad.mit.edu	37	15	48063639	48063639	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:48063639G>T	ENST00000316364.5	+	19	3318	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	SEMA6D_ENST00000389428.3_Missense_Mutation_p.R885I|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R904I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R898I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R898I|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R960I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R941I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R898I|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R917I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	960					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.R960I(1)|p.R898I(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTCTGGAAAGACAAAGAGGT	0.468000													14	89					4.3838e-07	5.45426e-07	0.105934	1	0
CNEP1R1	255919	broad.mit.edu	37	16	50059598	50059598	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:50059598C>T	ENST00000458059.3	+	2	968	c.62C>T	c.(61-63)tCc>tTc	p.S21F	CNEP1R1_ENST00000427478.2_Intron|CNEP1R1_ENST00000567712.1_3'UTR|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000565556.1_5'UTR	NM_153261.4	NP_694993.2	Q8N9A8	TM188_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	8						integral to membrane		p.S21F(1)									GCGGTGGTTTCCGGTAACTGC	0.507000													7	50					0	0	0.047766	0	0
QSOX2	169714	broad.mit.edu	37	9	139110585	139110585	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:139110585G>C	ENST00000358701.5	-	8	1063	c.1026C>G	c.(1024-1026)caC>caG	p.H342Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	342					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.H342Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCAGGGACTTGTGGGCTGCCA	0.597000													5	39					0	0	0.029380	0	0
CMYA5	202333	broad.mit.edu	37	5	79030763	79030763	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:79030763C>A	ENST00000446378.2	+	2	6206	c.6175C>A	c.(6175-6177)Cag>Aag	p.Q2059K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2059						perinuclear region of cytoplasm		p.Q2059K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCAGTGGAACAGGTGAAGTC	0.463000													20	98					0.000132079	0.000152783	0.049695	1	0
OSMR	9180	broad.mit.edu	37	5	38885462	38885462	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:38885462G>A	ENST00000274276.3	+	6	1117	c.715G>A	c.(715-717)Gag>Aag	p.E239K	OSMR_ENST00000502536.1_Missense_Mutation_p.E239K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	239					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.E239K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AGTACTTGAGGAGCCCAAGGA	0.443000													7	69					0	0	0.029380	0	0
SLC28A3	64078	broad.mit.edu	37	9	86917148	86917148	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:86917148C>T	ENST00000376238.4	-	5	540	c.491G>A	c.(490-492)aGg>aAg	p.R164K	SLC28A3_ENST00000537648.1_Missense_Mutation_p.R95K	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	164					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	p.R164K(1)		endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTAGAAGCCTTCTGCCAGG	0.433000													16	69					0	0	0.038395	0	0
TTC16	158248	broad.mit.edu	37	9	130488670	130488670	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:130488670C>G	ENST00000373289.3	+	10	1492	c.1412C>G	c.(1411-1413)cCc>cGc	p.P471R	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	471							binding	p.P471R(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CTCCTCAACCCCAAGCAACCA	0.582000													3	54					0	0	0.004672	0	0
IRX3	79191	broad.mit.edu	37	16	54319192	54319192	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:54319192C>T	ENST00000329734.3	-	2	1313	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	201	Asp/Glu-rich (acidic).				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E201K(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TTTCCCTCCTCGTCAGTGCGG	0.632000													7	48					0	0	0.029380	0	0
PARP8	79668	broad.mit.edu	37	5	50090157	50090157	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:50090157C>T	ENST00000281631.5	+	11	1012	c.854C>T	c.(853-855)aCt>aTt	p.T285I	PARP8_ENST00000514067.2_Missense_Mutation_p.T285I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.T285I|PARP8_ENST00000505554.1_Missense_Mutation_p.T264I|PARP8_ENST00000514342.2_Missense_Mutation_p.T38I|PARP8_ENST00000503750.2_Missense_Mutation_p.T285I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	285						intracellular	NAD+ ADP-ribosyltransferase activity	p.T285I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTATTTTCTACTTTGCGCAGG	0.403000													12	93					0	0	0.080935	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597097	136597097	+	Silent	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:136597097T>G	ENST00000531224.1	-	5	1818	c.1566A>C	c.(1564-1566)cgA>cgC	p.R522R	BCLAF1_ENST00000353331.4_Silent_p.R520R|BCLAF1_ENST00000527759.1_Silent_p.R520R|BCLAF1_ENST00000527536.1_Silent_p.R522R|BCLAF1_ENST00000392348.2_Silent_p.R520R|BCLAF1_ENST00000530767.1_Silent_p.R349R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	522					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R522R(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TAGACTTTTCTCGTGCATCCA	0.443000													22	227					0	0	0.076483	0	0
NLGN1	22871	broad.mit.edu	37	3	173322869	173322869	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:173322869C>A	ENST00000457714.1	+	3	910	c.481C>A	c.(481-483)Ccg>Acg	p.P161T	NLGN1_ENST00000545397.1_Missense_Mutation_p.P161T|NLGN1_ENST00000401917.3_Missense_Mutation_p.P161T|NLGN1_ENST00000361589.4_Missense_Mutation_p.P161T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	161					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.P161T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATATATGTCCCGACTGAGGA	0.338000													4	100					0.00909568	0.00973238	0.009096	1	0
HRNR	388697	broad.mit.edu	37	1	152187617	152187617	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:152187617C>A	ENST00000368801.2	-	3	6563	c.6488G>T	c.(6487-6489)gGg>gTg	p.G2163V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2163					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCCAGACCCATGCTGACC	0.622000													8	783					7.48243e-07	9.20253e-07	0.058154	1	0
OR5L2	26338	broad.mit.edu	37	11	55594985	55594985	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:55594985C>T	ENST00000378397.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTAGGGTGCATGGTGCAAT	0.478000										HNSCC(27;0.073)			23	161					0	0	0.062417	0	0
C3AR1	719	broad.mit.edu	37	12	8211488	8211488	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:8211488G>C	ENST00000307637.4	-	2	1497	c.1294C>G	c.(1294-1296)Ccc>Gcc	p.P432A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	432					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	p.P432A(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAAAGGAAGGGATTAAAGCAA	0.478000													8	109					0	0	0.038147	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417788	25417788	+	RNA	SNP	A	A	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:25417788A>C	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							GGTTGGGTCGATGATGAGAAG	0.522000													19	102					0	0	0.062417	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717037	13717037	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:13717037C>G	ENST00000279593.3	-	13	3344	c.3135G>C	c.(3133-3135)aaG>aaC	p.K1045N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1045					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.K1045N(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCGGTCGCTCTTGAAGGAGA	0.592000													5	60					0	0	0.014758	0	0
MSX1	4487	broad.mit.edu	37	4	4864799	4864799	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:4864799G>A	ENST00000382723.4	+	2	1075	c.841G>A	c.(841-843)Gcc>Acc	p.A281T		NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	275					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	p.A281T(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTCCAGCGCGCCGCGCTGCC	0.711000													3	31					0	0	0.004672	0	0
ACOT7	11332	broad.mit.edu	37	1	6324699	6324699	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:6324699C>T	ENST00000361521.4	-	9	2062	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	ACOT7_ENST00000377845.3_Silent_p.Q337Q|ACOT7_ENST00000377855.2_Silent_p.Q367Q|ACOT7_ENST00000377842.3_Silent_p.Q316Q|ACOT7_ENST00000545482.1_Silent_p.Q252Q	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	367						mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity	p.Q357Q(1)|p.Q316Q(1)		kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TCGCCTTCATCTGCAGGTACC	0.627000													3	29					0	0	0.004672	0	0
SERINC1	57515	broad.mit.edu	37	6	122773169	122773169	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:122773169A>G	ENST00000368454.1	-	8	952	c.623T>C	c.(622-624)cTg>cCg	p.L208P	SERINC1_ENST00000339697.3_Missense_Mutation_p.L208P			Q9NRX5	SERC1_HUMAN	serine incorporator 1	208					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	p.L208P(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AACTAAAGACAGCAGATAATT	0.383000													7	35					0	0	0.029380	0	0
COL5A1	1289	broad.mit.edu	37	9	137646164	137646164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:137646164G>T	ENST00000371817.3	+	16	2233	c.1819G>T	c.(1819-1821)Gga>Tga	p.G607*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	607	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	p.G607*(1)		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)		CGGGAAGCCCGGAAGACGGGT	0.642000													16	81					1.01871e-10	1.3293e-10	0.049695	1	0
NLRP3	114548	broad.mit.edu	37	1	247597434	247597434	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:247597434G>C	ENST00000366497.2	+	6	3137	c.2357G>C	c.(2356-2358)tGc>tCc	p.C786S	NLRP3_ENST00000366496.2_Missense_Mutation_p.C786S|NLRP3_ENST00000391828.3_Missense_Mutation_p.C786S|NLRP3_ENST00000391827.2_Missense_Mutation_p.C729S|NLRP3_ENST00000336119.3_Missense_Mutation_p.C786S|NLRP3_ENST00000348069.2_Missense_Mutation_p.C729S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	843					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.C786S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCGCATGAGTGCTGCTTCGAC	0.557000													19	104					0	0	0.069288	0	0
PTGR2	145482	broad.mit.edu	37	14	74345977	74345977	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr14:74345977G>T	ENST00000555661.1	+	6	843	c.698G>T	c.(697-699)gGt>gTt	p.G233V	PTGR2_ENST00000554885.1_Missense_Mutation_p.G184V|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.G99V|PTGR2_ENST00000555228.1_Missense_Mutation_p.G233V|PTGR2_ENST00000267568.4_Missense_Mutation_p.G233V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	233					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding	p.G233V(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						GACAATGTTGGTGGTAACATC	0.358000													20	140					2.32416e-17	3.14791e-17	0.069288	1	0
HPS1	3257	broad.mit.edu	37	10	100177472	100177472	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:100177472C>T	ENST00000325103.6	-	20	2185	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R651H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	651					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.R651H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GCTGTAGTAGCGCAGGAGCTT	0.637000									Hermansky-Pudlak syndrome				3	31					0	0	0.004672	0	0
ANXA4	307	broad.mit.edu	37	2	70015217	70015217	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:70015217C>T	ENST00000394295.4	+	3	289	c.41C>T	c.(40-42)tCa>tTa	p.S14L	ANXA4_ENST00000536030.1_Intron|ANXA4_ENST00000409920.1_Missense_Mutation_p.S14L	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	12					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	p.S14L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AAAGCTGCTTCAGGATTCAAT	0.532000													4	50					0	0	0.014758	0	0
FOCAD	54914	broad.mit.edu	37	9	20933101	20933101	+	Splice_Site	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:20933101A>T	ENST00000380249.1	+	30	3770	c.3407_splice	c.e30+1	p.N1136_splice	FOCAD_ENST00000605086.1_Splice_Site_p.N572_splice|FOCAD_ENST00000338382.6_Splice_Site_p.N1136_splice	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1136						integral to membrane	binding	p.N1136Y(1)									TCTTGAATACAAGTATGTTGT	0.378000													7	61					0	0	0.047766	0	0
TNNC1	7134	broad.mit.edu	37	3	52486123	52486123	+	Splice_Site	SNP	G	G	A	rs150881554	byFrequency	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:52486123G>A	ENST00000232975.3	-	3	255	c.202_splice	c.e3+1	p.D67_splice		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	67	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.D67D(1)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GGGGCTCACCGTCCTCGTCCA	0.617000													23	119					0	0	0.083992	0	0
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr21:35208915G>C	ENST00000381318.3	+	29	3928	c.3640G>C	c.(3640-3642)Gac>Cac	p.D1214H	ITSN1_ENST00000399352.1_Missense_Mutation_p.D1209H|ITSN1_ENST00000437442.2_Missense_Mutation_p.D1209H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.D1209H|ITSN1_ENST00000399349.1_Missense_Mutation_p.D1138H|ITSN1_ENST00000399353.1_Missense_Mutation_p.D1172H|ITSN1_ENST00000399355.2_Missense_Mutation_p.D1143H|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Missense_Mutation_p.D1214H|ITSN1_ENST00000381291.4_Missense_Mutation_p.D1214H|ITSN1_ENST00000379960.5_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1214	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.D1214H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522000													9	71					0	0	0.058154	0	0
WDR90	197335	broad.mit.edu	37	16	716508	716508	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:716508C>G	ENST00000549091.1	+	38	4892	c.4800C>G	c.(4798-4800)gaC>gaG	p.D1600E	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547944.1_Missense_Mutation_p.D197E|WDR90_ENST00000293879.4_Missense_Mutation_p.D1598E	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1598								p.D1598E(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGTGGGGACCAGCGGGTCA	0.612000													7	49					0	0	0.038147	0	0
LRRC47	57470	broad.mit.edu	37	1	3701699	3701699	+	Silent	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:3701699G>T	ENST00000378251.1	-	3	1173	c.1146C>A	c.(1144-1146)gcC>gcA	p.A382A	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	382					translation		phenylalanine-tRNA ligase activity|RNA binding	p.A382A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCCTTTGACGGCACGGAGCT	0.597000													6	52					2.0095e-06	2.45733e-06	0.029380	1	0
SNHG14	104472715	broad.mit.edu	37	15	25334999	25334999	+	RNA	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:25334999G>T	ENST00000546682.1	+	0	825				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GGAGGCTGTTGGATCCCTCCT	0.498000													7	36					8.12818e-05	9.45343e-05	0.029380	1	0
UGT2B11	10720	broad.mit.edu	37	4	70079941	70079941	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:70079941C>T	ENST00000446444.1	-	1	508	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTACACAAACCGTATGTTAAG	0.418000													5	33					0	0	0.014758	0	0
TCF20	6942	broad.mit.edu	37	22	42608568	42608568	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr22:42608568A>T	ENST00000359486.3	-	1	2880	c.2744T>A	c.(2743-2745)gTg>gAg	p.V915E	TCF20_ENST00000335626.4_Missense_Mutation_p.V915E	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	915					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.V915E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCATGGACACCAAACCACC	0.463000													3	49					0	0	0.004672	0	0
WDR38	401551	broad.mit.edu	37	9	127618838	127618838	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:127618838G>A	ENST00000373574.1	+	6	633	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	193			A -> G (in dbSNP:rs10760381).					p.A193T(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGACACAGTGCCAACATCAG	0.642000													7	13					0	0	0.029380	0	0
PIGV	55650	broad.mit.edu	37	1	27124066	27124066	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:27124066T>C	ENST00000374145.1	+	4	1895	c.1213T>C	c.(1213-1215)Ttt>Ctt	p.F405L	PIGV_ENST00000078527.4_Missense_Mutation_p.F405L|PIGV_ENST00000449950.2_Missense_Mutation_p.F177L	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	405					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity	p.F405L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TCTCACCAGGTTTTTGGGCTC	0.488000													9	136					0	0	0.047766	0	0
HEG1	57493	broad.mit.edu	37	3	124738360	124738360	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:124738360G>A	ENST00000311127.4	-	5	1401	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	445						extracellular region|integral to membrane	calcium ion binding	p.S445L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGGTGCGACTGACCTAGACAC	0.493000													13	201					0	0	0.105934	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432184	140432184	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140432184C>A	ENST00000306549.3	+	1	1206	c.1129C>A	c.(1129-1131)Cga>Aga	p.R377R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		377	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R377R(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGACATTCGAGTGGGAGG	0.498000													5	82					0.014758	0.0156347	0.014758	1	0
EML1	2009	broad.mit.edu	37	14	100344889	100344889	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr14:100344889T>C	ENST00000262233.6	+	4	590	c.451T>C	c.(451-453)Tcc>Ccc	p.S151P	EML1_ENST00000327921.9_Missense_Mutation_p.S139P|EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Missense_Mutation_p.S170P	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	151						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAATGGGGATTCCAGAGGAAA	0.507000													3	131					0	0	0.009096	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101726745	101726745	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:101726745C>A	ENST00000506729.1	-	11	1990	c.1819G>T	c.(1819-1821)Gta>Tta	p.V607L	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.V545L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.V354L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.V607L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.V354L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	607						integral to membrane|plasma membrane	transporter activity	p.V607L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGTCAGGTACAACCCTGAAA	0.338000													16	62					2.35188e-11	3.08775e-11	0.038395	1	0
NRXN1	9378	broad.mit.edu	37	2	51255078	51255078	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:51255078C>T	ENST00000404971.1	-	2	1673	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	NRXN1_ENST00000402717.3_Missense_Mutation_p.G112S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G112S|NRXN1_ENST00000405581.1_Missense_Mutation_p.G112S|NRXN1_ENST00000406316.2_Missense_Mutation_p.G112S|NRXN1_ENST00000406859.3_Missense_Mutation_p.G112S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G112S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	112	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G112S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCCAGGCGCCGTCGTTAACC	0.667000													4	31					0	0	0.009096	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689585	33689585	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:33689585A>C	ENST00000321505.4	+	20	5615	c.5435A>C	c.(5434-5436)gAc>gCc	p.D1812A	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D1818A|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like									p.D1812A(1)									GCAGAAAACGACCCGTCTGAC	0.637000													5	23					0	0	0.014758	0	0
ANKRD44	91526	broad.mit.edu	37	2	198051747	198051747	+	Splice_Site	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:198051747C>A	ENST00000328737.2	-	2	112	c.36_splice	c.e2+1	p.L12_splice	ANKRD44_ENST00000450567.1_Splice_Site_p.L12_splice|ANKRD44_ENST00000282272.8_Splice_Site_p.L29_splice|ANKRD44_ENST00000409919.1_Splice_Site_p.L37_splice|ANKRD44_ENST00000409153.1_Splice_Site_p.L37_splice|ANKRD44_ENST00000539527.1_5'UTR			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	37							protein binding	p.L37L(2)|p.L12L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TATCTCTTACCAGAGTATTCA	0.448000													13	200					3.27435e-08	4.1709e-08	0.020292	1	0
GTF3C1	2975	broad.mit.edu	37	16	27483125	27483125	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:27483125C>T	ENST00000356183.4	-	30	4485	c.4470G>A	c.(4468-4470)aaG>aaA	p.K1490K	GTF3C1_ENST00000561623.1_Silent_p.K1490K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1490						transcription factor TFIIIC complex	DNA binding|protein binding	p.K1490K(1)		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						GGGCCCGGTTCTTCTTGGGGC	0.602000													4	107					0	0	0.021553	0	0
SYCP2L	221711	broad.mit.edu	37	6	10959066	10959066	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:10959066C>A	ENST00000283141.6	+	26	2509	c.2213C>A	c.(2212-2214)cCg>cAg	p.P738Q		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	738						nucleus		p.P738Q(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGAAAGCACCGGATTGCCTA	0.343000													12	59					2.31682e-05	2.75444e-05	0.024245	1	0
UGT2B11	10720	broad.mit.edu	37	4	70066243	70066243	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:70066243G>T	ENST00000446444.1	-	6	1513	c.1505C>A	c.(1504-1506)gCa>gAa	p.A502E	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	502					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A502E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TATCACAGTTGCCACACAGGC	0.438000													7	81					0.00198382	0.00216601	0.029380	1	0
SLC13A4	26266	broad.mit.edu	37	7	135366424	135366424	+	Missense_Mutation	SNP	C	C	A	rs137894236		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:135366424C>A	ENST00000354042.4	-	16	2457	c.1768G>T	c.(1768-1770)Gtt>Ttt	p.V590F	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	590						integral to plasma membrane	sodium:sulfate symporter activity	p.V590F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGTCCAATAACGTTGACTCCC	0.557000													5	46					0.0215528	0.0227206	0.021553	1	0
EPS8L1	54869	broad.mit.edu	37	19	55591906	55591906	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:55591906C>T	ENST00000245618.5	+	1	147	c.45C>T	c.(43-45)gaC>gaT	p.D15D	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000588359.1_Silent_p.D15D|EPS8L1_ENST00000201647.6_Intron	NM_017729.3	NP_060199.3	Q8TE68	ES8L1_HUMAN	EPS8-like 1	0						cytoplasm		p.D15D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCAGCCAGGACGAGGTGGGGG	0.617000													3	28					0	0	0.014758	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661433	77661433	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:77661433G>C	ENST00000296043.6	+	5	3060	c.2107G>C	c.(2107-2109)Gac>Cac	p.D703H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	703					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.D702H(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAGGCAGAAGACCCTGGGAG	0.652000													4	141					0	0	0.009096	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222969	134222969	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:134222969G>C	ENST00000359579.4	+	8	1085	c.765G>C	c.(763-765)caG>caC	p.Q255H		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	255					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.Q255H(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TCCATATCCAGAGGAATGTGA	0.488000													42	130					0	0	0.039052	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416939	89416939	+	RNA	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:89416939G>A	ENST00000490686.1	-	0	271																											GCTGAACCTTGATGGGACCCC	0.478000													12	113					0	0	0.038395	0	0
ACAN	176	broad.mit.edu	37	15	89382197	89382197	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:89382197C>T	ENST00000439576.2	+	3	748	c.374C>T	c.(373-375)tCc>tTc	p.S125F	ACAN_ENST00000352105.7_Missense_Mutation_p.S125F|ACAN_ENST00000561243.1_Missense_Mutation_p.S125F|ACAN_ENST00000559004.1_Missense_Mutation_p.S125F|ACAN_ENST00000558207.1_Missense_Mutation_p.S125F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	125					cell adhesion		hyaluronic acid binding|sugar binding	p.S125F(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCCTGCGCTCCAATGACTCT	0.627000													5	123					0	0	0.021553	0	0
MARS	4141	broad.mit.edu	37	12	57910304	57910304	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:57910304A>G	ENST00000262027.5	+	21	2777	c.2643A>G	c.(2641-2643)aaA>aaG	p.K881K		NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	881	WHEP-TRS.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	p.K881K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ATCTAAAGAAACAGTTGGCTG	0.458000													5	42					0	0	0.014758	0	0
HOXA3	3200	broad.mit.edu	37	7	27147768	27147768	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:27147768G>A	ENST00000396352.4	-	3	1297	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Silent_p.F366F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	366					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F366F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCCCCCCACGAAGACGGGGC	0.677000													6	21					0	0	0.021553	0	0
SLC34A1	6569	broad.mit.edu	37	5	176825194	176825194	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:176825194G>A	ENST00000324417.5	+	13	1918	c.1827G>A	c.(1825-1827)ccG>ccA	p.P609P	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	609					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P609P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCACCCCCGCTGCCCCCCA	0.687000													4	41					0	0	0.014758	0	0
SYNE4	163183	broad.mit.edu	37	19	36496333	36496333	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:36496333C>A	ENST00000324444.3	-	6	985	c.874G>T	c.(874-876)Gac>Tac	p.D292Y	SYNE4_ENST00000340477.5_Missense_Mutation_p.D179Y	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4									p.D292Y(1)									TGAGAGGTGTCTGCTTCCTGG	0.562000													4	47					0.00909568	0.00973238	0.009096	1	0
NUP107	57122	broad.mit.edu	37	12	69115726	69115726	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:69115726G>A	ENST00000229179.4	+	16	1749	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	NUP107_ENST00000378905.2_Missense_Mutation_p.D322N|NUP107_ENST00000539906.1_Missense_Mutation_p.D444N	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	473					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.D473N(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCAACTCTGGATGAAACTGA	0.463000													8	299					0	0	0.038147	0	0
MACF1	23499	broad.mit.edu	37	1	39798795	39798795	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:39798795G>C	ENST00000564288.1	+	37	7312	c.6535G>C	c.(6535-6537)Gag>Cag	p.E2179Q	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E2216Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E2184Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E619Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2184					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.E619Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACACTCTTGAGACTGAATA	0.348000													6	72					0	0	0.021553	0	0
CYP7B1	9420	broad.mit.edu	37	8	65509420	65509420	+	Nonsense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:65509420T>A	ENST00000310193.3	-	6	1473	c.1300A>T	c.(1300-1302)Aag>Tag	p.K434*	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	434					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.K434*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				CACTTCAGCTTTTTCCCTCTT	0.333000													5	50					0	0	0.014758	0	0
MTFR1L	56181	broad.mit.edu	37	1	26153134	26153134	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:26153134T>C	ENST00000466284.1	+	4	1850	c.268T>C	c.(268-270)Tgg>Cgg	p.W90R	MTFR1L_ENST00000374301.3_Missense_Mutation_p.W90R|MTFR1L_ENST00000474295.1_Missense_Mutation_p.W90R|MTFR1L_ENST00000374303.2_Missense_Mutation_p.W90R|MTFR1L_ENST00000374307.5_Missense_Mutation_p.W90R|MTFR1L_ENST00000469815.1_Intron|MTFR1L_ENST00000374300.3_Missense_Mutation_p.W90R|MTFR1L_ENST00000524618.1_5'UTR|MTFR1L_ENST00000526894.1_Missense_Mutation_p.W90R					mitochondrial fission regulator 1-like																		GAGGCACACCTGGAAACCCAG	0.592000													4	149					0	0	0.009096	0	0
TENM2	57451	broad.mit.edu	37	5	167674048	167674048	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:167674048G>T	ENST00000519204.1	+	26	5859	c.5741G>T	c.(5740-5742)aGt>aTt	p.S1914I	TENM2_ENST00000403607.2_Missense_Mutation_p.S1859I|TENM2_ENST00000520394.1_Missense_Mutation_p.S1796I|TENM2_ENST00000518659.1_Missense_Mutation_p.S2035I|TENM2_ENST00000545108.1_Missense_Mutation_p.S2034I					teneurin transmembrane protein 2									p.S2035I(1)|p.S1914I(1)|p.S1868I(1)									GTCTACGACAGTACCGCCGTC	0.532000													12	110					4.3838e-07	5.45426e-07	0.105934	1	0
CALR	811	broad.mit.edu	37	19	13051264	13051264	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:13051264G>A	ENST00000316448.5	+	5	773	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	234	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	p.E234K(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCAAGCCTGAGGTTGGTGT	0.552000													3	25					0	0	0.004672	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102494220	102494220	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:102494220C>G	ENST00000321521.9	+	16	2253	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	PPIP5K2_ENST00000414217.1_Silent_p.L560L|PPIP5K2_ENST00000358359.3_Silent_p.L560L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	560					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.L560L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACATGACCTCAAAATATATG	0.333000													11	80					0	0	0.093190	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265972	3265972	+	RNA	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:3265972G>A	ENST00000576468.1	+	0	418																											GCCTATGACCGCTTTGTCGCC	0.512000													16	61					0	0	0.028581	0	0
IRS4	8471	broad.mit.edu	37	X	107975900	107975900	+	Silent	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:107975900G>T	ENST00000372129.2	-	1	3751	c.3675C>A	c.(3673-3675)ccC>ccA	p.P1225P	RP6-24A23.6_ENST00000563887.1_Silent_p.P6P	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1225						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P1225P(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTCTCTCCGGGGGTCTTGGCA	0.577000													57	105					4.33383e-22	5.94513e-22	0.048971	1	0
CGGBP1	8545	broad.mit.edu	37	3	88104803	88104803	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:88104803C>A	ENST00000398392.2	-	1	1656	c.324G>T	c.(322-324)gtG>gtT	p.V108V	CGGBP1_ENST00000462901.1_Silent_p.V108V|CGGBP1_ENST00000309534.6_Silent_p.V108V|CGGBP1_ENST00000482016.1_Silent_p.V108V			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding	p.V108V(2)		kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GGCACATTTTCACAAAGTCCT	0.488000													7	40					0.0293803	0.0305213	0.029380	1	0
FAM83A	84985	broad.mit.edu	37	8	124195477	124195477	+	Silent	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:124195477C>G	ENST00000518448.1	+	2	2395	c.381C>G	c.(379-381)ccC>ccG	p.P127P	FAM83A_ENST00000318462.6_Silent_p.P127P|FAM83A_ENST00000546351.1_Silent_p.P127P|FAM83A_ENST00000536633.1_Silent_p.P127P|FAM83A_ENST00000522648.1_Silent_p.P127P|FAM83A_ENST00000276699.6_Silent_p.P127P			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	127								p.P127P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGAAGCCCTACCTGAAGG	0.612000													14	120					0	0	0.033300	0	0
CDH18	1016	broad.mit.edu	37	5	19473694	19473694	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:19473694C>T	ENST00000507958.1	-	15	3004	c.2014G>A	c.(2014-2016)Gac>Aac	p.D672N	CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D672N|CDH18_ENST00000274170.4_Missense_Mutation_p.D672N			Q13634	CAD18_HUMAN	cadherin 18, type 2	672					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D672N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GCTGTGATGTCAAAGGCCTCT	0.507000													9	102					0	0	0.047766	0	0
ACKR4	51554	broad.mit.edu	37	3	132319791	132319791	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr3:132319791T>A	ENST00000249887.2	+	2	646	c.550T>A	c.(550-552)Tgc>Agc	p.C184S	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.C184S(1)									CAATGCTAGGTGCATTCCCAT	0.433000													5	12					0	0	0.021553	0	0
TKTL2	84076	broad.mit.edu	37	4	164394375	164394375	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:164394375G>A	ENST00000280605.3	-	1	672	c.512C>T	c.(511-513)gCc>gTc	p.A171V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	171						cytoplasm	metal ion binding|transketolase activity	p.A171V(1)		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)				GTAGTGGGAGGCAAAAGCAAA	0.552000													20	61					0	0	0.055883	0	0
TPCN1	53373	broad.mit.edu	37	12	113704105	113704105	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:113704105C>A	ENST00000550785.1	+	5	743	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	TPCN1_ENST00000335509.6_Missense_Mutation_p.L120M|TPCN1_ENST00000392569.4_Missense_Mutation_p.L52M|TPCN1_ENST00000541517.1_Missense_Mutation_p.L192M	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	120						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.L120M(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCTGCTGCTGCTGCTGCTCTC	0.652000													60	326					6.26901e-30	8.71148e-30	0.048971	1	0
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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 K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433000													3	121					0	0	0.004672	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788222	140788222	+	Silent	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140788222A>T	ENST00000520790.1	+	1	453	c.453A>T	c.(451-453)cgA>cgT	p.R151R	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1												p.R151R(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTACACGACTATCGCTTG	0.348000													11	52					0	0	0.093190	0	0
CGNL1	84952	broad.mit.edu	37	15	57730535	57730535	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:57730535C>A	ENST00000281282.5	+	2	416	c.338C>A	c.(337-339)cCa>cAa	p.P113Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	113	Head.					myosin complex|tight junction	motor activity	p.P113Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAGCCTAGCCCAATAAGAAAC	0.488000													5	52					3.59834e-05	4.23101e-05	0.021553	1	0
RNF150	57484	broad.mit.edu	37	4	141888915	141888915	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:141888915G>T	ENST00000306799.3	-	2	1250	c.597C>A	c.(595-597)aaC>aaA	p.N199K	RNF150_ENST00000420921.2_Missense_Mutation_p.N58K|RNF150_ENST00000515673.1_Missense_Mutation_p.N199K|RNF150_ENST00000507500.1_Missense_Mutation_p.N199K|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000379512.2_Missense_Mutation_p.N58K	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	199						integral to membrane	zinc ion binding	p.N108K(1)|p.N199K(1)		breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ATTTCTGCAAGTTCCGGGTTC	0.468000													15	89					2.5808e-16	3.45182e-16	0.038395	1	0
GPATCH3	63906	broad.mit.edu	37	1	27224092	27224092	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:27224092T>A	ENST00000361720.5	-	2	599	c.576A>T	c.(574-576)agA>agT	p.R192S		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	192						intracellular	nucleic acid binding	p.R192S(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCACATTCCCTCTGGGCATCA	0.607000													10	49					0	0	0.069234	0	0
ZPBP	11055	broad.mit.edu	37	7	50070836	50070836	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:50070836A>G	ENST00000046087.2	-	5	627	c.558T>C	c.(556-558)taT>taC	p.Y186Y	ZPBP_ENST00000419417.1_Silent_p.Y185Y|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	186					binding of sperm to zona pellucida	extracellular region		p.Y186Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAGAAATATTATAAATGCTAT	0.343000													8	59					0	0	0.047766	0	0
SH3D19	152503	broad.mit.edu	37	4	152095909	152095909	+	Missense_Mutation	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:152095909T>C	ENST00000409598.4	-	7	1774	c.607A>G	c.(607-609)Atc>Gtc	p.I203V	SH3D19_ENST00000424281.1_Missense_Mutation_p.I203V|SH3D19_ENST00000409252.2_Missense_Mutation_p.I203V|SH3D19_ENST00000455740.1_Missense_Mutation_p.I203V|SH3D19_ENST00000514152.1_Missense_Mutation_p.I203V|SH3D19_ENST00000304527.4_Missense_Mutation_p.I203V|SH3D19_ENST00000427414.2_Missense_Mutation_p.I203V			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	203	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	p.I200V(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ATGAGATCGATGTCCACCAAG	0.527000													6	351					0	0	0.021553	0	0
SERPINB13	5275	broad.mit.edu	37	18	61262278	61262278	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:61262278G>T	ENST00000344731.5	+	7	733	c.631G>T	c.(631-633)Gta>Tta	p.V211L	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	211					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.V211L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAGTAAATCTGTACAGATGAT	0.383000													23	73					9.62636e-23	1.32906e-22	0.069288	1	0
GRIK4	2900	broad.mit.edu	37	11	120776031	120776031	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:120776031C>A	ENST00000527524.2	+	13	1592	c.1305C>A	c.(1303-1305)caC>caA	p.H435Q	GRIK4_ENST00000438375.2_Missense_Mutation_p.H435Q			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	435					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.H435Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGGGAACCACCAGGAGATGG	0.542000													12	225					1.05317e-09	1.3577e-09	0.020292	1	0
MET	4233	broad.mit.edu	37	7	116412045	116412045	+	Splice_Site	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:116412045T>C	ENST00000397752.3	+	14	3228		c.e14+2		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				9	32					0	0	0.058154	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537293	27537293	+	RNA	SNP	A	A	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:27537293A>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGACAGCCTCAGTGCTATTTT	0.428000													10	64					0	0	0.058154	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624311	31624311	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:31624311C>G	ENST00000349552.1	+	7	638	c.638C>G	c.(637-639)aCc>aGc	p.T213S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	213						extracellular region	lipid binding	p.T213S(1)									GCACCAGCCACCACAGCCAGC	0.577000													11	139					0	0	0.080935	0	0
TLL1	7092	broad.mit.edu	37	4	167020587	167020587	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:167020587G>C	ENST00000061240.2	+	20	3462	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	TLL1_ENST00000507499.1_Missense_Mutation_p.E962Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	939	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E939Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTGAAGTGGAGGAAGAAGC	0.463000													24	129					0	0	0.083992	0	0
LARGE	9215	broad.mit.edu	37	22	34157357	34157357	+	Splice_Site	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr22:34157357C>T	ENST00000354992.2	-	3	678		c.e3+1		LARGE_ENST00000397394.2_Splice_Site|LARGE_ENST00000337431.2_Splice_Site|LARGE_ENST00000437602.2_Splice_Site|LARGE_ENST00000402320.1_Splice_Site	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase						glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATTCTTACCTTCGAAGCT	0.468000													8	128					0	0	0.080935	0	0
SMC1A	8243	broad.mit.edu	37	X	53432771	53432771	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:53432771C>T	ENST00000322213.4	-	10	1790	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	SMC1A_ENST00000375340.6_Missense_Mutation_p.D321N	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	555	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.D555N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGAATACAGTCCCGGCCTGTC	0.517000													4	18					0	0	0.009096	0	0
FAM129A	116496	broad.mit.edu	37	1	184863276	184863276	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:184863276T>G	ENST00000367511.3	-	3	444	c.251A>C	c.(250-252)aAg>aCg	p.K84T		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	84					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.K84T(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTTCCACTTCTTTATGTCTTC	0.353000													3	94					0	0	0.014758	0	0
TRIM54	57159	broad.mit.edu	37	2	27505721	27505721	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:27505721C>T	ENST00000296098.4	+	1	392	c.122C>T	c.(121-123)cCc>cTc	p.P41L	TRIM54_ENST00000380075.2_Missense_Mutation_p.P41L	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	41					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	p.P25L(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGATCCTGCCCTGCCAACAC	0.597000													22	281					0	0	0.083992	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090623	39090623	+	Silent	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:39090623G>C	ENST00000591517.1	-	22	1639	c.1611C>G	c.(1609-1611)ctC>ctG	p.L537L	MAP4K1_ENST00000396857.2_Silent_p.L537L|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Silent_p.L533L|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	537	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.L537L(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCTAGGAAAGAGCTGCAGGG	0.592000													4	97					0	0	0.009096	0	0
SPEN	23013	broad.mit.edu	37	1	16264106	16264106	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:16264106C>A	ENST00000375759.3	+	12	10679	c.10475C>A	c.(10474-10476)tCc>tAc	p.S3492Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3492					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.S3492Y(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CACCTGACTTCCCAGAGACCC	0.547000													9	89					7.48243e-07	9.20253e-07	0.058154	1	0
GRIA2	2891	broad.mit.edu	37	4	158233867	158233867	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:158233867C>A	ENST00000296526.7	+	4	831	c.506C>A	c.(505-507)gCt>gAt	p.A169D	GRIA2_ENST00000507898.1_Missense_Mutation_p.A122D|GRIA2_ENST00000393815.2_Missense_Mutation_p.A122D|GRIA2_ENST00000449365.1_Missense_Mutation_p.A122D|GRIA2_ENST00000264426.9_Missense_Mutation_p.A169D	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	169					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A169D(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GATTCTGCTGCTGAAAAGAAA	0.378000													9	34					0.0581538	0.0598313	0.058154	1	0
OR2T34	127068	broad.mit.edu	37	1	248737569	248737569	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:248737569G>T	ENST00000328782.2	-	1	511	c.490C>A	c.(490-492)Ctc>Atc	p.L164I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			ATGGGGGTGAGCAACAAACCA	0.522000													4	23					0.014758	0.0156347	0.014758	1	0
GTPBP2	54676	broad.mit.edu	37	6	43592282	43592282	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:43592282G>A	ENST00000307126.5	-	7	1064	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Silent_p.A267A	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	355							GTP binding|GTPase activity	p.A355A(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGCAGTGACGGCATCATCCT	0.602000													11	44					0	0	0.093190	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168856	60168856	+	Silent	SNP	T	T	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:60168856T>C	ENST00000261187.4	+	4	944	c.780T>C	c.(778-780)ggT>ggC	p.G260G	SLC16A7_ENST00000543448.1_Silent_p.G161G|SLC16A7_ENST00000547379.1_Silent_p.G260G|SLC16A7_ENST00000552024.1_Silent_p.G260G|SLC16A7_ENST00000552432.1_Silent_p.G260G	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	260						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.G260G(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TGTTCCTAGGTTTTTTTGCCC	0.353000													6	300					0	0	0.029380	0	0
SETBP1	26040	broad.mit.edu	37	18	42281721	42281721	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr18:42281721G>T	ENST00000282030.5	+	2	706	c.410G>T	c.(409-411)gGg>gTg	p.G137V	SETBP1_ENST00000426838.4_Missense_Mutation_p.G137V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	137						nucleus	DNA binding	p.G137V(2)|p.G83V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGCAGTCTGGGGACCAGAAG	0.463000									Schinzel-Giedion syndrome				4	76					1.024e-07	1.28904e-07	0.014758	1	0
FAM83D	81610	broad.mit.edu	37	20	37570740	37570740	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr20:37570740G>T	ENST00000217429.4	+	2	753	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	208					cell division|mitosis	cytoplasm|spindle pole		p.D238Y(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TATGTGCATGGATCTGAAAGT	0.423000													21	131					1.10513e-12	1.46893e-12	0.069288	1	0
PCDHA12	56137	broad.mit.edu	37	5	140257174	140257174	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140257174C>T	ENST00000398631.2	+	1	2117	c.2117C>T	c.(2116-2118)gCg>gTg	p.A706V	PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.A706V(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCATCTGTGCGGTGTCCAGC	0.672000													7	46					0	0	0.047766	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872486	57872486	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:57872486C>A	ENST00000393797.2	-	6	776	c.584G>T	c.(583-585)aGg>aTg	p.R195M	ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R203M|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R124M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R124M|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R124M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	124					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R124M(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCTGAGCCCTGCTTGGGAG	0.582000													22	112					1.22574e-08	1.57071e-08	0.069288	1	0
RNF20	56254	broad.mit.edu	37	9	104314736	104314736	+	Silent	SNP	G	G	A	rs146044886		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:104314736G>A	ENST00000389120.3	+	13	1692	c.1602G>A	c.(1600-1602)gcG>gcA	p.A534A		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	534					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.A534A(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGAGCCTGCGGAGCTAAAAC	0.502000													15	150					0	0	0.024245	0	0
PKN1	5585	broad.mit.edu	37	19	14569090	14569090	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:14569090T>A	ENST00000242783.6	+	9	1487	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PKN1_ENST00000342216.4_Missense_Mutation_p.L447Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	441	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.L441Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGCGGGGCCTGTGTGCCCTC	0.602000													4	53					0	0	0.009096	0	0
MYH3	4621	broad.mit.edu	37	17	10535214	10535214	+	Silent	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr17:10535214A>G	ENST00000583535.1	-	35	5163	c.5076T>C	c.(5074-5076)acT>acC	p.T1692T	MYH3_ENST00000226209.7_Silent_p.T1692T	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1692					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.T1692T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTGCTCCAGAGTAGCCCGCA	0.657000													4	53					0	0	0.009096	0	0
TRPC5	7224	broad.mit.edu	37	X	111019956	111019956	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:111019956G>C	ENST00000262839.2	-	11	3425	c.2507C>G	c.(2506-2508)tCc>tGc	p.S836C		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	836					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.S836C(1)		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						ACCCATGAAGGAGCGTTTGCT	0.458000													21	89					0	0	0.069288	0	0
NCOA7	135112	broad.mit.edu	37	6	126199463	126199463	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:126199463A>G	ENST00000368357.3	+	6	758	c.406A>G	c.(406-408)Aat>Gat	p.N136D	NCOA7_ENST00000229634.9_Missense_Mutation_p.N32D|NCOA7_ENST00000392477.2_Missense_Mutation_p.N136D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	136					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.N136D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATCACTCCCAATAAATTGGT	0.338000													8	37					0	0	0.038147	0	0
PCDH15	65217	broad.mit.edu	37	10	55826528	55826528	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr10:55826528C>T	ENST00000373965.2	-	19	2624	c.2230G>A	c.(2230-2232)Ggt>Agt	p.G744S	PCDH15_ENST00000395438.1_Missense_Mutation_p.G737S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.G737S|PCDH15_ENST00000395433.1_Missense_Mutation_p.G715S|PCDH15_ENST00000395445.1_Missense_Mutation_p.G744S|PCDH15_ENST00000395430.1_Missense_Mutation_p.G737S|PCDH15_ENST00000320301.6_Missense_Mutation_p.G737S|PCDH15_ENST00000409834.1_Missense_Mutation_p.G348S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G737S|PCDH15_ENST00000373957.3_Missense_Mutation_p.G715S|PCDH15_ENST00000395432.2_Missense_Mutation_p.G700S|PCDH15_ENST00000437009.1_Missense_Mutation_p.G666S|PCDH15_ENST00000414778.1_Missense_Mutation_p.G742S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	737	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G742S(2)|p.G737S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTACTTGACCCACAAAGGCA	0.328000										HNSCC(58;0.16)			3	61					0	0	0.004672	0	0
SYTL5	94122	broad.mit.edu	37	X	37935840	37935840	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:37935840G>T	ENST00000357972.5	+	6	1121	c.575G>T	c.(574-576)aGa>aTa	p.R192I	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R192I|SYTL5_ENST00000456733.2_Missense_Mutation_p.R192I			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	192					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.R192I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						AGCAAGTTCAGATCGGCAACC	0.328000													7	16					0.0293803	0.0305213	0.029380	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720634	140720634	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:140720634C>T	ENST00000394576.2	+	1	2096	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A699V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGTGGCCGCGGTCTCCTGC	0.662000													18	138					0	0	0.055883	0	0
PABPC5	140886	broad.mit.edu	37	X	90690801	90690801	+	Silent	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:90690801C>A	ENST00000312600.3	+	2	439	c.225C>A	c.(223-225)gcC>gcA	p.A75A	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	75	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.A75A(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAGAGTGGGCCTTGAACACCA	0.512000													8	14					0.000157383	0.000178201	0.038147	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90573714	90573714	+	RNA	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:90573714C>T	ENST00000551025.1	+	0	3723							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.S762S(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CCACTGAAAGCATTTTGCAGC	0.368000													9	103					0	0	0.047766	0	0
NLRP5	126206	broad.mit.edu	37	19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr19:56539799C>T	ENST00000390649.3	+	7	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502000													5	241					0	0	0.021553	0	0
DPYSL2	1808	broad.mit.edu	37	8	26501589	26501589	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr8:26501589C>T	ENST00000311151.5	+	10	1504	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V	DPYSL2_ENST00000521913.1_Silent_p.V328V|DPYSL2_ENST00000523027.1_Silent_p.V328V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	364					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.V364V(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GGATGTCCGTCATCTGGGACA	0.587000													3	17					0	0	0.004672	0	0
COL15A1	1306	broad.mit.edu	37	9	101765772	101765772	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:101765772C>A	ENST00000375001.3	+	8	1526	c.1103C>A	c.(1102-1104)cCc>cAc	p.P368H		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	368	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P368H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCGAGGTGCCCATCAGCACT	0.587000													23	101					7.07758e-08	8.96214e-08	0.099896	1	0
MS4A6A	64231	broad.mit.edu	37	11	59949120	59949120	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr11:59949120G>A	ENST00000528851.1	-	2	221	c.81C>T	c.(79-81)ccC>ccT	p.P27P	MS4A6A_ENST00000532169.1_Silent_p.P27P|MS4A6A_ENST00000323961.3_Silent_p.P27P|MS4A6A_ENST00000412309.2_Silent_p.P55P|MS4A6A_ENST00000533023.1_Silent_p.P27P|MS4A6A_ENST00000426738.2_Silent_p.P27P|MS4A6A_ENST00000420732.2_Silent_p.P27P|MS4A6A_ENST00000530839.1_Silent_p.P27P|MS4A6A_ENST00000529054.1_Silent_p.P55P			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	27						integral to membrane	receptor activity	p.P27P(2)|p.P55P(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGTGGGTTCGGGTTTCTCTG	0.458000													36	135					0	0	0.074837	0	0
SPEG	10290	broad.mit.edu	37	2	220337808	220337808	+	Silent	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:220337808G>A	ENST00000312358.7	+	16	4269	c.4137G>A	c.(4135-4137)ctG>ctA	p.L1379L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1379					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.L1379L(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGTGCAGCTGCTGGAGCACG	0.662000													9	24					0	0	0.058154	0	0
IFNG	3458	broad.mit.edu	37	12	68549203	68549203	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr12:68549203G>A	ENST00000229135.3	-	4	562	c.431C>T	c.(430-432)tCg>tTg	p.S144L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	144					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.S144L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AGCTGCTGGCGACAGTTCAGC	0.433000													156	24					0	0	0.048971	0	0
GLIS3	169792	broad.mit.edu	37	9	3879429	3879429	+	Silent	SNP	C	C	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr9:3879429C>T	ENST00000324333.10	-	7	2023	c.1830G>A	c.(1828-1830)gaG>gaA	p.E610E	GLIS3_ENST00000381971.3_Silent_p.E765E|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	610					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	p.E610E(1)|p.E765E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCTTACCTCTCAGCTCCTG	0.517000													4	58					0	0	0.014758	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													4	47					0	0	0.014758	0	0
ATP11A	23250	broad.mit.edu	37	13	113474218	113474218	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr13:113474218G>A	ENST00000487903.1	+	8	767	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V227M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V227M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V227M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	227					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	p.V227M(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CGCCAGGTTCGTGGGTCGCAT	0.627000													3	38					0	0	0.009096	0	0
PDS5A	23244	broad.mit.edu	37	4	39871068	39871068	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr4:39871068C>G	ENST00000303538.8	-	22	2990	c.2451G>C	c.(2449-2451)aaG>aaC	p.K817N		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	817					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.K817N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTTTTCCATTCTTTTCACCTG	0.318000													14	188					0	0	0.028581	0	0
PKHD1	5314	broad.mit.edu	37	6	51908488	51908488	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr6:51908488C>A	ENST00000371117.3	-	26	3031	c.2756G>T	c.(2755-2757)gGt>gTt	p.G919V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G919V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	919					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G919V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAGCAGGAACCTGGGCAATG	0.443000													8	33					0.000274275	0.000307303	0.047766	1	0
MACF1	23499	broad.mit.edu	37	1	39799732	39799732	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:39799732G>C	ENST00000564288.1	+	37	8249	c.7472G>C	c.(7471-7473)aGa>aCa	p.R2491T	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2528T|MACF1_ENST00000372915.3_Missense_Mutation_p.R2496T|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.R931T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2496					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R931T(1)|p.R931I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTTGGAGAGAGAGGAGGCC	0.403000													12	146					0	0	0.020292	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711659	155711659	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:155711659C>G	ENST00000295101.2	+	3	1817	c.1340C>G	c.(1339-1341)tCa>tGa	p.S447*		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	447					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S447*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCGGGCAACTCAGAAGAAAAA	0.433000													4	55					0	0	0.009096	0	0
UBR4	23352	broad.mit.edu	37	1	19499434	19499434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:19499434delG	ENST00000375267.2	-	25	3448	c.3445delC	c.(3445-3447)atfs	p.H1149fs	UBR4_ENST00000375217.2_Frame_Shift_Del_p.H1149fs|UBR4_ENST00000375226.2_Frame_Shift_Del_p.H1149fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.H1149fs			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1149					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACGACTTATGAGGATCAGTC	0.512													13	69	---	---	---	---					
CD55	1604	broad.mit.edu	37	1	207504605	207504607	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr1:207504605_207504607delGAA	ENST00000367064.3	+	6	1075_1077	c.817_819delGAA	c.(817-819)del	p.E273del	CD55_ENST00000367062.4_In_Frame_Del_p.E273del|CD55_ENST00000391920.4_In_Frame_Del_p.E273del|CD55_ENST00000367063.2_In_Frame_Del_p.E273del|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000314754.8_In_Frame_Del_p.E273del|CD55_ENST00000391921.4_In_Frame_Del_p.E209del|CD55_ENST00000367065.5_In_Frame_Del_p.E273del	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	273	Sushi 4.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAATAATGATGAAGGAGAGTGGA	0.394													10	131	---	---	---	---					
ITGA4	3676	broad.mit.edu	37	2	182359493	182359495	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr2:182359493_182359495delACA	ENST00000397033.2	+	12	1723_1725	c.1293_1295delACA	c.(1291-1296)ggg>gg	p.GQ431del		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	431					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTATGTTTGGACAGTCTATATCA	0.310													16	151	---	---	---	---					
CTNND2	1501	broad.mit.edu	37	5	11110989	11110991	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr5:11110989_11110991delTTC	ENST00000304623.8	-	14	2631_2633	c.2442_2444delGAA	c.(2440-2445)aaa>aa	p.KK816del	CTNND2_ENST00000359640.2_In_Frame_Del_p.KK816del|CTNND2_ENST00000458100.2_In_Frame_Del_p.KK383del|CTNND2_ENST00000511377.1_In_Frame_Del_p.KK725del|CTNND2_ENST00000503622.1_In_Frame_Del_p.KK479del|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	816	Poly-Lys.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATTTCTTTTTCTTCTTCTTCT	0.502													9	670	---	---	---	---					
SUN1	23353	broad.mit.edu	37	7	893192	893192	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:893192delG	ENST00000456758.2	+	16	1767	c.1767delG	c.(1765-1767)atfs	p.M589fs	SUN1_ENST00000389574.3_Frame_Shift_Del_p.M317fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.M400fs|SUN1_ENST00000425407.2_Frame_Shift_Del_p.M317fs|SUN1_ENST00000405266.1_Frame_Shift_Del_p.M437fs|SUN1_ENST00000413514.2_Frame_Shift_Del_p.M209fs|SUN1_ENST00000452783.2_Frame_Shift_Del_p.M297fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	427					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGACCAGATGGAAGGCGGCG	0.647													12	76	---	---	---	---					
LOC100505938	100505938	broad.mit.edu	37	7	8363958	8363959	+	RNA	INS	-	-	AGAA	rs141819780	by1000genomes	TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:8363958_8363959insAGAA	ENST00000424460.1	+	0	493				RP4-594A5.1_ENST00000435967.1_lincRNA																							aagaaagaaagagaaagaaaga	0.406													6	8	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48547627	48547627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr7:48547627delA	ENST00000435803.1	+	50	13530	c.13506delA	c.(13504-13506)acfs	p.T4502fs	ABCA13_ENST00000544596.1_Frame_Shift_Del_p.T232fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4502					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTGGTTCACAAACTTCCTAT	0.493													7	46	---	---	---	---					
GOLGA6L7P	728310	broad.mit.edu	37	15	29090935	29090936	+	RNA	INS	-	-	T			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:29090935_29090936insT	ENST00000569815.1	-	0	408_409					NR_047567.1																						ACACATAAGGATTCGTATGGTA	0.505													10	3	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292971	102292974	+	RNA	DEL	CTCA	CTCA	-	rs75843814		TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr15:102292971_102292974delCTCA	ENST00000561463.1	+	0	1017_1020																											GATGCTGCTTCTCAGAGCTGCTGT	0.583													2	4	---	---	---	---					
LOC101060604	101060604	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chr16:21469994delA	ENST00000520823.2	-	0	749																											ACTGTACATTAAAAAAAAAAA	0.294													3	5	---	---	---	---					
OFD1	8481	broad.mit.edu	37	X	13764945	13764946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5122-01A-01D-1753-08	TCGA-75-5122-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e359b24f-7312-432f-b054-68dedc027df2	a7bd52d4-5248-4a03-ac40-1169fe1d45f7	g.chrX:13764945_13764946insA	ENST00000380567.1	+	9	1153_1154	c.281_282insA	c.(280-282)gaafs	p.E94fs	OFD1_ENST00000398395.3_Frame_Shift_Ins_p.E234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Frame_Shift_Ins_p.E234fs|OFD1_ENST00000340096.6_Frame_Shift_Ins_p.E234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234	LisH.				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						AAAATGGAAGCAAAAAAAAAGT	0.302													11	37	---	---	---	---