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
NRXN2	9379	broad.mit.edu	37	11	64419085	64419085	+	Missense_Mutation	SNP	G	G	A	rs149051438	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:64419085G>A	ENST00000265459.6	-	14	3021	c.2560C>T	c.(2560-2562)Cgg>Tgg	p.R854W	NRXN2_ENST00000377551.1_Missense_Mutation_p.R854W|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.R847W|NRXN2_ENST00000377559.3_Missense_Mutation_p.R814W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	854	Laminin G-like 4.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AACTCCAGCCGCATATGGGCT	0.612000											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261978	125261978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:125261978C>T	ENST00000431078.1	+	8	1533	c.1169C>T	c.(1168-1170)tCa>tTa	p.S390L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	390	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GATGGGCTCTCAGTGAGTTTC	0.552000													11	72					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45821624	45821624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:45821624G>A	ENST00000177694.1	+	4	1043	c.832G>A	c.(832-834)Gga>Aga	p.G278R		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	278					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGTGAACGACGGAGAGCCAGA	0.547000													11	102					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732649	181732649	+	Silent	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:181732649C>A	ENST00000526775.1	+	33	4905	c.4740C>A	c.(4738-4740)acC>acA	p.T1580T	CACNA1E_ENST00000358338.5_Silent_p.T1531T|CACNA1E_ENST00000360108.3_Silent_p.T1580T|CACNA1E_ENST00000367567.4_Silent_p.T1206T|CACNA1E_ENST00000357570.5_Silent_p.T1550T|CACNA1E_ENST00000367570.1_Silent_p.T1599T|CACNA1E_ENST00000367573.2_Silent_p.T1599T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1599					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGCTGTGGACCTTTGTGCAGT	0.498000													6	52					0.00198382	0.0020463	1	1	0
OR4K15	81127	broad.mit.edu	37	14	20443741	20443741	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr14:20443741C>T	ENST00000305051.5	+	1	139	c.64C>T	c.(64-66)Cca>Tca	p.P22S		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAAGTCCCTTCCAAAATCGAT	0.383000													6	84					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375096	101375096	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:101375096G>T	ENST00000344327.3	-	2	1028	c.604C>A	c.(604-606)Cag>Aag	p.Q202K	TRPC6_ENST00000532133.1_Missense_Mutation_p.Q202K|TRPC6_ENST00000360497.4_Missense_Mutation_p.Q202K|TRPC6_ENST00000348423.4_Missense_Mutation_p.Q202K	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	202					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATCTTGCTGGAGTTCAGAC	0.453000													13	46					0.00010058	0.000107122	1	1	0
ELOVL7	79993	broad.mit.edu	37	5	60050500	60050500	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:60050500C>T	ENST00000505959.1	-	11	1284	c.758G>A	c.(757-759)aGg>aAg	p.R253K	ELOVL7_ENST00000508821.1_Missense_Mutation_p.R266K|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R266K|ELOVL7_ENST00000425382.1_Missense_Mutation_p.R266K			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	266					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTGGGCAACCTCTGACCTTT	0.383000													4	46					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546450	11546450	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:11546450C>G	ENST00000389362.4	-	3	597	c.562G>C	c.(562-564)Ggc>Cgc	p.G188R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTGGTTGCCTCCTTGTGGG	0.602000													35	288					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968561	21968561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr16:21968561T>A	ENST00000268379.4	+	2	803	c.39T>A	c.(37-39)ttT>ttA	p.F13L	UQCRC2_ENST00000561553.1_Missense_Mutation_p.F13L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	13					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TTTAGAGATTTTATTCCCTCA	0.463000													7	26					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7410649	7410649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:7410649G>T	ENST00000379834.2	+	13	1741	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	412	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AAGGACCAAGGAAGAACGGTC	0.373000													12	15					0.010729	0.0109805	1	1	0
OPN5	221391	broad.mit.edu	37	6	47775961	47775961	+	Silent	SNP	T	T	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:47775961T>A	ENST00000489301.2	+	5	913	c.828T>A	c.(826-828)gcT>gcA	p.A276A	OPN5_ENST00000393699.2_Silent_p.A276A|OPN5_ENST00000371211.2_Silent_p.A276A|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	276					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTGGTCAGCTTTTGGAAGGC	0.463000													113	96					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3256971	3256971	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr8:3256971G>T	ENST00000520002.1	-	17	2905	c.2350C>A	c.(2350-2352)Cat>Aat	p.H784N	CSMD1_ENST00000539096.1_Missense_Mutation_p.H783N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H784N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H783N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H784N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H783N|CSMD1_ENST00000602723.1_Missense_Mutation_p.H784N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	784	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTCACAATGTAAAGAATCC	0.403000													21	27					4.96729e-08	5.75854e-08	1	1	0
BZW1	9689	broad.mit.edu	37	2	201683065	201683065	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:201683065G>T	ENST00000409600.1	+	8	1223	c.768G>T	c.(766-768)gaG>gaT	p.E256D	BZW1_ENST00000409226.1_Missense_Mutation_p.E260D|BZW1_ENST00000452790.2_Missense_Mutation_p.E288D	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	256	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTCGTAAGGAGCTCCAGAAAG	0.403000													12	14					1.61879e-10	1.92783e-10	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22805046	22805046	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr18:22805046G>A	ENST00000361524.3	-	4	2984	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W	ZNF521_ENST00000538137.2_Missense_Mutation_p.R946W|ZNF521_ENST00000584787.1_Missense_Mutation_p.R726W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	946					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATATGTTCCCGGAGGCCATTT	0.478000			T	PAX5	ALL								20	72					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104728316	104728316	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chrX:104728316G>A	ENST00000372582.1	+	6	1465	c.709G>A	c.(709-711)Gac>Aac	p.D237N	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D237N	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	237					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTTACTCACAGACAAGCCTCC	0.378000													8	27					0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1396238	1396238	+	Silent	SNP	G	G	T	rs72896283	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:1396238G>T	ENST00000378785.2	+	10	1916	c.921G>T	c.(919-921)gcG>gcT	p.A307A		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	307							ATP binding|nucleoside-triphosphatase activity	p.A307A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCGGGCGCGCCTGGTGA	0.627000													3	29					6.4e-05	6.92893e-05	1	1	0
DNAJB2	3300	broad.mit.edu	37	2	220147946	220147946	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:220147946C>T	ENST00000336576.5	+	7	825	c.537C>T	c.(535-537)atC>atT	p.I179I	DNAJB2_ENST00000392086.4_Silent_p.I179I|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	179					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACGCCGCATCACCACACGCA	0.557000													10	49					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57867715	57867715	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:57867715G>T	ENST00000391705.3	+	4	762	c.478G>T	c.(478-480)Gtc>Ttc	p.V160F	ZNF304_ENST00000598744.1_Missense_Mutation_p.V118F|ZNF304_ENST00000443917.2_Missense_Mutation_p.V207F|ZNF304_ENST00000282286.5_Missense_Mutation_p.V160F	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGCTGTACAGTCCACATGTT	0.493000													10	75					7.48243e-07	8.37776e-07	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76257080	76257080	+	Silent	SNP	A	A	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:76257080A>G	ENST00000529032.1	+	19	3513	c.3513A>G	c.(3511-3513)ccA>ccG	p.P1171P	C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Silent_p.P1172P|C11orf30_ENST00000334736.3_Silent_p.P1171P|C11orf30_ENST00000525919.1_Silent_p.P1172P|C11orf30_ENST00000524767.1_Silent_p.P1186P|C11orf30_ENST00000524490.1_Silent_p.P1073P|C11orf30_ENST00000533248.1_Silent_p.P1080P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1171					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGGATCCCCCAAAGAAGGCTC	0.483000													12	59					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186159	157186159	+	Silent	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:157186159T>C	ENST00000339562.4	-	3	902	c.540A>G	c.(538-540)caA>caG	p.Q180Q	NR4A2_ENST00000409108.2_Silent_p.Q180Q|NR4A2_ENST00000426264.1_Silent_p.Q117Q|NR4A2_ENST00000409572.1_Silent_p.Q180Q|NR4A2_ENST00000429376.1_Silent_p.Q117Q|NR4A2_ENST00000539077.1_Silent_p.Q191Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	180	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAGGGGGCGATTGCTTAAAGG	0.627000													35	186					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111395555	111395555	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:111395555G>A	ENST00000535254.1	-	24	3251	c.3184C>T	c.(3184-3186)Cgt>Tgt	p.R1062C	BUB1_ENST00000302759.6_Missense_Mutation_p.R1082C|BUB1_ENST00000409311.1_Missense_Mutation_p.R1025C	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	1082	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTTCGTGAACGCTTACATTCT	0.308000													4	32					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420280	52420280	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr3:52420280G>T	ENST00000420323.2	+	55	8991	c.8730G>T	c.(8728-8730)caG>caT	p.Q2910H		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2910	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGATGCCCAGAAGGACCTGG	0.592000													4	16					0.150653	0.150653	1	1	0
PRG4	10216	broad.mit.edu	37	1	186280656	186280656	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:186280656G>T	ENST00000445192.2	+	10	3766	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	PRG4_ENST00000367486.3_Nonsense_Mutation_p.G1198*|PRG4_ENST00000367485.4_Nonsense_Mutation_p.G1148*|PRG4_ENST00000367483.4_Nonsense_Mutation_p.G1200*|PRG4_ENST00000367484.3_Nonsense_Mutation_p.G770*	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1241	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AGGACTAACTGGACAAATAGT	0.363000													9	118					0.000442599	0.000467585	1	1	0
MEP1B	4225	broad.mit.edu	37	18	29788174	29788174	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr18:29788174C>T	ENST00000269202.6	+	9	906	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	MEP1B_ENST00000581447.1_Missense_Mutation_p.R287W	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	287	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGACTGGCAACGGGTTTCACA	0.478000													5	96					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077597	179077597	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:179077597G>C	ENST00000502732.1	-	12	3008	c.2805C>G	c.(2803-2805)atC>atG	p.I935M	ABL2_ENST00000367623.4_Missense_Mutation_p.I914M|ABL2_ENST00000512653.1_Missense_Mutation_p.I920M|ABL2_ENST00000511413.1_Missense_Mutation_p.I832M|ABL2_ENST00000344730.3_Missense_Mutation_p.I817M|ABL2_ENST00000507173.1_Missense_Mutation_p.I811M|ABL2_ENST00000408940.3_Missense_Mutation_p.I899M|ABL2_ENST00000504405.1_Missense_Mutation_p.I796M	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	935	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGTGGGTGAGATAAGGACTG	0.552000			T	ETV6	AML								13	165					0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95142055	95142055	+	Silent	SNP	A	A	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr9:95142055A>C	ENST00000375587.3	+	5	993	c.478A>C	c.(478-480)Aga>Cga	p.R160R		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	160					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AGCAGAAGAGAGAAAAGATCT	0.338000													6	40					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141041814	141041814	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:141041814G>T	ENST00000239440.4	-	20	2874	c.2809C>A	c.(2809-2811)Ctg>Atg	p.L937M	ARAP3_ENST00000513878.1_Missense_Mutation_p.L599M|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	937	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						ACACCTTCCAGCCGGAGCCCT	0.652000													13	110					1.61879e-10	1.92783e-10	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	8					0.00198382	0.0020463	1	1	0
CSNK2A3	283106	broad.mit.edu	37	11	11373631	11373631	+	Missense_Mutation	SNP	C	C	T	rs74507390	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:11373631C>T	ENST00000528848.2	-	1	1273	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GCGCTGCTGACGGGCGTACTG	0.567000													5	51					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829499	57829499	+	Missense_Mutation	SNP	T	T	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr20:57829499T>G	ENST00000371030.2	+	5	4735	c.4735T>G	c.(4735-4737)Tca>Gca	p.S1579A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1579						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTCAGCTAGTTCACACCACAA	0.478000													10	88					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208479	106208479	+	RNA	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr14:106208479C>T	ENST00000390548.2	-	0	420																											CATGTGACCTCAGGGGTCCGG	0.587000													27	100					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38299579	38299579	+	RNA	SNP	G	G	A	rs140801083	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr7:38299579G>A	ENST00000443402.2	-	0	630					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GTACACACATGAGAACTGAAA	0.443000													3	15					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471837	47471837	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:47471837C>A	ENST00000266581.4	-	2	1415	c.949G>T	c.(949-951)Gca>Tca	p.A317S	AMIGO2_ENST00000321382.3_Missense_Mutation_p.A317S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.A317S|AMIGO2_ENST00000429635.1_Missense_Mutation_p.A317S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	317	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCCGTATTTGCATTACCTGTC	0.458000													30	113					9.65021e-13	1.18147e-12	1	1	0
LRFN3	79414	broad.mit.edu	37	19	36430545	36430545	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:36430545C>T	ENST00000588831.1	+	3	1272	c.218C>T	c.(217-219)tCc>tTc	p.S73F	LRFN3_ENST00000246529.3_Missense_Mutation_p.S73F			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	73					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCATCGCCTCCGTGCGCCGC	0.706000													6	44					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20225247	20225247	+	Silent	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr3:20225247T>C	ENST00000412997.1	-	3	543	c.192A>G	c.(190-192)ttA>ttG	p.L64L	SGOL1_ENST00000452020.1_Silent_p.L64L|SGOL1_ENST00000437051.1_Silent_p.L64L|SGOL1_ENST00000412868.1_Silent_p.L64L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000442720.1_Silent_p.L64L|SGOL1_ENST00000421451.1_Silent_p.L64L|SGOL1_ENST00000383774.1_Silent_p.L64L|SGOL1_ENST00000417364.1_Silent_p.L64L|SGOL1_ENST00000429446.3_Silent_p.L64L|SGOL1_ENST00000263753.4_Silent_p.L64L|SGOL1_ENST00000443724.1_Silent_p.L64L|SGOL1_ENST00000425061.1_Silent_p.L64L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Silent_p.L64L|SGOL1_ENST00000306698.2_Silent_p.L64L	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	64	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AAGCTAAAACTAACATTTTGT	0.308000													8	18					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169108878	169108878	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:169108878G>A	ENST00000256935.8	+	7	681	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	201					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATCAAAGAAGAAATGGTGAG	0.373000													9	82					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130912763	130912763	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:130912763G>A	ENST00000409031.1	-	15	2624	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	SMPD4_ENST00000431183.2_Silent_p.L390L|SMPD4_ENST00000426662.2_Silent_p.L128L|SMPD4_ENST00000452225.2_Silent_p.L233L|SMPD4_ENST00000351288.6_Silent_p.L463L|SMPD4_ENST00000443958.2_Silent_p.L156L|SMPD4_ENST00000453750.1_Silent_p.L241L|SMPD4_ENST00000339679.7_Silent_p.L350L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	453					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	p.L492L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGTCTGTGCGGAGCGCGCGGT	0.592000													7	43					0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34871791	34871791	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:34871791C>A	ENST00000431794.3	-	7	979	c.457G>T	c.(457-459)Gcc>Tcc	p.A153S	MYO19_ENST00000268852.9_Missense_Mutation_p.A153S|MYO19_ENST00000586007.1_Missense_Mutation_p.A153S|MYO19_ENST00000544606.1_Missense_Mutation_p.A19S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	153	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTGAGGTGGCCACCACAGCA	0.537000													8	14					5.18039e-06	5.75111e-06	1	1	0
DDR1	780	broad.mit.edu	37	6	30865940	30865940	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:30865940G>A	ENST00000324771.8	+	18	2855	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Silent_p.T732T|DDR1_ENST00000376570.4_Silent_p.T732T|DDR1_ENST00000418800.2_Silent_p.T732T|DDR1_ENST00000454612.2_Silent_p.T732T|DDR1_ENST00000513240.1_Silent_p.T775T|DDR1_ENST00000376568.3_Silent_p.T769T|DDR1_ENST00000452441.1_Silent_p.T769T|DDR1_ENST00000508312.1_Silent_p.T750T|DDR1_ENST00000376575.3_Silent_p.T775T|DDR1_ENST00000376569.3_Silent_p.T732T|DDR1_ENST00000446312.1_3'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	769	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCTGGCCACGCGGAACTGCC	0.572000													5	71					0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379438	220379438	+	Silent	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:220379438C>A	ENST00000358078.4	+	1	387	c.373C>A	c.(373-375)Cgg>Agg	p.R125R	ASIC4_ENST00000347842.3_Silent_p.R125R|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	125						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TCCCAGCAGCCGGGGACAGAT	0.617000													17	32					1.45105e-14	1.81036e-14	1	1	0
ZNF782	158431	broad.mit.edu	37	9	99580413	99580413	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr9:99580413G>A	ENST00000481138.1	-	6	2553	c.1892C>T	c.(1891-1893)tCa>tTa	p.S631L	ZNF782_ENST00000535338.1_Missense_Mutation_p.S499L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCTTAGGACTGACTTCTCACT	0.428000													6	109					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242098664	242098664	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:242098664G>C	ENST00000234038.6	+	5	814	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	PPP1R7_ENST00000404405.3_Missense_Mutation_p.E108Q|PPP1R7_ENST00000402734.1_Missense_Mutation_p.E55Q|PPP1R7_ENST00000406106.3_Missense_Mutation_p.E114Q|PPP1R7_ENST00000272983.8_Missense_Mutation_p.E71Q|PPP1R7_ENST00000401987.1_Missense_Mutation_p.E71Q|PPP1R7_ENST00000407025.1_Missense_Mutation_p.E114Q|PPP1R7_ENST00000485630.1_3'UTR	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	114						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TAAATGCATTGAGAATCTGGA	0.502000													13	242					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11022782	11022782	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr7:11022782A>T	ENST00000403050.3	+	3	1348	c.896A>T	c.(895-897)aAt>aTt	p.N299I	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	299							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGCAAGAGTAATGAGGTAGAT	0.403000													3	20					0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48434439	48434439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr18:48434439G>T	ENST00000321341.5	+	3	387	c.115G>T	c.(115-117)Gca>Tca	p.A39S	ME2_ENST00000382927.3_Missense_Mutation_p.A39S	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	39					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTAGGGAATGGCATTTACTTT	0.313000													10	13					1.76689e-08	2.08525e-08	1	1	0
SORBS2	8470	broad.mit.edu	37	4	186545479	186545479	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr4:186545479G>A	ENST00000431808.1	-	14	1655	c.1092C>T	c.(1090-1092)aaC>aaT	p.N364N	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.N364N			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	364						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATTTCTGCGTTTTGCCGGG	0.517000													17	71					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118675894	118675894	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:118675894G>A	ENST00000392533.3	-	7	911	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	TAOK3_ENST00000419821.2_Missense_Mutation_p.H141Y	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	141	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCAATGCATGAGAATGTAGG	0.398000													10	63					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56234451	56234451	+	Splice_Site	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:56234451C>T	ENST00000322569.4	-	4	611	c.520_splice	c.e4+1	p.G174_splice	MMP19_ENST00000409200.3_Splice_Site_p.G174_splice|MMP19_ENST00000548629.1_Splice_Site_p.G151_splice	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	174					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G174W(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TGTTGCCTACCAGGCCCATCA	0.522000													15	66					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1241726	1241726	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:1241726C>T	ENST00000308624.5	+	10	915	c.786C>T	c.(784-786)gcC>gcT	p.A262A	SNTG2_ENST00000407292.1_Silent_p.A135A	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	262					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTACACAGCCCAGGATGGCA	0.622000													7	18					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129785595	129785595	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:129785595G>A	ENST00000358825.5	-	17	2729	c.2498C>T	c.(2497-2499)cCc>cTc	p.P833L	PRDM10_ENST00000304538.6_Missense_Mutation_p.P743L|PRDM10_ENST00000526082.1_Missense_Mutation_p.P747L|PRDM10_ENST00000528746.1_Missense_Mutation_p.P803L|PRDM10_ENST00000423662.2_Missense_Mutation_p.P747L|PRDM10_ENST00000360871.3_Missense_Mutation_p.P829L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	833					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACAGCAGACGGGAGGGGTGGC	0.602000													19	98					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232389908	232389908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:232389908C>T	ENST00000305141.4	-	3	1260	c.1127G>A	c.(1126-1128)tGc>tAc	p.C376Y		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	376					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGATGGCAGCAGGCCCCGAG	0.657000													8	46					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39973309	39973309	+	Splice_Site	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:39973309G>A	ENST00000321562.4	+	2	349		c.e2-1			NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa						protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TCCCCCCCCAGCTATGATCGC	0.607000													10	64					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910349	39910349	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr15:39910349C>T	ENST00000350221.3	-	11	1495	c.1286G>A	c.(1285-1287)aGa>aAa	p.R429K		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	429										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TTCCTTTTTTCTTTCTGAAGA	0.378000													9	39					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448884	60448884	+	Silent	SNP	G	G	A	rs140074164		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr20:60448884G>A	ENST00000360469.5	+	7	1066	c.978G>A	c.(976-978)ccG>ccA	p.P326P	CDH4_ENST00000543233.1_Silent_p.P252P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	326	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGAGCCCGTCCCAGAATA	0.632000													16	150					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53111585	53111585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:53111585G>T	ENST00000376352.2	+	10	1027	c.820G>T	c.(820-822)Ggt>Tgt	p.G274C	STXBP4_ENST00000405898.1_Missense_Mutation_p.G274C|STXBP4_ENST00000434978.2_Missense_Mutation_p.G274C|STXBP4_ENST00000398391.2_Missense_Mutation_p.G199C|STXBP4_ENST00000299341.4_Missense_Mutation_p.G199C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	274						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGTAAATGTTGGTGCACATGA	0.348000													7	42					2.7689e-08	3.23862e-08	1	1	0
DHX40	79665	broad.mit.edu	37	17	57684530	57684530	+	Silent	SNP	C	C	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:57684530C>G	ENST00000451169.2	+	21	2552	c.2193C>G	c.(2191-2193)ggC>ggG	p.G731G	DHX40_ENST00000251241.4_Silent_p.G779G|DHX40_ENST00000425628.3_Silent_p.G702G			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	779							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGGAAACAGGCTAAGGTGGTG	0.488000													16	66					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3299630	3299630	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr16:3299630C>T	ENST00000219596.1	-	3	1100	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	MEFV_ENST00000536379.1_Missense_Mutation_p.R143Q|MEFV_ENST00000339854.4_Missense_Mutation_p.R174Q|MEFV_ENST00000541159.1_Missense_Mutation_p.R143Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	354					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GTCCTGGCACCGGGGGCAGCC	0.647000													10	40					0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55377343	55377343	+	Missense_Mutation	SNP	C	C	T	rs138402445		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:55377343C>T	ENST00000326321.3	+	7	1117	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R362C|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R345C	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	362					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		tctcctTTATCGCTGGTGCTC	0.532000													8	54					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1639474	1639474	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:1639474G>A	ENST00000409644.1	+	9	5467	c.5467G>A	c.(5467-5469)Ggc>Agc	p.G1823S	WDR81_ENST00000419248.1_Missense_Mutation_p.G596S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.G620S|WDR81_ENST00000309182.5_Missense_Mutation_p.G772S|WDR81_ENST00000446363.1_Missense_Mutation_p.G462S|WDR81_ENST00000545662.1_Missense_Mutation_p.G454S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	596										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTTCTGCGAGGCTGGCCAGC	0.687000													12	56					0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118452185	118452185	+	Silent	SNP	T	T	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:118452185T>A	ENST00000359415.4	+	3	516	c.351T>A	c.(349-351)atT>atA	p.I117I	ARCN1_ENST00000264028.4_Silent_p.I76I|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000392859.3_Intron			P48444	COPD_HUMAN	archain 1	76					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACAGCAACATTTTAGAAGATT	0.363000													12	52					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	58					0	0	1	0	0
ZMYND10	51364	broad.mit.edu	37	3	50382591	50382591	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr3:50382591G>A	ENST00000231749.3	-	2	1437	c.165C>T	c.(163-165)ggC>ggT	p.G55G	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Silent_p.G55G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	55						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATGGGCTCGCCCTGGCTGA	0.602000										TSP Lung(30;0.18)			4	22					0	0	1	0	0
NANOGP1	404635	broad.mit.edu	37	12	8050922	8050922	+	RNA	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:8050922T>C	ENST00000607111.1	+	0	325																				kidney(1)|lung(4)|prostate(1)	6						aacaactggctgaagaatagc	0.388000													3	16					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182598751	182598751	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr3:182598751G>A	ENST00000323116.5	+	21	2751	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	831					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATGATACAAGAAGCCCATGT	0.333000													5	30					0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477370	180477370	+	Splice_Site	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:180477370G>T	ENST00000327705.9	+	4	967		c.e4+1		BTNL9_ENST00000376842.3_Splice_Site|BTNL9_ENST00000376841.2_Splice_Site|BTNL9_ENST00000515271.1_Splice_Site	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9							integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGATAGCAGGTCAGTGGCTG	0.512000													16	121					3.32936e-07	3.75988e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9065057	9065057	+	Silent	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:9065057T>C	ENST00000397910.4	-	3	22592	c.22389A>G	c.(22387-22389)gaA>gaG	p.E7463E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7465	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTGACTTCAGAGGTGG	0.473000													16	87					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915554	119915554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr7:119915554G>T	ENST00000331113.4	+	1	1833	c.868G>T	c.(868-870)Gtc>Ttc	p.V290F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	290					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CGGAGCCTTTGTCACACTCCG	0.522000													10	59					2.17888e-05	2.3986e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179418691	179418691	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:179418691T>C	ENST00000589042.1	-	333	89371	c.89147A>G	c.(89146-89148)cAg>cGg	p.Q29716R	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q27148R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q28075R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q20651R|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q20843R|TTN_ENST00000359218.5_Missense_Mutation_p.Q20776R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28075	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATGGACCCTGTCCAGCAGC	0.423000													4	38					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499390	51499390	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:51499390G>A	ENST00000600767.1	-	7	1197	c.708C>T	c.(706-708)tcC>tcT	p.S236S	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Silent_p.S236S|KLK8_ENST00000391806.2_Silent_p.S281S|KLK8_ENST00000347619.4_Silent_p.S95S|KLK8_ENST00000320838.5_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	236	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CAGGTTTGTCGGACCTCCCAC	0.557000													24	159					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30033549	30033549	+	Silent	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr15:30033549T>C	ENST00000346128.6	-	10	1716	c.1242A>G	c.(1240-1242)gaA>gaG	p.E414E	TJP1_ENST00000400011.2_Silent_p.E418E|TJP1_ENST00000545208.2_Silent_p.E414E|TJP1_ENST00000356107.6_Silent_p.E414E	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	414				QPDVDLPVSPSDGVLPNSTHEDGI -> NQMWIYLSVHLMV SYLIQLMKMGF (in Ref. 1; AAA02891).	cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAATCCCATCTTCATGAGTTG	0.348000													5	11					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139091648	139091648	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr9:139091648C>T	ENST00000371746.3	-	3	463	c.345G>A	c.(343-345)gtG>gtA	p.V115V	LHX3_ENST00000371748.5_Silent_p.V110V	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	110	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCAGGTGGTACACGAAGTCCT	0.706000													4	27					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193051831	193051831	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:193051831A>T	ENST00000432079.1	+	7	1200	c.632A>T	c.(631-633)tAt>tTt	p.Y211F	TROVE2_ENST00000367443.1_Missense_Mutation_p.Y486F|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.Y486F|TROVE2_ENST00000416058.2_Missense_Mutation_p.Y211F|TROVE2_ENST00000367446.3_Missense_Mutation_p.Y486F|TROVE2_ENST00000367444.3_Missense_Mutation_p.Y486F|TROVE2_ENST00000367445.3_Missense_Mutation_p.Y486F|TROVE2_ENST00000400968.2_Missense_Mutation_p.Y486F			P10155	RO60_HUMAN	TROVE domain family, member 2	486	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CTGAGGGAGTATCGAAAGGTA	0.373000													8	56					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754989	54754989	+	Missense_Mutation	SNP	T	T	G	rs686335		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:54754989T>G	ENST00000450632.1	-	13	1723	c.1646A>C	c.(1645-1647)gAg>gCg	p.E549A	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	556					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.E549A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTTTCACCTCGGCATACGT	0.582000													3	19					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134983834	134983834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chrX:134983834G>T	ENST00000535938.1	+	3	371	c.204G>T	c.(202-204)tgG>tgT	p.W68C	SAGE1_ENST00000370709.3_Missense_Mutation_p.W68C|SAGE1_ENST00000324447.3_Missense_Mutation_p.W68C|SAGE1_ENST00000537770.1_Missense_Mutation_p.W68C	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	68								p.W68*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCCTCGTGGTTAGACAAAC	0.428000													42	40					1.41504e-22	1.7824e-22	1	1	0
PVRL1	5818	broad.mit.edu	37	11	119549228	119549228	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:119549228G>C	ENST00000264025.3	-	2	857	c.327C>G	c.(325-327)atC>atG	p.I109M	PVRL1_ENST00000341398.2_Missense_Mutation_p.I109M|PVRL1_ENST00000340882.2_Missense_Mutation_p.I109M|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	109	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGAGAGGCGGATAGTGCCAT	0.597000													11	60					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177154	89177154	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chrX:89177154C>A	ENST00000561129.2	+	1	200	c.70C>A	c.(70-72)Caa>Aaa	p.Q24K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.Q24K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	24						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGCGAAGACCCAAAGCCCAGC	0.532000													17	17					9.22233e-05	9.90267e-05	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	155553	155553	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:155553G>T	ENST00000283426.6	+	7	1185	c.1135G>T	c.(1135-1137)Gcc>Tcc	p.A379S		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	379					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCCAAGAACAGCCCAGGTGAG	0.453000													6	72					3.59834e-05	3.92818e-05	1	1	0
HYDIN	54768	broad.mit.edu	37	16	70867841	70867841	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr16:70867841G>A	ENST00000393567.2	-	79	13778	c.13628C>T	c.(13627-13629)aCg>aTg	p.T4543M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4543										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTGGCTTGCGTCTGATACAC	0.612000													14	29					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40816868	40816868	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr22:40816868G>A	ENST00000396617.3	-	10	1454	c.864C>T	c.(862-864)atC>atT	p.I288I	MKL1_ENST00000407029.1_Silent_p.I288I|MKL1_ENST00000402042.1_Silent_p.I238I|MKL1_ENST00000355630.3_Silent_p.I288I			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	288					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGCAGGCAGGATGGCCTGGT	0.647000			T	RBM15	acute megakaryocytic leukemia								4	45					0	0	1	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524428	154524428	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:154524428C>A	ENST00000292211.4	-	9	1073	c.994G>T	c.(994-996)Gtc>Ttc	p.V332F		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	332							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAACCCTGACAAATGGTGGG	0.572000													7	102					0.0293803	0.0298358	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121658370	121658370	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr10:121658370C>T	ENST00000369075.3	+	2	667	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	199	Interaction with SEC23A.|Pro-rich.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CATTGCACCACCCCAGCTGCA	0.547000													15	106					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471836	47471836	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:47471836G>A	ENST00000266581.4	-	2	1416	c.950C>T	c.(949-951)gCa>gTa	p.A317V	AMIGO2_ENST00000321382.3_Missense_Mutation_p.A317V|AMIGO2_ENST00000550413.1_Missense_Mutation_p.A317V|AMIGO2_ENST00000429635.1_Missense_Mutation_p.A317V	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	317	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ATCCGTATTTGCATTACCTGT	0.458000													28	114					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023017	18023017	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:18023017G>A	ENST00000205890.5	+	2	1241	c.903G>A	c.(901-903)ccG>ccA	p.P301P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	301	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTTTGATCCGGGGTACACCT	0.637000													34	67					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315711	125315711	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr9:125315711C>A	ENST00000373688.2	+	1	321	c.263C>A	c.(262-264)gCc>gAc	p.A88D		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTAACTGATGCCTGTTTCACT	0.493000													39	222					1.03484e-13	1.2789e-13	1	1	0
NUAK1	9891	broad.mit.edu	37	12	106461476	106461476	+	Missense_Mutation	SNP	G	G	A	rs147705634	byFrequency	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:106461476G>A	ENST00000261402.2	-	7	2469	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	364							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R364W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GACCGCTGCCGCTCTAGCATG	0.547000													22	79					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677568	32677568	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr20:32677568T>C	ENST00000374980.2	-	9	1191	c.970A>G	c.(970-972)Aag>Gag	p.K324E		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	324						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TGTGCTCGCTTGCCCGTGACA	0.488000													17	91					0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147220	33147220	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr20:33147220G>C	ENST00000360668.3	+	3	927	c.166G>C	c.(166-168)Gac>Cac	p.D56H	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.D56H|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.D60H|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	56					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TTTGGTCCCGGACCATGTCAA	0.657000													5	27					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43803785	43803785	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:43803785C>T	ENST00000372470.3	+	2	137	c.95C>T	c.(94-96)gCa>gTa	p.A32V	MPL_ENST00000413998.2_Missense_Mutation_p.A32V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	32					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCTTGCTGGCATCAGACTCA	0.567000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						7	67					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740627	151740627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:151740627G>T	ENST00000321531.5	+	4	429	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000315067.8_Missense_Mutation_p.A88S|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000453029.2_Missense_Mutation_p.A101S			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	85					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CCAGACCTCTGCCCATTGGCA	0.567000													30	62					7.01153e-11	8.50473e-11	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140235732	140235732	+	Silent	SNP	A	A	C	rs142037616	byFrequency	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:140235732A>C	ENST00000307360.5	+	1	99	c.99A>C	c.(97-99)tcA>tcC	p.S33S	PCDHA10_ENST00000506939.2_Silent_p.S33S|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTACTCAGTCTACGAGG	0.662000													16	72					0	0	1	0	0
SEPHS1	22929	broad.mit.edu	37	10	13378281	13378281	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr10:13378281G>A	ENST00000327347.5	-	4	742	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	SEPHS1_ENST00000537130.1_Silent_p.L56L|SEPHS1_ENST00000545675.1_Silent_p.L123L|SEPHS1_ENST00000378614.4_Silent_p.L123L	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	123					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGGAGCATCAGCATATTGTCA	0.542000													8	49					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	131781444	131781444	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr11:131781444C>T	ENST00000374786.1	+	1	548	c.69C>T	c.(67-69)ttC>ttT	p.F23F	NTM_ENST00000425719.2_Silent_p.F23F|NTM_ENST00000539799.1_Intron|NTM_ENST00000374791.3_Intron|NTM_ENST00000427481.2_Intron|NTM_ENST00000374784.1_Silent_p.F23F	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	23					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGCTGCTGTTCCTTGTACCCA	0.632000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	70					0	0	1	0	0
ACTRT3	84517	broad.mit.edu	37	3	169485453	169485453	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr3:169485453G>A	ENST00000330368.2	-	2	1260	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F		NM_032487.4	NP_115876.3	Q9BYD9	ARPM1_HUMAN	actin-related protein T3	296						cytoplasm|cytoskeleton											CCCCCGGCAAGGATAATATTG	0.458000													56	63					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600429	54600429	+	Silent	SNP	A	A	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:54600429A>T	ENST00000284648.6	-	4	290	c.93T>A	c.(91-93)ccT>ccA	p.P31P	OSCAR_ENST00000358375.4_Silent_p.P31P|OSCAR_ENST00000351806.4_Silent_p.P20P|OSCAR_ENST00000359649.4_Silent_p.P35P|OSCAR_ENST00000391761.1_Silent_p.P20P|OSCAR_ENST00000356532.3_Silent_p.P35P|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	31	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCCATGGCTTAGGGTGGTATG	0.602000													5	76					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs142039862	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662000													3	26					0.115264	0.116151	1	1	0
CD52	1043	broad.mit.edu	37	1	26644516	26644516	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:26644516G>A	ENST00000374213.2	+	1	69	c.8G>A	c.(7-9)cGc>cAc	p.R3H	UBXN11_ENST00000374222.1_Intron|CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_Intron	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	3					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	AAAATGAAGCGCTTCCTCTTC	0.517000													37	28					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39660257	39660257	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:39660257C>T	ENST00000599386.1	+	3	245	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	PAK4_ENST00000358301.3_Missense_Mutation_p.H22Y|PAK4_ENST00000435673.2_Missense_Mutation_p.H22Y|PAK4_ENST00000599470.1_Missense_Mutation_p.H22Y|PAK4_ENST00000593690.1_Missense_Mutation_p.H22Y|PAK4_ENST00000321944.4_Missense_Mutation_p.H22Y|PAK4_ENST00000360442.3_Missense_Mutation_p.H22Y	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	22	CRIB.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCACCGCGTGCACACGGGCTT	0.677000													15	83					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203186240	203186240	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:203186240C>T	ENST00000367229.1	-	11	1212	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.G384D|CHIT1_ENST00000255427.3_Missense_Mutation_p.G374D	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	393					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTCTGGGGTGCCTGAAGGCAA	0.572000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	54					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	42					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979089	102979089	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chrX:102979089C>G	ENST00000372617.4	-	4	831	c.411G>C	c.(409-411)gaG>gaC	p.E137D		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	137						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGCCCCTTTCTCATTAGCAA	0.522000													36	77					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52797631	52797631	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:52797631C>T	ENST00000257974.2	-	2	551	c.474G>A	c.(472-474)caG>caA	p.Q158Q		NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	158	Linker 1.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GGCAGCACCTCTGCTGCTGCA	0.577000													6	54					0	0	1	0	0
ZNF322	79692	broad.mit.edu	37	6	26638438	26638438	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:26638438G>A	ENST00000415922.2	-	4	989	c.344C>T	c.(343-345)tCa>tTa	p.S115L	ZNF322_ENST00000471278.1_Missense_Mutation_p.S115L	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN	zinc finger protein 322	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding										CTGATGTCCTGAAAGCGCTAA	0.413000													25	185					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226409	9226409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:9226409C>A	ENST00000293614.1	-	1	30	c.31G>T	c.(31-33)Gaa>Taa	p.E11*	OR7G1_ENST00000541538.1_Nonsense_Mutation_p.E11*			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						AGAAGAAATTCTGAAACAGCT	0.438000													11	82					1.08611e-07	1.24807e-07	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166012288	166012288	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:166012288T>C	ENST00000360093.3	-	10	1648	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	SCN3A_ENST00000283254.7_Missense_Mutation_p.E386G|SCN3A_ENST00000409101.3_Missense_Mutation_p.E386G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	386						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTAAAGATTTTCCCAGTAGTC	0.428000													18	58					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555068	178555068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:178555068G>T	ENST00000251582.7	-	17	2610	c.2509C>A	c.(2509-2511)Cat>Aat	p.H837N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	837	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGTCCTCATGGATCATGTAT	0.572000													9	113					3.09899e-07	3.53015e-07	1	1	0
LRRIQ3	127255	broad.mit.edu	37	1	74507264	74507264	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr1:74507264C>T	ENST00000354431.4	-	7	1542	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E451K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	451										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTAACTCTTTCTCGAGCAACT	0.323000													10	50					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67014665	67014665	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:67014665C>T	ENST00000340001.4	-	20	2867	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ABCA9_ENST00000453985.2_Missense_Mutation_p.E886K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E886K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	886					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGATATGACTCGTAGAATAGA	0.368000													30	177					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118766202	118766202	+	Silent	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:118766202G>C	ENST00000376300.2	-	2	212	c.75C>G	c.(73-75)gtC>gtG	p.V25V	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Silent_p.V25V	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	25										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGTCAACTTGACATTTTGTT	0.388000											OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	66					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224661	2224661	+	Silent	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:2224661G>A	ENST00000399655.1	+	2	586	c.321G>A	c.(319-321)ctG>ctA	p.L107L	CACNA1C_ENST00000399621.1_Silent_p.L107L|CACNA1C_ENST00000480911.1_Silent_p.L107L|CACNA1C_ENST00000344100.3_Silent_p.L107L|CACNA1C_ENST00000399617.1_Silent_p.L107L|CACNA1C_ENST00000399629.1_Silent_p.L107L|CACNA1C_ENST00000399641.1_Silent_p.L107L|CACNA1C_ENST00000399606.1_Silent_p.L107L|CACNA1C_ENST00000399634.1_Silent_p.L107L|CACNA1C_ENST00000399637.1_Silent_p.L107L|CACNA1C_ENST00000399649.1_Silent_p.L107L|CACNA1C_ENST00000399597.1_Silent_p.L107L|CACNA1C_ENST00000399638.1_Silent_p.L107L|CACNA1C_ENST00000327702.7_Silent_p.L107L|CACNA1C_ENST00000406454.3_Silent_p.L107L|CACNA1C_ENST00000399591.1_Silent_p.L107L|CACNA1C_ENST00000399595.1_Silent_p.L107L|CACNA1C_ENST00000335762.5_Silent_p.L107L|CACNA1C_ENST00000399601.1_Silent_p.L107L|CACNA1C_ENST00000402845.3_Silent_p.L107L|CACNA1C_ENST00000399603.1_Silent_p.L107L|CACNA1C_ENST00000347598.4_Silent_p.L107L|CACNA1C_ENST00000399644.1_Silent_p.L107L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	107					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGCTCTGCCTGACCCTGAAGA	0.632000													5	55					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580112	82580112	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr7:82580112C>T	ENST00000423517.2	-	6	10129	c.9792G>A	c.(9790-9792)aaG>aaA	p.K3264K	PCLO_ENST00000333891.8_Silent_p.K3264K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3195					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGGTGTTGCTTCATAGACT	0.468000													25	142					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr5:140783915G>A	ENST00000573521.1	+	1	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468000													4	54					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985314	42985314	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr6:42985314C>G	ENST00000326974.4	+	3	407	c.212C>G	c.(211-213)cCt>cGt	p.P71R	KLHDC3_ENST00000332245.8_Intron|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	71					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCAAGCTCCTGTGGTACCC	0.617000													9	87					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44049267	44049267	+	Missense_Mutation	SNP	C	C	T	rs143138715		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:44049267C>T	ENST00000344290.5	+	3	498	c.176C>T	c.(175-177)cCg>cTg	p.P59L	MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.P59L|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000420682.2_Missense_Mutation_p.P59L|MAPT_ENST00000415613.2_Missense_Mutation_p.P59L|MAPT_ENST00000571987.1_Missense_Mutation_p.P59L|MAPT_ENST00000351559.5_Missense_Mutation_p.P59L|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.P59L|MAPT_ENST00000574436.1_Missense_Mutation_p.P59L|MAPT_ENST00000431008.3_Missense_Mutation_p.P59L|MAPT_ENST00000340799.5_Missense_Mutation_p.P59L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	59					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCTGAGGAACCGGGCTCTGAA	0.612000													7	40					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478833	56478833	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr12:56478833C>G	ENST00000267101.3	+	3	729	c.289C>G	c.(289-291)Cta>Gta	p.L97V	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.L38V|ERBB3_ENST00000411731.2_Missense_Mutation_p.L97V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	97					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATTCTCTACTCTACCATTGCC	0.498000													8	102					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003188	52003188	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:52003188G>C	ENST00000291707.3	-	2	849	c.794C>G	c.(793-795)tCt>tGt	p.S265C	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S147C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	265	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACATGCACAGAGAGCTTGTC	0.572000													19	67					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27128618	27128618	+	Silent	SNP	C	C	T			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr15:27128618C>T	ENST00000335625.5	+	6	1299	c.411C>T	c.(409-411)aaC>aaT	p.N137N	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Silent_p.N137N|GABRA5_ENST00000400081.3_Silent_p.N137N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	137					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTCCACAACGGGAAGAAGT	0.602000													9	51					0	0	1	0	0
AC073321.4	0	broad.mit.edu	37	2	217474994	217474994	+	RNA	DEL	T	T	-	rs71401155		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr2:217474994delT	ENST00000441803.1	+	0	195																											tctttctttcttttttttttt	0.393													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													4	4	---	---	---	---					
SLC7A8	23428	broad.mit.edu	37	14	23652095	23652107	+	Frame_Shift_Del	DEL	TTGTTTCGGTGCC	TTGTTTCGGTGCC	-	rs141772308	byFrequency	TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr14:23652095_23652107delTTGTTTCGGTGCC	ENST00000316902.7	-	1	742_754	c.17_29delGGCACCGAAACAA	c.(16-30)acfs	p.RHRNN6fs	SLC7A8_ENST00000469263.1_Frame_Shift_Del_p.RHRNN6fs	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	6					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTTTTCGGTGTTGTTTCGGTGCCTGGCTCCTTC	0.535													11	199	---	---	---	---					
LOC146880	146880	broad.mit.edu	37	17	62750914	62750914	+	RNA	DEL	T	T	-			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr17:62750914delT	ENST00000400873.3	-	0	1841					NR_026899.1																						CTGATTATGCttttttttttg	0.433													2	4	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1207064	1207065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:1207064_1207065insG	ENST00000326873.7	+	1	1325_1326	c.152_153insG	c.(151-153)aggfs	p.R51fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	51	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.D53fs*11(1)|p.L50_D53del(1)|p.M51fs*14(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACCTGATGGGGGACCTGC	0.604		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			24	22	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10610187	10610187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr19:10610187delG	ENST00000171111.5	-	2	1070	c.523delC	c.(523-525)tgfs	p.L175fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.L175fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TGCTGCACCAGGAAGTCACTG	0.592													27	30	---	---	---	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chr20:23345921_23345923delGAG	ENST00000338121.5	+	2	978_980	c.901_903delGAG	c.(901-903)del	p.E306del	GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													10	109	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-44-A47F-01A-11D-A24D-08	TCGA-44-A47F-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e78217fa-166b-4618-9662-2ebefe40f513	00146b33-a00e-4906-b3b2-e08fdf39edcd	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			2	4	---	---	---	---