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
KIF22	3835	broad.mit.edu	37	16	29809711	29809711	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr16:29809711G>C	ENST00000561482.1	+	3	716	c.79G>C	c.(79-81)Ggg>Cgg	p.G27R	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.G27R|KIF22_ENST00000569382.2_Missense_Mutation_p.G27R|KIF22_ENST00000160827.4_Missense_Mutation_p.G95R	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	95					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	p.G95R(1)		endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TGCCTTCTATGGGGAGAGGAG	0.532000													3	90					0	0	0.004672	0	0
SELP	6403	broad.mit.edu	37	1	169564029	169564029	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:169564029A>G	ENST00000263686.6	-	13	2225	c.2188T>C	c.(2188-2190)Tgc>Cgc	p.C730R	SELP_ENST00000367786.2_Missense_Mutation_p.C668R|SELP_ENST00000367788.2_Missense_Mutation_p.C668R|SELP_ENST00000367794.2_Missense_Mutation_p.C668R|SELP_ENST00000367791.2_Missense_Mutation_p.C544R|SELP_ENST00000367793.2_Missense_Mutation_p.C668R|SELP_ENST00000458599.2_Missense_Mutation_p.C546R|SELP_ENST00000367792.2_Missense_Mutation_p.C546R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	730	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.C730R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGGAAAGAGCAGATTGATCCA	0.463000													9	105					0	0	0.004482	0	0
FRY	10129	broad.mit.edu	37	13	32868709	32868709	+	Splice_Site	SNP	T	T	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr13:32868709T>G	ENST00000380250.3	+	60	9279		c.e60+2		FRY_ENST00000380217.1_Splice_Site|FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.?(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAGTGCAGGTGACTCTGCTA	0.512000													12	20					0	0	0.003163	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	45					0	0	0.009096	0	0
HSPA9	3313	broad.mit.edu	37	5	137892191	137892191	+	Missense_Mutation	SNP	A	A	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr5:137892191A>T	ENST00000297185.3	-	16	2037	c.1912T>A	c.(1912-1914)Tcc>Acc	p.S638T	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	638					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.S638T(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAAGAGAGGATGCTGCCTGT	0.418000													5	256					0	0	0.014758	0	0
TOB1	10140	broad.mit.edu	37	17	48940623	48940623	+	Silent	SNP	T	T	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr17:48940623T>C	ENST00000499247.2	-	2	1189	c.756A>G	c.(754-756)ccA>ccG	p.P252P	TOB1_ENST00000268957.3_Silent_p.P252P	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	252	Poly-Pro.				negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.P252P(2)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			gtggtggtggtggcggtggcg	0.522000													3	22					0	0	0.004672	0	0
CAGE1	285782	broad.mit.edu	37	6	7370201	7370201	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr6:7370201G>T	ENST00000502583.1	-	6	2408	c.1844C>A	c.(1843-1845)tCc>tAc	p.S615Y	CAGE1_ENST00000512086.1_Missense_Mutation_p.S615Y|CAGE1_ENST00000296742.7_Missense_Mutation_p.S479Y|CAGE1_ENST00000338150.4_Missense_Mutation_p.S615Y|CAGE1_ENST00000379918.4_Missense_Mutation_p.S615Y	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	615								p.S615Y(2)|p.S479Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTGCATTTTGGAGGCCAGCTG	0.418000													18	28					6.94344e-10	8.93968e-10	0.006122	1	0
SLCO4A1	28231	broad.mit.edu	37	20	61299189	61299189	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr20:61299189A>G	ENST00000217159.1	+	8	1770	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.D522G	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	522	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.D522G(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGCGGCTCGGACGGCCTCATG	0.657000													30	90					0	0	0.010818	0	0
OR2T1	26696	broad.mit.edu	37	1	248569685	248569685	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:248569685G>T	ENST00000366474.1	+	1	390	c.390G>T	c.(388-390)aaG>aaT	p.K130N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K130N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGTGCCTAAGATGCTGGTTA	0.453000													40	235					1.35964e-18	1.79542e-18	0.014410	1	0
BAGE2	85319	broad.mit.edu	37	21	11097627	11097627	+	RNA	SNP	G	G	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr21:11097627G>C	ENST00000470054.1	-	0	242									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gagcagctgggcagacaatgc	0.557000													3	36					0	0	0.004672	0	0
CBX4	8535	broad.mit.edu	37	17	77807808	77807808	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr17:77807808C>T	ENST00000269397.4	-	5	1810	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	545	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.V545I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCGCGGTGACGTCGGTGATA	0.627000													9	30					0	0	0.008291	0	0
NEDD4	4734	broad.mit.edu	37	15	56141027	56141027	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr15:56141027A>C	ENST00000508342.1	-	11	2961	c.2662T>G	c.(2662-2664)Tcc>Gcc	p.S888A	NEDD4_ENST00000435532.3_Missense_Mutation_p.S469A|NEDD4_ENST00000506154.1_Missense_Mutation_p.S872A|NEDD4_ENST00000338963.2_Missense_Mutation_p.S816A			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	888	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	p.S816A(1)|p.S469A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGATCATTGGAAGTATCAAGT	0.338000													53	55					0	0	0.014410	0	0
ALMS1	7840	broad.mit.edu	37	2	73746982	73746982	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr2:73746982A>G	ENST00000264448.6	+	11	9728	c.9617A>G	c.(9616-9618)gAa>gGa	p.E3206G	ALMS1_ENST00000409009.1_Missense_Mutation_p.E3164G	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3206					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E3206G(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAACAACAGAAAGTCCAGAA	0.383000													3	76					0	0	0.004672	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138805	32138805	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr12:32138805C>T	ENST00000312561.4	+	4	5330	c.4916C>T	c.(4915-4917)cCa>cTa	p.P1639L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.P1639V(1)									AAATTATGTCCAGATATCTTA	0.378000													9	33					0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8521531	8521531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr9:8521531G>T	ENST00000381196.4	-	17	1250	c.707C>A	c.(706-708)cCa>cAa	p.P236Q	PTPRD_ENST00000537002.1_Missense_Mutation_p.P233Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.P226Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.P236Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.P226Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.P223Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.P223Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.P236Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.P233Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.P236Q|PTPRD_ENST00000540109.1_Missense_Mutation_p.P236Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	236	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P236Q(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGAGAATCTTGGTGGGACACG	0.448000										TSP Lung(15;0.13)			5	43					3.59834e-05	4.36034e-05	0.001168	1	0
SRCAP	10847	broad.mit.edu	37	16	30736029	30736029	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr16:30736029C>T	ENST00000262518.4	+	25	5669	c.5284C>T	c.(5284-5286)Cca>Tca	p.P1762S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1700S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1604S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1762	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P1762S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCAGTGGGcccagccccagc	0.622000													15	12					0	0	0.004007	0	0
DLK1	8788	broad.mit.edu	37	14	101200790	101200790	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr14:101200790C>A	ENST00000341267.4	+	5	951	c.709C>A	c.(709-711)Ccc>Acc	p.P237T	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	237	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.P237T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTGTGCAAGCCCGAGTTCAC	0.682000													28	22					1.2476e-16	1.62662e-16	0.006320	1	0
GAL3ST3	89792	broad.mit.edu	37	11	65811095	65811095	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:65811095C>T	ENST00000312006.4	-	3	460	c.179G>A	c.(178-180)cGc>cAc	p.R60H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R60H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	60					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.R60H(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						GTGCTTGGGGCGCGGCGGCGA	0.647000													7	10					0	0	0.004482	0	0
CYP17A1	1586	broad.mit.edu	37	10	104597001	104597001	+	Silent	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr10:104597001G>A	ENST00000369887.3	-	1	289	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	40					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.L40L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AGGAATGGCAGGCTGCCCACC	0.532000													3	78					0	0	0.004672	0	0
PASD1	139135	broad.mit.edu	37	X	150842574	150842574	+	Silent	SNP	T	T	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:150842574T>A	ENST00000370357.4	+	15	2336	c.2091T>A	c.(2089-2091)tcT>tcA	p.S697S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	697						nucleus	signal transducer activity	p.S697S(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGTTGTCTGATTCACTCG	0.532000													22	104					0	0	0.012319	0	0
BTD	686	broad.mit.edu	37	3	15686794	15686794	+	Silent	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr3:15686794G>A	ENST00000383778.4	+	4	1729	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	BTD_ENST00000449107.1_Silent_p.E479E|BTD_ENST00000437172.1_Silent_p.E479E|BTD_ENST00000303498.5_Silent_p.E477E			P43251	BTD_HUMAN	biotinidase	477					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	p.E477E(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						AAATCACAGAGGCCACGGGGA	0.512000													44	2					0	0	0.010771	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100386	27100386	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr6:27100386C>G	ENST00000607124.1	-	1	143	c.144G>C	c.(142-144)caG>caC	p.Q48H	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.Q48H|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.Q48H			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	48					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q48H(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CAGGGTGGACCTGCTTCAGAA	0.552000													25	221					0	0	0.009535	0	0
PROP1	5626	broad.mit.edu	37	5	177422865	177422865	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr5:177422865C>G	ENST00000308304.2	-	1	378	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	24					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E24Q(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGTCTCTCAGGCAACAGG	0.652000													14	13					0	0	0.018920	0	0
DOCK8	81704	broad.mit.edu	37	9	340238	340238	+	Silent	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr9:340238C>G	ENST00000432829.2	+	14	1708	c.1392C>G	c.(1390-1392)ccC>ccG	p.P464P	DOCK8_ENST00000469391.1_Silent_p.P464P|DOCK8_ENST00000453981.1_Silent_p.P532P	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	532	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.P532P(1)|p.P464P(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CCGTGAAACCCTTTCCTGAAA	0.453000													13	80					0	0	0.003163	0	0
DSG4	147409	broad.mit.edu	37	18	28993383	28993383	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr18:28993383C>T	ENST00000359747.4	+	15	3034	c.3005C>T	c.(3004-3006)aCt>aTt	p.T1002I	DSG4_ENST00000308128.4_Missense_Mutation_p.T983I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	983					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.T1002I(1)|p.T983I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTAGCACGACTGAGGGTTGT	0.458000													89	5					0	0	0.014410	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42852432	42852432	+	Silent	SNP	C	C	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr21:42852432C>A	ENST00000398585.3	-	6	714	c.654G>T	c.(652-654)ggG>ggT	p.G218G	TMPRSS2_ENST00000458356.1_Silent_p.G181G|TMPRSS2_ENST00000332149.5_Silent_p.G181G	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	181	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.G181G(2)|p.G218G(1)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AGGCCGCCCGCCCGTAGTTCT	0.572000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								17	20					4.7546e-09	6.04598e-09	0.004007	1	0
MRPS15	64960	broad.mit.edu	37	1	36923551	36923551	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:36923551A>T	ENST00000373116.5	-	6	578	c.417T>A	c.(415-417)taT>taA	p.Y139*	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	139					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	p.Y139*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGTTCTTCATAACTGCGGA	0.517000													77	104					0	0	0.014410	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059758	152059758	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:152059758G>T	ENST00000368806.1	-	3	464	c.400C>A	c.(400-402)Ctt>Att	p.L134I		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	134							calcium ion binding	p.L134I(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGAAGGAAGCATCCTCTTT	0.478000													5	145					2.7689e-08	3.478e-08	0.001984	1	0
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	by1000genomes	TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637000													4	71					0	0	0.001984	0	0
MUC5B	727897	broad.mit.edu	37	11	1262717	1262717	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:1262717C>T	ENST00000447027.1	+	31	4674	c.4616C>T	c.(4615-4617)gCt>gTt	p.A1539V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A1536V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1536	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.A1536V(1)|p.A1539V(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCAGGGCCGCTGGAGGGCAC	0.587000													5	19					0	0	0.014758	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													3	39					0	0	0.004672	0	0
EGFR	1956	broad.mit.edu	37	7	55259439	55259439	+	Missense_Mutation	SNP	T	T	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:55259439T>G	ENST00000275493.2	+	21	2674	c.2497T>G	c.(2497-2499)Ttg>Gtg	p.L833V	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L788V|EGFR_ENST00000454757.2_Missense_Mutation_p.L780V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	833	Protein kinase.		L -> V (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L833V(16)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGACCGTCGCTTGGTGCACCG	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			303	25					0	0	0.014410	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483790	6483790	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr12:6483790A>C	ENST00000358945.3	-	1	600	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	SCNN1A_ENST00000228916.2_Missense_Mutation_p.S54A|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S113A|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S77A|SCNN1A_ENST00000396966.2_Missense_Mutation_p.S54A			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	54					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	p.S54A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCTCGGTAGGAGCGGTGGAAC	0.652000													7	24					0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155200026	155200026	+	Silent	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr3:155200026C>T	ENST00000460012.1	-	23	4056	c.3699G>A	c.(3697-3699)acG>acA	p.T1233T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1233T|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468000													30	124					0	0	0.009535	0	0
GATS	352954	broad.mit.edu	37	7	99821621	99821621	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:99821621A>C	ENST00000436886.2	-	3	543	c.295T>G	c.(295-297)Ttc>Gtc	p.F99V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		99								p.F99V(1)		endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGAGAAGCTGCCACCG	0.607000													7	64					0	0	0.001984	0	0
GNL3L	54552	broad.mit.edu	37	X	54578810	54578810	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:54578810G>A	ENST00000336470.4	+	13	1406	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	GNL3L_ENST00000360845.2_Missense_Mutation_p.E423K	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	423					ribosome biogenesis	nucleolus	GTP binding	p.E423K(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GGAAATGACCGAGGTCTTTGA	0.527000													20	95					0	0	0.014323	0	0
DDX4	54514	broad.mit.edu	37	5	55088620	55088620	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr5:55088620C>T	ENST00000505374.1	+	17	1546	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	DDX4_ENST00000514278.2_Missense_Mutation_p.P465L|DDX4_ENST00000511853.1_Missense_Mutation_p.P336L|DDX4_ENST00000354991.5_Missense_Mutation_p.P451L|DDX4_ENST00000353507.5_Missense_Mutation_p.P451L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	485	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P336L(1)|p.P485L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCAACTTTTCCAGAGGAAATT	0.318000													17	69					0	0	0.006122	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	189					0	0	0.009096	0	0
CCDC106	29903	broad.mit.edu	37	19	56164048	56164048	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr19:56164048A>G	ENST00000586790.1	+	5	1683	c.779A>G	c.(778-780)aAg>aGg	p.K260R	CCDC106_ENST00000308964.3_Missense_Mutation_p.K260R|CCDC106_ENST00000591241.1_Missense_Mutation_p.K225R|CCDC106_ENST00000591578.1_Missense_Mutation_p.K260R|CCDC106_ENST00000588740.1_Missense_Mutation_p.K260R			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	260						nucleus		p.K260R(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GAGACGCTCAAGAAGGTGCAG	0.667000													6	29					0	0	0.003080	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433139	72433139	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:72433139C>T	ENST00000373517.3	-	1	1545	c.1190G>A	c.(1189-1191)cGt>cAt	p.R397H	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R255H	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	397					nucleosome assembly	chromatin assembly complex		p.R397H(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TATGTAAGTACGTAAATTGTG	0.358000													6	70					0	0	0.001168	0	0
USP51	158880	broad.mit.edu	37	X	55513806	55513806	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:55513806C>T	ENST00000500968.3	-	2	1649	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	523					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.A523T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCGAATGTGGCACAAGAGCCA	0.522000													11	24					0	0	0.010729	0	0
TPI1	7167	broad.mit.edu	37	12	6978046	6978046	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr12:6978046C>T	ENST00000229270.4	+	2	582	c.245C>T	c.(244-246)cCt>cTt	p.P82L	TPI1_ENST00000535434.1_5'UTR|TPI1_ENST00000396705.5_Missense_Mutation_p.P45L|TPI1_ENST00000488464.2_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	45					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.P82L(1)|p.P45L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TGTGCTCCCCCTACTGCCTAT	0.532000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	3					0	0	0.003080	0	0
COBL	23242	broad.mit.edu	37	7	51258724	51258724	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:51258724G>A	ENST00000395542.2	-	4	692	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	COBL_ENST00000441453.1_Missense_Mutation_p.R170C|COBL_ENST00000395540.2_Missense_Mutation_p.R170C|COBL_ENST00000265136.7_Missense_Mutation_p.R170C			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	170								p.R170C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGGCTCACACGCACAACAGCT	0.483000													5	61					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100681373	100681373	+	Missense_Mutation	SNP	C	C	A	rs144624588		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:100681373C>A	ENST00000306151.4	+	3	6740	c.6676C>A	c.(6676-6678)Cct>Act	p.P2226T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2226	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2226T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACAAGTATGCCTGTCAGCAC	0.502000													14	290					0.00185496	0.00217114	0.016723	1	0
PAK6	56924	broad.mit.edu	37	15	40558063	40558063	+	Silent	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr15:40558063G>A	ENST00000455577.2	+	5	1137	c.225G>A	c.(223-225)gcG>gcA	p.A75A	PAK6_ENST00000453867.1_Silent_p.A75A|PAK6_ENST00000560346.1_Silent_p.A75A|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000542403.2_Silent_p.A75A|PAK6_ENST00000441369.1_Silent_p.A75A|PAK6_ENST00000260404.4_Silent_p.A75A	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	75	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.A75A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGGGCAGCGCGATGCCTGTGG	0.622000													3	9					0	0	0.009096	0	0
YLPM1	56252	broad.mit.edu	37	14	75265095	75265095	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr14:75265095G>A	ENST00000325680.7	+	5	3219	c.3095G>A	c.(3094-3096)cGg>cAg	p.R1032Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.R837Q|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	837	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R837Q(1)|p.R1032Q(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAGACACACGGGATAAAGGT	0.493000													23	77					0	0	0.012319	0	0
ASAP3	55616	broad.mit.edu	37	1	23763945	23763945	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:23763945G>T	ENST00000336689.3	-	13	1167	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.Q366K	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	375	PH.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	p.Q375K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCCTCTGCCTGAAAGTGGTAC	0.667000													8	66					3.86212e-05	4.62556e-05	0.008291	1	0
RASGEF1C	255426	broad.mit.edu	37	5	179545863	179545863	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr5:179545863C>T	ENST00000393371.2	-	8	1207	c.911G>A	c.(910-912)gGc>gAc	p.G304D	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G304D|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G153D|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	304	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	p.G304D(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATGTTCATGCCGGCTGGAAG	0.627000													4	69					0	0	0.009096	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													3	39					0	0	0.004672	0	0
OR1L1	26737	broad.mit.edu	37	9	125424498	125424498	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr9:125424498C>A	ENST00000373686.1	+	1	654	c.654C>A	c.(652-654)ttC>ttA	p.F218L				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F218L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGCTCATCTTCTGTGCCTCAA	0.428000													103	142					2.94851e-48	3.94411e-48	0.014410	1	0
BCAS1	8537	broad.mit.edu	37	20	52645352	52645352	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr20:52645352C>T	ENST00000395961.3	-	4	468	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	BCAS1_ENST00000371435.2_Missense_Mutation_p.R101Q|BCAS1_ENST00000371440.3_Missense_Mutation_p.R101Q|BCAS1_ENST00000411563.1_Missense_Mutation_p.R4Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	101						cytoplasm	protein binding	p.R101Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGGTACAGGCCGAGAGAGCAT	0.512000													17	106					0	0	0.004990	0	0
FANCM	57697	broad.mit.edu	37	14	45642257	45642257	+	Splice_Site	SNP	G	G	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr14:45642257G>C	ENST00000267430.5	+	13	2245		c.e13-1		FANCM_ENST00000542564.2_Splice_Site	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAATAATTAAGGCTCAAGAAT	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	92					0	0	0.004482	0	0
H3F3B	3021	broad.mit.edu	37	17	73774708	73774708	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr17:73774708A>C	ENST00000254810.4	-	4	511	c.379T>G	c.(379-381)Ttg>Gtg	p.L127V	H3F3B_ENST00000586607.1_Missense_Mutation_p.L127V|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000589599.1_Missense_Mutation_p.L127V|H3F3B_ENST00000592643.1_Missense_Mutation_p.S102R|H3F3B_ENST00000587560.1_Missense_Mutation_p.L127V	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	127					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.L127V(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCGAGCCAACTGGATGTCT	0.463000													6	134					0	0	0.001984	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271322	26271322	+	Silent	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr6:26271322G>A	ENST00000305910.3	-	1	290	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	97					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.C97C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						AGTAGGCCTCGCAGGCCTCCT	0.572000													11	97					0	0	0.010729	0	0
MYCBP2	23077	broad.mit.edu	37	13	77655572	77655572	+	Missense_Mutation	SNP	C	C	T	rs150342167		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr13:77655572C>T	ENST00000407578.2	-	65	11674	c.11408G>A	c.(11407-11409)cGa>cAa	p.R3803Q	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3765Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3765Q|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3765	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3765Q(1)|p.R3803Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCCAAGATCTCGGGAATTGTC	0.383000													31	329					0	0	0.021022	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138804	32138804	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr12:32138804C>G	ENST00000312561.4	+	4	5329	c.4915C>G	c.(4915-4917)Cca>Gca	p.P1639A	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.P1639V(1)									TAAATTATGTCCAGATATCTT	0.383000													9	36					0	0	0.008291	0	0
CSMD2	114784	broad.mit.edu	37	1	34049273	34049273	+	Silent	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:34049273C>T	ENST00000373381.4	-	47	7385	c.7209G>A	c.(7207-7209)gaG>gaA	p.E2403E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2405	CUB 14.					integral to membrane|plasma membrane	protein binding	p.E2405E(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATATTGCTTCTCGCTGAGGA	0.502000													117	73					0	0	0.014410	0	0
OR2M5	127059	broad.mit.edu	37	1	248308638	248308638	+	Silent	SNP	C	C	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:248308638C>A	ENST00000366476.1	+	1	189	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTTCCTCCTCAGTCAACTGT	0.517000													8	394					0.00621372	0.00719115	0.006214	1	0
FAM66D	100132923	broad.mit.edu	37	8	11986451	11986451	+	RNA	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr8:11986451C>T	ENST00000434078.2	+	0	608					NR_027425.1																						GCACTTGGGACGATGACACAT	0.557000													3	9					0	0	0.004672	0	0
PTPN9	5780	broad.mit.edu	37	15	75798092	75798092	+	Silent	SNP	T	T	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr15:75798092T>G	ENST00000306726.2	-	7	1404	c.892A>C	c.(892-894)Agg>Cgg	p.R298R	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	298						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.R298P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTTTGCCTGGCATTAACA	0.478000													14	68					0	0	0.003163	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													12	45					0	0	0.013537	0	0
GPR98	84059	broad.mit.edu	37	5	90106986	90106986	+	Silent	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr5:90106986C>T	ENST00000405460.2	+	74	16005	c.15909C>T	c.(15907-15909)ttC>ttT	p.F5303F	GPR98_ENST00000425867.2_Silent_p.F964F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5303	Calx-beta 34.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F5303F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCCTTATATTCCTAGATGGAG	0.408000													19	14					0	0	0.007413	0	0
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr13:53422137G>A	ENST00000377942.3	-	1	638	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_ENST00000338862.4_Silent_p.S145S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	145	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.S145S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711000													11	45					0	0	0.013537	0	0
LMO2	4005	broad.mit.edu	37	11	33880984	33880984	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:33880984C>G	ENST00000257818.2	-	6	1431	c.602G>C	c.(601-603)gGt>gCt	p.G201A	LMO2_ENST00000395833.3_Missense_Mutation_p.G132A	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	132					multicellular organismal development	nucleus	protein binding|zinc ion binding	p.G132A(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTATCTGTCACCTACACAGAA	0.488000			T	TRD@	T-ALL								38	13					0	0	0.006999	0	0
CD1A	909	broad.mit.edu	37	1	158224874	158224874	+	Splice_Site	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:158224874G>A	ENST00000289429.5	+	2	592	c.58_splice	c.e2-1	p.G20_splice		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	20					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G20E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTTGTCGCAGGGCTCAAGGAG	0.483000													13	143					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179441553	179441553	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr2:179441553G>A	ENST00000589042.1	-	325	69642	c.69418C>T	c.(69418-69420)Cct>Tct	p.P23140S	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14200S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20572S|TTN_ENST00000591111.1_Missense_Mutation_p.P21499S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14075S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14267S|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21499	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P20572S(1)|p.P14200S(1)|p.P14267S(1)|p.P20570S(1)|p.P14075S(1)		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)			GGAGGGCCAGGGGGACCTGAA	0.433000													34	32					0	0	0.010818	0	0
PTGS1	5742	broad.mit.edu	37	9	125145998	125145998	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr9:125145998G>A	ENST00000362012.2	+	8	978	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PTGS1_ENST00000540753.1_Missense_Mutation_p.E300K|PTGS1_ENST00000223423.4_Missense_Mutation_p.E325K|PTGS1_ENST00000373698.5_Missense_Mutation_p.E216K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	325					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.E325K(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTGGGGCGATGAGCAGCTTTT	0.612000													27	1					0	0	0.005443	0	0
UCHL5	51377	broad.mit.edu	37	1	192998323	192998323	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:192998323C>T	ENST00000367452.4	-	6	949	c.179G>A	c.(178-180)gGa>gAa	p.G60E	UCHL5_ENST00000367451.4_Missense_Mutation_p.G184E|UCHL5_ENST00000367455.3_Missense_Mutation_p.G184E|UCHL5_ENST00000367454.1_Missense_Mutation_p.G184E|UCHL5_ENST00000530098.2_Missense_Mutation_p.G60E|UCHL5_ENST00000367448.1_Missense_Mutation_p.G184E|UCHL5_ENST00000367449.1_Missense_Mutation_p.G184E			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	184					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G184E(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						ATCAATCGGTCCTTCTCTTAA	0.368000													111	34					0	0	0.014410	0	0
PTPN9	5780	broad.mit.edu	37	15	75798091	75798091	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr15:75798091C>G	ENST00000306726.2	-	7	1405	c.893G>C	c.(892-894)aGg>aCg	p.R298T	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	298						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.R298P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTTTTGCCTGGCATTAAC	0.478000													13	69					0	0	0.020292	0	0
FOXO4	4303	broad.mit.edu	37	X	70321392	70321392	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:70321392C>T	ENST00000374259.3	+	2	1644	c.1312C>T	c.(1312-1314)Cca>Tca	p.P438S	FOXO4_ENST00000341558.3_Missense_Mutation_p.P383S	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	438					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P438S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGCACCACCTCCAGTCATGGC	0.607000													10	44					0	0	0.013537	0	0
COL27A1	85301	broad.mit.edu	37	9	117062395	117062395	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr9:117062395G>A	ENST00000356083.3	+	50	5021	c.4630G>A	c.(4630-4632)Gga>Aga	p.G1544R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1544	Collagen-like 15.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.G1544R(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGGTCTCTTCGGACCCAAGGT	0.532000													7	40					0	0	0.003080	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133292	91133292	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chrX:91133292G>C	ENST00000373094.1	+	2	2898	c.2053G>C	c.(2053-2055)Gtt>Ctt	p.V685L	PCDH11X_ENST00000361655.2_Missense_Mutation_p.V685L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V685L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000504220.1_Missense_Mutation_p.V685L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V685L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	685	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V685L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTATGAATTGGTTCTACCGTC	0.428000													5	148					0	0	0.001168	0	0
ZNF568	374900	broad.mit.edu	37	19	37441720	37441720	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr19:37441720G>C	ENST00000415168.1	+	5	1849	c.1473G>C	c.(1471-1473)gaG>gaC	p.E491D	ZNF568_ENST00000333987.7_Missense_Mutation_p.E555D|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E555D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATACTGGAGAGAAACCATTCA	0.378000													25	27					0	0	0.021523	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gaaafs	p.EK24fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	24					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													7	380	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:155307999_155308000insT	ENST00000368346.3	-	27	9337_9338	c.8698_8699insA	c.(8698-8700)agafs	p.R2900fs	ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.R2895fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2900					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.520													7	231	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232564299	232564300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr1:232564299_232564300insC	ENST00000366630.1	-	16	4625_4626	c.4267_4268insG	c.(4267-4269)gatfs	p.D1423fs	SIPA1L2_ENST00000308942.4_Frame_Shift_Ins_p.D497fs|SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.D1423fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1423					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GACATCCATCTCACTATACATC	0.401													83	6	---	---	---	---					
AQP12B	653437	broad.mit.edu	37	2	241621800	241621800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr2:241621800delC	ENST00000407834.3	-	1	517	c.455delG	c.(454-456)acfs	p.S153fs		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	141						integral to membrane	transporter activity	p.S152fs*24(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGGGCCGAGCTGCAGCTCTG	0.697													6	5	---	---	---	---					
KLB	152831	broad.mit.edu	37	4	39436044	39436049	+	In_Frame_Del	DEL	AGTTGT	AGTTGT	-			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr4:39436044_39436049delAGTTGT	ENST00000257408.4	+	2	1137_1142	c.1040_1045delAGTTGT	c.(1039-1047)atc>a	p.KLF347del		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	347	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ATGAGAAAGAAGTTGTTCTCCGTTCT	0.451													39	47	---	---	---	---					
LOC646762	646762	broad.mit.edu	37	7	29720482	29720483	+	RNA	INS	-	-	G	rs70980562		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:29720482_29720483insG	ENST00000426767.1	-	0	366					NR_024278.1																						CTCTCAGATCAGTGATGCCCTG	0.485													16	41	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242490	55242507	+	In_Frame_Del	DEL	AAAGCCAACAAGGAAATC	AAAGCCAACAAGGAAATC	-	rs121913463		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:55242490_55242507delAAAGCCAACAAGGAAATC	ENST00000275493.2	+	19	2437_2454	c.2260_2277delAAAGCCAACAAGGAAATC	c.(2260-2277)del	p.KANKEI754del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KANKEI701del|EGFR_ENST00000455089.1_In_Frame_Del_p.KANKEI709del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	754	Protein kinase.		Missing (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(2)|p.K754E(2)|p.L747_K754del(2)|p.T751_I759del(2)|p.L747_K754>ST(1)|p.A755A(1)|p.T751_I759>REA(1)|p.P753_I759del(1)|p.K754R(1)|p.E758G(1)|p.K754K(1)|p.K757>NK(1)|p.K754I(1)|p.K754A(1)|p.L747_K754>N(1)|p.I759N(1)|p.A750_E758del(1)|p.A750_K754del(1)|p.N756Y(1)|p.K757R(1)|p.N756S(1)|p.E758D(1)|p.T751_E758del(1)|p.K757M(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACATCTCCGAAAGCCAACAAGGAAATCCTCGATGTGA	0.500		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			117	56	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													6	13	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													9	46	---	---	---	---					
KLC2	64837	broad.mit.edu	37	11	66034357	66034358	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr11:66034357_66034358insTC	ENST00000417856.1	+	16	2042_2043	c.1799_1800insTC	c.(1798-1800)gctfs	p.A600fs	KLC2_ENST00000316924.5_Frame_Shift_Ins_p.A600fs|KLC2_ENST00000421552.1_Frame_Shift_Ins_p.A523fs|KLC2_ENST00000394065.2_3'UTR|KLC2_ENST00000394066.2_Frame_Shift_Ins_p.A523fs|KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394067.2_Frame_Shift_Ins_p.A600fs	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	600					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGAGGCACAGGTCTCTCTGACA	0.663													8	79	---	---	---	---					
OR4N2	390429	broad.mit.edu	37	14	20296055	20296056	+	Frame_Shift_Ins	INS	-	-	T	rs149523724	by1000genomes	TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr14:20296055_20296056insT	ENST00000315947.1	+	1	448_449	c.448_449insT	c.(448-450)tggfs	p.W150fs	OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.W150fs	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCTCTGTGGCTTGGGGGTTTT	0.530													14	232	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579526	7579526	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr17:7579526delA	ENST00000420246.2	-	4	293	c.161delT	c.(160-162)tcfs	p.F54fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F54fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.F54fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F54fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	54	Interaction with HRMT1L2.		F -> L (in a sporadic cancer; somatic mutation).|F -> Y (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E51fs*59(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTTCAGTGAACCATTGTTC	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			176	11	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	RNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs117834183	by1000genomes	TCGA-50-6591-01A-11D-1753-08	TCGA-50-6591-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bf7462a2-394f-4838-bcb6-4d0126fa48b1	cd2253b4-6c44-45fc-8300-61fb5d23a3bd	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538													4	3	---	---	---	---					
