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
CD160	11126	broad.mit.edu	37	1	145699074	145699074	+	Silent	SNP	T	T	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:145699074T>A	ENST00000369290.1	-	3	247	c.90A>T	c.(88-90)acA>acT	p.T30T	CD160_ENST00000401557.3_Silent_p.T139T|CD160_ENST00000369288.2_Silent_p.T139T|CD160_ENST00000235933.6_Silent_p.T139T			O95971	BY55_HUMAN	CD160 molecule	139	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	p.T139T(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCGTCACTGTGTAGTTCC	0.433000													32	74					0	0	0.003271	0	0
OTUD7B	56957	broad.mit.edu	37	1	149936222	149936222	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:149936222T>C	ENST00000369135.3	-	6	951	c.657A>G	c.(655-657)gcA>gcG	p.A219A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	219	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	p.A219A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTCCATCAGTGCATACAAAG	0.517000													83	119					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179615912	179615912	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179615912T>C	ENST00000360870.5	-	46	11437	c.11215A>G	c.(11215-11217)Aaa>Gaa	p.K3739E	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9587							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATATCTTTATCACTAGCT	0.338000													33	126					0	0	0.001786	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113394	117113394	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:117113394G>T	ENST00000310357.3	-	6	2713	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.L723I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.L827I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	898					response to amino acid stimulus		G-protein coupled receptor activity	p.L898I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTGCCTGAAGATCTTTGCTT	0.453000													8	222					2.17888e-05	8.94621e-05	0.006214	1	0
SDHAP1	255812	broad.mit.edu	37	3	195717102	195717102	+	RNA	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:195717102A>G	ENST00000427841.1	-	0	48					NR_003264.2																						GCGCTTGGCAACCGCGACAGG	0.776000													3	11					0	0	0.000248	0	0
EXPH5	23086	broad.mit.edu	37	11	108383265	108383265	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108383265T>C	ENST00000265843.4	-	6	3079	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G	EXPH5_ENST00000428840.1_Missense_Mutation_p.E914G|EXPH5_ENST00000525344.1_Missense_Mutation_p.E983G|EXPH5_ENST00000443411.1_Missense_Mutation_p.E802G	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	990					intracellular protein transport		Rab GTPase binding	p.E990G(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGATATACTTTCTGTTTTGCT	0.363000													30	119					0	0	0.002836	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198379	170198379	+	Silent	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:170198379C>A	ENST00000231706.4	-	7	2007	c.1692G>T	c.(1690-1692)acG>acT	p.T564T	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	564						integral to membrane	amino acid transmembrane transporter activity	p.T564T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGATGGTCACCGTGTGCCCCG	0.532000													61	22					2.18419e-29	1.07364e-28	0.003610	1	0
CPB1	1360	broad.mit.edu	37	3	148562468	148562468	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:148562468G>A	ENST00000491148.1	+	9	1026	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	CPB1_ENST00000282957.4_Missense_Mutation_p.R231Q			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	231					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R231Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTCAGAGCCGATTTTGGAGA	0.443000													64	34					0	0	0.003610	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460449	160460449	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:160460449T>G	ENST00000368059.3	-	4	742	c.673A>C	c.(673-675)Aaa>Caa	p.K225Q	SLAMF6_ENST00000368057.3_Missense_Mutation_p.K225Q|SLAMF6_ENST00000368055.1_Missense_Mutation_p.K114Q	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	225						integral to membrane|plasma membrane	receptor activity	p.K225Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGAATCATTTTGGTATCTGTA	0.383000													5	126					0	0	0.001168	0	0
OR13F1	138805	broad.mit.edu	37	9	107266550	107266550	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:107266550C>A	ENST00000334726.2	+	1	96	c.7C>A	c.(7-9)Ccg>Acg	p.P3T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P3T(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAATGTTCCCGGCAAATTG	0.383000													33	48					1.04352e-10	4.49614e-10	0.003755	1	0
BPI	671	broad.mit.edu	37	20	36952397	36952397	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:36952397G>A	ENST00000262865.4	+	8	983	c.894G>A	c.(892-894)ggG>ggA	p.G298G	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	298					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.G298G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ACACAGCCGGGCTTGTATACC	0.557000													30	33					0	0	0.002836	0	0
TRIM23	373	broad.mit.edu	37	5	64890374	64890374	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:64890374G>C	ENST00000231524.9	-	10	1890	c.1519C>G	c.(1519-1521)Ctg>Gtg	p.L507V	TRIM23_ENST00000381018.3_Missense_Mutation_p.L507V|TRIM23_ENST00000274327.7_Missense_Mutation_p.L507V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	507	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L507V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATCAGGAGCAGAGCATCTCGG	0.358000													57	100					0	0	0.003610	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207997	140207997	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:140207997G>T	ENST00000529310.1	+	1	435	c.321G>T	c.(319-321)gaG>gaT	p.E107D	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E107D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.E107D(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTGGAGGTGATCGTGG	0.567000													94	159					1.6041e-38	8.23279e-38	0.003610	1	0
OSBPL6	114880	broad.mit.edu	37	2	179247751	179247751	+	Splice_Site	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179247751T>C	ENST00000190611.4	+	17	1998	c.1621_splice	c.e17-1	p.I541_splice	OSBPL6_ENST00000359685.3_Splice_Site_p.I505_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.I510_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.I545_splice|OSBPL6_ENST00000409631.1_Splice_Site_p.I505_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.I566_splice	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	541					lipid transport		lipid binding	p.I541T(1)|p.I566T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTCTTCCAGTCCTGAATGGG	0.453000													44	57					0	0	0.003610	0	0
ATM	472	broad.mit.edu	37	11	108236107	108236107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108236107G>T	ENST00000278616.4	+	63	9428	c.9043G>T	c.(9043-9045)Gag>Tag	p.E3015*	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Nonsense_Mutation_p.E3015*|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	3015					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E3015*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGACTACAAGAGAAACTGAA	0.423000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			48	33					5.13769e-22	2.39074e-21	0.003610	1	0
COX10-AS1	100874058	broad.mit.edu	37	17	13927856	13927856	+	RNA	SNP	T	T	C	rs148981647	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr17:13927856T>C	ENST00000602743.1	-	0	224																											TTCTCCACTTTGAGAGGTTGC	0.542000													3	30					0	0	0.001984	0	0
TC2N	123036	broad.mit.edu	37	14	92268648	92268648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr14:92268648A>T	ENST00000435962.2	-	4	742	c.419T>A	c.(418-420)tTg>tAg	p.L140*	TC2N_ENST00000340892.5_Nonsense_Mutation_p.L140*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.L140*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.L140*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	140						nucleus		p.L140*(2)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GCGTCGACTCAAATCAGGTGA	0.418000													81	43					0	0	0.003610	0	0
OXCT1	5019	broad.mit.edu	37	5	41805723	41805723	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:41805723C>A	ENST00000196371.5	-	9	1061	c.901G>T	c.(901-903)Gta>Tta	p.V301L	OXCT1_ENST00000509987.1_Missense_Mutation_p.V115L	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	301					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	p.V301L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CGTTCCCTTACGTCATCTCCA	0.438000													53	110					1.74971e-23	8.25202e-23	0.003610	1	0
TAAR8	83551	broad.mit.edu	37	6	132874425	132874425	+	Silent	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:132874425G>T	ENST00000275200.1	+	1	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	198						plasma membrane	G-protein coupled receptor activity	p.V198V(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AAGGCTGGGTGTTGATAGATT	0.358000													24	93					6.21321e-17	2.74482e-16	0.002780	1	0
HECW1	23072	broad.mit.edu	37	7	43484237	43484237	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:43484237A>G	ENST00000395891.1	+	11	2071	c.1466A>G	c.(1465-1467)gAg>gGg	p.E489G	HECW1_ENST00000453890.1_Missense_Mutation_p.E489G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.E489G(1)|p.E468G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTTGGAGGAGGAAGCAACG	0.637000													12	13					0	0	0.001368	0	0
ALMS1	7840	broad.mit.edu	37	2	73830399	73830399	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830399C>G	ENST00000264448.6	+	21	12438	c.12327C>G	c.(12325-12327)atC>atG	p.I4109M	ALMS1_ENST00000409009.1_Missense_Mutation_p.I4067M|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4109					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.I4109M(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						ACAAGCCTATCAGCAAGAAGG	0.488000													11	22					0	0	0.002450	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	40					0	0	0.000248	0	0
GABRA6	2559	broad.mit.edu	37	5	161112996	161112996	+	Translation_Start_Site	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:161112996A>G	ENST00000523217.1	+	1	243	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	GABRA6_ENST00000274545.5_Start_Codon_SNP_p.M1V|GABRA6_ENST00000522269.1_Intron	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	1					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.M1V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACTGCAGGATGGCGTCGTC	0.463000										TCGA Ovarian(5;0.080)			11	125					0	0	0.001368	0	0
EPHB6	2051	broad.mit.edu	37	7	142564781	142564781	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:142564781G>T	ENST00000392957.2	+	11	2492	c.1705G>T	c.(1705-1707)Ggc>Tgc	p.G569C	EPHB6_ENST00000442129.1_Missense_Mutation_p.G569C|EPHB6_ENST00000411471.2_Missense_Mutation_p.G292C	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	569	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.G554C(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCCGGCCACGGCCCCTACGG	0.627000													11	49					4.36969e-10	1.85978e-09	0.001855	1	0
NUP214	8021	broad.mit.edu	37	9	134015959	134015959	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:134015959G>C	ENST00000359428.5	+	11	1300	c.1156G>C	c.(1156-1158)Gct>Cct	p.A386P	RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A386P|NUP214_ENST00000411637.2_Missense_Mutation_p.A386P|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	386					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.A386P(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTTCCTCCTGCTCCAGTTCT	0.393000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								11	164					0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	113649131	113649131	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:113649131C>T	ENST00000297405.5	-	22	3874	c.3630G>A	c.(3628-3630)tcG>tcA	p.S1210S	CSMD3_ENST00000343508.3_Silent_p.S1170S|CSMD3_ENST00000455883.2_Silent_p.S1106S|CSMD3_ENST00000352409.3_Silent_p.S1210S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1210	Sushi 6.					integral to membrane|plasma membrane		p.S1210S(2)|p.S1170S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCGATAACCCGAAGAGCATG	0.507000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	223					0	0	0.005443	0	0
CNTLN	54875	broad.mit.edu	37	9	17298270	17298270	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:17298270C>G	ENST00000380647.3	+	7	1150	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q356E|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q356E|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q356E			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	356						centriole|membrane	two-component sensor activity	p.Q356E(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CCAGCAGCTTCAGGTTCTCAA	0.403000													42	22					0	0	0.002522	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1																						CCCCCACCCCGTCATGTACAG	0.413000													5	35					0	0	0.001168	0	0
GLUL	2752	broad.mit.edu	37	1	182353654	182353654	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:182353654G>A	ENST00000311223.5	-	8	1904	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Silent_p.Y336Y|GLUL_ENST00000339526.4_Silent_p.Y336Y|GLUL_ENST00000331872.6_Silent_p.Y336Y	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	336					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	p.Y336Y(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GATCTTCAAAGTAACCCTTCT	0.547000													5	82					0	0	0.000602	0	0
MYH1	4619	broad.mit.edu	37	17	10412919	10412919	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr17:10412919C>A	ENST00000226207.5	-	15	1564	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	490	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q490H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTTGAAAAACTGTTGCAGTT	0.433000													75	85					3.48418e-26	1.66573e-25	0.003610	1	0
FBXL7	23194	broad.mit.edu	37	5	15928027	15928027	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:15928027C>A	ENST00000504595.1	+	3	637	c.156C>A	c.(154-156)agC>agA	p.S52R	FBXL7_ENST00000329673.7_Missense_Mutation_p.S40R|FBXL7_ENST00000510662.1_Missense_Mutation_p.S5R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	52					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S52R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCACACTGAGCACGCCCAGCC	0.587000													25	95					2.41591e-17	1.08097e-16	0.004656	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504477	151504477	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:151504477T>C	ENST00000317605.4	+	1	1401	c.296T>C	c.(295-297)gTg>gCg	p.V99A	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	99					nervous system development	nucleus		p.V99A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTGCGCAGTGCTCAAACTG	0.597000													18	76					0	0	0.007413	0	0
CASR	846	broad.mit.edu	37	3	122002536	122002536	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:122002536G>A	ENST00000498619.1	+	7	2203	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	CASR_ENST00000490131.1_Missense_Mutation_p.A579T|CASR_ENST00000296154.5_Missense_Mutation_p.A579T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	579					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.A579T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTTTACAGATGCCAGTGCCTG	0.473000													12	65					0	0	0.001368	0	0
BICD1	636	broad.mit.edu	37	12	32491750	32491750	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:32491750C>G	ENST00000281474.5	+	8	2704	c.2601C>G	c.(2599-2601)agC>agG	p.S867R	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	867					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	p.S867R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTGATCAGAGCCGTCCCAGGA	0.428000													97	294					0	0	0.003610	0	0
KDM5A	5927	broad.mit.edu	37	12	442778	442778	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:442778C>A	ENST00000399788.2	-	12	1890	c.1528G>T	c.(1528-1530)Gct>Tct	p.A510S	KDM5A_ENST00000382815.4_Missense_Mutation_p.A510S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	510	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A510S(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGCTCTGCAGCATGAGATGGC	0.493000			T	NUP98	AML								66	91					2.36135e-34	1.1773e-33	0.003610	1	0
CAMK4	814	broad.mit.edu	37	5	110814095	110814095	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:110814095C>G	ENST00000282356.4	+	9	1116	c.718C>G	c.(718-720)Cca>Gca	p.P240A	CAMK4_ENST00000512453.1_Missense_Mutation_p.P240A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	240	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.P240A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGATTTGAACCATTCTATGA	0.343000													10	195					0	0	0.001368	0	0
CLEC9A	283420	broad.mit.edu	37	12	10213811	10213811	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:10213811G>T	ENST00000355819.1	+	6	871	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	86					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.K86N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CAGAATGGAAGAGAAGCTGTG	0.408000													31	61					1.99505e-19	9.04251e-19	0.002445	1	0
REG1B	5968	broad.mit.edu	37	2	79314711	79314711	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:79314711G>T	ENST00000305089.3	-	2	108	c.28C>A	c.(28-30)Ctg>Atg	p.L10M		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	10					cell proliferation	extracellular region	sugar binding	p.L10M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GAGGAGATCAGCATGAAGAAC	0.493000													23	24					2.44723e-14	1.0676e-13	0.004656	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813793	106813793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:106813793G>T	ENST00000407775.2	+	8	1733	c.1483G>T	c.(1483-1485)Ggc>Tgc	p.G495C	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G363C|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G363C|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G226C|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	495					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.G495C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCCCTGTGGGCCCTTTCCT	0.458000													50	306					4.1673e-28	2.01998e-27	0.003610	1	0
RFX7	64864	broad.mit.edu	37	15	56387452	56387452	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr15:56387452C>A	ENST00000423270.1	-	9	2473	c.2474G>T	c.(2473-2475)gGa>gTa	p.G825V	RFX7_ENST00000422057.1_Missense_Mutation_p.G728V|RFX7_ENST00000317318.6_Missense_Mutation_p.G825V|RFX7_ENST00000559447.2_Missense_Mutation_p.G728V	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	728					regulation of transcription, DNA-dependent	nucleus	DNA binding	p.G825V(1)|p.G728V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGTGGCATTCCTTCTAATTC	0.388000													73	96					1.96331e-54	1.02268e-53	0.003610	1	0
TAZ	6901	broad.mit.edu	37	X	153648424	153648424	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chrX:153648424T>C	ENST00000299328.5	+	8	926	c.637T>C	c.(637-639)Tgg>Cgg	p.W213R	TAZ_ENST00000369790.4_Missense_Mutation_p.W169R|TAZ_ENST00000350743.4_Missense_Mutation_p.W183R|TAZ_ENST00000351413.4_Missense_Mutation_p.W199R|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.W144R	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	213					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	p.W213R(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCCCCTGTGGCATGTCGG	0.642000													7	115					0	0	0.003080	0	0
FAM110B	90362	broad.mit.edu	37	8	59059695	59059695	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:59059695C>T	ENST00000361488.3	+	5	1786	c.906C>T	c.(904-906)gaC>gaT	p.D302D	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	302						microtubule organizing center|mitochondrion|nucleus		p.D302D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CTAATTCTGACATAATATCCC	0.493000													7	127					0	0	0.001984	0	0
ZNF112	7665	broad.mit.edu	37	19	44847409	44847409	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr19:44847409G>A	ENST00000337401.4	-	2	100	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000536500.1_Silent_p.F21F|ZNF112_ENST00000354340.4_Intron	NM_001083335.1	NP_001076804.1			zinc finger protein 112									p.F4F(1)									AGCTCACCTGGAATTTGGTCA	0.403000													31	83					0	0	0.003271	0	0
LARP1B	55132	broad.mit.edu	37	4	129043234	129043234	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:129043234C>G	ENST00000326639.6	+	11	1626	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C	LARP1B_ENST00000264584.5_Missense_Mutation_p.S425C|LARP1B_ENST00000427266.1_Missense_Mutation_p.S472C|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.S472C|LARP1B_ENST00000512292.1_Missense_Mutation_p.S472C	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	472							RNA binding	p.S472C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ACCCACATGTCTCGGGCAAAA	0.378000													24	143					0	0	0.003954	0	0
CARTPT	9607	broad.mit.edu	37	5	71016433	71016433	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:71016433G>C	ENST00000296777.4	+	3	473	c.342G>C	c.(340-342)aaG>aaC	p.K114N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	114					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		p.K114N(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCCTCCTGAAGTGCTTATGAA	0.557000													7	14					0	0	0.003080	0	0
SENP7	57337	broad.mit.edu	37	3	101050843	101050843	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:101050843T>C	ENST00000394095.2	-	19	2737	c.2684A>G	c.(2683-2685)gAc>gGc	p.D895G	SENP7_ENST00000394094.2_Missense_Mutation_p.D830G|SENP7_ENST00000394085.3_Missense_Mutation_p.D83G|SENP7_ENST00000394091.1_Missense_Mutation_p.D731G|SENP7_ENST00000314261.7_Missense_Mutation_p.D829G|SENP7_ENST00000348610.3_Missense_Mutation_p.D862G|SENP7_ENST00000358203.3_Missense_Mutation_p.D731G	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	895	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.D895G(1)|p.D829G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTTTGTTGTCATTTTGGGA	0.373000													11	189					0	0	0.001368	0	0
TATDN1	83940	broad.mit.edu	37	8	125534428	125534428	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125534428A>G	ENST00000276692.6	-	3	139	c.102T>C	c.(100-102)gaT>gaC	p.D34D	TATDN1_ENST00000605953.1_Silent_p.D34D|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000517678.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	34						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.D34D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCCTATTACATCCTGTAAGT	0.279000													7	182					0	0	0.003080	0	0
WDR65	149465	broad.mit.edu	37	1	43650921	43650921	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:43650921T>C	ENST00000372492.4	+	5	1187	c.863T>C	c.(862-864)aTt>aCt	p.I288T	WDR65_ENST00000528956.1_Missense_Mutation_p.I288T	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	288								p.I288T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGTTTGCCATTGCAGCCTAT	0.498000													53	89					0	0	0.003610	0	0
FMO4	2329	broad.mit.edu	37	1	171303668	171303668	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:171303668A>T	ENST00000367749.3	+	8	1276	c.946A>T	c.(946-948)Aca>Tca	p.T316S		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	316					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.T316S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAAGATGGGACAGTGGAAGA	0.383000													78	107					0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616058	33616058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:33616058C>A	ENST00000504830.1	-	15	2598	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G670*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	755	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G755*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATAAACCCTCCATTCAGGTAA	0.468000										HNSCC(64;0.19)			69	125					1.07363e-35	5.43039e-35	0.003610	1	0
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	RNA	SNP	C	C	T	rs7615357	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391																											GGGGCAAACTCGCTGTTGGAC	0.592000													4	58					0	0	0.001168	0	0
SMAP1	60682	broad.mit.edu	37	6	71566660	71566660	+	Silent	SNP	A	A	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:71566660A>C	ENST00000370455.3	+	9	1136	c.888A>C	c.(886-888)gcA>gcC	p.A296A	SMAP1_ENST00000370452.3_Silent_p.A269A|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Silent_p.A269A	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	296					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.A269A(1)|p.A296A(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGAAGTGGCAAAGAAACAAC	0.428000													4	167					0	0	0.000602	0	0
DTWD2	285605	broad.mit.edu	37	5	118183901	118183901	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:118183901T>C	ENST00000304058.4	-	5	482	c.412A>G	c.(412-414)Act>Gct	p.T138A	DTWD2_ENST00000515439.3_Missense_Mutation_p.T108A|DTWD2_ENST00000510708.1_Missense_Mutation_p.T204A			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	204								p.T204A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GAAATGCTAGTTTTTAATTGC	0.308000													11	59					0	0	0.002450	0	0
ZNF25	219749	broad.mit.edu	37	10	38241751	38241751	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:38241751T>C	ENST00000302609.7	-	6	887	c.675A>G	c.(673-675)acA>acG	p.T225T	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T225T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTTTCTCCCCTGTGTGTGTTT	0.423000													13	276					0	0	0.001855	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717134	195717134	+	RNA	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:195717134G>A	ENST00000427841.1	-	0	16					NR_003264.2																						CGACACGTCTGTAGTCGCCGC	0.761000													3	8					0	0	0.000248	0	0
BBS2	583	broad.mit.edu	37	16	56545113	56545113	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:56545113A>G	ENST00000245157.5	-	3	849	c.429T>C	c.(427-429)gcT>gcC	p.A143A	BBS2_ENST00000568104.1_Silent_p.A143A|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	143					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.A143A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AACCTTGCAGAGCACAATTGC	0.398000									Bardet-Biedl syndrome				59	168					0	0	0.003610	0	0
ALMS1	7840	broad.mit.edu	37	2	73830395	73830395	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830395C>T	ENST00000264448.6	+	21	12434	c.12323C>T	c.(12322-12324)cCt>cTt	p.P4108L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P4066L|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4108					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.P4108L(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						AAGAACAAGCCTATCAGCAAG	0.483000													13	23					0	0	0.004007	0	0
BAP1	8314	broad.mit.edu	37	3	52441235	52441235	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:52441235G>A	ENST00000460680.1	-	7	1006	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	BAP1_ENST00000296288.5_Missense_Mutation_p.R179W	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	179					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R179W(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCAAAGAGCCGGCCTGTGATA	0.597000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							31	31					0	0	0.004878	0	0
PEX3	8504	broad.mit.edu	37	6	143792568	143792568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:143792568C>T	ENST00000367591.4	+	6	568	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	169					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	p.Q169*(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ATCAAGTATTCAGCACCTACT	0.294000													12	160					0	0	0.001855	0	0
EIF4E	1977	broad.mit.edu	37	4	99802265	99802265	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:99802265G>A	ENST00000450253.2	-	7	2092	c.568C>T	c.(568-570)Cct>Tct	p.P190S	EIF4E_ENST00000280892.6_Missense_Mutation_p.P210S|EIF4E_ENST00000504432.1_Missense_Mutation_p.P218S|EIF4E_ENST00000505992.1_Missense_Mutation_p.P221S	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	190					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	p.P190S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ATCTTTGGAGGAAGTCCTAAC	0.358000													18	46					0	0	0.004656	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805603	20805603	+	RNA	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr17:20805603G>A	ENST00000577537.1	+	0	787				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							GGCCTTCTACGCCCATTACTG	0.567000													51	80					0	0	0.003610	0	0
RANBP2	5903	broad.mit.edu	37	2	109381162	109381162	+	Silent	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:109381162A>T	ENST00000283195.6	+	20	4293	c.4167A>T	c.(4165-4167)ccA>ccT	p.P1389P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1389					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.P1389P(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGGCCCACCATTAGCTGAAA	0.408000													87	162					0	0	0.003610	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	12					0	0	0.001855	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642327	19642327	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr21:19642327C>A	ENST00000284885.3	-	25	3052	c.3019G>T	c.(3019-3021)Gtc>Ttc	p.V1007F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1007	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.V1007F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACCTTGAGACCCTGGCATAC	0.433000													5	100					0.000602214	0.00244387	0.000602	1	0
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562000													3	58					0	0	0.004672	0	0
GNAS	2778	broad.mit.edu	37	20	57428785	57428785	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:57428785C>G	ENST00000371100.4	+	1	1017	c.465C>G	c.(463-465)agC>agG	p.S155R	GNAS_ENST00000306120.3_Missense_Mutation_p.A92G|GNAS_ENST00000371099.2_Missense_Mutation_p.S155R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S155R|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.S155R(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGGATACAGCCCTCCACCAG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			12	16					0	0	0.001855	0	0
LOC101927533	101927533	broad.mit.edu	37	2	65738847	65738847	+	RNA	DEL	T	T	-	rs111377658		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:65738847delT	ENST00000377977.3	+	0	862																											ttttTTGAAATTTTTTTTTTT	0.294													3	5	---	---	---	---					
RNF139	11236	broad.mit.edu	37	8	125499067	125499084	+	In_Frame_Del	DEL	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	-	rs142948801		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC	ENST00000303545.3	+	2	1549_1566	c.1177_1194delCTGTTTGTCTCTGCTTGC	c.(1177-1194)del	p.LFVSAC393del		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	393					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTCCTGTGCTGTTTGTCTCTGCTTGCCTGTTTATTC	0.404													219	576	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142508	53142509	+	RNA	INS	-	-	A	rs145002653	by1000genomes	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chrX:53142508_53142509insA	ENST00000604849.1	+	0	96																											AACACACACACAAAAAAAAACC	0.356													5	6	---	---	---	---					
