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
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20884854	20884854	+	RNA	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:20884854A>G	ENST00000582583.1	+	0	854				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000581958.1_RNA|RP11-344E13.3_ENST00000580056.1_RNA|RP11-344E13.3_ENST00000583481.1_RNA|RP11-344E13.3_ENST00000423473.2_RNA																							GAAGAGCAGTACTGGGCTGCT	0.627000													2	7					0	0	6.4e-05	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647000													47	102					0	0	0.000781405	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			22	55					0	0	0.00152264	0	0
STARD13	90627	broad.mit.edu	37	13	33703125	33703125	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473000													18	32					0	0	0.00074312	0	0
LRRC14	9684	broad.mit.edu	37	8	145746352	145746352	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637000													18	159					0	0	0.000566183	0	0
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	PAK7_ENST00000378423.1_Silent_p.A222A|PAK7_ENST00000353224.5_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488000													15	35					0	0	0.000566183	0	0
N4BP3	23138	broad.mit.edu	37	5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|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)			TGAAGCCCAGGCGGAACTGGC	0.622000													47	90					0	0	0.000781405	0	0
SENP6	26054	broad.mit.edu	37	6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:76344481C>T	ENST00000370014.3	+	5	1031	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000447266.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353000													14	32					0	0	0.000308642	0	0
PLXND1	23129	broad.mit.edu	37	3	129303021	129303021	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:129303021G>A	ENST00000393239.1	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000324093.4_Silent_p.A695A			Q9Y4D7	PLXD1_HUMAN	plexin D1	695					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597000													5	6					0	0	0.000602214	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449192	104449192	+	Silent	SNP	G	G	A	rs144389302		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTTCCATGTCGCAGCCAAACA	0.527000													11	26					0	0	0.000673444	0	0
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25213157C>T	ENST00000338094.6	+	3	250	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000577949.1_Silent_p.F63F	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468000													4	60					0	0	0.000602214	0	0
LMBRD1	55788	broad.mit.edu	37	6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353000													5	23					0	0	0.000602214	0	0
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443000													45	109					0	0	0.00285205	0	0
USP8	9101	broad.mit.edu	37	15	50788056	50788056	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:50788056G>C	ENST00000433963.1	+	18	3170	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	USP8_ENST00000425032.3_Silent_p.R784R|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000307179.4_Silent_p.R890R|USP8_ENST00000396444.3_Silent_p.R890R	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGATAATCGGAAGAGATATA	0.318000													6	16					0	0	0.000157383	0	0
NSD1	64324	broad.mit.edu	37	5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGGCTCAGTCAGAACTTGGA	0.542000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			78	34					1.03218e-28	4.75559e-28	0.000781405	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	62					0	0	0.00188189	0	0
CERS2	29956	broad.mit.edu	37	1	150941485	150941485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150941485G>A	ENST00000271688.6	-	2	468	c.82C>T	c.(82-84)Cga>Tga	p.R28*	CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron|CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	28						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CGTCCATCTCGGTCTTCTAGA	0.527000													8	47					0	0	0.000157383	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666883	666883	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATAGCAGTGAGGACATGGATG	0.547000													14	21					0	0	0.00244969	0	0
PHKB	5257	broad.mit.edu	37	16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:47627442T>C	ENST00000455779.1	+	12	1264	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	PHKB_ENST00000323584.5_Missense_Mutation_p.I367T|PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249000													10	18					0	0	0.000978159	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A|SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637000													35	51					0	0	0.00111076	0	0
DNAI2	64446	broad.mit.edu	37	17	72285736	72285736	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72285736C>T	ENST00000579490.1	+	4	777	c.642C>T	c.(640-642)gaC>gaT	p.D214D	DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D|DNAI2_ENST00000311014.6_Silent_p.D157D|DNAI2_ENST00000582036.1_Silent_p.D157D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547000									Kartagener syndrome				22	34					0	0	0.00188189	0	0
IL4	3565	broad.mit.edu	37	5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542000													63	124					0	0	0.000781405	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTGCTGCCCAGCGCCAACTC	0.607000										Prostate(3;0.18)			5	84					0	0	0.00198382	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033930	37033930	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517000													6	97					0	0	0.00116845	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305927	9305927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrY:9305927C>G	ENST00000451548.1	+	3	629	c.583C>G	c.(583-585)Cct>Gct	p.P195A	TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	195			P -> R.		cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						AGAGAAGCATCCTGTTCATCT	0.443000													20	139					0	0	0.00188189	0	0
TINAG	27283	broad.mit.edu	37	6	54245333	54245333	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358000													4	11					0	0	0.00024832	0	0
CACNG6	59285	broad.mit.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736000													8	17					0	0	0.000157383	0	0
PON2	5445	broad.mit.edu	37	7	95039308	95039308	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:95039308G>A	ENST00000536183.1	-	6	846	c.663C>T	c.(661-663)caC>caT	p.H221H	PON2_ENST00000222572.3_Silent_p.H200H|PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373000													23	54					0	0	0.00229938	0	0
PGGT1B	5229	broad.mit.edu	37	5	114588910	114588910	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTAAGGAATCCAACATATCCA	0.363000													11	50					0	0	0.00136819	0	0
HOXB2	3212	broad.mit.edu	37	17	46620658	46620658	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711000													9	48					0	0	0.000274275	0	0
CDCP1	64866	broad.mit.edu	37	3	45127378	45127378	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577000													71	41					0	0	0.000781405	0	0
CERK	64781	broad.mit.edu	37	22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602000													16	109					0	0	0.000566183	0	0
GRM3	2913	broad.mit.edu	37	7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACCTTGTTTTAGGGGGCCTG	0.413000													23	48					0	0	0.00229938	0	0
TTYH2	94015	broad.mit.edu	37	17	72233624	72233624	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572000													7	64					0	0	0.000157383	0	0
FAM184A	79632	broad.mit.edu	37	6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333000													11	35					0	0	0.000673444	0	0
FAM83H	286077	broad.mit.edu	37	8	144808544	144808544	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTACAAGGCGTTGGCCGTGG	0.692000													5	10					0	0	0.000602214	0	0
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:17611496G>C	ENST00000381869.3	-	2	2294	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A|MTUS1_ENST00000262102.6_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433000													5	167					0	0	0.000602214	0	0
OR4K5	79317	broad.mit.edu	37	14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418000													57	295					8.99859e-20	4.0899e-19	0.000781405	1	0
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438000													38	90					0	0	0.00148497	0	0
JPH1	56704	broad.mit.edu	37	8	75227563	75227563	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582000													9	104					0	0	0.00136819	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000439221.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512000													21	57					0	0	0.00188189	0	0
RALGDS	5900	broad.mit.edu	37	9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136037789C>T	ENST00000542690.1	-	2	291	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372040.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGCCAGTCTCCGGCGATGCAT	0.662000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	15					0	0	0.00116845	0	0
IKZF2	22807	broad.mit.edu	37	2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:213878608T>C	ENST00000457361.1	-	7	931	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000434687.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388000													38	70					0	0	0.00148497	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557000													30	79					0	0	0.000814825	0	0
HEATR1	55127	broad.mit.edu	37	1	236714247	236714247	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	LGALS8_ENST00000526589.1_3'UTR|LGALS8_ENST00000366584.4_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373000													30	38					0	0	0.0024448	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806191	93806191	+	Splice_Site	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1232_splice	c.e7-1	p.S411_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368000													8	21					0	0	0.000274275	0	0
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000485435.2_Silent_p.S49S|SURF4_ENST00000545297.1_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000467910.1_5'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597000													22	25					0	0	0.00278032	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14797798	14797798	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:14797798A>G	ENST00000358984.4	+	20	2154	c.1974A>G	c.(1972-1974)aaA>aaG	p.K658K	ANKRD30B_ENST00000579292.1_3'UTR	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	658										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GTGGAAGGAAAGTTTCTCTTC	0.279000													2	1					0	0	6.4e-05	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388000													3	139					0	0	0.00024832	0	0
NXPE3	91775	broad.mit.edu	37	3	101535734	101535734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:101535734C>T	ENST00000422132.1	+	4	1215	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	NXPE3_ENST00000491511.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*					neurexophilin and PC-esterase domain family, member 3																		TAAGATGCGTCAGTTTAATGA	0.393000													7	92					0	0	0.00198382	0	0
C11orf84	144097	broad.mit.edu	37	11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637000													4	12					2.56e-06	1.01694e-05	0.00024832	1	0
TECPR2	9895	broad.mit.edu	37	14	102900897	102900897	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532000													11	30					1.58986e-06	6.3406e-06	0.000673444	1	0
OXGR1	27199	broad.mit.edu	37	13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453000													10	16					2.17888e-05	8.48837e-05	0.000442599	1	0
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11141507G>T	ENST00000358026.2	+	25	3768	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607000			"""F, N, Mis"""		NSCLC								6	7					3.59834e-05	0.000139108	0.00116845	1	0
BTRC	8945	broad.mit.edu	37	10	103291078	103291078	+	Silent	SNP	A	A	T	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000408038.2_Silent_p.I240I|BTRC_ENST00000393441.4_Silent_p.I235I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368000													24	50					0	0	0.00278032	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552000													23	75					0	0	0.00278032	0	0
ZEB2	9839	broad.mit.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438000													9	177					0	0	0.000673444	0	0
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:37881982G>A	ENST00000406381.2	+	25	3168	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	64					0	0	0.00116845	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906364	906364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736000													5	10					0	0	0.00116845	0	0
NCAPG2	54892	broad.mit.edu	37	7	158449250	158449250	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:158449250C>T	ENST00000409339.3	-	18	2321	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q|NCAPG2_ENST00000409423.1_Silent_p.Q736Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468000													7	55					0	0	0.00198382	0	0
TEX13A	56157	broad.mit.edu	37	X	104464103	104464103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:104464103G>T	ENST00000372578.3	-	3	886	c.775C>A	c.(775-777)Cct>Act	p.P259T	TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.T258N	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562000													15	5					1.15088e-07	4.62644e-07	0.000422831	1	0
HOXC9	3225	broad.mit.edu	37	12	54396248	54396248	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567000													6	109					5.18039e-06	2.04981e-05	0.000157383	1	0
TARDBP	23435	broad.mit.edu	37	1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S|TARDBP_ENST00000315091.3_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498000													6	60					0	0	0.00198382	0	0
TMEM168	64418	broad.mit.edu	37	7	112407741	112407741	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:112407741G>C	ENST00000312814.5	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403000													17	41					0	0	0.000566183	0	0
GLB1	2720	broad.mit.edu	37	3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:33059966C>T	ENST00000307363.5	-	13	1465	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	GLB1_ENST00000307377.8_Missense_Mutation_p.D310N|GLB1_ENST00000399402.3_Missense_Mutation_p.D411N|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	441			D -> N (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507000													16	70					0	0	0.00074312	0	0
GHSR	2693	broad.mit.edu	37	3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652000													6	53					0	0	0.00116845	0	0
PIWIL3	440822	broad.mit.edu	37	22	25131809	25131809	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383000													39	103					0	0	0.00111076	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202653	140202653	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647000													12	150					0	0	0.000978159	0	0
FAT3	120114	broad.mit.edu	37	11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S|FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGTTAGCCCTTTGGATTA	0.438000										TCGA Ovarian(4;0.039)			7	16					0	0	0.00198382	0	0
MDN1	23195	broad.mit.edu	37	6	90384310	90384310	+	Splice_Site	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507000													13	32					0	0	0.00244969	0	0
FLNA	2316	broad.mit.edu	37	X	153588903	153588903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:153588903C>T	ENST00000422373.1	-	22	3508	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H|FLNA_ENST00000369850.3_Missense_Mutation_p.R1087H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1087					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					GATGGTGAAGCGGGCGGGGGA	0.692000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	14					0	0	0.000602214	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657000													32	18					0	0	0.000692331	0	0
C8B	732	broad.mit.edu	37	1	57422503	57422503	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:57422503A>G	ENST00000543257.1	-	4	740	c.174T>C	c.(172-174)tgT>tgC	p.C58C	C8B_ENST00000371237.4_Silent_p.C110C|C8B_ENST00000535057.1_Silent_p.C48C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498000													28	222					0	0	0.00127121	0	0
PBRM1	55193	broad.mit.edu	37	3	52637658	52637658	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52637658A>G	ENST00000356770.4	-	16	2564	c.2562T>C	c.(2560-2562)ctT>ctC	p.L854L	PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000296302.7_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L			Q86U86	PB1_HUMAN	polybromo 1	886	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								9	29					0	0	0.000274275	0	0
NADK	65220	broad.mit.edu	37	1	1685535	1685535	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:1685535C>T	ENST00000344463.4	-	12	1712	c.1491G>A	c.(1489-1491)tcG>tcA	p.S497S	NADK_ENST00000341426.5_Silent_p.S352S|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000378625.1_Silent_p.S497S			O95544	NADK_HUMAN	NAD kinase	352					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGAAGGACAGCGAGTGGGGGC	0.662000													9	77					0	0	0.000978159	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:42107957G>C	ENST00000457542.2	+	12	1739	c.1453G>C	c.(1453-1455)Gga>Cga	p.G485R	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G491R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592000													10	26					0	0	0.000673444	0	0
FGFR4	2264	broad.mit.edu	37	5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N|FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCATGGAGAAGAAACTGCATG	0.612000										TSP Lung(9;0.080)			5	48					0	0	0.000602214	0	0
CCDC50	152137	broad.mit.edu	37	3	191093190	191093190	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:191093190G>A	ENST00000392456.3	+	6	1378	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	283						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488000													13	33					0	0	0.00185496	0	0
COL3A1	1281	broad.mit.edu	37	2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGAGCTAACGGTCTCAG	0.433000													52	62					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152423805	152423805	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152423805G>A	ENST00000427231.2	-	114	18235	c.18033C>T	c.(18031-18033)gcC>gcT	p.A6011A	NEB_ENST00000172853.10_Silent_p.A4310A|NEB_ENST00000397345.3_Silent_p.A6011A|NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A|NEB_ENST00000409198.1_Silent_p.A4310A	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6028					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438000													52	53					0	0	0.000781405	0	0
IL19	29949	broad.mit.edu	37	1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478000													34	80					0	0	0.000814825	0	0
PARP10	84875	broad.mit.edu	37	8	145060329	145060329	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.E37E	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657000													12	63					0	0	0.000308642	0	0
TENM3	55714	broad.mit.edu	37	4	183601503	183601503	+	Splice_Site	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:183601503G>A	ENST00000511685.1	+	9	1762		c.e9+1		TENM3_ENST00000406950.2_Splice_Site|TENM3_ENST00000502950.1_Splice_Site					teneurin transmembrane protein 3																		TGTTCAAGAGGTATGCAAGTT	0.443000													8	19					0	0	0.000274275	0	0
AC015849.16	0	broad.mit.edu	37	17	34234112	34234112	+	RNA	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:34234112G>T	ENST00000587132.1	-	0	3915																											GGGGCCGCCTGCTGGGCTGGA	0.517000													8	57					1.06961e-07	4.3343e-07	0.000157383	1	0
CTNNB1	1499	broad.mit.edu	37	3	41267196	41267196	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAACTCTCCACAACCTTTTAT	0.383000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				54	37					0	0	0.000781405	0	0
SLC19A3	80704	broad.mit.edu	37	2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468000													29	86					0	0	0.00127121	0	0
TIAM2	26230	broad.mit.edu	37	6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507000													38	76					0	0	0.000953801	0	0
MME	4311	broad.mit.edu	37	3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000360490.2_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAACTGTTACCAGACATATA	0.363000													7	45					0	0	0.00198382	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTCCAGCCTCGACACT	0.582000													15	147					1.52009e-12	6.49903e-12	0.000308642	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157205	26157205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587000													5	15					0	0	0.000602214	0	0
NOL4	8715	broad.mit.edu	37	18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000269185.4_Missense_Mutation_p.N391S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535475.1_Missense_Mutation_p.N388S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468000													25	49					0	0	0.000878237	0	0
DNMT3A	1788	broad.mit.edu	37	2	25468197	25468197	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000321117.5_Silent_p.I493I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGATGCAGATGTCTGGAA	0.602000			"""Mis, F, N, S"""		AML								34	36					0	0	0.00283554	0	0
TJP1	7082	broad.mit.edu	37	15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000545208.2_Missense_Mutation_p.L418F|TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338000													19	23					0	0	0.000958276	0	0
CDSN	1041	broad.mit.edu	37	6	31084822	31084822	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:31084822G>T	ENST00000376288.2	-	2	596	c.570C>A	c.(568-570)tcC>tcA	p.S190S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	190	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GTCCAGGCTGGGAAGGGTTTA	0.557000													38	36					3.62531e-18	1.61856e-17	0.000814825	1	0
CCDC40	55036	broad.mit.edu	37	17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577000													9	36					3.09899e-07	1.24082e-06	0.000274275	1	0
ZNF585B	92285	broad.mit.edu	37	19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428000													10	56					0	0	0.000442599	0	0
ARNT	405	broad.mit.edu	37	1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000468970.1_5'UTR|ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453000			T	ETV6	AML								11	40					3.86212e-05	0.000147609	0.000673444	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418000													9	59					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138423G>T	ENST00000299308.3	+	9	2412	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473000													6	57					3.59834e-05	0.000139108	0.00116845	1	0
C1orf173	127254	broad.mit.edu	37	1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	879	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCAAGGCTTGCTTTTCAGG	0.527000													72	156					0	0	0.000781405	0	0
PRR12	57479	broad.mit.edu	37	19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCGAGGACGGGGCAGCAGA	0.672000													4	11					0	0	0.00198382	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534710	115534710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:115534710C>A	ENST00000354462.3	+	3	295	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S296Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y					pleckstrin homology domain containing, family S member 1																		TGGTGTCTTTCCCCTGCCGAT	0.488000													12	28					0.00010058	0.000382963	0.00136819	1	0
COL6A6	131873	broad.mit.edu	37	3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413000													14	42					3.27435e-08	1.33758e-07	0.00244969	1	0
CD1D	912	broad.mit.edu	37	1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627000													10	133					0	0	0.000673444	0	0
GPR119	139760	broad.mit.edu	37	X	129518927	129518927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532000													21	13					2.54575e-18	1.14163e-17	0.00152264	1	0
RASSF4	83937	broad.mit.edu	37	10	45484754	45484754	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:45484754G>A	ENST00000334940.6	+	7	725	c.591G>A	c.(589-591)gtG>gtA	p.V197V	RASSF4_ENST00000340258.4_Silent_p.V188V|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	188	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562000													11	31					0	0	0.00136819	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294944	55294944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:55294944C>T	ENST00000336077.6	+	7	864	c.824C>T	c.(823-825)gCg>gTg	p.A275V	KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	275					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517000													11	55					0	0	0.00152264	0	0
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:70139220G>C	ENST00000388768.2	-	12	1597	c.1271C>G	c.(1270-1272)aCc>aGc	p.T424S	RUFY2_ENST00000602465.1_Missense_Mutation_p.T389S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338000													8	64					0	0	0.000442599	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498000													6	118					0	0	0.00116845	0	0
ZNF550	162972	broad.mit.edu	37	19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:58058918C>G	ENST00000325134.5	-	3	754	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.E232Q|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q|ZNF549_ENST00000602149.1_Intron			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATTGCATTCATAGGGTTTC	0.488000													16	38					0	0	0.000308642	0	0
COL11A1	1301	broad.mit.edu	37	1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:103400075C>T	ENST00000358392.2	-	46	3883	c.3566G>A	c.(3565-3567)gGg>gAg	p.G1189E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1177E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448000													16	49					0	0	0.00074312	0	0
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478000										HNSCC(10;0.0054)			28	60					0	0	0.00058488	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:42050284G>A	ENST00000372584.1	-	3	1199	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000372583.1_Missense_Mutation_p.P62L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AACTGATGAGGGGCCCGGGAA	0.622000													46	76					0	0	0.0025221	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607000													9	77					0.000274275	0.00103263	0.000274275	1	0
SV2A	9900	broad.mit.edu	37	1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602000													7	27					0	0	0.00198382	0	0
ATP10A	57194	broad.mit.edu	37	15	25959362	25959362	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607000													16	31					6.31663e-08	2.56995e-07	0.000308642	1	0
PTPN21	11099	broad.mit.edu	37	14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398000													5	41					0	0	0.000602214	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869729	36869729	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572000													11	75					0	0	0.000978159	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443000													25	30					0	0	0.000720815	0	0
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			56	85					0	0	0.000781405	0	0
CDK4	1019	broad.mit.edu	37	12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	CDK4_ENST00000312990.6_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|TSPAN31_ENST00000547992.1_3'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGCAGCTGTGCTCCCGACTC	0.602000			Mis			melanoma			Hereditary Melanoma				18	74					0	0	0.00074312	0	0
APC2	10297	broad.mit.edu	37	19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	APC2_ENST00000238483.4_Missense_Mutation_p.G1032R|APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1306	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAgcgcggcgggggcgccgg	0.786000													4	11					0	0	0.00024832	0	0
TLE4	7091	broad.mit.edu	37	9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:82320843G>C	ENST00000376520.4	+	10	1597	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000265284.6_Missense_Mutation_p.D232H|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000376552.2_Missense_Mutation_p.D257H|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376534.4_5'UTR			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398000													6	80					0	0	0.00116845	0	0
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313000													17	60					3.51602e-12	1.4969e-11	0.00121646	1	0
MERTK	10461	broad.mit.edu	37	2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000421804.2_Missense_Mutation_p.E879G|MERTK_ENST00000409780.1_Missense_Mutation_p.E703G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	879					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTTGCTGGAGAGCTCTGAG	0.522000													43	164					0	0	0.000781405	0	0
BSX	390259	broad.mit.edu	37	11	122852272	122852272	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612000													3	4					0	0	6.4e-05	0	0
MAPK11	5600	broad.mit.edu	37	22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTTGACGATGTTGTTCAG	0.682000													9	12					0	0	0.000673444	0	0
RSPO2	340419	broad.mit.edu	37	8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368000													20	41					1.50039e-11	6.33428e-11	0.00188189	1	0
NEB	4703	broad.mit.edu	37	2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:152483591G>C	ENST00000427231.2	-	70	10474	c.10272C>G	c.(10270-10272)gaC>gaG	p.D3424E	NEB_ENST00000172853.10_Missense_Mutation_p.D3181E|NEB_ENST00000397345.3_Missense_Mutation_p.D3424E|NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3424					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488000													9	111					0	0	0.000274275	0	0
NOVA1	4857	broad.mit.edu	37	14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488000													43	76					0	0	0.00222228	0	0
JPH2	57158	broad.mit.edu	37	20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622000													8	43					2.17888e-05	8.48837e-05	0.000442599	1	0
NAIP	4671	broad.mit.edu	37	5	70308342	70308342	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:70308342T>C	ENST00000517649.1	-	4	691	c.401A>G	c.(400-402)aAc>aGc	p.N134S	NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	134					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTTGGCAATGTTACCAACATC	0.488000													36	126					0	0	0.00111076	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:20616166C>T	ENST00000202677.6	-	9	1043	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358000													6	121					0	0	0.00116845	0	0
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46							methyltransferase activity|nucleic acid binding	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418000													23	57					0	0	0.00278032	0	0
PTPN13	5783	broad.mit.edu	37	4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:87703369G>A	ENST00000436978.1	+	37	6473	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E	PTPN13_ENST00000411767.2_Missense_Mutation_p.G1993E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443000													9	85					0	0	0.000978159	0	0
ASB16	92591	broad.mit.edu	37	17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697000													10	45					0	0	0.000673444	0	0
CCIN	881	broad.mit.edu	37	9	36170744	36170744	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542000													29	43					0	0	0.001512	0	0
LRRC40	55631	broad.mit.edu	37	1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284000													10	19					0	0	0.000978159	0	0
DNAH9	1770	broad.mit.edu	37	17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:11573072T>G	ENST00000262442.3	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTGGAGCCTCCTGTTCAAA	0.453000													40	95					0	0	0.00170553	0	0
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Silent_p.S331S|DPCD_ENST00000470165.1_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562000								DNA polymerases (catalytic subunits)					15	29					0	0	0.000308642	0	0
DPP6	1804	broad.mit.edu	37	7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:154172062G>C	ENST00000404039.1	+	3	792	c.205G>C	c.(205-207)Gta>Cta	p.V69L	DPP6_ENST00000377770.3_Missense_Mutation_p.V133L|DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGGTCACTGTAGAAGATCT	0.403000													39	44					0	0	0.00170553	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATCATCATATCCTCTGAGTCT	0.343000													26	58					0	0	0.001512	0	0
SETX	23064	broad.mit.edu	37	9	135204921	135204921	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:135204921G>A	ENST00000372169.2	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000393220.1_Silent_p.C688C|SETX_ENST00000224140.5_Silent_p.C688C			Q7Z333	SETX_HUMAN	senataxin	688					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328000													25	43					0	0	0.00278032	0	0
CEP250	11190	broad.mit.edu	37	20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|CEP250_ENST00000342580.4_Intron	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557000													9	77					0	0	0.000442599	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													3	11					0	0	0.00024832	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308000													11	30					3.86212e-05	0.000147609	0.000673444	1	0
ZNF844	284391	broad.mit.edu	37	19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383000													7	21					0	0	0.00198382	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493000													10	113					0	0	0.000442599	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993766	45993766	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr21:45993766C>A	ENST00000400374.3	+	1	161	c.131C>A	c.(130-132)cCc>cAc	p.P44H	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	44	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TGCTGCGCCCCCAGCTGCTGC	0.711000													15	27					3.8784e-16	1.70144e-15	0.00188189	1	0
ZNF486	90649	broad.mit.edu	37	19	20308131	20308131	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358000													18	38					0	0	0.00074312	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647000													12	21					0	0	0.00185496	0	0
ITPR1	3708	broad.mit.edu	37	3	4768850	4768850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:4768850A>G	ENST00000302640.8	+	41	5518	c.5168A>G	c.(5167-5169)cAt>cGt	p.H1723R	ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.H1723R|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1738					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGAAGACCATAAAAGGGTA	0.478000													17	43					0	0	0.00152264	0	0
CCDC117	150275	broad.mit.edu	37	22	29169754	29169754	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:29169754A>T	ENST00000443309.2	+	0	122				CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000249064.4_Missense_Mutation_p.E76V|CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V			Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117											breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373000													9	11					0	0	0.000442599	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	rs116485187	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:35245154C>T	ENST00000360310.1	-	18	3371	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R935H	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353000													10	29					0	0	0.000442599	0	0
SKAP1	8631	broad.mit.edu	37	17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463000													12	70					0	0	0.00185496	0	0
LPPR4	9890	broad.mit.edu	37	1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L|LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537000													23	47					0	0	0.00278032	0	0
CECR2	27443	broad.mit.edu	37	22	18031816	18031816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr22:18031816C>T	ENST00000262608.8	+	17	4315	c.4315C>T	c.(4315-4317)Ccc>Tcc	p.P1439S	CECR2_ENST00000400573.4_Missense_Mutation_p.P1438S|CECR2_ENST00000400585.2_Missense_Mutation_p.P1296S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1480					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCCAACACTTCCCCTGGATCA	0.498000													12	32					0	0	0.00136819	0	0
PGAP1	80055	broad.mit.edu	37	2	197767327	197767327	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:197767327G>T	ENST00000354764.3	-	5	903	c.789C>A	c.(787-789)acC>acA	p.T263T	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000409188.1_Silent_p.T221T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	263					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAAGGCACTGGTATGATGGC	0.358000													16	37					2.48551e-13	1.07634e-12	0.000566183	1	0
ARPP21	10777	broad.mit.edu	37	3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463000													33	61					0	0	0.00178596	0	0
MYH8	4626	broad.mit.edu	37	17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	75					0	0	0.00127121	0	0
CDH9	1007	broad.mit.edu	37	5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318000													7	28					0	0	0.00198382	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94669495	94669495	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGAATTCCAATGTTAGTTC	0.338000													7	26					0	0	0.000157383	0	0
ZNF568	374900	broad.mit.edu	37	19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:37441482G>A	ENST00000415168.1	+	5	1611	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	ZNF568_ENST00000333987.7_Missense_Mutation_p.C476Y|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			CCTTATGAATGCAGTGAATGT	0.393000													20	61					0	0	0.00121646	0	0
HFM1	164045	broad.mit.edu	37	1	91859650	91859650	+	Splice_Site	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494_splice	c.e4+1	p.R165_splice	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		taataattaCCTTTTCCGGAA	0.289000													9	10					0	0	0.000274275	0	0
PXDN	7837	broad.mit.edu	37	2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512000													34	202					0	0	0.00058488	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:128732697C>T	ENST00000296464.3	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V|HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368000													8	26					0	0	0.000157383	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382277	101382277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428000													11	58					1.33987e-11	5.68037e-11	0.000673444	1	0
PSG7	5676	broad.mit.edu	37	19	43433722	43433722	+	RNA	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:43433722T>A	ENST00000446844.3	-	0	670				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512000													138	254					0	0	0.000781405	0	0
ALPK3	57538	broad.mit.edu	37	15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGTGGATGCTGGGACACA	0.547000													9	26					5.4927e-09	2.27137e-08	0.000274275	1	0
HIVEP3	59269	broad.mit.edu	37	1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:41978886T>A	ENST00000372584.1	-	7	7020	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2002D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGCCTGTGGTTCTCGGGCCG	0.632000													30	44					0	0	0.001512	0	0
CD84	8832	broad.mit.edu	37	1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:160520798G>C	ENST00000368054.3	-	5	823	c.788C>G	c.(787-789)aCa>aGa	p.T263R	CD84_ENST00000368048.3_Missense_Mutation_p.T274R|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Missense_Mutation_p.T149R|CD84_ENST00000311224.4_Missense_Mutation_p.T280R	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423000													20	318					0	0	0.00121646	0	0
RGPD4	285190	broad.mit.edu	37	2	108488441	108488441	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393000													17	233					0	0	0.00278032	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451254	25451254	+	RNA	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:25451254C>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						GAGGAAGACCCCGTGGCTCTG	0.642000													13	17					7.03913e-09	2.89897e-08	0.00136819	1	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	62					0	0	0.00116845	0	0
PLG	5340	broad.mit.edu	37	6	161159606	161159606	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403000													30	60					0	0	0.000814825	0	0
FCN1	2219	broad.mit.edu	37	9	137809628	137809628	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572000													23	42					0	0	0.000720815	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:70620403C>A	ENST00000310613.2	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299000													28	70					9.65021e-13	4.16114e-12	0.00209593	1	0
RXRG	6258	broad.mit.edu	37	1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567000													18	22					0	0	0.00121646	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:73000493G>A	ENST00000322038.5	+	2	3580	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.R1044Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532000													24	53					0	0	0.000586117	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582000													4	51					0	0	0.00024832	0	0
ROCK2	9475	broad.mit.edu	37	2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTACCATGCCTGTCTGCATG	0.373000													54	130					0	0	0.000781405	0	0
FAT1	2195	broad.mit.edu	37	4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418000										HNSCC(5;0.00058)			15	36					0	0	0.00121646	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522000													12	24					0	0	0.00136819	0	0
LIX1	167410	broad.mit.edu	37	5	96478236	96478236	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453000													6	55					0	0	0.000157383	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	rs144000682	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488000													23	57					0	0	0.00278032	0	0
TMCC2	9911	broad.mit.edu	37	1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592000													4	45					0	0	0.00024832	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:95513821G>A	ENST00000432432.2	-	0	790					NR_040113.1																						TGTCTTGAGCGAAGACATCAA	0.353000													43	705					0	0	0.0025221	0	0
NRP2	8828	broad.mit.edu	37	2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:206590770G>T	ENST00000360409.3	+	6	1745	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C|NRP2_ENST00000357785.5_Missense_Mutation_p.W318C|NRP2_ENST00000417189.1_Missense_Mutation_p.W318C|NRP2_ENST00000540841.1_Missense_Mutation_p.W318C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	318	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522000													15	40					1.52009e-12	6.49903e-12	0.000308642	1	0
SI	6476	broad.mit.edu	37	3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTTCTCTGGCCCACCACTC	0.383000										HNSCC(35;0.089)			18	57					1.45105e-14	6.31082e-14	0.00074312	1	0
NSA2	10412	broad.mit.edu	37	5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328000													5	9					0	0	0.00198382	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512000													10	23					2.74318e-10	1.14375e-09	0.000442599	1	0
MYPN	84665	broad.mit.edu	37	10	69925475	69925475	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000540630.1_Silent_p.L500L|MYPN_ENST00000354393.2_Silent_p.L225L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTTGCACCTTGGTCATTGCTG	0.413000													5	44					0	0	0.00198382	0	0
BRCA1	672	broad.mit.edu	37	17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	rs70953661		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:41222997C>A	ENST00000309486.4	-	14	5073	c.4046G>T	c.(4045-4047)aGg>aTg	p.R1349M	BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645M|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			59	64					3.00063e-23	1.3762e-22	0.000781405	1	0
GRB10	2887	broad.mit.edu	37	7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:50682481C>A	ENST00000403097.1	-	11	1843	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000401949.1_Missense_Mutation_p.G361W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587000									Russell-Silver syndrome				31	68					8.16721e-17	3.59856e-16	0.00209593	1	0
TEK	7010	broad.mit.edu	37	9	27218815	27218815	+	Splice_Site	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103_splice	c.e20+1	p.G1035_splice	TEK_ENST00000406359.4_Splice_Site_p.G992_splice|TEK_ENST00000519097.1_Splice_Site_p.G887_splice	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGTTAGCTTAGGTGAGTATCT	0.463000													13	32					6.72482e-11	2.8155e-10	0.000308642	1	0
GABRA6	2559	broad.mit.edu	37	5	161128536	161128536	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:161128536G>A	ENST00000523217.1	+	9	1331	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	GABRA6_ENST00000274545.5_Silent_p.R373R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			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)	TGAAGAAAAGGATCACTTCTC	0.398000										TCGA Ovarian(5;0.080)			22	62					0	0	0.00047179	0	0
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507000													7	103					0	0	0.000274275	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138424	126138424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:126138424A>G	ENST00000299308.3	+	9	2413	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCAATGATATTGAGGGC	0.478000													6	58					0	0	0.00116845	0	0
EIF3M	10480	broad.mit.edu	37	11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	200						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393000													13	25					0.000219431	0.000832354	0.00244969	1	0
CADM1	23705	broad.mit.edu	37	11	115102137	115102137	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:115102137G>A	ENST00000542447.2	-	4	626	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000452722.2_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	166	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458000													29	56					0	0	0.001512	0	0
CES2	8824	broad.mit.edu	37	16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGTTTCTTTGGGGGCAACTAC	0.527000													8	47					0	0	0.000274275	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633784	70633784	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000356921.2_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488000													45	106					1.7489e-18	7.87788e-18	0.00285205	1	0
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453000													19	35					1.1804e-14	5.15593e-14	0.000586117	1	0
ZNF608	57507	broad.mit.edu	37	5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473000													46	94					8.20599e-20	3.74653e-19	0.00285205	1	0
CASK	8573	broad.mit.edu	37	X	41390289	41390289	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chrX:41390289G>A	ENST00000318588.9	-	25	2521	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000378163.1_Silent_p.L831L|CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000421587.2_Silent_p.L802L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512000													28	12					0	0	0.000878237	0	0
FAR2	55711	broad.mit.edu	37	12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:29469874G>A	ENST00000182377.4	+	9	1324	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Nonsense_Mutation_p.W352*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498000													17	215					0	0	0.00121646	0	0
LYST	1130	broad.mit.edu	37	1	235904812	235904812	+	Silent	SNP	G	G	A	rs141534829	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438000													6	94					0	0	0.00116845	0	0
MLLT10	8028	broad.mit.edu	37	10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:22021981C>T	ENST00000377072.3	+	19	2768	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	MLLT10_ENST00000307729.7_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	807					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338000			T	"""MLL, PICALM, CDK6"""	AL								7	67					0	0	0.000157383	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388000													27	51					1.88708e-17	8.35117e-17	0.001512	1	0
KIAA1244	57221	broad.mit.edu	37	6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	220					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTGCAAGCCGCCATAAAGTA	0.453000													5	14					1.23904e-05	4.86456e-05	0.000602214	1	0
MAN2A2	4122	broad.mit.edu	37	15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:91455444A>C	ENST00000360468.3	+	14	2299	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000559717.1_Missense_Mutation_p.S761R	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637000													30	66					0	0	0.00127121	0	0
ING2	3622	broad.mit.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGGAAATGGTATTGCCCAA	0.388000													4	30					0	0	0.00024832	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SNAPC2_ENST00000595035.1_3'UTR|SNAPC2_ENST00000597584.1_5'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGGCCTTCAGGGACCAAGGCG	0.657000													21	36					0	0	0.00152264	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:102292797C>G	ENST00000561463.1	+	0	843																		p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000													4	25					0	0	0.000602214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203008176	203008176	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:203008176C>T	ENST00000367240.2	+	2	567	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000447715.2_Silent_p.L14L|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGGGGACCGCCTGGGTCCCCC	0.622000											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0.00024832	0	0
EPS8L2	64787	broad.mit.edu	37	11	720677	720677	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000318562.8_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000530636.1_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677000													5	7					0	0	0.00116845	0	0
NECAB3	63941	broad.mit.edu	37	20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706000													4	9					0	0	0.00024832	0	0
CCER1	196477	broad.mit.edu	37	12	91348312	91348312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:91348312G>T	ENST00000358859.2	-	1	641	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGGCCGTGCTGTTGCTTCGGC	0.642000													12	16					1.08611e-07	4.38353e-07	0.000978159	1	0
SDK1	221935	broad.mit.edu	37	7	4185403	4185403	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCTTCACCACCGTGGAGG	0.657000													9	60					1.76689e-08	7.24714e-08	0.000442599	1	0
SOX5	6660	broad.mit.edu	37	12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:23999030G>A	ENST00000546136.1	-	2	331	c.329C>T	c.(328-330)tCc>tTc	p.S110F	SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000451604.2_Missense_Mutation_p.S123F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493000													33	53					0	0	0.0024448	0	0
GLIPR1	11010	broad.mit.edu	37	12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378000													3	24					0	0	6.4e-05	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168472	142168472	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:142168472G>A	ENST00000454561.2	-	0	451																											CTGGAGACCTGAGAATCTAGG	0.537000													54	70					0	0	0.000781405	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:11105592C>A	ENST00000358026.2	+	9	1792	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532000			"""F, N, Mis"""		NSCLC								4	21					3.86212e-05	0.000147609	0.000673444	1	0
TTC18	118491	broad.mit.edu	37	10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:75059376C>T	ENST00000401621.2	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.G505E|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	505							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363000													14	27					0	0	0.00074312	0	0
EN1	2019	broad.mit.edu	37	2	119603946	119603946	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637000													5	14					0	0	0.000602214	0	0
CA10	56934	broad.mit.edu	37	17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:49726560G>C	ENST00000451037.2	-	6	1557	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000285273.4_Missense_Mutation_p.T206R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTTATTCTTGTGATAGTATC	0.383000													5	62					0	0	0.000602214	0	0
IL36A	27179	broad.mit.edu	37	2	113764229	113764229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113764229G>C	ENST00000259211.6	+	3	590	c.179G>C	c.(178-180)gGg>gCg	p.G60A		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAAGACAGAGGGAACCCCATC	0.527000													61	221					0	0	0.000781405	0	0
ZNF808	388558	broad.mit.edu	37	19	53058290	53058290	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413000													19	250					0	0	0.00121646	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468000													11	163					0	0	0.00185496	0	0
SCIN	85477	broad.mit.edu	37	7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000519209.1_Missense_Mutation_p.V222A|SCIN_ENST00000445618.2_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACAGGCTGTGCAGGTTGGG	0.468000													4	8					0	0	0.000602214	0	0
LGR6	59352	broad.mit.edu	37	1	202287594	202287594	+	Silent	SNP	G	G	A	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000255432.7_Silent_p.A669A|LGR6_ENST00000439764.2_Silent_p.A582A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667000													10	33					0	0	0.000442599	0	0
NAA15	80155	broad.mit.edu	37	4	140309172	140309172	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388000													13	25					0	0	0.00136819	0	0
OR8S1	341568	broad.mit.edu	37	12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498000													22	49					0	0	0.00278032	0	0
FAM71B	153745	broad.mit.edu	37	5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537000													25	34					0	0	0.00278032	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542000													18	59					0	0	0.00074312	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458000													11	54					0	0	0.000673444	0	0
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488000													36	74					5.43694e-19	2.46003e-18	0.00111076	1	0
TJP1	7082	broad.mit.edu	37	15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A|TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532000													76	109					0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113326782	113326782	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000343508.3_Silent_p.P2435P|CSMD3_ENST00000352409.3_Silent_p.P2405P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	23					0	0	0.000673444	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277066	71277066	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:71277066T>C	ENST00000398531.1	+	1	458	c.433T>C	c.(433-435)Tgt>Cgt	p.C145R	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.C97R	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	145	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTGCAATTGCTGTAAGCCctg	0.647000													47	102					0	0	0.000781405	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:533874T>A	ENST00000417302.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			22	55					0	0	0.00152264	0	0
LRRC14	9684	broad.mit.edu	37	8	145746352	145746352	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:145746352G>A	ENST00000292524.1	+	4	1118	c.972G>A	c.(970-972)gaG>gaA	p.E324E	LRRC14_ENST00000529022.1_Silent_p.E324E	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	324										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCCTGAGGACCTACGCT	0.637000													18	159					0	0	0.000566183	0	0
PAK7	57144	broad.mit.edu	37	20	9561116	9561116	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:9561116G>A	ENST00000378429.3	-	5	1212	c.666C>T	c.(664-666)gcC>gcT	p.A222A	PAK7_ENST00000353224.5_Silent_p.A222A|PAK7_ENST00000378423.1_Silent_p.A222A	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	222	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGCTACTCGAGGCTCTCTGAT	0.488000													15	35					0	0	0.000566183	0	0
N4BP3	23138	broad.mit.edu	37	5	177548532	177548532	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:177548532G>A	ENST00000274605.5	+	5	1524	c.1165G>A	c.(1165-1167)Gcg>Acg	p.A389T		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	389						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|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)			TGAAGCCCAGGCGGAACTGGC	0.622000													47	90					0	0	0.000781405	0	0
CHERP	10523	broad.mit.edu	37	19	16640580	16640580	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:16640580T>C	ENST00000546361.2	-	8	1159	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	CHERP_ENST00000198939.6_Silent_p.Q347Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	336	Gln-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgctgttgctgctgct	0.667000													3	40					0	0	6.4e-05	0	0
SENP6	26054	broad.mit.edu	37	6	76344481	76344481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:76344481C>T	ENST00000370014.3	+	5	1031	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	SENP6_ENST00000370010.2_Missense_Mutation_p.H138Y|SENP6_ENST00000327284.8_Missense_Mutation_p.H138Y|SENP6_ENST00000447266.2_Missense_Mutation_p.H138Y	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	138					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TAGACGTTTTCATCATGCTCA	0.353000													14	32					0	0	0.000308642	0	0
PLXND1	23129	broad.mit.edu	37	3	129303021	129303021	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:129303021G>A	ENST00000393239.1	-	7	2263	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A	PLXND1_ENST00000324093.4_Silent_p.A695A			Q9Y4D7	PLXD1_HUMAN	plexin D1	695					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGTGAAATTGGCCTTGACGA	0.597000													5	6					0	0	0.000602214	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449192	104449192	+	Silent	SNP	G	G	A	rs144389302		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:104449192G>A	ENST00000361820.3	-	2	1590	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	330					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TTTCCATGTCGCAGCCAAACA	0.527000													11	26					0	0	0.000673444	0	0
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25213157C>T	ENST00000338094.6	+	3	250	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNURF_ENST00000577949.1_Silent_p.F63F|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000554227.2_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468000													4	60					0	0	0.000602214	0	0
LMBRD1	55788	broad.mit.edu	37	6	70428852	70428852	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:70428852G>C	ENST00000370577.3	-	8	987	c.758C>G	c.(757-759)tCa>tGa	p.S253*	LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S180*	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	253					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTCACTTTTGATTTAATCGT	0.353000													5	23					0	0	0.000602214	0	0
STARD13	90627	broad.mit.edu	37	13	33703125	33703125	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:33703125A>G	ENST00000336934.5	-	5	1805	c.1689T>C	c.(1687-1689)ccT>ccC	p.P563P	STARD13_ENST00000399365.3_Silent_p.P445P|STARD13_ENST00000255486.4_Silent_p.P555P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	563					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGACCCCAGGAGGCTCAGATT	0.473000													18	32					0	0	0.00074312	0	0
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:53762612C>T	ENST00000341702.3	+	1	1068	c.984C>T	c.(982-984)taC>taT	p.Y328Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443000													45	109					0	0	0.00285205	0	0
USP8	9101	broad.mit.edu	37	15	50788056	50788056	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:50788056G>C	ENST00000433963.1	+	18	3170	c.2670G>C	c.(2668-2670)cgG>cgC	p.R890R	USP8_ENST00000425032.3_Silent_p.R784R|USP8_ENST00000307179.4_Silent_p.R890R|USP8_ENST00000396444.3_Silent_p.R890R|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	890					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTGATAATCGGAAGAGATATA	0.318000													6	16					0	0	0.000157383	0	0
NSD1	64324	broad.mit.edu	37	5	176665392	176665392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:176665392C>A	ENST00000439151.2	+	7	4121	c.4076C>A	c.(4075-4077)tCa>tAa	p.S1359*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1090*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1256*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1090*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1359					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGGCTCAGTCAGAACTTGGA	0.542000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			78	34					1.03218e-28	4.6401e-28	0.000781405	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	62					0	0	0.00188189	0	0
CERS2	29956	broad.mit.edu	37	1	150941485	150941485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:150941485G>A	ENST00000271688.6	-	2	468	c.82C>T	c.(82-84)Cga>Tga	p.R28*	CERS2_ENST00000368954.5_Nonsense_Mutation_p.R28*|CERS2_ENST00000561294.1_Nonsense_Mutation_p.R28*|CERS2_ENST00000345896.4_Intron	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	28						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CGTCCATCTCGGTCTTCTAGA	0.527000													8	47					0	0	0.000157383	0	0
B4GALNT3	283358	broad.mit.edu	37	12	666883	666883	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:666883G>A	ENST00000266383.5	+	16	2503	c.2490G>A	c.(2488-2490)gaG>gaA	p.E830E		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	830						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ATAGCAGTGAGGACATGGATG	0.547000													14	21					0	0	0.00244969	0	0
PHKB	5257	broad.mit.edu	37	16	47627442	47627442	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr16:47627442T>C	ENST00000455779.1	+	12	1264	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	PHKB_ENST00000299167.8_Missense_Mutation_p.I367T|PHKB_ENST00000566044.1_Missense_Mutation_p.I360T|PHKB_ENST00000323584.5_Missense_Mutation_p.I367T			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	367					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATTTCCCATATTTTTCCTT	0.249000													10	18					0	0	0.000978159	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772188	39772188	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:39772188T>G	ENST00000328933.5	+	3	484	c.469T>G	c.(469-471)Tcc>Gcc	p.S157A	SYNGR1_ENST00000406293.3_Missense_Mutation_p.S157A|SYNGR1_ENST00000318801.4_Missense_Mutation_p.S157A|SYNGR1_ENST00000381535.4_Missense_Mutation_p.S158A	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CTCCTTTTTCTCCATCTTCAC	0.637000													35	51					0	0	0.00111076	0	0
DNAI2	64446	broad.mit.edu	37	17	72285736	72285736	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:72285736C>T	ENST00000579490.1	+	4	777	c.642C>T	c.(640-642)gaC>gaT	p.D214D	DNAI2_ENST00000582036.1_Silent_p.D157D|DNAI2_ENST00000311014.6_Silent_p.D157D|DNAI2_ENST00000446837.2_Silent_p.D157D|DNAI2_ENST00000307504.5_Silent_p.D14D			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	157					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCTGCAGGGACCCCCAGGAAA	0.547000									Kartagener syndrome				22	34					0	0	0.00188189	0	0
IL4	3565	broad.mit.edu	37	5	132015436	132015436	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:132015436G>A	ENST00000231449.2	+	3	279	c.214G>A	c.(214-216)Gct>Act	p.A72T	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Missense_Mutation_p.A56T	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	72					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CTTCTGCAGGGCTGCGACTGT	0.542000													63	124					0	0	0.000781405	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319765	21319765	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:21319765A>T	ENST00000583088.1	+	3	2006	c.1111A>T	c.(1111-1113)Agc>Tgc	p.S371C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.S371C	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCTGCTGCCCAGCGCCAACTC	0.607000										Prostate(3;0.18)			5	84					0	0	0.00198382	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033930	37033930	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:37033930G>A	ENST00000322716.5	-	1	865	c.639C>T	c.(637-639)aaC>aaT	p.N213N		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	213						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GATGAGTCAGGTTGATTATGG	0.517000													6	97					0	0	0.00116845	0	0
TSPY1	7258	broad.mit.edu	37	Y	9305927	9305927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrY:9305927C>G	ENST00000451548.1	+	3	629	c.583C>G	c.(583-585)Cct>Gct	p.P195A	AC006156.1_ENST00000450145.1_Intron|TSPY3_ENST00000440483.1_Intron|TSPY1_ENST00000423647.2_Missense_Mutation_p.P201A|AC006156.1_ENST00000423213.1_Intron	NM_001197242.1|NM_003308.3	NP_001184171.1|NP_003299.2	Q01534	TSPY1_HUMAN	testis specific protein, Y-linked 1	195			P -> R.		cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus	identical protein binding			lung(4)	4						AGAGAAGCATCCTGTTCATCT	0.443000													20	139					0	0	0.00188189	0	0
TINAG	27283	broad.mit.edu	37	6	54245333	54245333	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:54245333A>T	ENST00000259782.4	+	10	1356	c.1260A>T	c.(1258-1260)acA>acT	p.T420T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	420					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GATGGGGCACACTGAGAGGAG	0.358000													4	11					0	0	0.00024832	0	0
CACNG6	59285	broad.mit.edu	37	19	54496175	54496175	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:54496175G>C	ENST00000252729.2	+	1	634	c.44G>C	c.(43-45)cGg>cCg	p.R15P	CACNG6_ENST00000346968.2_Missense_Mutation_p.R15P|CACNG6_ENST00000352529.1_Missense_Mutation_p.R15P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736000													8	17					0	0	0.000157383	0	0
PON2	5445	broad.mit.edu	37	7	95039308	95039308	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:95039308G>A	ENST00000536183.1	-	6	846	c.663C>T	c.(661-663)caC>caT	p.H221H	PON2_ENST00000433091.2_Silent_p.H188H|PON2_ENST00000222572.3_Silent_p.H200H|PON2_ENST00000483292.1_5'UTR	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	200					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CATTTGCCCAGTGTAAGTTCA	0.373000													23	54					0	0	0.00229938	0	0
PGGT1B	5229	broad.mit.edu	37	5	114588910	114588910	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:114588910C>T	ENST00000419445.1	-	2	203	c.183G>A	c.(181-183)ttG>ttA	p.L61L	PGGT1B_ENST00000379615.3_Silent_p.L61L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	61					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTAAGGAATCCAACATATCCA	0.363000													11	50					0	0	0.00136819	0	0
HOXB2	3212	broad.mit.edu	37	17	46620658	46620658	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:46620658C>T	ENST00000330070.4	-	2	2010	c.843G>A	c.(841-843)ggG>ggA	p.G281G		NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	281					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCCGCCGGCCCCGCGCAGCG	0.711000													9	48					0	0	0.000274275	0	0
CERK	64781	broad.mit.edu	37	22	47103761	47103761	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:47103761G>A	ENST00000216264.8	-	6	806	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CERK_ENST00000541677.1_Missense_Mutation_p.R34W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	232	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATTCCAATCCGGAGGCTACTG	0.602000													16	109					0	0	0.000566183	0	0
CDCP1	64866	broad.mit.edu	37	3	45127378	45127378	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:45127378G>A	ENST00000296129.1	-	9	2397	c.2263C>T	c.(2263-2265)Ctg>Ttg	p.L755L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	755						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGGCTGCAGGAAGGAGCCG	0.577000													71	41					0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86394583	86394583	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:86394583T>C	ENST00000361669.2	+	2	1221	c.122T>C	c.(121-123)tTa>tCa	p.L41S	GRM3_ENST00000394720.2_Missense_Mutation_p.L39S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L41S|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	41					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACCTTGTTTTAGGGGGCCTG	0.413000													23	48					0	0	0.00229938	0	0
TTYH2	94015	broad.mit.edu	37	17	72233624	72233624	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:72233624C>T	ENST00000269346.4	+	4	680	c.606C>T	c.(604-606)tcC>tcT	p.S202S	TTYH2_ENST00000529107.1_Silent_p.S181S	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	202						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCAAGCTATCCGACCAGACTG	0.572000													7	64					0	0	0.000157383	0	0
FAM184A	79632	broad.mit.edu	37	6	119338093	119338093	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:119338093T>C	ENST00000338891.7	-	5	1792	c.1349A>G	c.(1348-1350)aAg>aGg	p.K450R	FAM184A_ENST00000522284.1_Missense_Mutation_p.K330R|FAM184A_ENST00000521531.1_Missense_Mutation_p.K450R|FAM184A_ENST00000368475.4_Missense_Mutation_p.K330R|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.K330R	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTGAGTTCTCTTTGCTTCATT	0.333000													11	35					0	0	0.000673444	0	0
FAM83H	286077	broad.mit.edu	37	8	144808544	144808544	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:144808544G>A	ENST00000388913.3	-	5	3212	c.3087C>T	c.(3085-3087)aaC>aaT	p.N1029N		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1029					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGTACAAGGCGTTGGCCGTGG	0.692000													5	10					0	0	0.000602214	0	0
MTUS1	57509	broad.mit.edu	37	8	17611496	17611496	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:17611496G>C	ENST00000381869.3	-	2	2294	c.1821C>G	c.(1819-1821)gcC>gcG	p.A607A	MTUS1_ENST00000262102.6_Silent_p.A607A|MTUS1_ENST00000519263.1_Silent_p.A607A|MTUS1_ENST00000381862.3_Silent_p.A607A	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	607						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		p.A607A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCGATTTCACGGCAGATGTTG	0.433000													5	167					0	0	0.000602214	0	0
OR4K5	79317	broad.mit.edu	37	14	20389043	20389043	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:20389043C>A	ENST00000315915.4	+	1	303	c.278C>A	c.(277-279)tCt>tAt	p.S93Y		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGACCATATCTTTCAGTGGC	0.418000													57	295					8.99859e-20	3.99032e-19	0.000781405	1	0
PDGFC	56034	broad.mit.edu	37	4	157689065	157689065	+	Missense_Mutation	SNP	C	C	T	rs141820181		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:157689065C>T	ENST00000502773.1	-	5	1271	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K	PDGFC_ENST00000541126.1_Missense_Mutation_p.E98K|PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.E106K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	261					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	p.E261K(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TTTAGTTCTTCCCTTATGGAC	0.438000													38	90					0	0	0.00148497	0	0
JPH1	56704	broad.mit.edu	37	8	75227563	75227563	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:75227563G>C	ENST00000342232.4	-	2	712	c.672C>G	c.(670-672)cgC>cgG	p.R224R		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	224					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATTCGGACTTGCGAAGTTTCA	0.582000													9	104					0	0	0.00136819	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122280508	122280508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:122280508T>A	ENST00000398250.1	+	5	698	c.346T>A	c.(346-348)Tgc>Agc	p.C116S	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.C106S|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.C116S|PPAPDC1A_ENST00000398248.1_Intron	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	116					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		CTTTTACCGCTGCTTTCCAGA	0.512000													21	57					0	0	0.00188189	0	0
RALGDS	5900	broad.mit.edu	37	9	136037789	136037789	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:136037789C>T	ENST00000542690.1	-	2	291	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	GBGT1_ENST00000372036.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372043.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372038.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000372040.3_Missense_Mutation_p.R4Q|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Missense_Mutation_p.R4Q			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGCCAGTCTCCGGCGATGCAT	0.662000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								5	15					0	0	0.00116845	0	0
IKZF2	22807	broad.mit.edu	37	2	213878608	213878608	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:213878608T>C	ENST00000457361.1	-	7	931	c.763A>G	c.(763-765)Att>Gtt	p.I255V	IKZF2_ENST00000434687.1_Missense_Mutation_p.I255V|IKZF2_ENST00000374327.4_Missense_Mutation_p.I110V|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.I229V|IKZF2_ENST00000342002.2_Missense_Mutation_p.I261V|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.I183V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACCAGAGAAATATTGTTGTCC	0.388000													38	70					0	0	0.00148497	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124410	31124410	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:31124410T>A	ENST00000304166.4	+	8	786	c.497T>A	c.(496-498)gTc>gAc	p.V166D	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V166D|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V145D	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	166					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACATCCCTCGTCACCCTCACC	0.557000													30	79					0	0	0.000814825	0	0
HEATR1	55127	broad.mit.edu	37	1	236714247	236714247	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:236714247C>T	ENST00000366582.3	-	45	6504	c.6390G>A	c.(6388-6390)caG>caA	p.Q2130Q	LGALS8_ENST00000366584.4_3'UTR|HEATR1_ENST00000366581.2_Silent_p.Q2049Q|LGALS8_ENST00000526589.1_3'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2130					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTCCAGTTGCTGAATAGTCT	0.373000													30	38					0	0	0.0024448	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806191	93806191	+	Splice_Site	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:93806191T>G	ENST00000315765.9	+	7	1241	c.1232_splice	c.e7-1	p.S411_splice		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	411	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTCTTTTCAGTGACTCTGATC	0.368000													8	21					0	0	0.000274275	0	0
SURF4	6836	broad.mit.edu	37	9	136234223	136234223	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:136234223G>A	ENST00000371989.3	-	2	276	c.147C>T	c.(145-147)agC>agT	p.S49S	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Silent_p.S49S|SURF4_ENST00000371991.3_Silent_p.S49S|SURF4_ENST00000545297.1_Silent_p.S49S	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	49						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGCGCTGCTCGCTCCACTGGA	0.597000													22	25					0	0	0.00278032	0	0
MAN2A2	4122	broad.mit.edu	37	15	91455444	91455444	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:91455444A>C	ENST00000360468.3	+	14	2299	c.2281A>C	c.(2281-2283)Agc>Cgc	p.S761R	MAN2A2_ENST00000559717.1_Missense_Mutation_p.S761R|MAN2A2_ENST00000430376.2_5'UTR|MAN2A2_ENST00000431652.2_Missense_Mutation_p.S269R	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	761					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTCTGGCACCAGCGACTTCGC	0.637000													30	66					0	0	0.00127121	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518983	113518983	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:113518983T>C	ENST00000284601.3	-	4	2232	c.2164A>G	c.(2164-2166)Act>Gct	p.T722A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	722					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTTTCTCAGTAATGCCATGA	0.388000													3	139					0	0	0.00024832	0	0
NXPE3	91775	broad.mit.edu	37	3	101535734	101535734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:101535734C>T	ENST00000422132.1	+	4	1215	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	NXPE3_ENST00000273347.5_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000491511.1_Nonsense_Mutation_p.Q340*|NXPE3_ENST00000477909.1_Nonsense_Mutation_p.Q340*					neurexophilin and PC-esterase domain family, member 3																		TAAGATGCGTCAGTTTAATGA	0.393000													7	92					0	0	0.00198382	0	0
C11orf84	144097	broad.mit.edu	37	11	63585325	63585325	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:63585325C>A	ENST00000294244.4	+	2	475	c.176C>A	c.(175-177)gCa>gAa	p.A59E		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	59										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCGCTAGAGGCAGGCAGTGAT	0.637000													4	12					2.56e-06	9.95556e-06	0.00024832	1	0
OXGR1	27199	broad.mit.edu	37	13	97639754	97639754	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:97639754G>T	ENST00000298440.1	-	4	503	c.260C>A	c.(259-261)cCc>cAc	p.P87H	OXGR1_ENST00000543457.1_Missense_Mutation_p.P87H	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	87						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AATCAGGAAGGGGAGGCTGGT	0.453000													10	16					2.17888e-05	8.30856e-05	0.000442599	1	0
SMARCA4	6597	broad.mit.edu	37	19	11141507	11141507	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:11141507G>T	ENST00000358026.2	+	25	3768	c.3484G>T	c.(3484-3486)Ggc>Tgc	p.G1162C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1162C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1162C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1162C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1162C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1162C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1162	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGGGGGGCTCGGCCTGAACCT	0.607000			"""F, N, Mis"""		NSCLC								6	7					3.59834e-05	0.000136153	0.00116845	1	0
BTRC	8945	broad.mit.edu	37	10	103291078	103291078	+	Silent	SNP	A	A	T	rs146435684		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:103291078A>T	ENST00000370187.3	+	7	946	c.828A>T	c.(826-828)atA>atT	p.I276I	BTRC_ENST00000393441.4_Silent_p.I235I|BTRC_ENST00000408038.2_Silent_p.I240I	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	276					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTAAAATTATACAAGACATTG	0.368000													24	50					0	0	0.00278032	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933565	31933565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:31933565C>T	ENST00000334849.2	-	1	68	c.44G>A	c.(43-45)tGt>tAt	p.C15Y		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GAATCCTCCACAGCCGTAGCC	0.552000													23	75					0	0	0.00278032	0	0
ZEB2	9839	broad.mit.edu	37	2	145156077	145156077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:145156077G>A	ENST00000558170.2	-	8	3861	c.2677C>T	c.(2677-2679)Cct>Tct	p.P893S	ZEB2_ENST00000303660.4_Missense_Mutation_p.P893S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P869S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P893S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	893						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.P893S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTGTATAAAGGTTTGGCACTA	0.438000													9	177					0	0	0.000673444	0	0
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:37881982G>A	ENST00000406381.2	+	25	3168	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	64					0	0	0.00116845	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906364	906364	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:906364G>A	ENST00000379409.2	+	5	740	c.710G>A	c.(709-711)cGc>cAc	p.R237H	PLEKHN1_ENST00000379410.3_Missense_Mutation_p.R197H|PLEKHN1_ENST00000379407.2_Missense_Mutation_p.R197H			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	237										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGGCCGCGGCGCTGCCACTCG	0.736000													5	10					0	0	0.00116845	0	0
NCAPG2	54892	broad.mit.edu	37	7	158449250	158449250	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:158449250C>T	ENST00000409339.3	-	18	2321	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	NCAPG2_ENST00000275830.10_Silent_p.Q528Q|NCAPG2_ENST00000356309.3_Silent_p.Q736Q|NCAPG2_ENST00000541468.1_Silent_p.Q237Q|NCAPG2_ENST00000449727.2_Silent_p.Q736Q|NCAPG2_ENST00000409423.1_Silent_p.Q736Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	736					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTACCTTGGCCTGGGCATGCT	0.468000													7	55					0	0	0.00198382	0	0
TEX13A	56157	broad.mit.edu	37	X	104464103	104464103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:104464103G>T	ENST00000372578.3	-	3	886	c.775C>A	c.(775-777)Cct>Act	p.P259T	IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.P259T|TEX13A_ENST00000413579.1_Missense_Mutation_p.T258N	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCCAATAGGTGTACTTTTC	0.562000													15	5					1.15088e-07	4.52956e-07	0.000422831	1	0
HOXC9	3225	broad.mit.edu	37	12	54396248	54396248	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:54396248C>A	ENST00000303450.4	+	2	643	c.573C>A	c.(571-573)tcC>tcA	p.S191S	HOXC9_ENST00000508190.1_Silent_p.S191S|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	191					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGCCCGCTCCACGAGGAAGA	0.567000													6	109					5.18039e-06	2.00663e-05	0.000157383	1	0
TARDBP	23435	broad.mit.edu	37	1	11082376	11082376	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:11082376G>A	ENST00000240185.3	+	6	1024	c.910G>A	c.(910-912)Ggt>Agt	p.G304S	TARDBP_ENST00000315091.3_Intron|TARDBP_ENST00000439080.2_Missense_Mutation_p.G188S	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	304	Gly-rich.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAACAATCAAGGTAGTAATAT	0.498000													6	60					0	0	0.00198382	0	0
TMEM168	64418	broad.mit.edu	37	7	112407741	112407741	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:112407741G>C	ENST00000312814.5	-	5	2165	c.1605C>G	c.(1603-1605)tcC>tcG	p.S535S	TMEM168_ENST00000454074.1_Silent_p.S535S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	535						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGGAACAAAAGGAACCATTCT	0.403000													17	41					0	0	0.000566183	0	0
GLB1	2720	broad.mit.edu	37	3	33059966	33059966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:33059966C>T	ENST00000307363.5	-	13	1465	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.D489N|GLB1_ENST00000399402.3_Missense_Mutation_p.D411N|GLB1_ENST00000307377.8_Missense_Mutation_p.D310N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	441			D -> N (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TATGCTCGATCGTGGACTCCA	0.507000													16	70					0	0	0.00074312	0	0
GHSR	2693	broad.mit.edu	37	3	172165726	172165726	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:172165726C>T	ENST00000241256.2	-	1	520	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	GHSR_ENST00000427970.1_Missense_Mutation_p.V160M	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	160					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCAGCTTCACCCGCCCCTTG	0.652000													6	53					0	0	0.00116845	0	0
PIWIL3	440822	broad.mit.edu	37	22	25131809	25131809	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:25131809G>A	ENST00000332271.5	-	13	1916	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PIWIL3_ENST00000533313.1_Silent_p.P391P|PIWIL3_ENST00000527701.1_Silent_p.P391P|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	500					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CATTAAGTAAGGGTAATTCTC	0.383000													39	103					0	0	0.00111076	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202653	140202653	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140202653G>A	ENST00000529859.1	+	1	1293	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.S431S|PCDHA5_ENST00000378126.3_Silent_p.S431S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGGGGCTCGCCTTCGCTGT	0.647000													12	150					0	0	0.000978159	0	0
FAT3	120114	broad.mit.edu	37	11	92532912	92532912	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:92532912C>T	ENST00000298047.6	+	9	6750	c.6733C>T	c.(6733-6735)Cct>Tct	p.P2245S	FAT3_ENST00000525166.1_Missense_Mutation_p.P2095S|FAT3_ENST00000409404.2_Missense_Mutation_p.P2245S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2245	Cadherin 20.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTTGTTAGCCCTTTGGATTA	0.438000										TCGA Ovarian(4;0.039)			7	16					0	0	0.00198382	0	0
MDN1	23195	broad.mit.edu	37	6	90384310	90384310	+	Splice_Site	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:90384310T>C	ENST00000369393.3	-	79	12877		c.e79-2		RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGAGGTTCCTGTACAGAGAA	0.507000													13	32					0	0	0.00244969	0	0
FLNA	2316	broad.mit.edu	37	X	153588903	153588903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:153588903C>T	ENST00000422373.1	-	22	3508	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	FLNA_ENST00000369850.3_Missense_Mutation_p.R1087H|FLNA_ENST00000360319.4_Missense_Mutation_p.R1087H|FLNA_ENST00000344736.4_Missense_Mutation_p.R1087H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1087					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	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)					GATGGTGAAGCGGGCGGGGGA	0.692000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	14					0	0	0.000602214	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222342	140222342	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140222342C>T	ENST00000531613.1	+	1	1436	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A479V|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTGTCTGCGCGAGACGCG	0.657000													32	18					0	0	0.000692331	0	0
C8B	732	broad.mit.edu	37	1	57422503	57422503	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:57422503A>G	ENST00000543257.1	-	4	740	c.174T>C	c.(172-174)tgT>tgC	p.C58C	C8B_ENST00000535057.1_Silent_p.C48C|C8B_ENST00000371237.4_Silent_p.C110C	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTGGTAACACAGTCTTCGA	0.498000													28	222					0	0	0.00127121	0	0
PBRM1	55193	broad.mit.edu	37	3	52637658	52637658	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:52637658A>G	ENST00000356770.4	-	16	2564	c.2562T>C	c.(2560-2562)ctT>ctC	p.L854L	PBRM1_ENST00000394830.3_Silent_p.L886L|PBRM1_ENST00000410007.1_Silent_p.L886L|PBRM1_ENST00000409114.3_Silent_p.L901L|PBRM1_ENST00000337303.4_Silent_p.L886L|PBRM1_ENST00000409767.1_Silent_p.L901L|PBRM1_ENST00000296302.7_Silent_p.L886L|PBRM1_ENST00000409057.1_Silent_p.L886L			Q86U86	PB1_HUMAN	polybromo 1	886	Bromo 6.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGGTGAAAGAAGAATCTCTC	0.343000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								9	29					0	0	0.000274275	0	0
NADK	65220	broad.mit.edu	37	1	1685535	1685535	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:1685535C>T	ENST00000344463.4	-	12	1712	c.1491G>A	c.(1489-1491)tcG>tcA	p.S497S	NADK_ENST00000341426.5_Silent_p.S352S|NADK_ENST00000342348.5_Silent_p.S320S|NADK_ENST00000341991.3_Silent_p.S352S|NADK_ENST00000378625.1_Silent_p.S497S			O95544	NADK_HUMAN	NAD kinase	352					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGAAGGACAGCGAGTGGGGGC	0.662000													9	77					0	0	0.000978159	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107957	42107957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:42107957G>C	ENST00000457542.2	+	12	1739	c.1453G>C	c.(1453-1455)Gga>Cga	p.G485R	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G324R|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G368R|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G485R|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G491R	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	491										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAGCCCCAATGGACAGCATCT	0.592000													10	26					0	0	0.000673444	0	0
FGFR4	2264	broad.mit.edu	37	5	176517973	176517973	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:176517973G>C	ENST00000292408.4	+	5	716	c.471G>C	c.(469-471)aaG>aaC	p.K157N	FGFR4_ENST00000502906.1_Missense_Mutation_p.K157N|FGFR4_ENST00000393648.2_Missense_Mutation_p.K157N|FGFR4_ENST00000393637.1_Missense_Mutation_p.K157N|FGFR4_ENST00000292410.3_Missense_Mutation_p.K157N	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	157	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCATGGAGAAGAAACTGCATG	0.612000										TSP Lung(9;0.080)			5	48					0	0	0.000602214	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294944	55294944	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:55294944C>T	ENST00000336077.6	+	7	864	c.824C>T	c.(823-825)gCg>gTg	p.A275V	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.A301V|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.A275V|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	275					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ACAGATGCTGCGGTAATGGAC	0.517000													11	55					0	0	0.00152264	0	0
CCDC50	152137	broad.mit.edu	37	3	191093190	191093190	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:191093190G>A	ENST00000392456.3	+	6	1378	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	283						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488000													13	33					0	0	0.00185496	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													5	56					0	0	0.00198382	0	0
TECPR2	9895	broad.mit.edu	37	14	102900897	102900897	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:102900897G>T	ENST00000359520.7	+	9	1969	c.1743G>T	c.(1741-1743)ctG>ctT	p.L581L	TECPR2_ENST00000558678.1_Silent_p.L581L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	581							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GGCGGGAGCTGCTCAATGGAG	0.532000													11	30					1.58986e-06	6.20744e-06	0.000673444	1	0
COL3A1	1281	broad.mit.edu	37	2	189870100	189870100	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:189870100A>T	ENST00000304636.3	+	41	3126	c.2956A>T	c.(2956-2958)Aac>Tac	p.N986Y	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	986	Triple-helical region.			ANGLS -> PSGQN (in Ref. 20; AA sequence).	axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAGGAGCTAACGGTCTCAG	0.433000													52	62					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152423805	152423805	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:152423805G>A	ENST00000397345.3	-	114	18235	c.18033C>T	c.(18031-18033)gcC>gcT	p.A6011A	NEB_ENST00000604864.1_Silent_p.A6011A|NEB_ENST00000172853.10_Silent_p.A4310A|NEB_ENST00000409198.1_Silent_p.A4310A|NEB_ENST00000427231.2_Silent_p.A6011A|NEB_ENST00000603639.1_Silent_p.A6011A	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6028					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGCTTGGCGGCCAAGACTG	0.438000													52	53					0	0	0.000781405	0	0
IL19	29949	broad.mit.edu	37	1	206972269	206972269	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:206972269A>T	ENST00000340758.2	+	1	55	c.30A>T	c.(28-30)agA>agT	p.R10S		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCCGCACAGATCTGCGTGTT	0.478000													34	80					0	0	0.000814825	0	0
PARP10	84875	broad.mit.edu	37	8	145060329	145060329	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:145060329C>T	ENST00000313028.7	-	2	169	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PARP10_ENST00000525773.1_Silent_p.E37E|PARP10_ENST00000524918.1_Silent_p.E25E|PARP10_ENST00000533665.1_Intron	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	25						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGTGAGCAGCTCGTCGGGCA	0.657000													12	63					0	0	0.000308642	0	0
TENM3	55714	broad.mit.edu	37	4	183601503	183601503	+	Splice_Site	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:183601503G>A	ENST00000511685.1	+	9	1762		c.e9+1		TENM3_ENST00000502950.1_Splice_Site|TENM3_ENST00000406950.2_Splice_Site					teneurin transmembrane protein 3																		TGTTCAAGAGGTATGCAAGTT	0.443000													8	19					0	0	0.000274275	0	0
AC015849.16	0	broad.mit.edu	37	17	34234112	34234112	+	RNA	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:34234112G>T	ENST00000587132.1	-	0	3915																											GGGGCCGCCTGCTGGGCTGGA	0.517000													8	57					1.06961e-07	4.24381e-07	0.000157383	1	0
CTNNB1	1499	broad.mit.edu	37	3	41267196	41267196	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:41267196C>T	ENST00000349496.5	+	6	1060	c.780C>T	c.(778-780)caC>caT	p.H260H	CTNNB1_ENST00000396185.3_Silent_p.H260H|CTNNB1_ENST00000405570.1_Silent_p.H260H|CTNNB1_ENST00000396183.3_Silent_p.H260H|CTNNB1_ENST00000453024.1_Silent_p.H253H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	260					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CAACTCTCCACAACCTTTTAT	0.383000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				54	37					0	0	0.000781405	0	0
OR2L3	391192	broad.mit.edu	37	1	248224826	248224826	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:248224826T>C	ENST00000359959.3	+	1	843	c.843T>C	c.(841-843)acT>acC	p.T281T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CCACCCTCACTCCAATGCTCA	0.493000													4	109					0	0	0.000602214	0	0
SLC19A3	80704	broad.mit.edu	37	2	228560704	228560704	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:228560704C>T	ENST00000258403.3	-	4	1144	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G354D|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	358					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	AAATAAAGAACCGGCATTGAC	0.468000													29	86					0	0	0.00127121	0	0
TIAM2	26230	broad.mit.edu	37	6	155458488	155458488	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:155458488A>G	ENST00000461783.3	+	7	2645	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	TIAM2_ENST00000360366.4_Missense_Mutation_p.I458V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I458V|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.I458V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I458V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	458					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGGCAGAACATTTATGAGAA	0.507000													38	76					0	0	0.000953801	0	0
MME	4311	broad.mit.edu	37	3	154834497	154834497	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:154834497C>G	ENST00000460393.1	+	6	604	c.484C>G	c.(484-486)Cca>Gca	p.P162A	MME_ENST00000462745.1_Missense_Mutation_p.P162A|MME_ENST00000492661.1_Missense_Mutation_p.P162A|MME_ENST00000493237.1_Missense_Mutation_p.P162A|MME_ENST00000360490.2_Missense_Mutation_p.P162A	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	162					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAAACTGTTACCAGACATATA	0.363000													7	45					0	0	0.00198382	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731974	140731974	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140731974G>T	ENST00000523390.1	+	1	2147	c.2147G>T	c.(2146-2148)aGc>aTc	p.S716I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTCCTCCAGCCTCGACACT	0.582000													15	147					1.52009e-12	6.36619e-12	0.000308642	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157205	26157205	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:26157205G>A	ENST00000325250.1	+	2	290	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	35							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTGGCAGAAGGAGAGTCACC	0.587000													5	15					0	0	0.000602214	0	0
NOL4	8715	broad.mit.edu	37	18	31432903	31432903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:31432903T>C	ENST00000261592.5	-	11	2117	c.1820A>G	c.(1819-1821)aAt>aGt	p.N607S	NOL4_ENST00000269185.4_Missense_Mutation_p.N391S|NOL4_ENST00000589544.1_Missense_Mutation_p.N505S|NOL4_ENST00000535384.1_Missense_Mutation_p.N322S|NOL4_ENST00000538587.1_Missense_Mutation_p.N533S|NOL4_ENST00000535475.1_Missense_Mutation_p.N388S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	607						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCTCACGGCATTGATTTCAGT	0.468000													25	49					0	0	0.000878237	0	0
DNMT3A	1788	broad.mit.edu	37	2	25468197	25468197	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:25468197G>A	ENST00000264709.3	-	13	1816	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	DNMT3A_ENST00000402667.1_Silent_p.I270I|DNMT3A_ENST00000380746.4_Silent_p.I304I|DNMT3A_ENST00000321117.5_Silent_p.I493I	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	493	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGATGCAGATGTCTGGAA	0.602000			"""Mis, F, N, S"""		AML								34	36					0	0	0.00283554	0	0
TJP1	7082	broad.mit.edu	37	15	30033539	30033539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:30033539G>A	ENST00000346128.6	-	10	1726	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	TJP1_ENST00000400011.2_Missense_Mutation_p.L422F|TJP1_ENST00000545208.2_Missense_Mutation_p.L418F|TJP1_ENST00000356107.6_Missense_Mutation_p.L418F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TATTACCGAAGAATCCCATCT	0.338000													19	23					0	0	0.000958276	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													11	38					0	0	0.00136819	0	0
CDSN	1041	broad.mit.edu	37	6	31084822	31084822	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:31084822G>T	ENST00000376288.2	-	2	596	c.570C>A	c.(568-570)tcC>tcA	p.S190S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	190	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GTCCAGGCTGGGAAGGGTTTA	0.557000													38	36					3.62531e-18	1.57902e-17	0.000814825	1	0
CCDC40	55036	broad.mit.edu	37	17	78055742	78055742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:78055742G>T	ENST00000397545.4	+	12	1901	c.1874G>T	c.(1873-1875)aGg>aTg	p.R625M	CCDC40_ENST00000374877.3_Missense_Mutation_p.R625M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	625					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGAGCTCAGGAGGAAGACG	0.577000													9	36					3.09899e-07	1.2148e-06	0.000274275	1	0
ZNF585B	92285	broad.mit.edu	37	19	37677286	37677286	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:37677286T>A	ENST00000532828.2	-	5	1404	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S330C|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACAGTCACTGCATTCATAA	0.428000													10	56					0	0	0.000442599	0	0
ARNT	405	broad.mit.edu	37	1	150808901	150808901	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:150808901C>A	ENST00000358595.5	-	7	755	c.555G>T	c.(553-555)agG>agT	p.R185S	ARNT_ENST00000354396.2_Missense_Mutation_p.R185S|ARNT_ENST00000515192.1_Missense_Mutation_p.R176S|ARNT_ENST00000505755.1_Missense_Mutation_p.R170S|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	185	PAS 1.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity	p.R185R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATACACCACCCTGCCTGTCT	0.453000			T	ETV6	AML								11	40					3.86212e-05	0.000144461	0.000673444	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44217289	44217289	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:44217289C>T	ENST00000371554.1	+	3	537	c.323C>T	c.(322-324)tCt>tTt	p.S108F	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.S108F|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.S108F			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	108					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTGCCAAGTCTGGTACTAAA	0.418000													9	59					0	0	0.000442599	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:126138423G>T	ENST00000299308.3	+	9	2412	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGCAGCAATGATATTGAGGG	0.473000													6	57					3.59834e-05	0.000136153	0.00116845	1	0
C1orf173	127254	broad.mit.edu	37	1	75038758	75038758	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:75038758T>C	ENST00000326665.5	-	14	2854	c.2636A>G	c.(2635-2637)cAa>cGa	p.Q879R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	879	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATCAAGGCTTGCTTTTCAGG	0.527000													72	156					0	0	0.000781405	0	0
PRR12	57479	broad.mit.edu	37	19	50099588	50099588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:50099588G>A	ENST00000418929.2	+	4	2008	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	412	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCGAGGACGGGGCAGCAGA	0.672000													4	11					0	0	0.00198382	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115534710	115534710	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:115534710C>A	ENST00000354462.3	+	3	295	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	PLEKHS1_ENST00000361048.1_Missense_Mutation_p.S302Y|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.S214Y|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.S116Y|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.S296Y					pleckstrin homology domain containing, family S member 1																		TGGTGTCTTTCCCCTGCCGAT	0.488000													12	28					0.00010058	0.000374784	0.00136819	1	0
COL6A6	131873	broad.mit.edu	37	3	130380825	130380825	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:130380825G>T	ENST00000358511.6	+	34	6206	c.6175G>T	c.(6175-6177)Gct>Tct	p.A2059S	COL6A6_ENST00000453409.2_Missense_Mutation_p.A2059S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2059	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAATGGAGATGCTTTTATTGG	0.413000													14	42					3.27435e-08	1.30974e-07	0.00244969	1	0
CD1D	912	broad.mit.edu	37	1	158152775	158152775	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:158152775A>T	ENST00000368171.3	+	5	1214	c.715A>T	c.(715-717)Atg>Ttg	p.M239L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	239	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTGAAGTGGATGCGGGGTGA	0.627000													10	133					0	0	0.000673444	0	0
GPR119	139760	broad.mit.edu	37	X	129518927	129518927	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:129518927G>T	ENST00000276218.2	-	1	584	c.495C>A	c.(493-495)ttC>ttA	p.F165L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	165						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						GGGTCAGCACGAAGTGAGGGT	0.532000													21	13					2.54575e-18	1.11376e-17	0.00152264	1	0
RASSF4	83937	broad.mit.edu	37	10	45484754	45484754	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:45484754G>A	ENST00000334940.6	+	7	725	c.591G>A	c.(589-591)gtG>gtA	p.V197V	RASSF4_ENST00000340258.4_Silent_p.V188V|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000472561.1_3'UTR			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	188	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATGGATCCGTGACCAATGTGA	0.562000													11	31					0	0	0.00136819	0	0
MAPK11	5600	broad.mit.edu	37	22	50705870	50705870	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:50705870A>T	ENST00000330651.6	-	4	447	c.347T>A	c.(346-348)aTc>aAc	p.I116N	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.I8N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	116	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTTGACGATGTTGTTCAG	0.682000													9	12					0	0	0.000673444	0	0
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:70139220G>C	ENST00000388768.2	-	12	1597	c.1271C>G	c.(1270-1272)aCc>aGc	p.T424S	RUFY2_ENST00000399200.2_Missense_Mutation_p.T355S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T331S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T389S	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338000													8	64					0	0	0.000442599	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072947	55072947	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:55072947A>G	ENST00000262288.3	+	8	792	c.737A>G	c.(736-738)tAc>tGc	p.Y246C		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	246					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AAGGGGCTCTACAGAGAGGCC	0.498000													6	118					0	0	0.00116845	0	0
ZNF550	162972	broad.mit.edu	37	19	58058918	58058918	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:58058918C>G	ENST00000325134.5	-	3	754	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.E232Q|ZNF550_ENST00000506609.2_Missense_Mutation_p.E191Q			Q7Z398	ZN550_HUMAN	zinc finger protein 550	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATTGCATTCATAGGGTTTC	0.488000													16	38					0	0	0.000308642	0	0
COL11A1	1301	broad.mit.edu	37	1	103400075	103400075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:103400075C>T	ENST00000358392.2	-	46	3883	c.3566G>A	c.(3565-3567)gGg>gAg	p.G1189E	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1138E|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1177E|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1061E	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1177	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAAACATCCCCTGCTGTCC	0.448000													16	49					0	0	0.00074312	0	0
OR8S1	341568	broad.mit.edu	37	12	48920192	48920192	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:48920192C>G	ENST00000310194.1	+	1	778	c.778C>G	c.(778-780)Ctc>Gtc	p.L260V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCGCCATCTCATGCCAAA	0.498000													22	49					0	0	0.00278032	0	0
SYNE1	23345	broad.mit.edu	37	6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T8414M(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCAGCCGTTTGGGTTTC	0.478000										HNSCC(10;0.0054)			28	60					0	0	0.00058488	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050284	42050284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:42050284G>A	ENST00000372584.1	-	3	1199	c.185C>T	c.(184-186)cCc>cTc	p.P62L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P62L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P62L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P62L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	62					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AACTGATGAGGGGCCCGGGAA	0.622000													46	76					0	0	0.0025221	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633226	51633226	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:51633226G>T	ENST00000250360.3	+	7	1349	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	428					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTCAGTGGGGGAAGGAGAGCT	0.607000													9	77					0.000274275	0.00101049	0.000274275	1	0
SV2A	9900	broad.mit.edu	37	1	149876628	149876628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:149876628G>A	ENST00000369146.3	-	13	2657	c.2167C>T	c.(2167-2169)Ctt>Ttt	p.L723F		NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	723					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCAAGGGCAAGGGCAGCTGAG	0.602000													7	27					0	0	0.00198382	0	0
ATP10A	57194	broad.mit.edu	37	15	25959362	25959362	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25959362G>T	ENST00000356865.6	-	10	1914	c.1803C>A	c.(1801-1803)tcC>tcA	p.S601S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	601					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTTCACCGGGGACTTCAGCT	0.607000													16	31					6.31663e-08	2.51638e-07	0.000308642	1	0
PTPN21	11099	broad.mit.edu	37	14	88940131	88940131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:88940131G>A	ENST00000556564.1	-	14	2811	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	PTPN21_ENST00000328736.3_Nonsense_Mutation_p.R843*	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	843						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCATCTACTCGAGTCTTTTTC	0.398000													5	41					0	0	0.000602214	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869729	36869729	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:36869729G>A	ENST00000279024.4	-	3	1075	c.804C>T	c.(802-804)agC>agT	p.S268S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	268										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGAAGTCCTGGCTGACCACCT	0.572000													11	75					0	0	0.000978159	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156328	193156328	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:193156328C>G	ENST00000342695.4	-	23	2930	c.2608G>C	c.(2608-2610)Gca>Cca	p.A870P	ATP13A4_ENST00000392443.3_Missense_Mutation_p.A851P	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	870					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCCACAGATGCCTCCTGCTCT	0.443000													25	30					0	0	0.000720815	0	0
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:55220295A>T	ENST00000275493.2	+	6	862	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_ENST00000342916.3_Missense_Mutation_p.S229C|EGFR_ENST00000454757.2_Missense_Mutation_p.S176C|EGFR_ENST00000344576.2_Missense_Mutation_p.S229C|EGFR_ENST00000420316.2_Missense_Mutation_p.S229C|EGFR_ENST00000455089.1_Missense_Mutation_p.S184C|EGFR_ENST00000442591.1_Missense_Mutation_p.S229C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			56	85					0	0	0.000781405	0	0
CDK4	1019	broad.mit.edu	37	12	58142978	58142978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:58142978G>A	ENST00000257904.6	-	7	1171	c.806C>T	c.(805-807)gCa>gTa	p.A269V	CDK4_ENST00000549606.1_Missense_Mutation_p.A6V|CDK4_ENST00000540325.1_Missense_Mutation_p.A149V|CDK4_ENST00000312990.6_3'UTR|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	269	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGCAGCTGTGCTCCCGACTC	0.602000			Mis			melanoma			Hereditary Melanoma				18	74					0	0	0.00074312	0	0
APC2	10297	broad.mit.edu	37	19	1467216	1467216	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:1467216G>A	ENST00000535453.1	+	14	5629	c.3916G>A	c.(3916-3918)Ggg>Agg	p.G1306R	APC2_ENST00000233607.2_Missense_Mutation_p.G1306R|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.G1032R			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1306	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAgcgcggcgggggcgccgg	0.786000													4	11					0	0	0.00024832	0	0
TLE4	7091	broad.mit.edu	37	9	82320843	82320843	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:82320843G>C	ENST00000376520.4	+	10	1597	c.769G>C	c.(769-771)Gac>Cac	p.D257H	TLE4_ENST00000376552.2_Missense_Mutation_p.D257H|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.D257H|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000265284.6_Missense_Mutation_p.D232H			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGGTGGTTGACGTTTCCAA	0.398000													6	80					0	0	0.00116845	0	0
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313000													17	60					3.51602e-12	1.46625e-11	0.00121646	1	0
MERTK	10461	broad.mit.edu	37	2	112786077	112786077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:112786077A>G	ENST00000295408.4	+	19	2893	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	MERTK_ENST00000409780.1_Missense_Mutation_p.E703G|MERTK_ENST00000421804.2_Missense_Mutation_p.E879G			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	879					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CAGTTGCTGGAGAGCTCTGAG	0.522000													43	164					0	0	0.000781405	0	0
BSX	390259	broad.mit.edu	37	11	122852272	122852272	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:122852272C>T	ENST00000343035.2	-	1	156	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGTCTGGGGCCACCTCTCTCA	0.612000													3	4					0	0	6.4e-05	0	0
RSPO2	340419	broad.mit.edu	37	8	108970481	108970481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:108970481C>A	ENST00000276659.5	-	5	1063	c.443G>T	c.(442-444)gGt>gTt	p.G148V	RSPO2_ENST00000517939.1_Missense_Mutation_p.G81V|RSPO2_ENST00000517781.1_Missense_Mutation_p.G84V|RSPO2_ENST00000378439.2_Missense_Mutation_p.G84V	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	148	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GCTCCAATGACCAACTTCACA	0.368000													20	41					1.50039e-11	6.20415e-11	0.00188189	1	0
NEB	4703	broad.mit.edu	37	2	152483591	152483591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:152483591G>C	ENST00000397345.3	-	70	10474	c.10272C>G	c.(10270-10272)gaC>gaG	p.D3424E	NEB_ENST00000604864.1_Missense_Mutation_p.D3424E|NEB_ENST00000172853.10_Missense_Mutation_p.D3181E|NEB_ENST00000409198.1_Missense_Mutation_p.D3181E|NEB_ENST00000427231.2_Missense_Mutation_p.D3424E|NEB_ENST00000603639.1_Missense_Mutation_p.D3424E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3424					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTTCAGCTTGTCCGGAGGCT	0.488000													9	111					0	0	0.000274275	0	0
NOVA1	4857	broad.mit.edu	37	14	26918046	26918046	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:26918046T>A	ENST00000539517.2	-	5	960	c.643A>T	c.(643-645)Aac>Tac	p.N215Y	NOVA1_ENST00000465357.2_Missense_Mutation_p.N191Y|NOVA1_ENST00000267422.7_Missense_Mutation_p.N93Y	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	218	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCTTGCAAGTTGATCCCATCA	0.488000													43	76					0	0	0.00222228	0	0
JPH2	57158	broad.mit.edu	37	20	42815270	42815270	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:42815270G>T	ENST00000372980.3	-	1	948	c.76C>A	c.(76-78)Cat>Aat	p.H26N	JPH2_ENST00000342272.3_Missense_Mutation_p.H26N	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	26	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGTCCATGCCCATGGGCC	0.622000													8	43					2.17888e-05	8.30856e-05	0.000442599	1	0
NAIP	4671	broad.mit.edu	37	5	70308342	70308342	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:70308342T>C	ENST00000517649.1	-	4	691	c.401A>G	c.(400-402)aAc>aGc	p.N134S	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.N134S|NAIP_ENST00000194097.4_Missense_Mutation_p.N134S	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	134					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTTGGCAATGTTACCAACATC	0.488000													36	126					0	0	0.00111076	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20616166	20616166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:20616166C>T	ENST00000202677.6	-	9	1043	c.901G>A	c.(901-903)Gtt>Att	p.V301I		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	301					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATAAAAACAACACGAGCTGCC	0.358000													6	121					0	0	0.00116845	0	0
N6AMT2	221143	broad.mit.edu	37	13	21331600	21331600	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:21331600C>T	ENST00000382758.1	-	2	185	c.138G>A	c.(136-138)gaG>gaA	p.E46E	N6AMT2_ENST00000382754.4_Silent_p.E46E|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	46							methyltransferase activity|nucleic acid binding	p.E46D(1)		endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTACCCAATTCTCTTCTATTA	0.418000													23	57					0	0	0.00278032	0	0
PTPN13	5783	broad.mit.edu	37	4	87703369	87703369	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:87703369G>A	ENST00000436978.1	+	37	6473	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E	PTPN13_ENST00000411767.2_Missense_Mutation_p.G1993E|PTPN13_ENST00000316707.6_Missense_Mutation_p.G1802E|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1974E|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1998E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1993						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TACAGTGTGGGGTCTTGCAGC	0.443000													9	85					0	0	0.000978159	0	0
ASB16	92591	broad.mit.edu	37	17	42248236	42248236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:42248236G>C	ENST00000293414.1	+	1	163	c.79G>C	c.(79-81)Gac>Cac	p.D27H		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	27					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGAATGGGAGGACCGGCGGCG	0.697000													10	45					0	0	0.000673444	0	0
CCIN	881	broad.mit.edu	37	9	36170744	36170744	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:36170744C>T	ENST00000335119.2	+	1	1356	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	415					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCATGGATGGCACCGCCGTGA	0.542000													29	43					0	0	0.001512	0	0
LRRC40	55631	broad.mit.edu	37	1	70616847	70616847	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:70616847A>T	ENST00000370952.3	-	13	1560	c.1481T>A	c.(1480-1482)cTg>cAg	p.L494Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	494										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CAGTCTTACCAGTGATTCCAT	0.284000													10	19					0	0	0.000978159	0	0
DNAH9	1770	broad.mit.edu	37	17	11573072	11573072	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:11573072T>G	ENST00000262442.3	+	17	3382	c.3314T>G	c.(3313-3315)cTc>cGc	p.L1105R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1105R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1105	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGTGGAGCCTCCTGTTCAAA	0.453000													40	95					0	0	0.00170553	0	0
POLL	27343	broad.mit.edu	37	10	103343337	103343337	+	Silent	SNP	G	G	A	rs148400497	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000370169.1_Silent_p.S331S|POLL_ENST00000370158.3_Silent_p.S56S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000299206.4_Silent_p.S331S|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562000								DNA polymerases (catalytic subunits)					15	29					0	0	0.000308642	0	0
DPP6	1804	broad.mit.edu	37	7	154172062	154172062	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:154172062G>C	ENST00000404039.1	+	3	792	c.205G>C	c.(205-207)Gta>Cta	p.V69L	DPP6_ENST00000332007.3_Missense_Mutation_p.V71L|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.V133L|DPP6_ENST00000427557.1_Missense_Mutation_p.V71L|DPP6_ENST00000406326.1_Missense_Mutation_p.V133L	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	133					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAAGGTCACTGTAGAAGATCT	0.403000													39	44					0	0	0.00170553	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723243	170723243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:170723243C>T	ENST00000314251.3	-	7	873	c.794G>A	c.(793-795)gGa>gAa	p.G265E	SLC2A2_ENST00000382808.4_Missense_Mutation_p.G146E	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	265					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATCATCATATCCTCTGAGTCT	0.343000													26	58					0	0	0.001512	0	0
SETX	23064	broad.mit.edu	37	9	135204921	135204921	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:135204921G>A	ENST00000372169.2	-	10	2246	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	SETX_ENST00000393220.1_Silent_p.C688C|SETX_ENST00000224140.5_Silent_p.C688C			Q7Z333	SETX_HUMAN	senataxin	688					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCTGCTTTAAGCATGACCCAG	0.328000													25	43					0	0	0.00278032	0	0
CEP250	11190	broad.mit.edu	37	20	34078580	34078580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:34078580C>T	ENST00000397527.1	+	21	3424	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|CEP250_ENST00000342580.4_Intron	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	902	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAGGCCATCCAGGCCCAGAG	0.557000													9	77					0	0	0.000442599	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351596	128351596	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:128351596C>A	ENST00000262462.4	+	5	1998	c.988C>A	c.(988-990)Cat>Aat	p.H330N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.H330N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.H330N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	330					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAAAAGGATCATAAGGTGCG	0.308000													11	30					3.86212e-05	0.000144461	0.000673444	1	0
ZNF844	284391	broad.mit.edu	37	19	12187076	12187076	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:12187076G>C	ENST00000439326.3	+	4	1316	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCGTTTTGAAGACATGAAAGA	0.383000													7	21					0	0	0.00198382	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216840	26216840	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:26216840G>C	ENST00000244601.3	-	1	32	c.32C>G	c.(31-33)cCg>cGg	p.P11R		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				ACCCTTCTTCGGAGCAGGAGC	0.493000													10	113					0	0	0.000442599	0	0
ZNF486	90649	broad.mit.edu	37	19	20308131	20308131	+	Silent	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:20308131T>C	ENST00000335117.8	+	4	669	c.612T>C	c.(610-612)gaT>gaC	p.D204D	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AAAAAATTGATACTGGAGAGA	0.358000													18	38					0	0	0.00074312	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929342	40929342	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:40929342G>A	ENST00000357949.4	-	2	270	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	38	SERTA.				positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCACGGCCGGGGGTGCCTGT	0.647000													12	21					0	0	0.00185496	0	0
ITPR1	3708	broad.mit.edu	37	3	4768850	4768850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:4768850A>G	ENST00000302640.8	+	41	5518	c.5168A>G	c.(5167-5169)cAt>cGt	p.H1723R	ITPR1_ENST00000456211.2_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.H1723R|ITPR1_ENST00000423119.2_Intron|ITPR1_ENST00000357086.4_Intron|ITPR1_ENST00000354582.6_Intron|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1738					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGAAGACCATAAAAGGGTA	0.478000													17	43					0	0	0.00152264	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	50					0	0	0.00116845	0	0
CCDC117	150275	broad.mit.edu	37	22	29169754	29169754	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr22:29169754A>T	ENST00000443309.2	+	0	122				CCDC117_ENST00000421503.2_Missense_Mutation_p.E76V|CCDC117_ENST00000448492.2_Intron|CCDC117_ENST00000249064.4_Missense_Mutation_p.E76V			Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117											breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						CGAGAGGAGGAGGAGGATGAT	0.373000													9	11					0	0	0.000442599	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245154	35245154	+	Missense_Mutation	SNP	C	C	T	rs116485187	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:35245154C>T	ENST00000360310.1	-	18	3371	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R903H|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R935H	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	935					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCAGAAAAACGGGCTAGCTG	0.353000													10	29					0	0	0.000442599	0	0
SKAP1	8631	broad.mit.edu	37	17	46239901	46239901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:46239901C>T	ENST00000336915.6	-	11	977	c.908G>A	c.(907-909)tGg>tAg	p.W303*	SKAP1_ENST00000584924.1_Nonsense_Mutation_p.W303*	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	303	SH3.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATGGCAATCCCATAGGCCCTG	0.463000													12	70					0	0	0.00185496	0	0
LPPR4	9890	broad.mit.edu	37	1	99772018	99772018	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:99772018A>C	ENST00000370185.3	+	7	2241	c.1744A>C	c.(1744-1746)Atg>Ctg	p.M582L	LPPR4_ENST00000370184.1_Missense_Mutation_p.M424L|LPPR4_ENST00000457765.1_Missense_Mutation_p.M524L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		582							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGTCATAGCCATGTCCAAGCA	0.537000													23	47					0	0	0.00278032	0	0
PGAP1	80055	broad.mit.edu	37	2	197767327	197767327	+	Silent	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:197767327G>T	ENST00000354764.3	-	5	903	c.789C>A	c.(787-789)acC>acA	p.T263T	PGAP1_ENST00000409475.1_Silent_p.T263T|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.T221T	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	263					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATAAGGCACTGGTATGATGGC	0.358000													16	37					2.48551e-13	1.05446e-12	0.000566183	1	0
ARPP21	10777	broad.mit.edu	37	3	35833960	35833960	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:35833960A>T	ENST00000187397.4	+	19	2575	c.2119A>T	c.(2119-2121)Aac>Tac	p.N707Y	ARPP21_ENST00000417925.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.N708Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.N688Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.N688Y|ARPP21_ENST00000476052.1_3'UTR	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	707	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CGTGATAAATAACCAACAAGG	0.463000													33	61					0	0	0.00178596	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	136					0	0	0.00024832	0	0
MYH8	4626	broad.mit.edu	37	17	10318656	10318656	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:10318656C>G	ENST00000403437.2	-	8	788	c.694G>C	c.(694-696)Gcc>Ccc	p.A232P	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	232	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCCAAAGGCCTCCAGTAGG	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				28	75					0	0	0.00127121	0	0
CDH9	1007	broad.mit.edu	37	5	26903930	26903930	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:26903930G>A	ENST00000231021.4	-	6	987	c.815C>T	c.(814-816)aCg>aTg	p.T272M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	272	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTGATACGTACCTATAAA	0.318000													7	28					0	0	0.00198382	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94669495	94669495	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:94669495A>G	ENST00000260526.6	-	8	935	c.753T>C	c.(751-753)atT>atC	p.I251I	ARHGAP29_ENST00000370217.3_Silent_p.I251I	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	251					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CCTGAATTCCAATGTTAGTTC	0.338000													7	26					0	0	0.000157383	0	0
ZNF568	374900	broad.mit.edu	37	19	37441482	37441482	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:37441482G>A	ENST00000415168.1	+	5	1611	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.C476Y	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			CCTTATGAATGCAGTGAATGT	0.393000													20	61					0	0	0.00121646	0	0
HFM1	164045	broad.mit.edu	37	1	91859650	91859650	+	Splice_Site	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:91859650C>G	ENST00000370425.3	-	4	592	c.494_splice	c.e4+1	p.R165_splice	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	165							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		taataattaCCTTTTCCGGAA	0.289000													9	10					0	0	0.000274275	0	0
PXDN	7837	broad.mit.edu	37	2	1651956	1651956	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:1651956T>C	ENST00000252804.4	-	17	3646	c.3596A>G	c.(3595-3597)gAg>gGg	p.E1199G		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1199					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTCAGTTTCTCCCGGATCTC	0.512000													34	202					0	0	0.00058488	0	0
HSPA4L	22824	broad.mit.edu	37	4	128732697	128732697	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:128732697C>T	ENST00000296464.3	+	12	1895	c.1484C>T	c.(1483-1485)gCa>gTa	p.A495V	HSPA4L_ENST00000439123.2_Missense_Mutation_p.A526V|HSPA4L_ENST00000508776.1_Missense_Mutation_p.A495V|HSPA4L_ENST00000505726.1_Missense_Mutation_p.A469V	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	495					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GTGGCTAGCGCATCAGTAATT	0.368000													8	26					0	0	0.000157383	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382277	101382277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:101382277G>T	ENST00000372780.1	+	3	694	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	TCEAL2_ENST00000329035.2_Missense_Mutation_p.D159Y	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGCCATACATGATATGAATTT	0.428000													11	58					1.33987e-11	5.56387e-11	0.000673444	1	0
PSG7	5676	broad.mit.edu	37	19	43433722	43433722	+	RNA	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:43433722T>A	ENST00000406070.2	-	0	677				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCAGACAGCTGCAAGCTGTG	0.512000													138	254					0	0	0.000781405	0	0
ALPK3	57538	broad.mit.edu	37	15	85399896	85399896	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:85399896G>T	ENST00000258888.5	+	6	2700	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	845					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCAGGTGGATGCTGGGACACA	0.547000													9	26					5.4927e-09	2.22432e-08	0.000274275	1	0
HIVEP3	59269	broad.mit.edu	37	1	41978886	41978886	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:41978886T>A	ENST00000372584.1	-	7	7020	c.6006A>T	c.(6004-6006)gaA>gaT	p.E2002D	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E2002D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E2002D|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E2002D	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2002					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGCCTGTGGTTCTCGGGCCG	0.632000													30	44					0	0	0.001512	0	0
CD84	8832	broad.mit.edu	37	1	160520798	160520798	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:160520798G>C	ENST00000368054.3	-	5	823	c.788C>G	c.(787-789)aCa>aGa	p.T263R	CD84_ENST00000368048.3_Missense_Mutation_p.T274R|CD84_ENST00000368051.3_Intron|CD84_ENST00000534968.1_Missense_Mutation_p.T149R|CD84_ENST00000311224.4_Missense_Mutation_p.T280R|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	280					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CATGATATATGTGTATATGGT	0.423000													20	318					0	0	0.00121646	0	0
RGPD4	285190	broad.mit.edu	37	2	108488441	108488441	+	Silent	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:108488441A>G	ENST00000408999.3	+	20	4058	c.3981A>G	c.(3979-3981)gaA>gaG	p.E1327E	RGPD4_ENST00000354986.4_Silent_p.E1327E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1327					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTACTCAAGAAGAAGAGAGAG	0.393000													17	233					0	0	0.00278032	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451254	25451254	+	RNA	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:25451254C>A	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GAGGAAGACCCCGTGGCTCTG	0.642000													13	17					7.03913e-09	2.83882e-08	0.00136819	1	0
PLG	5340	broad.mit.edu	37	6	161159606	161159606	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:161159606C>T	ENST00000308192.9	+	15	1902	c.1839C>T	c.(1837-1839)tcC>tcT	p.S613S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	613	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCTTGATATCCCCAGAGTGGG	0.403000													30	60					0	0	0.000814825	0	0
FCN1	2219	broad.mit.edu	37	9	137809628	137809628	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:137809628C>T	ENST00000371806.3	-	1	181	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	30					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GACATGTGTCCGCAGCCTGGG	0.572000													23	42					0	0	0.000720815	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620403	70620403	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:70620403C>A	ENST00000310613.2	-	3	559	c.262G>T	c.(262-264)Gga>Tga	p.G88*		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	88					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTAATCCAGGGAGAGTC	0.299000													28	70					9.65021e-13	4.07638e-12	0.00209593	1	0
GRK5	2869	broad.mit.edu	37	10	121182709	121182709	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:121182709A>C	ENST00000392870.2	+	5	700	c.371A>C	c.(370-372)gAc>gCc	p.D124A	GRK5_ENST00000369108.3_Missense_Mutation_p.D19A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	124	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GTTGGCCAAGACCTGGTCTCC	0.582000													51	152					0	0	0.000781405	0	0
RXRG	6258	broad.mit.edu	37	1	165398200	165398200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:165398200G>A	ENST00000359842.5	-	2	355	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	18	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGGCCAGGGGAGCCTGTAAG	0.567000													18	22					0	0	0.00121646	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000493	73000493	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:73000493G>A	ENST00000322038.5	+	2	3580	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	TSHZ1_ENST00000580243.1_Missense_Mutation_p.R1044Q	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1044						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTGCAACCGGACTTTTGCG	0.532000													24	53					0	0	0.000586117	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38652910	38652910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:38652910C>G	ENST00000222345.6	+	14	4188	c.3679C>G	c.(3679-3681)Cct>Gct	p.P1227A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1227					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTGGCATGTGCCTGCCCAGGC	0.582000													4	51					0	0	0.00024832	0	0
ROCK2	9475	broad.mit.edu	37	2	11367521	11367521	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:11367521C>T	ENST00000315872.6	-	6	1175	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	ROCK2_ENST00000401753.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	243	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGTACCATGCCTGTCTGCATG	0.373000													54	130					0	0	0.000781405	0	0
FAT1	2195	broad.mit.edu	37	4	187557355	187557355	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:187557355G>C	ENST00000441802.2	-	6	4216	c.4007C>G	c.(4006-4008)tCa>tGa	p.S1336*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1336	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGGTTGATGACTTTTGAGG	0.418000										HNSCC(5;0.00058)			15	36					0	0	0.00121646	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634902	70634902	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:70634902A>G	ENST00000381269.2	-	2	991	c.238T>C	c.(238-240)Tat>Cat	p.Y80H	SLC8A3_ENST00000534137.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.Y80H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.Y80H|SLC8A3_ENST00000357887.3_Missense_Mutation_p.Y80H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	80					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCACAAAATAGACAATGACC	0.522000													12	24					0	0	0.00136819	0	0
LIX1	167410	broad.mit.edu	37	5	96478236	96478236	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:96478236G>A	ENST00000274382.4	-	1	340	c.45C>T	c.(43-45)gtC>gtT	p.V15V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	15										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TGTGAGGCAAGACTTGGGCAA	0.453000													6	55					0	0	0.000157383	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262926	140262926	+	Missense_Mutation	SNP	C	C	T	rs144000682	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:140262926C>T	ENST00000289272.2	+	1	1073	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P358L|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTCACTCCCCATCAGAGAA	0.488000													23	57					0	0	0.00278032	0	0
TMCC2	9911	broad.mit.edu	37	1	205238351	205238351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:205238351C>T	ENST00000358024.3	+	3	1410	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	TMCC2_ENST00000329800.7_Nonsense_Mutation_p.Q101*|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Nonsense_Mutation_p.Q263*|TMCC2_ENST00000330675.7_Nonsense_Mutation_p.Q116*	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	341						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GAAGAAGAACCAGAAGTCAGC	0.592000													4	45					0	0	0.00024832	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:95513821G>A	ENST00000432432.2	-	0	790					NR_040113.1																						TGTCTTGAGCGAAGACATCAA	0.353000													43	705					0	0	0.0025221	0	0
NRP2	8828	broad.mit.edu	37	2	206590770	206590770	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:206590770G>T	ENST00000360409.3	+	6	1745	c.954G>T	c.(952-954)tgG>tgT	p.W318C	NRP2_ENST00000540841.1_Missense_Mutation_p.W318C|NRP2_ENST00000357785.5_Missense_Mutation_p.W318C|NRP2_ENST00000357118.4_Missense_Mutation_p.W318C|NRP2_ENST00000272849.3_Missense_Mutation_p.W318C|NRP2_ENST00000355117.4_Missense_Mutation_p.W318C|NRP2_ENST00000540178.1_Missense_Mutation_p.W318C|NRP2_ENST00000412873.2_Missense_Mutation_p.W318C|NRP2_ENST00000417189.1_Missense_Mutation_p.W318C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	318	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACAATGGCTGGACCCCCAACT	0.522000													15	40					1.52009e-12	6.36619e-12	0.000308642	1	0
SI	6476	broad.mit.edu	37	3	164727122	164727122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:164727122G>T	ENST00000264382.3	-	35	4186	c.4124C>A	c.(4123-4125)gCc>gAc	p.A1375D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1375	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATTTCTCTGGCCCACCACTC	0.383000										HNSCC(35;0.089)			18	57					1.45105e-14	6.18274e-14	0.00074312	1	0
NSA2	10412	broad.mit.edu	37	5	74064792	74064792	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:74064792T>A	ENST00000296802.5	+	2	409	c.40T>A	c.(40-42)Tat>Aat	p.Y14N	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	14					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCGTAAACGCTATGGATACCG	0.328000													5	9					0	0	0.00198382	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706434	21706434	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr3:21706434G>T	ENST00000281523.2	-	2	627	c.109C>A	c.(109-111)Ctt>Att	p.L37I	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	37						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAAAGGGAAGAAATGGTTTA	0.512000													10	23					2.74318e-10	1.12013e-09	0.000442599	1	0
MYPN	84665	broad.mit.edu	37	10	69925475	69925475	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:69925475G>A	ENST00000358913.5	+	9	1988	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L	MYPN_ENST00000354393.2_Silent_p.L225L|MYPN_ENST00000540630.1_Silent_p.L500L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	500	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTTGCACCTTGGTCATTGCTG	0.413000													5	44					0	0	0.00198382	0	0
BRCA1	672	broad.mit.edu	37	17	41222997	41222997	+	Missense_Mutation	SNP	C	C	A	rs70953661		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:41222997C>A	ENST00000309486.4	-	14	5073	c.4046G>T	c.(4045-4047)aGg>aTg	p.R1349M	BRCA1_ENST00000351666.3_Missense_Mutation_p.R462M|BRCA1_ENST00000468300.1_Missense_Mutation_p.R541M|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1645M|BRCA1_ENST00000352993.3_Missense_Mutation_p.R503M|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1666M|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R541M|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1598M|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.R136M	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1645					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTGTTGACCCTTTCTGTTGA	0.443000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			59	64					3.00063e-23	1.34275e-22	0.000781405	1	0
GRB10	2887	broad.mit.edu	37	7	50682481	50682481	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:50682481C>A	ENST00000403097.1	-	11	1843	c.1063G>T	c.(1063-1065)Ggg>Tgg	p.G355W	GRB10_ENST00000406641.1_Missense_Mutation_p.G303W|GRB10_ENST00000407526.1_Missense_Mutation_p.G303W|GRB10_ENST00000402578.1_Missense_Mutation_p.G303W|GRB10_ENST00000357271.5_Missense_Mutation_p.G315W|GRB10_ENST00000402497.1_Missense_Mutation_p.G303W|GRB10_ENST00000401949.1_Missense_Mutation_p.G361W|GRB10_ENST00000335866.3_Missense_Mutation_p.G303W|GRB10_ENST00000398812.2_Missense_Mutation_p.G361W|GRB10_ENST00000439599.1_Missense_Mutation_p.G355W|GRB10_ENST00000398810.2_Missense_Mutation_p.G303W			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	361	PH.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ATGCAGAGCCCGTGGTCTGTA	0.587000									Russell-Silver syndrome				31	68					8.16721e-17	3.51047e-16	0.00209593	1	0
TEK	7010	broad.mit.edu	37	9	27218815	27218815	+	Splice_Site	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:27218815G>T	ENST00000380036.4	+	20	3545	c.3103_splice	c.e20+1	p.G1035_splice	TEK_ENST00000406359.4_Splice_Site_p.G992_splice|TEK_ENST00000519097.1_Splice_Site_p.G887_splice	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1035	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGTTAGCTTAGGTGAGTATCT	0.463000													13	32					6.72482e-11	2.75746e-10	0.000308642	1	0
GABRA6	2559	broad.mit.edu	37	5	161128536	161128536	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:161128536G>A	ENST00000523217.1	+	9	1331	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	GABRA6_ENST00000274545.5_Silent_p.R373R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	373					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			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)	TGAAGAAAAGGATCACTTCTC	0.398000										TCGA Ovarian(5;0.080)			22	62					0	0	0.00047179	0	0
LGI2	55203	broad.mit.edu	37	4	25013978	25013978	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:25013978G>A	ENST00000382114.4	-	7	984	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	267						extracellular region		p.R267W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATAGCTCCGGAAATTCATT	0.507000													7	103					0	0	0.000274275	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138424	126138424	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:126138424A>G	ENST00000299308.3	+	9	2413	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314G	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAGCAATGATATTGAGGGC	0.478000													6	58					0	0	0.00116845	0	0
EIF3M	10480	broad.mit.edu	37	11	32615476	32615476	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:32615476G>T	ENST00000531120.1	+	6	661	c.598G>T	c.(598-600)Gct>Tct	p.A200S	EIF3M_ENST00000524896.1_Missense_Mutation_p.A68S	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	200						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					TGCTTCCCAGGCTCGAGTTGA	0.393000													13	25					0.000219431	0.000814556	0.00244969	1	0
CADM1	23705	broad.mit.edu	37	11	115102137	115102137	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:115102137G>A	ENST00000542447.2	-	4	626	c.498C>T	c.(496-498)tgC>tgT	p.C166C	CADM1_ENST00000537058.1_Silent_p.C166C|CADM1_ENST00000452722.2_Silent_p.C166C|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Silent_p.C166C|CADM1_ENST00000536727.1_Silent_p.C166C	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	166	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCATAGCAGTGCAGTTGACTT	0.458000													29	56					0	0	0.001512	0	0
CES2	8824	broad.mit.edu	37	16	66976677	66976677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr16:66976677G>A	ENST00000317091.4	+	10	2585	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Intron	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	470					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGTTTCTTTGGGGGCAACTAC	0.527000													8	47					0	0	0.000274275	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633784	70633784	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr14:70633784C>A	ENST00000381269.2	-	2	2109	c.1356G>T	c.(1354-1356)acG>acT	p.T452T	SLC8A3_ENST00000534137.1_Silent_p.T452T|SLC8A3_ENST00000356921.2_Silent_p.T452T|SLC8A3_ENST00000528359.1_Silent_p.T452T|SLC8A3_ENST00000357887.3_Silent_p.T452T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	452	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAGAACCACCGTGCCCTCTG	0.488000													45	106					1.7489e-18	7.68577e-18	0.00285205	1	0
FUT9	10690	broad.mit.edu	37	6	96651512	96651512	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:96651512G>T	ENST00000302103.5	+	3	807	c.481G>T	c.(481-483)Gat>Tat	p.D161Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	161					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.D161N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTACCGCCGTGATTCAGATAT	0.453000													19	35					1.1804e-14	5.05148e-14	0.000586117	1	0
ZNF608	57507	broad.mit.edu	37	5	123983042	123983042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:123983042C>A	ENST00000306315.5	-	4	3470	c.3035G>T	c.(3034-3036)gGg>gTg	p.G1012V	ZNF608_ENST00000504926.1_Missense_Mutation_p.G585V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1012						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ACCGACCTGCCCAGGGTGCAT	0.473000													46	94					8.20599e-20	3.65539e-19	0.00285205	1	0
CASK	8573	broad.mit.edu	37	X	41390289	41390289	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chrX:41390289G>A	ENST00000318588.9	-	25	2521	c.2476C>T	c.(2476-2478)Ctg>Ttg	p.L826L	CASK_ENST00000378166.4_Silent_p.L826L|CASK_ENST00000361962.4_Silent_p.L814L|CASK_ENST00000442742.2_Silent_p.L803L|CASK_ENST00000378158.1_Silent_p.L814L|CASK_ENST00000378163.1_Silent_p.L831L|CASK_ENST00000421587.2_Silent_p.L802L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	831	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATTGCAATCAGCCCCTGCTCG	0.512000													28	12					0	0	0.000878237	0	0
FAR2	55711	broad.mit.edu	37	12	29469874	29469874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:29469874G>A	ENST00000182377.4	+	9	1324	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Nonsense_Mutation_p.W352*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.W255*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	352					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CACAGTACTGGAATGCGGTCA	0.498000													17	215					0	0	0.00121646	0	0
LYST	1130	broad.mit.edu	37	1	235904812	235904812	+	Silent	SNP	G	G	A	rs141534829	byFrequency	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:235904812G>A	ENST00000389794.3	-	31	8442	c.8268C>T	c.(8266-8268)caC>caT	p.H2756H	LYST_ENST00000389793.2_Silent_p.H2756H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2756					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.H2756H(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTGTGCAGCGTGGGCTGGCG	0.438000													6	94					0	0	0.00116845	0	0
MLLT10	8028	broad.mit.edu	37	10	22021981	22021981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:22021981C>T	ENST00000377072.3	+	19	2768	c.2420C>T	c.(2419-2421)cCg>cTg	p.P807L	MLLT10_ENST00000307729.7_Missense_Mutation_p.P791L|MLLT10_ENST00000446906.2_Missense_Mutation_p.P791L|MLLT10_ENST00000377059.3_Missense_Mutation_p.P791L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	807					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P807L(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATCCTAGTCCGTCTCATCAA	0.338000			T	"""MLL, PICALM, CDK6"""	AL								7	67					0	0	0.000157383	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076291	2076291	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr9:2076291C>A	ENST00000382203.1	+	13	2207	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	SMARCA2_ENST00000357248.2_Missense_Mutation_p.S666R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.S666R|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S666R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	666					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATCCAAATAGCGAAGAAGTTT	0.388000													27	51					1.88708e-17	8.14688e-17	0.001512	1	0
KIAA1244	57221	broad.mit.edu	37	6	138566721	138566721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:138566721G>T	ENST00000251691.4	+	8	824	c.658G>T	c.(658-660)Gcc>Tcc	p.A220S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	220					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTGCAAGCCGCCATAAAGTA	0.453000													5	14					1.23904e-05	4.7618e-05	0.000602214	1	0
ING2	3622	broad.mit.edu	37	4	184432021	184432021	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:184432021G>C	ENST00000302327.3	+	2	961	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ING2_ENST00000434682.2_Missense_Mutation_p.W213C	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	253					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.W253C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGGGGAAATGGTATTGCCCAA	0.388000													4	30					0	0	0.00024832	0	0
SNAPC2	6618	broad.mit.edu	37	19	7986386	7986386	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:7986386G>A	ENST00000221573.6	+	2	313	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	88					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGGCCTTCAGGGACCAAGGCG	0.657000													21	36					0	0	0.00152264	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:102292797C>G	ENST00000561463.1	+	0	843																		p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000													4	25					0	0	0.000602214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203008176	203008176	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:203008176C>T	ENST00000367240.2	+	2	567	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	PPFIA4_ENST00000447715.2_Silent_p.L14L|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	0					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGGGGACCGCCTGGGTCCCCC	0.622000											OREG0014109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0.00024832	0	0
EPS8L2	64787	broad.mit.edu	37	11	720677	720677	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:720677G>A	ENST00000533256.1	+	7	783	c.408G>A	c.(406-408)ctG>ctA	p.L136L	EPS8L2_ENST00000530636.1_Silent_p.L136L|EPS8L2_ENST00000526198.1_Silent_p.L152L|EPS8L2_ENST00000318562.8_Silent_p.L136L|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	136	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTCTGTGCTGCTGCTCGTGT	0.677000													5	7					0	0	0.00116845	0	0
NECAB3	63941	broad.mit.edu	37	20	32247476	32247476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr20:32247476C>T	ENST00000246190.6	-	8	761	c.706G>A	c.(706-708)Gac>Aac	p.D236N	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.D236N	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	236					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						TCGAGCTGGTCGATGAGCTCC	0.706000													4	9					0	0	0.00024832	0	0
CCER1	196477	broad.mit.edu	37	12	91348312	91348312	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:91348312G>T	ENST00000358859.2	-	1	641	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		GGGCCGTGCTGTTGCTTCGGC	0.642000													12	16					1.08611e-07	4.29188e-07	0.000978159	1	0
SDK1	221935	broad.mit.edu	37	7	4185403	4185403	+	Silent	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:4185403C>A	ENST00000404826.2	+	29	4417	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	SDK1_ENST00000389531.3_Silent_p.T1426T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1426	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCTTCACCACCGTGGAGG	0.657000													9	60					1.76689e-08	7.09654e-08	0.000442599	1	0
SOX5	6660	broad.mit.edu	37	12	23999030	23999030	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:23999030G>A	ENST00000546136.1	-	2	331	c.329C>T	c.(328-330)tCc>tTc	p.S110F	SOX5_ENST00000537393.1_Missense_Mutation_p.S88F|SOX5_ENST00000381381.2_Missense_Mutation_p.S110F|SOX5_ENST00000451604.2_Missense_Mutation_p.S123F|SOX5_ENST00000541847.1_Missense_Mutation_p.S113F|SOX5_ENST00000309359.1_Missense_Mutation_p.S110F|SOX5_ENST00000545921.1_Missense_Mutation_p.S113F|SOX5_ENST00000541536.1_Missense_Mutation_p.S110F|SOX5_ENST00000441133.2_Missense_Mutation_p.S88F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	123					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACTAGACAAGGACTCGCCACT	0.493000													33	53					0	0	0.0024448	0	0
GLIPR1	11010	broad.mit.edu	37	12	75889388	75889388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr12:75889388G>A	ENST00000266659.3	+	4	766	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	189					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						ATATAAGAGAGGAGCCACCTG	0.378000													3	24					0	0	6.4e-05	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168472	142168472	+	RNA	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:142168472G>A	ENST00000454561.2	-	0	451																											CTGGAGACCTGAGAATCTAGG	0.537000													54	70					0	0	0.000781405	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105592	11105592	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:11105592C>A	ENST00000358026.2	+	9	1792	c.1508C>A	c.(1507-1509)gCa>gAa	p.A503E	SMARCA4_ENST00000344626.4_Missense_Mutation_p.A503E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A503E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A503E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A503E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A503E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	503	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGACCAAGGCAGTGGCCACG	0.532000			"""F, N, Mis"""		NSCLC								4	21					3.86212e-05	0.000144461	0.000673444	1	0
TTC18	118491	broad.mit.edu	37	10	75059376	75059376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:75059376C>T	ENST00000310715.3	-	14	1634	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.G505E|TTC18_ENST00000394865.1_Missense_Mutation_p.G505E|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	505							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTGAGCTCCTCCTGTCCGACG	0.363000													14	27					0	0	0.00074312	0	0
EN1	2019	broad.mit.edu	37	2	119603946	119603946	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:119603946C>T	ENST00000295206.6	-	1	1308	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	266					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GAGGCTGCTGCGAGTCAGTTT	0.637000													5	14					0	0	0.000602214	0	0
CA10	56934	broad.mit.edu	37	17	49726560	49726560	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:49726560G>C	ENST00000451037.2	-	6	1557	c.617C>G	c.(616-618)aCa>aGa	p.T206R	CA10_ENST00000571918.1_5'UTR|CA10_ENST00000285273.4_Missense_Mutation_p.T206R|CA10_ENST00000442502.2_Missense_Mutation_p.T206R|CA10_ENST00000340813.6_Missense_Mutation_p.T212R|CA10_ENST00000570565.1_Missense_Mutation_p.T131R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	206					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGTTATTCTTGTGATAGTATC	0.383000													5	62					0	0	0.000602214	0	0
IL36A	27179	broad.mit.edu	37	2	113764229	113764229	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:113764229G>C	ENST00000259211.6	+	3	590	c.179G>C	c.(178-180)gGg>gCg	p.G60A		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	60					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						AAAGACAGAGGGAACCCCATC	0.527000													61	221					0	0	0.000781405	0	0
ZNF808	388558	broad.mit.edu	37	19	53058290	53058290	+	Silent	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr19:53058290C>T	ENST00000359798.4	+	5	2301	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGAAACCTTACAAGTGTAATG	0.413000													19	250					0	0	0.00121646	0	0
SLC20A1	6574	broad.mit.edu	37	2	113417263	113417263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:113417263G>A	ENST00000272542.3	+	8	2070	c.1531G>A	c.(1531-1533)Gtc>Atc	p.V511I		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	511					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAAGCCTGAAGTCTCTCTCCT	0.468000													11	163					0	0	0.00185496	0	0
SCIN	85477	broad.mit.edu	37	7	12675756	12675756	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:12675756T>C	ENST00000297029.5	+	10	1507	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	SCIN_ENST00000445618.2_Missense_Mutation_p.V222A|SCIN_ENST00000519209.1_Missense_Mutation_p.V222A	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	469	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGACAGGCTGTGCAGGTTGGG	0.468000													4	8					0	0	0.000602214	0	0
LGR6	59352	broad.mit.edu	37	1	202287594	202287594	+	Silent	SNP	G	G	A	rs140182035		TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:202287594G>A	ENST00000367278.3	+	18	2252	c.2163G>A	c.(2161-2163)gcG>gcA	p.A721A	LGR6_ENST00000439764.2_Silent_p.A582A|LGR6_ENST00000255432.7_Silent_p.A669A	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	721						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGCCCTACGCGCCACCTGAGG	0.667000													10	33					0	0	0.000442599	0	0
NAA15	80155	broad.mit.edu	37	4	140309172	140309172	+	Silent	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr4:140309172G>A	ENST00000296543.5	+	20	2858	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	NAA15_ENST00000398947.1_Silent_p.E844E|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	845					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GATATGAAGAGGATATGAAGA	0.388000													13	25					0	0	0.00136819	0	0
FAM71B	153745	broad.mit.edu	37	5	156590090	156590090	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:156590090C>G	ENST00000302938.4	-	2	1281	c.1186G>C	c.(1186-1188)Gga>Cga	p.G396R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	396						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGGGGTCCCACTGCTGGT	0.537000													25	34					0	0	0.00278032	0	0
EPB41L3	23136	broad.mit.edu	37	18	5415995	5415995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr18:5415995G>A	ENST00000341928.2	-	13	2229	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P630L|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	630	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAAGGGACGGTGAGCGGAT	0.542000													18	59					0	0	0.00074312	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368987	86368987	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:86368987C>T	ENST00000400286.2	-	2	2255	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	553	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTTTTTGTCGAGATGCCCG	0.458000													11	54					0	0	0.000673444	0	0
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:123814471G>T	ENST00000321252.2	-	1	109	c.75C>A	c.(73-75)ttC>ttA	p.F25L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488000													36	74					5.43694e-19	2.40009e-18	0.00111076	1	0
TJP1	7082	broad.mit.edu	37	15	30003119	30003119	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:30003119G>C	ENST00000346128.6	-	24	4762	c.4288C>G	c.(4288-4290)Cca>Gca	p.P1430A	TJP1_ENST00000400011.2_Missense_Mutation_p.P1354A|TJP1_ENST00000545208.2_Missense_Mutation_p.P1350A|TJP1_ENST00000356107.6_Missense_Mutation_p.P1430A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1430	Poly-Pro.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGGCAATGGAGGAGGAGGG	0.532000													76	109					0	0	0.000781405	0	0
CSMD3	114788	broad.mit.edu	37	8	113326782	113326782	+	Silent	SNP	A	A	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr8:113326782A>T	ENST00000297405.5	-	48	7669	c.7425T>A	c.(7423-7425)ccT>ccA	p.P2475P	CSMD3_ENST00000455883.2_Silent_p.P2371P|CSMD3_ENST00000352409.3_Silent_p.P2405P|CSMD3_ENST00000343508.3_Silent_p.P2435P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2475	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTAACTGTCAGGATATCCAG	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	23					0	0	0.000673444	0	0
PRDM2	7799	broad.mit.edu	37	1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gcfs	p.A1014fs	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632													44	74	---	---	---	---					
CLSPN	63967	broad.mit.edu	37	1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr1:36226310_36226311insT	ENST00000251195.5	-	8	1307_1308	c.1211_1212insA	c.(1210-1212)agafs	p.R404fs	CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000318121.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.R404fs			Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436													19	103	---	---	---	---					
THSD7B	80731	broad.mit.edu	37	2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)acafs	p.T1417fs	THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.T1389fs|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.T1420fs|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426													51	206	---	---	---	---					
NEK4	6787	broad.mit.edu	37	3	52778296	52778297	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr3:52778296_52778297delCT	ENST00000233027.5	-	11	2054_2055	c.1852_1853delAG	c.(1852-1854)gfs	p.R620fs	NEK4_ENST00000383721.4_Frame_Shift_Del_p.R574fs|NEK4_ENST00000535191.1_Frame_Shift_Del_p.R531fs	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	620					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TAGTCGCCTCCTCTCTCTGGCT	0.406													52	151	---	---	---	---					
CDHR2	54825	broad.mit.edu	37	5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)cfs	p.L90fs	CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTGCAGACACTCTACACATTC	0.644													18	44	---	---	---	---					
MGAT4B	11282	broad.mit.edu	37	5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr5:179228834_179228837delCTTT	ENST00000337755.5	-	1	1161_1164	c.275_278delAAAG	c.(274-279)ggfs	p.ER92fs	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Frame_Shift_Del_p.ER77fs	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	31	---	---	---	---					
PHKG1	5260	broad.mit.edu	37	7	62693694	62693694	+	RNA	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr7:62693694delC	ENST00000451381.1	-	0	181																											TGGGCTGCAGCCCCCGCCCTG	0.657													2	4	---	---	---	---					
FBXO18	84893	broad.mit.edu	37	10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:5958267delG	ENST00000379999.5	+	11	1893	c.1789delG	c.(1789-1791)ggfs	p.G597fs	FBXO18_ENST00000379994.1_Frame_Shift_Del_p.G283fs|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.G546fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463													19	71	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr10:24825815_24825817delAGA	ENST00000376451.2	+	12	2836_2838	c.2576_2578delAGA	c.(2575-2580)gag>g	p.EK859del	KIAA1217_ENST00000307544.6_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.EK1176del|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_In_Frame_Del_p.EK859del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.EK1141del|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_In_Frame_Del_p.EK1140del			Q5T5P2	SKT_HUMAN	KIAA1217	1176					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCACCCAAGGAGAAGAAGGTAAC	0.517													28	40	---	---	---	---					
NLRP14	338323	broad.mit.edu	37	11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gcfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428													30	48	---	---	---	---					
ZMYM2	7750	broad.mit.edu	37	13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:20641147_20641148delGA	ENST00000382869.3	+	20	3540_3541	c.3289_3290delGA	c.(3289-3291)gfs	p.E1097fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.1_3'UTR|ZMYM2_ENST00000382870.2_Frame_Shift_Del_p.E477fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.E1097fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302													11	34	---	---	---	---					
TRPC4	7223	broad.mit.edu	37	13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)atfs	p.H151fs	TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTATTTGTATGGGCTGCCAAA	0.433													49	111	---	---	---	---					
SLC12A6	9990	broad.mit.edu	37	15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tcafs	p.S965fs	SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.S956fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.S914fs|SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.S950fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCGTAAGTGATATAGGAAGGTG	0.480													19	41	---	---	---	---					
KRT9	3857	broad.mit.edu	37	17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)acfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.510													10	334	---	---	---	---					
PGS1	9489	broad.mit.edu	37	17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	b3f82016-0969-477c-8b02-18fb25524fd5	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gcfs	p.D280fs	PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637													15	57	---	---	---	---					
PRDM2	7799	broad.mit.edu	37	1	14107331	14107331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:14107331delC	ENST00000235372.7	+	8	3897	c.3041delC	c.(3040-3042)gcfs	p.A1014fs	PRDM2_ENST00000343137.4_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000413440.1_Frame_Shift_Del_p.A813fs|PRDM2_ENST00000311066.5_Frame_Shift_Del_p.A1014fs|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1014	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCTCAAATGCCACCGCACAG	0.632													44	74	---	---	---	---					
CLSPN	63967	broad.mit.edu	37	1	36226310	36226311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr1:36226310_36226311insT	ENST00000251195.5	-	8	1307_1308	c.1211_1212insA	c.(1210-1212)agafs	p.R404fs	CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000318121.3_Frame_Shift_Ins_p.R404fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.R404fs			Q9HAW4	CLSPN_HUMAN	claspin	404					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTAGCTCTTCATTTTTTACCAA	0.436													19	103	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	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													12	171	---	---	---	---					
THSD7B	80731	broad.mit.edu	37	2	138414509	138414510	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr2:138414509_138414510insA	ENST00000409968.1	+	23	4427_4428	c.4249_4250insA	c.(4249-4251)acafs	p.T1417fs	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Frame_Shift_Ins_p.T1389fs|THSD7B_ENST00000272643.3_Frame_Shift_Ins_p.T1420fs					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCTGCCCCCAACAGGTTCTA	0.426													51	206	---	---	---	---					
FCHO2	115548	broad.mit.edu	37	5	72313079	72313086	+	Frame_Shift_Del	DEL	TTGAAAGT	TTGAAAGT	-	rs143520046	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:72313079_72313086delTTGAAAGT	ENST00000430046.2	+	8	856_863	c.740_747delTTGAAAGT	c.(739-747)gfs	p.VES247fs	FCHO2_ENST00000512348.1_Frame_Shift_Del_p.VES214fs|FCHO2_ENST00000341845.6_Frame_Shift_Del_p.VES247fs|FCHO2_ENST00000287761.6_Frame_Shift_Del_p.VES247fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	247										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AATACTACAGTTGAAAGTTTGATACAAA	0.293													4	3	---	---	---	---					
CDHR2	54825	broad.mit.edu	37	5	175995964	175995965	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:175995964_175995965delCT	ENST00000510636.1	+	5	542_543	c.268_269delCT	c.(268-270)cfs	p.L90fs	CDHR2_ENST00000261944.5_Frame_Shift_Del_p.L90fs|CDHR2_ENST00000506348.1_Frame_Shift_Del_p.L90fs	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	90	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCTGCAGACACTCTACACATTC	0.644													18	44	---	---	---	---					
MGAT4B	11282	broad.mit.edu	37	5	179228834	179228837	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr5:179228834_179228837delCTTT	ENST00000337755.5	-	1	1161_1164	c.275_278delAAAG	c.(274-279)ggfs	p.ER92fs	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Frame_Shift_Del_p.ER77fs	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	77					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGCCTGCCTTTCTGACACGGC	0.667											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	31	---	---	---	---					
WRNIP1	56897	broad.mit.edu	37	6	2766468	2766469	+	Frame_Shift_Ins	INS	-	-	GGGG	rs148900120	by1000genomes	TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr6:2766468_2766469insGGGG	ENST00000380773.4	+	1	821_822	c.612_613insGGGG	c.(610-615)ggggggfs	p.GG204fs	WRNIP1_ENST00000380771.4_Frame_Shift_Ins_p.GG204fs|WRNIP1_ENST00000380769.4_5'UTR	NM_020135.2	NP_064520.2	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	204					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GGGCCAGTggcgggggccgccc	0.752													2	4	---	---	---	---					
PHKG1	5260	broad.mit.edu	37	7	62693694	62693694	+	RNA	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr7:62693694delC	ENST00000451381.1	-	0	181																											TGGGCTGCAGCCCCCGCCCTG	0.657													2	4	---	---	---	---					
FBXO18	84893	broad.mit.edu	37	10	5958267	5958267	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:5958267delG	ENST00000379999.5	+	11	1893	c.1789delG	c.(1789-1791)ggfs	p.G597fs	FBXO18_ENST00000379994.1_Frame_Shift_Del_p.G283fs|FBXO18_ENST00000397269.3_Frame_Shift_Del_p.G33fs|FBXO18_ENST00000362091.4_Frame_Shift_Del_p.G546fs	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	546					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTGCTGAAGGGAAGGGTGG	0.463													19	71	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24825815	24825817	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr10:24825815_24825817delAGA	ENST00000376451.2	+	12	2836_2838	c.2576_2578delAGA	c.(2575-2580)gag>g	p.EK859del	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.EK1140del|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_In_Frame_Del_p.EK859del|KIAA1217_ENST00000376454.3_In_Frame_Del_p.EK1176del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.EK1141del			Q5T5P2	SKT_HUMAN	KIAA1217	1176					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCACCCAAGGAGAAGAAGGTAAC	0.517													28	40	---	---	---	---					
NLRP14	338323	broad.mit.edu	37	11	7064303	7064303	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr11:7064303delC	ENST00000299481.4	+	4	1392	c.1046delC	c.(1045-1047)gcfs	p.A349fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGGTGGGCCATGAAAGTA	0.428													30	48	---	---	---	---					
ZMYM2	7750	broad.mit.edu	37	13	20641147	20641148	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:20641147_20641148delGA	ENST00000382869.3	+	20	3540_3541	c.3289_3290delGA	c.(3289-3291)gfs	p.E1097fs	ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000382870.2_Frame_Shift_Del_p.E477fs|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.E1097fs|ZMYM2_ENST00000494061.1_3'UTR	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGTATTAGATGAGTTAAAATCT	0.302													11	34	---	---	---	---					
TRPC4	7223	broad.mit.edu	37	13	38320520	38320520	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr13:38320520delG	ENST00000379705.3	-	3	1308	c.451delC	c.(451-453)atfs	p.H151fs	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379681.3_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000426868.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000358477.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000447043.1_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379673.2_Frame_Shift_Del_p.H151fs|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	151	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTATTTGTATGGGCTGCCAAA	0.433													49	111	---	---	---	---					
SLC12A6	9990	broad.mit.edu	37	15	34529660	34529661	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr15:34529660_34529661insA	ENST00000354181.3	-	22	3385_3386	c.2893_2894insT	c.(2893-2895)tcafs	p.S965fs	SLC12A6_ENST00000458406.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000397702.2_Frame_Shift_Ins_p.S906fs|SLC12A6_ENST00000290209.5_Frame_Shift_Ins_p.S914fs|SLC12A6_ENST00000560164.1_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000560611.1_Frame_Shift_Ins_p.S965fs|SLC12A6_ENST00000451844.2_Frame_Shift_Ins_p.S777fs|SLC12A6_ENST00000558589.1_Frame_Shift_Ins_p.S956fs|SLC12A6_ENST00000397707.2_Frame_Shift_Ins_p.S950fs|SLC12A6_ENST00000558667.1_Frame_Shift_Ins_p.S965fs			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	965					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCGTAAGTGATATAGGAAGGTG	0.480													19	41	---	---	---	---					
KRT9	3857	broad.mit.edu	37	17	39726431	39726440	+	Frame_Shift_Del	DEL	GTCCAGGAGA	GTCCAGGAGA	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:39726431_39726440delGTCCAGGAGA	ENST00000246662.4	-	2	740_749	c.675_684delTCTCCTGGAC	c.(673-684)acfs	p.TLLD225fs	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	225	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGTTGTCAATGTCCAGGAGAGTTTTGTTGT	0.510													10	334	---	---	---	---					
PGS1	9489	broad.mit.edu	37	17	76396892	76396892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr17:76396892delA	ENST00000262764.6	+	6	862	c.836delA	c.(835-837)gcfs	p.D280fs	PGS1_ENST00000588281.1_3'UTR|PGS1_ENST00000329897.7_Frame_Shift_Del_p.D145fs	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	280					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCAGGGGGACGACACGGTG	0.637													15	57	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-CV-7250-01A-11D-2012-08	TCGA-CV-7250-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14516d2b-47dc-4768-977b-bc3c1fe93722	8ca57602-ec37-4f27-bd38-ad19da3997f2	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---