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
CCT8	10694	broad.mit.edu	37	21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368000													4	134					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656560	240656560	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240656560C>G	ENST00000318160.4	-	2	482	c.216G>C	c.(214-216)tgG>tgC	p.W72C		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	72					BMP signaling pathway	extracellular space	cytokine activity	p.W72C(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GCGTCTTGCACCAGTCACTCT	0.632000													12	44					0	0	1	0	0
EARS2	124454	broad.mit.edu	37	16	23541092	23541092	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:23541092G>A	ENST00000449606.1	-	6	1225	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y	EARS2_ENST00000563232.1_Silent_p.Y398Y|EARS2_ENST00000563459.1_Silent_p.Y398Y|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.Y398Y	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	398					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCCTCTCCACGTAGACTGGGT	0.592000													27	181					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				113	70					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678201	130678201	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:130678201G>A	ENST00000338616.3	+	1	252	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TATTCACTTTGACCCCAACCT	0.413000													61	177					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565101	20565101	+	Silent	SNP	A	A	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:20565101A>C	ENST00000329697.6	-	5	906	c.738T>G	c.(736-738)gcT>gcG	p.A246A	ACSM2B_ENST00000565322.1_Silent_p.A167A|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Silent_p.A246A|ACSM2B_ENST00000567001.1_Silent_p.A246A	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	246					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGCTTACCCAGCATCCATCT	0.512000													27	104					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132186135	132186135	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:132186135G>T	ENST00000260818.6	+	20	2434	c.2186G>T	c.(2185-2187)aGg>aTg	p.R729M	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	729							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGGAGGGATAGGATGGGCATT	0.398000													12	154					6.40141e-05	7.17399e-05	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72343784	72343784	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:72343784G>A	ENST00000299687.5	+	1	809	c.809G>A	c.(808-810)cGt>cAt	p.R270H	ZNF407_ENST00000309902.6_Missense_Mutation_p.R270H|ZNF407_ENST00000577538.1_Missense_Mutation_p.R270H|ZNF407_ENST00000582337.1_Missense_Mutation_p.R270H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R270H(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACACATCTCCGTCGTCAGAAT	0.403000													11	195					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031234	36031234	+	Missense_Mutation	SNP	C	C	A	rs141011727		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:36031234C>A	ENST00000373578.2	+	13	1702	c.1353C>A	c.(1351-1353)ttC>ttA	p.F451L	SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Missense_Mutation_p.F451L|SRC_ENST00000373558.2_Missense_Mutation_p.F457L|SRC_ENST00000358208.4_Missense_Mutation_p.F451L|SRC_ENST00000373567.2_Missense_Mutation_p.F451L|SRC_ENST00000360723.4_Missense_Mutation_p.F457L	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	451	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGTGGTCCTTCGGGATCCTGC	0.592000													3	114					1	1	1	1	0
BRIP1	83990	broad.mit.edu	37	17	59876570	59876570	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:59876570T>C	ENST00000259008.2	-	9	1498	c.1231A>G	c.(1231-1233)Aca>Gca	p.T411A	BRIP1_ENST00000577598.1_Missense_Mutation_p.T411A	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	411	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TGAACTTCTGTTACACTGTAA	0.398000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					37	135					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52857030	52857030	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:52857030G>A	ENST00000601151.1	+	4	611	c.159G>A	c.(157-159)atG>atA	p.M53I	ZNF610_ENST00000403906.3_Missense_Mutation_p.M53I|ZNF610_ENST00000321287.8_Missense_Mutation_p.M53I|ZNF610_ENST00000327920.8_Missense_Mutation_p.M53I	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGGACGTGATGTTGGAGAACT	0.512000													26	203					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790919	95790919	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:95790919C>G	ENST00000260766.3	+	2	750	c.116C>G	c.(115-117)tCa>tGa	p.S39*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S39*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	39					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCAATATTTCAAAAGCACAT	0.423000													17	96					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131127917	131127917	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:131127917C>T	ENST00000357668.1	-	22	2156	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.R710Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	710					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTCCTCCTGTCGAAGATTCCA	0.413000													32	478					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117007450	117007450	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr7:117007450C>A	ENST00000284629.2	-	12	1293	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	411					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCACTCAAATCTTCAACATTA	0.303000													4	46					0.00116845	0.00128727	1	1	0
HLA-B	3106	broad.mit.edu	37	6	31323191	31323191	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:31323191C>A	ENST00000412585.2	-	4	826	c.798G>T	c.(796-798)caG>caT	p.Q266H		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGCCCACTTCTGGAAGGTTC	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				4	83					0.150653	0.157943	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165715113	165715113	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:165715113T>C	ENST00000543069.1	-	2	967	c.386A>G	c.(385-387)aAg>aGg	p.K129R	C6orf118_ENST00000230301.8_Missense_Mutation_p.K233R			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	233										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTCATTCTTCAGGAGATC	0.607000													3	101					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	104					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140960400	140960400	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:140960400G>C	ENST00000253811.6	-	8	875	c.735C>G	c.(733-735)gtC>gtG	p.V245V	DIAPH1_ENST00000398557.4_Silent_p.V245V|DIAPH1_ENST00000398566.3_Silent_p.V236V|DIAPH1_ENST00000389054.3_Silent_p.V245V|DIAPH1_ENST00000389057.5_Silent_p.V236V|DIAPH1_ENST00000518047.1_Silent_p.V236V|DIAPH1_ENST00000398562.2_Silent_p.V236V|DIAPH1_ENST00000520569.1_Silent_p.V191V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	245	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGGCTCTGACCAGCAGTA	0.463000													8	116					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176320	10176320	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:10176320G>A	ENST00000380833.4	+	9	1470	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CLCN4_ENST00000380829.1_Missense_Mutation_p.R329H|CLCN4_ENST00000421085.2_Missense_Mutation_p.R266H	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	360						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCAGGAGGCGCAAGACCACC	0.597000													4	171					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160042962	160042962	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:160042962C>T	ENST00000327245.5	-	17	3382	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	846					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTCCTCTTCGCTTACAACC	0.527000													17	55					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44579141	44579141	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:44579141G>A	ENST00000322927.2	-	21	3383	c.3283C>T	c.(3283-3285)Ctg>Ttg	p.L1095L	ZNF335_ENST00000426788.1_Silent_p.L940L	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1095					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GTGTGAGTCAGCATGTGCCGA	0.597000													4	236					0	0	1	0	0
OR11H4	390442	broad.mit.edu	37	14	20711912	20711912	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:20711912G>A	ENST00000315409.2	+	1	1015	c.962G>A	c.(961-963)cGt>cAt	p.R321H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGAGAATTCGTCAAAATTCG	0.393000													39	80					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491091	26491091	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:26491091A>G	ENST00000295589.3	-	2	322	c.128T>C	c.(127-129)gTg>gCg	p.V43A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	43					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GAGAATCTGCACCGCTGGCTG	0.552000													6	58					0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50811826	50811826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:50811826C>A	ENST00000540145.1	+	8	1527	c.1112C>A	c.(1111-1113)tCa>tAa	p.S371*	CYLD_ENST00000568704.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000311559.9_Nonsense_Mutation_p.S371*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.S368*|CYLD_ENST00000569418.1_Nonsense_Mutation_p.S368*|CYLD_ENST00000427738.3_Nonsense_Mutation_p.S371*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	371	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.S371*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAATCCAAATCAAAAAATACA	0.313000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				7	126					8.12818e-05	9.03132e-05	1	1	0
KLF15	28999	broad.mit.edu	37	3	126070938	126070938	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:126070938G>C	ENST00000296233.3	-	2	1058	c.828C>G	c.(826-828)tcC>tcG	p.S276S		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	276						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCACAAACTTGGAGGGCAGGT	0.627000													2	9					0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97331091	97331091	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:97331091C>T	ENST00000266742.4	+	9	1376	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	NEDD1_ENST00000411739.2_Missense_Mutation_p.A257V|NEDD1_ENST00000457368.2_Missense_Mutation_p.A257V|NEDD1_ENST00000429527.2_Missense_Mutation_p.A346V|NEDD1_ENST00000557644.1_Missense_Mutation_p.A353V	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	346					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GAAGCACCTGCCACGTCCATT	0.433000													104	109					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701532	13701532	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:13701532G>C	ENST00000265104.4	-	77	13456	c.13352C>G	c.(13351-13353)tCt>tGt	p.S4451C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4451				S -> F (in Ref. 5; BAB15543).	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGTGTACTAGAAATCCAAGA	0.373000									Kartagener syndrome				4	143					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156950259	156950259	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:156950259G>A	ENST00000368194.3	-	4	1282	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ARHGEF11_ENST00000361409.2_Silent_p.A81A	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	81	PDZ.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.A81A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTTCACACCGGCCTTCATGG	0.567000													5	11					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152746543	152746543	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152746543C>G	ENST00000367255.5	-	39	5841	c.5240G>C	c.(5239-5241)aGa>aCa	p.R1747T	SYNE1_ENST00000423061.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1747T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1754T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1784T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1747					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			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)		TGGTAAATCTCTCCATCTCTC	0.318000										HNSCC(10;0.0054)			5	163					0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203150383	203150383	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:203150383G>A	ENST00000255409.3	-	7	743	c.618C>T	c.(616-618)taC>taT	p.Y206Y		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	206	Chitooligosaccharide.				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CATGAAAATCGTAGGTCATGA	0.522000													25	61					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524391	37524391	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr22:37524391C>A	ENST00000216223.5	-	10	1599	c.1401G>T	c.(1399-1401)tgG>tgT	p.W467C		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	467					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCTGGGGGTCCCAGTCTCTGG	0.682000													5	50					0.014758	0.0158557	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99771805	99771805	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:99771805G>A	ENST00000370185.3	+	7	2028	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	LPPR4_ENST00000370184.1_Missense_Mutation_p.G353R|LPPR4_ENST00000457765.1_Missense_Mutation_p.G453R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		511							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)		CGCTGTCCCCGGATGTAACAA	0.552000													17	384					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53849269	53849269	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:53849269C>T	ENST00000603815.1	+	4	468	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	PCBP2_ENST00000548933.1_Missense_Mutation_p.R40C|PCBP2_ENST00000359462.5_Missense_Mutation_p.R40C|PCBP2_ENST00000359282.5_Missense_Mutation_p.R40C|PCBP2_ENST00000546463.1_Missense_Mutation_p.R40C|PCBP2_ENST00000541275.1_Missense_Mutation_p.R40C|PCBP2_ENST00000455667.3_Missense_Mutation_p.R40C|PCBP2_ENST00000447282.1_Missense_Mutation_p.R40C|PCBP2_ENST00000439930.3_Missense_Mutation_p.R40C|PCBP2_ENST00000437231.1_Missense_Mutation_p.R40C|PCBP2_ENST00000552819.1_Missense_Mutation_p.R40C|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Missense_Mutation_p.R40C|PCBP2_ENST00000549863.1_Missense_Mutation_p.R40C	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	40	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TAAGAAGATGCGCGAGGAGGT	0.348000													4	138					0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52548430	52548430	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:52548430A>G	ENST00000242839.4	-	2	1082	c.926T>C	c.(925-927)gTg>gCg	p.V309A	ATP7B_ENST00000448424.2_Missense_Mutation_p.V309A|ATP7B_ENST00000542656.1_Missense_Mutation_p.V277A|ATP7B_ENST00000400370.3_Missense_Mutation_p.V309A|ATP7B_ENST00000344297.5_Missense_Mutation_p.V309A|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.V309A	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	309	HMA 3.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTGCAGAGCCACTGGGCTGGT	0.488000									Wilson disease				23	109					0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6729533	6729533	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:6729533C>T	ENST00000329858.4	-	2	1638	c.882G>A	c.(880-882)ccG>ccA	p.P294P	LPAR5_ENST00000431922.1_Silent_p.P294P	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	294						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGTACACCAGCGGGTCCAGCA	0.726000													12	25					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294335	294335	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:294335G>A	ENST00000409548.2	+	13	1992	c.1877G>A	c.(1876-1878)gGc>gAc	p.G626D	ATHL1_ENST00000409479.1_Missense_Mutation_p.G653D|ATHL1_ENST00000409655.1_Missense_Mutation_p.G378D	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	626					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGCGTCTCCGGCATCTTCTAC	0.612000													4	210					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17723627	17723627	+	Silent	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:17723627G>T	ENST00000355815.4	-	3	559	c.390C>A	c.(388-390)ccC>ccA	p.P130P	SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000435530.2_Silent_p.P100P|SREBF1_ENST00000338854.5_Silent_p.P100P|SREBF1_ENST00000261646.5_Silent_p.P100P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	100	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGCAGGCTGGGGAGGGGACA	0.627000													3	63					1	1	1	1	0
LGMN	5641	broad.mit.edu	37	14	93172859	93172859	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:93172859C>A	ENST00000393218.2	-	13	1497	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R387L|LGMN_ENST00000555699.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	387					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GCAGTGGGTCCGGAAGTGCAG	0.627000													3	81					0.115264	0.122822	1	1	0
ITCH	83737	broad.mit.edu	37	20	33033193	33033193	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:33033193A>G	ENST00000374864.4	+	11	1280	c.1067A>G	c.(1066-1068)tAt>tGt	p.Y356C	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.Y246C|ITCH_ENST00000262650.6_Missense_Mutation_p.Y397C	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTCCGGAACTATGAACAATGG	0.458000													85	137					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911062	46911062	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:46911062G>T	ENST00000378623.1	-	16	2357	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	705	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCCTCCGTTGTTGTCCCCAC	0.592000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	118					3.09899e-07	3.59704e-07	1	1	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587000													5	322					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57689388	57689388	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:57689388G>A	ENST00000562631.1	+	6	1378	c.846G>A	c.(844-846)ggG>ggA	p.G282G	GPR56_ENST00000540164.2_Silent_p.G282G|GPR56_ENST00000544297.1_Silent_p.G107G|GPR56_ENST00000568909.1_Silent_p.G282G|GPR56_ENST00000568908.1_Silent_p.G282G|GPR56_ENST00000567835.1_Silent_p.G282G|GPR56_ENST00000538815.1_Silent_p.G282G|GPR56_ENST00000456916.1_Silent_p.G282G|GPR56_ENST00000379694.4_Silent_p.G112G|GPR56_ENST00000388812.4_Silent_p.G282G|GPR56_ENST00000379696.3_Silent_p.G282G|GPR56_ENST00000562558.1_Silent_p.G282G|GPR56_ENST00000388813.5_Silent_p.G282G			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	282					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCGGAGCGGGGAGGCTGAGA	0.587000													7	40					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8812440	8812440	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:8812440G>A	ENST00000447110.1	-	3	279	c.155C>T	c.(154-156)cCg>cTg	p.P52L	PIK3R5_ENST00000584803.1_Missense_Mutation_p.P52L|PIK3R5_ENST00000581552.1_Missense_Mutation_p.P52L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	52	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAAGTGGCCCGGGTCCCTGCT	0.592000													3	30					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226535	149226535	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:149226535A>G	ENST00000407073.1	+	9	2020	c.1023A>G	c.(1021-1023)ccA>ccG	p.P341P	MBD5_ENST00000404807.1_Silent_p.P341P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	341	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCCCTCCTCCACCTTCTTGTG	0.428000													13	58					0	0	1	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602476	61602476	+	Nonstop_Mutation	SNP	A	A	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:61602476A>T	ENST00000238508.3	+	8	1253	c.1194A>T	c.(1192-1194)taA>taT	p.*398Y	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GCTCCCCCTAAATCCTGCATA	0.363000													43	211					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885277	13885277	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:13885277T>A	ENST00000327606.3	-	2	421	c.241A>T	c.(241-243)Aat>Tat	p.N81Y		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	81					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATCAGGATATTTTCCAAGATC	0.448000													108	43					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152451872	152451872	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152451872G>A	ENST00000367255.5	-	145	26737	c.26136C>T	c.(26134-26136)gtC>gtT	p.V8712V	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Silent_p.V867V|SYNE1_ENST00000423061.1_Silent_p.V8664V|SYNE1_ENST00000265368.4_Silent_p.V8712V|SYNE1_ENST00000448038.1_Silent_p.V8664V|SYNE1_ENST00000354674.4_Silent_p.V890V|SYNE1_ENST00000341594.5_Silent_p.V8324V|SYNE1_ENST00000356820.4_Silent_p.V3236V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8712	Ser-rich.				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			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)		GTGGACTGCTGACAGAGGGTC	0.468000										HNSCC(10;0.0054)			8	34					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132929	57132929	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57132929C>T	ENST00000328070.6	+	3	508	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGTCCCACCACGGCTGGACGA	0.582000													5	82					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270411	18270411	+	Splice_Site	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:18270411G>C	ENST00000377369.2	+	6	1368	c.1096_splice	c.e6+1	p.E365_splice	SLC39A12_ENST00000539911.1_Splice_Site_p.E231_splice|SLC39A12_ENST00000377374.4_Splice_Site_p.E365_splice|SLC39A12_ENST00000377371.3_Splice_Site_p.E365_splice	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	365					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.E365D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCACTCTGGAGAGTAAGTTCT	0.443000													10	39					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51957877	51957877	+	Splice_Site	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr13:51957877G>A	ENST00000311234.4	-	8	1367	c.894_splice	c.e8-1	p.P299_splice	INTS6_ENST00000398119.2_Splice_Site_p.P286_splice|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_5'UTR|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Splice_Site_p.P121_splice|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	299					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.P299S(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTACGAGGTGGCTAAAGGGGA	0.353000													10	91					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11421068	11421068	+	RNA	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:11421068G>A	ENST00000381842.3	-	0	152				PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGTGGGCGTCGTCCTTCTGGC	0.547000													22	189					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160104995	160104995	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:160104995C>T	ENST00000361216.3	+	15	2114	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L	ATP1A2_ENST00000392233.3_Silent_p.L675L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	675					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGAGCAGCTCGATGAGATCC	0.577000													34	59					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50091099	50091099	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:50091099C>T	ENST00000281631.5	+	12	1434	c.1276C>T	c.(1276-1278)Cac>Tac	p.H426Y	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.H405Y|PARP8_ENST00000514067.2_Missense_Mutation_p.H426Y|PARP8_ENST00000505697.2_Missense_Mutation_p.H426Y|PARP8_ENST00000514342.2_Missense_Mutation_p.H179Y|PARP8_ENST00000503750.2_Missense_Mutation_p.H426Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	426						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTGAAAAATCACAAATTGCT	0.448000													24	177					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012588	107012588	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:107012588C>A	ENST00000369701.3	+	23	3388	c.3161C>A	c.(3160-3162)aCt>aAt	p.T1054N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1054						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTCTCCCCACTTCAGCAGAG	0.517000													30	69					2.49675e-24	3.06205e-24	1	1	0
FAM184A	79632	broad.mit.edu	37	6	119345170	119345170	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:119345170C>A	ENST00000338891.7	-	2	1411	c.968G>T	c.(967-969)tGc>tTc	p.C323F	FAM184A_ENST00000522284.1_Missense_Mutation_p.C203F|FAM184A_ENST00000368475.4_Missense_Mutation_p.C203F|FAM184A_ENST00000521531.1_Missense_Mutation_p.C323F|FAM184A_ENST00000352896.5_Missense_Mutation_p.C203F|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	323										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTTTTGGCATTTGTCAAG	0.333000													4	213					1	1	1	1	0
CDH11	1009	broad.mit.edu	37	16	65032522	65032522	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:65032522G>T	ENST00000394156.3	-	4	919	c.466C>A	c.(466-468)Cct>Act	p.P156T	CDH11_ENST00000566827.1_Missense_Mutation_p.P30T|CDH11_ENST00000268603.4_Missense_Mutation_p.P156T			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTCCGGAGGGTTGTCATTA	0.587000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			9	95					7.48243e-07	8.6081e-07	1	1	0
FAM169A	26049	broad.mit.edu	37	5	74091962	74091962	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:74091962C>T	ENST00000389156.4	-	11	1243	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.E325K	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	385	Asp/Glu-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TCAGGTTCTTCTTCCAGGAAT	0.423000													13	207					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155232635	155232635	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chrX:155232635C>A	ENST00000424344.3	+	3	397	c.30C>A	c.(28-30)tgC>tgA	p.C10*	IL9R_ENST00000369423.2_Nonsense_Mutation_p.C78*|IL9R_ENST00000540897.1_Nonsense_Mutation_p.C68*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.C31*			Q01113	IL9R_HUMAN	interleukin 9 receptor	31					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGCATCTGCATCTGCACCT	0.597000													51	134					6.14515e-18	7.46607e-18	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:181745355G>A	ENST00000526775.1	+	37	5366	c.5201G>A	c.(5200-5202)cGa>cAa	p.R1734Q	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612000													6	168					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825460	43825460	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:43825460G>C	ENST00000372462.1	+	3	598	c.395G>C	c.(394-396)cGg>cCg	p.R132P	CDC20_ENST00000478882.1_3'UTR|CDC20_ENST00000310955.6_Missense_Mutation_p.R132P			Q12834	CDC20_HUMAN	cell division cycle 20	132					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGATCCTTCGGCTCAGTGGA	0.502000													102	164					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955550	18955550	+	Missense_Mutation	SNP	G	G	T	rs150108666		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:18955550G>T	ENST00000302797.3	-	1	1006	c.782C>A	c.(781-783)tCc>tAc	p.S261Y		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	261					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAAGAGCGGACAGGAAAAT	0.463000													33	97					1.61788e-16	1.94745e-16	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141336689	141336689	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:141336689G>A	ENST00000231484.3	-	1	1938	c.728C>T	c.(727-729)gCg>gTg	p.A243V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	243	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding	p.A243V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCAAACGCAGGGCTATT	0.512000													24	93					0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68490887	68490887	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:68490887A>G	ENST00000322244.4	-	29	2596	c.2537T>C	c.(2536-2538)gTg>gCg	p.V846A		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	846					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATGAAAGCACTGCCATCTG	0.368000													4	150					0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109572	94109572	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:94109572C>A	ENST00000358935.2	+	5	1030	c.698C>A	c.(697-699)tCt>tAt	p.S233Y		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	233					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGTGTTAACTCTAATTTACAA	0.358000													4	167					1	1	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201046135	201046135	+	Silent	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:201046135G>C	ENST00000362061.3	-	12	1966	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L	CACNA1S_ENST00000367338.3_Silent_p.L580L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	580					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCCCCCAAAGAGCTGCATGC	0.572000													16	145					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486377	125486377	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:125486377C>A	ENST00000259466.1	+	1	109	c.109C>A	c.(109-111)Cta>Ata	p.L37I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CATCATGTACCTACTCACTGC	0.498000													15	246					2.61681e-11	3.06474e-11	1	1	0
BLVRB	645	broad.mit.edu	37	19	40971542	40971542	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:40971542G>A	ENST00000263368.4	-	1	205	c.54C>T	c.(52-54)acC>acT	p.T18T	BLVRB_ENST00000595483.1_Silent_p.T18T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	18					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GCGCCAGGGTGGTGAGCCCGG	0.687000													11	26					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99762036	99762036	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:99762036C>T	ENST00000394132.2	-	6	1031	c.214G>A	c.(214-216)Gta>Ata	p.V72I	TTC23_ENST00000394136.1_Missense_Mutation_p.V72I|TTC23_ENST00000262074.4_Missense_Mutation_p.V72I|TTC23_ENST00000394130.1_Missense_Mutation_p.V72I|TTC23_ENST00000394135.3_Missense_Mutation_p.V72I|TTC23_ENST00000558663.1_Missense_Mutation_p.V72I|TTC23_ENST00000394129.2_Missense_Mutation_p.V72I|TTC23_ENST00000558613.1_Missense_Mutation_p.V72I			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	72							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTCAGTGCTACGCAACGCACA	0.448000													14	48					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843392	4843392	+	Silent	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:4843392C>A	ENST00000322110.5	+	1	842	c.777C>A	c.(775-777)atC>atA	p.I259I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCCACATCAGTGCTGTTT	0.493000													22	72					7.45023e-12	8.80481e-12	1	1	0
CTSL	1514	broad.mit.edu	37	9	90343233	90343233	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:90343233C>T	ENST00000343150.5	+	4	1208	c.318C>T	c.(316-318)ttC>ttT	p.F106F	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Silent_p.F106F|CTSL_ENST00000340342.6_Silent_p.F106F					cathepsin L																		GGAAAGTGTTCCAGGAACCTC	0.458000													15	114					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57327824	57327824	+	Missense_Mutation	SNP	C	C	T	rs35921478	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:57327824C>T	ENST00000287156.4	-	2	304	c.109G>A	c.(109-111)Gct>Act	p.A37T	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	37					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						AGGAGGAGAGCGTGCCACACC	0.572000													4	216					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47545457	47545457	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:47545457C>A	ENST00000300527.4	+	25	1999	c.1895C>A	c.(1894-1896)aCa>aAa	p.T632K	COL6A2_ENST00000397763.1_Missense_Mutation_p.T632K|COL6A2_ENST00000357838.4_Missense_Mutation_p.T632K|COL6A2_ENST00000409416.1_Missense_Mutation_p.T632K|COL6A2_ENST00000310645.5_Missense_Mutation_p.T632K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	632	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACCAACTTCACACTGGAGAAG	0.617000													3	42					0.004672	0.00510387	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400422	43400422	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:43400422G>A	ENST00000244533.3	+	1	934	c.575G>A	c.(574-576)cGt>cAt	p.R192H	ABCC10_ENST00000372530.4_Missense_Mutation_p.R235H|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	235						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TTGCTGGCCCGTGGGGCCTGT	0.637000													11	66					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68912102	68912102	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:68912102T>C	ENST00000261778.1	+	6	1225	c.1213T>C	c.(1213-1215)Tca>Cca	p.S405P		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TATAACTTTGTCAAGAGAACG	0.403000													3	45					0	0	1	0	0
MIR147A	406939	broad.mit.edu	37	9	123007320	123007320	+	RNA	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:123007320C>A	ENST00000385079.1	-	0	8					NR_029604.1																						GAAATGTTGTCTTTAGATTCA	0.468000													11	88					3.86212e-05	4.36587e-05	1	1	0
TRAK1	22906	broad.mit.edu	37	3	42264759	42264759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:42264759G>T	ENST00000327628.5	+	16	2792	c.2392G>T	c.(2392-2394)Gag>Tag	p.E798*	TRAK1_ENST00000396175.1_Nonsense_Mutation_p.E740*|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	798					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCCTCCTTTGAGTTCAAGTG	0.592000													3	34					1	1	1	1	0
LYAR	55646	broad.mit.edu	37	4	4281210	4281210	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:4281210G>C	ENST00000343470.4	-	6	633	c.393C>G	c.(391-393)gaC>gaG	p.D131E	LYAR_ENST00000452476.1_Missense_Mutation_p.D131E	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	131						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCCACACCTGGTCCAGAATGG	0.338000													39	63					0	0	1	0	0
PLEK2	26499	broad.mit.edu	37	14	67864498	67864498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr14:67864498G>A	ENST00000216446.4	-	2	228	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	PLEK2_ENST00000557388.1_5'UTR	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	30	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AGCGTGTTCTGCCGAAGGATG	0.602000													9	24					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43881682	43881682	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:43881682G>A	ENST00000562955.1	+	6	682	c.682G>A	c.(682-684)Gtc>Atc	p.V228I		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	228						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAAGGTAGGCGTCTCCATGGT	0.552000													8	26					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2880259	2880259	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr16:2880259A>C	ENST00000382280.3	+	1	90	c.11A>C	c.(10-12)cAg>cCg	p.Q4P		NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	4						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ATGGGGGCCCAGGGGGCCCAG	0.687000													3	23					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927171	130927171	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:130927171G>A	ENST00000261655.4	-	8	838	c.675C>T	c.(673-675)ccC>ccT	p.P225P	RIMBP2_ENST00000535703.1_Silent_p.P133P|RIMBP2_ENST00000536002.1_Silent_p.P133P	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	225	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGAAGTTGGAGGGCACCAGAC	0.597000													34	46					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728244	152728244	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:152728244C>G	ENST00000367255.5	-	45	7229	c.6628G>C	c.(6628-6630)Gag>Cag	p.E2210Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2210Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2217Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2247Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2210					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			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)		GACCATCCCTCAATCTCATCT	0.428000										HNSCC(10;0.0054)			8	127					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44044587	44044587	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:44044587G>A	ENST00000359947.4	+	7	1015	c.675G>A	c.(673-675)gtG>gtA	p.V225V	PTPRF_ENST00000438120.1_Silent_p.V225V|PTPRF_ENST00000372413.3_Silent_p.V225V|PTPRF_ENST00000372414.3_Silent_p.V225V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	225					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCTGTATGTGCGAGGTAAGG	0.612000													3	39					0	0	1	0	0
TTC1	7265	broad.mit.edu	37	5	159476610	159476610	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:159476610G>A	ENST00000231238.5	+	6	741	c.631G>A	c.(631-633)Gac>Aac	p.D211N	TTC1_ENST00000522793.1_Missense_Mutation_p.D211N|TTC1_ENST00000520274.1_3'UTR	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	211					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		AGCCCTGGAAGACTATAAATC	0.333000													5	52					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161029176	161029176	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:161029176A>G	ENST00000283249.2	-	6	1062	c.825T>C	c.(823-825)caT>caC	p.H275H	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Silent_p.H275H|ITGB6_ENST00000409872.1_Silent_p.H275H|ITGB6_ENST00000428609.2_Silent_p.H233H			P18564	ITB6_HUMAN	integrin, beta 6	275	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCATTCCAAAATGAGAATCAG	0.448000													10	213					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712481	140712481	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:140712481G>T	ENST00000517417.1	+	1	2230	c.2230G>T	c.(2230-2232)Gac>Tac	p.D744Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D744Y	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCGTGGACGGGGTTCG	0.642000													4	109					0.150653	0.157943	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104897724	104897724	+	Silent	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:104897724A>G	ENST00000507740.1	+	2	557	c.321A>G	c.(319-321)agA>agG	p.R107R	RIMS2_ENST00000406091.3_Silent_p.R299R|RIMS2_ENST00000436393.2_Silent_p.R77R|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.R107R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	330	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAACAGGAGAAGTCATAGGC	0.413000										HNSCC(12;0.0054)			4	151					0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925377	118925377	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:118925377G>A	ENST00000404233.3	-	7	631	c.507C>T	c.(505-507)atC>atT	p.I169I	HYOU1_ENST00000525859.1_Silent_p.I169I|HYOU1_ENST00000529972.1_Silent_p.I169I|HYOU1_ENST00000543287.1_Silent_p.I82I	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	169						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGCATCCTTGATGGGCTGCT	0.542000													9	26					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407481	77407481	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr15:77407481C>G	ENST00000560626.2	-	7	4733	c.4258G>C	c.(4258-4260)Gag>Cag	p.E1420Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E1420Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1420	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TCTTCAGTCTCTTCCATGTCA	0.498000													6	160					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065040	55065040	+	RNA	SNP	T	T	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:55065040T>A	ENST00000526016.1	-	0	385					NR_038174.2																						CATTTTTTTTTAGGAGCTCCT	0.393000													29	40					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141806556	141806556	+	Splice_Site	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:141806556A>G	ENST00000389484.3	-	11	2759	c.1789_splice	c.e11+1	p.D596_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	596					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCACTTACCATCTTTCAGGA	0.418000										TSP Lung(27;0.18)			45	148					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275954	1275954	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:1275954G>A	ENST00000447027.1	+	35	15575	c.15517G>A	c.(15517-15519)Ggt>Agt	p.G5173S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G5170S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5170	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGAGCAGCGGTTTCAGCAA	0.607000													11	31					0	0	1	0	0
CARS	833	broad.mit.edu	37	11	3061081	3061081	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:3061081G>A	ENST00000397114.3	-	5	633	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CARS_ENST00000401769.3_Missense_Mutation_p.T109M|CARS_ENST00000397111.5_Missense_Mutation_p.T96M|CARS_ENST00000278224.9_Missense_Mutation_p.T96M|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000380525.4_Missense_Mutation_p.T179M			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	96					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATCAATATCCGTAATGTTCAT	0.294000			T	ALK	ALCL								4	42					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233841	10233841	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:10233841G>A	ENST00000315330.4	-	3	448	c.386C>T	c.(385-387)gCt>gTt	p.A129V	CLEC1A_ENST00000457018.2_Missense_Mutation_p.A96V|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	129					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CTTACCTCCAGCTTTGTTATA	0.453000													13	264					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGATGACGCTTATCTCGG	0.542000													6	209					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635464	32635464	+	Silent	SNP	C	C	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr9:32635464C>T	ENST00000242310.4	-	1	203	c.114G>A	c.(112-114)gcG>gcA	p.A38A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	38					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAAGGATACCCGCTAAAGTAA	0.567000													7	153					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109182226	109182226	+	Missense_Mutation	SNP	C	C	A	rs148301801		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:109182226C>A	ENST00000326495.5	-	15	2781	c.2688G>T	c.(2686-2688)aaG>aaT	p.K896N	SSH1_ENST00000360239.3_Missense_Mutation_p.K584N	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	896					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGGGGGGCTCTTCAGTGAGC	0.597000													26	72					3.6726e-16	4.38017e-16	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7080343	7080343	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr18:7080343G>A	ENST00000389658.3	-	2	268	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	59	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGACGGGCCGACCTGGCACA	0.547000													72	110					0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051444	110051444	+	Missense_Mutation	SNP	C	C	T	rs139908524		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:110051444C>T	ENST00000369864.4	-	2	440	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	AMIGO1_ENST00000369862.1_Missense_Mutation_p.V31M			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	31	LRRNT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTAACCACGGCTCGGCCA	0.627000													11	29					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059150	146059150	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:146059150G>T	ENST00000454497.2	-	21	2719	c.2582C>A	c.(2581-2583)gCa>gAa	p.A861E	OTUD4_ENST00000447906.2_Missense_Mutation_p.A926E|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	925							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCTCACACTTGCTTCAGGGAG	0.498000													4	126					1	1	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175917	57175917	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:57175917G>A	ENST00000537055.2	-	2	881	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.T239M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGCTCGCCCGTGTGCACGCG	0.711000													7	18					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454125	35454125	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:35454125A>G	ENST00000378880.2	-	11	2387	c.1942T>C	c.(1942-1944)Ttc>Ctc	p.F648L	PAMR1_ENST00000278360.3_Missense_Mutation_p.F665L|PAMR1_ENST00000378878.3_Missense_Mutation_p.F537L|PAMR1_ENST00000532848.1_Missense_Mutation_p.F608L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	648	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTGGCACAGAACATGTTATCA	0.597000													15	42					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156525	22156525	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr19:22156525G>A	ENST00000397126.4	-	4	1459	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGGTTTGAGGACCAGTTGA	0.378000													12	169					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73023290	73023290	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr6:73023290G>A	ENST00000264839.7	+	24	3592	c.3592G>A	c.(3592-3594)Gcc>Acc	p.A1198T	RIMS1_ENST00000517960.1_Missense_Mutation_p.A1141T|RIMS1_ENST00000491071.2_Missense_Mutation_p.A1172T|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A669T|RIMS1_ENST00000538414.1_Missense_Mutation_p.A155T|RIMS1_ENST00000348717.5_Missense_Mutation_p.A1141T|RIMS1_ENST00000521978.1_Missense_Mutation_p.A1349T|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1349					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGATGTTTCCGCCATTTCCCG	0.448000													11	36					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180688116	180688116	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:180688116G>A	ENST00000357559.4	+	15	1957	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	FXR1_ENST00000480918.1_Missense_Mutation_p.D512N|FXR1_ENST00000305586.7_Missense_Mutation_p.D440N|FXR1_ENST00000468861.1_Missense_Mutation_p.D440N|FXR1_ENST00000491062.1_Missense_Mutation_p.D476N|FXR1_ENST00000445140.2_Missense_Mutation_p.D525N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	525					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GACTGAATCTGATACAGCTTC	0.353000													12	206					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238269816	238269816	+	Splice_Site	SNP	C	C	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:238269816C>A	ENST00000295550.4	-	16	6610	c.6156_splice	c.e16-1	p.G2053_splice	COL6A3_ENST00000409809.1_Splice_Site_p.G1847_splice|COL6A3_ENST00000347401.3_Splice_Site_p.G1852_splice|COL6A3_ENST00000346358.4_Splice_Site_p.G1853_splice|COL6A3_ENST00000353578.4_Splice_Site_p.G1847_splice|COL6A3_ENST00000472056.1_Splice_Site_p.G1446_splice	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2053	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAATACCCTGAAACAA	0.478000													4	72					2.56e-06	2.9193e-06	1	1	0
TET1	80312	broad.mit.edu	37	10	70405419	70405419	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:70405419C>G	ENST00000373644.4	+	4	3142	c.2933C>G	c.(2932-2934)tCc>tGc	p.S978C		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	978					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.S978C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACTACCCTTTCCAACTCACAT	0.363000													17	72					0	0	1	0	0
SLC25A19	60386	broad.mit.edu	37	17	73282528	73282528	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:73282528G>A	ENST00000402418.3	-	2	1054	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	SLC25A19_ENST00000416858.2_Missense_Mutation_p.R49C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R49C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R49C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R49C|SLC25A19_ENST00000442286.2_Missense_Mutation_p.R49C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	49						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			CGAGACAGGCGCTCATGCTGA	0.532000													4	118					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692944	89692944	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr10:89692944G>A	ENST00000371953.3	+	5	1785	c.428G>A	c.(427-429)gGc>gAc	p.G143D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	143	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G143fs*4(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACATCGGGGCAAATTTTTA	0.388000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	146					0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39593678	39593678	+	Missense_Mutation	SNP	C	C	T	rs148086126	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr17:39593678C>T	ENST00000246646.3	-	7	1356	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	453	Tail.					intermediate filament	structural molecule activity	p.G453R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AATCGGCTTCCGGTGGTGCTG	0.592000													8	9					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240966240	240966240	+	Silent	SNP	G	G	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:240966240G>A	ENST00000366565.1	-	16	1704	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	RGS7_ENST00000366562.4_Silent_p.S441S|RGS7_ENST00000446183.2_Silent_p.S357S|RGS7_ENST00000348120.2_Silent_p.S388S|RGS7_ENST00000407727.1_Silent_p.S441S|RGS7_ENST00000331110.7_Silent_p.S415S|RGS7_ENST00000366564.1_Silent_p.S441S|RGS7_ENST00000401882.1_Silent_p.S388S|RGS7_ENST00000366563.1_Silent_p.S441S	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	441	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.S441S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GATAGGCACTGGATCTTATAA	0.348000													19	189					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65638052	65638052	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:65638052A>T	ENST00000307998.6	-	5	675	c.445T>A	c.(445-447)Tgc>Agc	p.C149S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.C149S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	149	EGF-like 2; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGCAGGTGCACTGATAGGAG	0.622000													13	27					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334292	77334293	+	In_Frame_Ins	INS	-	-	CAGCAA	rs60179124	by1000genomes	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:77334292_77334293insCAGCAA	ENST00000477717.1	+	2	361_362	c.126_127insCAGCAA	c.(124-129)caagca>caCAGCAAagca	p.42_42Q>HSK	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	42	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcagcagcaaca	0.713													14	20	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)aafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.520													7	1186	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													4	4	---	---	---	---					
IL17RC	84818	broad.mit.edu	37	3	9970118	9970119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr3:9970118_9970119insC	ENST00000295981.3	+	11	1438_1439	c.1220_1221insC	c.(1219-1221)gccfs	p.A407fs	IL17RC_ENST00000383812.4_Frame_Shift_Ins_p.A321fs|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Frame_Shift_Ins_p.A336fs|IL17RC_ENST00000416074.2_Frame_Shift_Ins_p.A192fs|IL17RC_ENST00000413608.1_Frame_Shift_Ins_p.A336fs|IL17RC_ENST00000455057.1_Frame_Shift_Ins_p.A321fs	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	407						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCGGGTGGGGACCCCTGCCAGC	0.683													7	94	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22749784	22749785	+	RNA	DEL	TA	TA	-	rs73803318		TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr4:22749784_22749785delTA	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGCatatgtatatatatata	0.342													2	4	---	---	---	---					
PTGER4	5734	broad.mit.edu	37	5	40681358	40681359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:40681358_40681359insC	ENST00000302472.3	+	2	1287_1288	c.263_264insC	c.(262-264)gcafs	p.A88fs	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	88					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGCCCGGGGGCCAGCCGCTGT	0.609											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	267	---	---	---	---					
SIMC1	375484	broad.mit.edu	37	5	175717758	175717759	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr5:175717758_175717759delCT	ENST00000443967.1	+	4	1581_1582	c.1174_1175delCT	c.(1174-1176)cfs	p.L392fs	SIMC1_ENST00000429602.2_Frame_Shift_Del_p.L411fs|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1									p.L392F(1)									AGTTCCTTGGCTCTCTGTCATG	0.515													15	110	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													4	8	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			3	4	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													18	75	---	---	---	---					
OR6C65	403282	broad.mit.edu	37	12	55794772	55794773	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr12:55794772_55794773insT	ENST00000379665.2	+	1	559_560	c.460_461insT	c.(460-462)tttfs	p.F154fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TTTTCTCATTATTTTTCCCCCC	0.436													17	415	---	---	---	---					
ZHX3	23051	broad.mit.edu	37	20	39831282	39831285	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:39831282_39831285delGTTT	ENST00000309060.3	-	4	2687_2690	c.2272_2275delAAAC	c.(2272-2277)tgfs	p.KL758fs	ZHX3_ENST00000432768.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.KL758fs|ZHX3_ENST00000540170.1_Frame_Shift_Del_p.KL758fs			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	758					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TGCTCTGCCAGTTTGTTTGACTCA	0.544													24	125	---	---	---	---					
DIDO1	11083	broad.mit.edu	37	20	61513443	61513446	+	Frame_Shift_Del	DEL	CTGT	CTGT	-	rs8123160	byFrequency	TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr20:61513443_61513446delCTGT	ENST00000266070.4	-	16	4187_4190	c.3862_3865delACAG	c.(3862-3867)cafs	p.TA1288fs	DIDO1_ENST00000395343.1_Frame_Shift_Del_p.TA1288fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1288					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTTGTGGCTGCTGTGGCTGGGCTG	0.632													12	119	---	---	---	---					
HSPA13	6782	broad.mit.edu	37	21	15753855	15753856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BA-5559-01A-01D-1512-08	TCGA-BA-5559-10A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0845927-fc9a-41b2-9431-619952878e18	ca4aefda-8e9e-416d-8d0a-d0be49d62753	g.chr21:15753855_15753856insC	ENST00000285667.3	-	2	101_102	c.34_35insG	c.(34-36)tttfs	p.F12fs	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	12						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGAGTCAAAACAGCCGATCCT	0.366													15	22	---	---	---	---					
