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
TRPC1	7220	broad.mit.edu	37	3	142499837	142499837	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:142499837G>A	ENST00000273482.6	+	5	1215	c.824G>A	c.(823-825)cGt>cAt	p.R275H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R309H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	309					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R275H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATTTAAGTCGTCTAAAACTT	0.368000													16	44					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10478970	10478970	+	Splice_Site	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10478970C>A	ENST00000525621.1	-	4	799		c.e4+1		TYK2_ENST00000529370.1_Splice_Site|TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000524462.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCTCCACCCACCTTATGCGGA	0.542000													40	47					1.8453e-21	2.12678e-21	1	1	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													3	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGACTGCTTGTAGATGGCCAT	0.622000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			14	30					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602224	48602224	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:48602224G>A	ENST00000340553.3	+	7	1199	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	313					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R313H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GCAGCACAGCGTTGTGCATCC	0.458000													5	31					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3647557	3647557	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:3647557T>C	ENST00000294008.3	-	7	2146	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	502	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.P502P(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGGCAGGAAGTGGTGGCGTGC	0.567000								Direct reversal of damage					4	66					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48145406	48145406	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:48145406C>T	ENST00000311303.3	-	16	2567	c.2222G>A	c.(2221-2223)gGa>gAa	p.G741E	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.G738E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	741						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.G741E(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTCTCATTTCCTGGAGCCAA	0.403000													26	149					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23858221	23858221	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:23858221T>G	ENST00000304710.4	-	2	339	c.266A>C	c.(265-267)aAg>aCg	p.K89T		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	89						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	p.K89T(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TCGACCGAACTTCACATTGAA	0.527000													8	40					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001373	150001373	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr6:150001373C>A	ENST00000543571.1	-	5	2778	c.2231G>T	c.(2230-2232)cGa>cTa	p.R744L	LATS1_ENST00000253339.5_Missense_Mutation_p.R744L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	744	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.R744Q(2)|p.R744L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACTTGATTTCGAAGAAGAAC	0.383000													4	114					1	1	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5427961	5427961	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:5427961G>A	ENST00000399537.4	-	5	1842	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	TNRC18_ENST00000430969.1_Silent_p.P498P			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	498	Pro-rich.						DNA binding	p.P498P(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGGGCGCCCGGGCTCCAGGC	0.736000													3	6					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160808748	160808748	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:160808748C>G	ENST00000368034.4	-	4	924	c.747G>C	c.(745-747)aaG>aaC	p.K249N	CD244_ENST00000368033.3_Missense_Mutation_p.K254N|CD244_ENST00000322302.7_Missense_Mutation_p.K157N|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Missense_Mutation_p.K249N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	254					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity	p.K254N(1)|p.K249N(1)		central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTCCTTCCTCTTTCTCCTCC	0.522000													10	32					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100190473	100190473	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:100190473C>T	ENST00000241071.6	+	5	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	FBXO24_ENST00000465843.1_Missense_Mutation_p.P195L|FBXO24_ENST00000427939.2_Missense_Mutation_p.P247L|FBXO24_ENST00000360609.2_Missense_Mutation_p.P195L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.P197L	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	209						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.P209L(1)|p.P247L(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCGGGAGCCGCAGGAAGTG	0.567000													6	35					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182742	95182742	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:95182742C>T	ENST00000027335.3	-	9	1073	c.949G>A	c.(949-951)Gga>Aga	p.G317R	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.G317R	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	317	Cadherin 3.					integral to membrane	calcium ion binding	p.G317R(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGTGGTTTTCCGTACTCATCC	0.398000													8	126					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34897281	34897281	+	Silent	SNP	G	G	A	rs139633075	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr21:34897281G>A	ENST00000381831.3	-	11	1356	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L	GART_ENST00000381839.3_Silent_p.L365L|GART_ENST00000381815.4_Silent_p.L365L|GART_ENST00000361093.5_Silent_p.L365L	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	365					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.L365L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AACACCTCCAGTCCTAGAGCT	0.443000													27	54					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874029	39874029	+	Splice_Site	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:39874029G>A	ENST00000260356.5	+	2	136		c.e2-1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCTGCTACAGGATCCCTGCT	0.637000											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	27					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													3	51					0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665044	95665044	+	Silent	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:95665044C>T	ENST00000324972.6	+	13	1588	c.1395C>T	c.(1393-1395)taC>taT	p.Y465Y	DYNC1I1_ENST00000537881.1_Silent_p.Y428Y|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000447467.2_Silent_p.Y448Y|DYNC1I1_ENST00000437599.1_Silent_p.Y445Y|DYNC1I1_ENST00000359388.4_Silent_p.Y428Y|DYNC1I1_ENST00000457059.1_Silent_p.Y448Y	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	465					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.Y465Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GTACAGTCTACACGGCTTGTC	0.443000													50	106					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621881	7621881	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:7621881T>A	ENST00000256861.6	-	9	1333	c.1255A>T	c.(1255-1257)Atc>Ttc	p.I419F	ITIH5_ENST00000397146.2_Missense_Mutation_p.I419F|ITIH5_ENST00000298441.6_Missense_Mutation_p.I205F|ITIH5_ENST00000446830.2_Missense_Mutation_p.I201F|ITIH5_ENST00000397145.2_Missense_Mutation_p.I419F|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	419	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I419F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGTTGAGGATCTTGAGGGTG	0.607000													4	39					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	31					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942529	6942529	+	Silent	SNP	T	T	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:6942529T>C	ENST00000317834.3	+	1	325	c.297T>C	c.(295-297)gtT>gtC	p.V99V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99V(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGTGTTGGTTCACTTCTTGG	0.423000													60	107					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179045155	179045155	+	Missense_Mutation	SNP	A	A	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:179045155A>T	ENST00000356731.5	-	5	2241	c.706T>A	c.(706-708)Tat>Aat	p.Y236N	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.Y236N|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.Y236N			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	236	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	p.Y236N(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CCTCCACCATAAGCACCACGC	0.507000													27	136					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110819778	110819778	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:110819778C>A	ENST00000282356.4	+	11	1434	c.1036C>A	c.(1036-1038)Cat>Aat	p.H346N	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.H346N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	346					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.H346N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGCAGCAGCCATGGCAGCAT	0.532000													3	48					1	1	1	1	0
STOML1	9399	broad.mit.edu	37	15	74281502	74281502	+	Missense_Mutation	SNP	A	A	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:74281502A>C	ENST00000316900.5	-	3	461	c.337T>G	c.(337-339)Tcc>Gcc	p.S113A	STOML1_ENST00000541638.1_Missense_Mutation_p.S71A|STOML1_ENST00000359750.4_Missense_Mutation_p.S113A|STOML1_ENST00000561656.1_Missense_Mutation_p.S26A|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000316911.6_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	113						integral to membrane	sterol binding	p.S113A(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCTGAAAGGAGTCAATGAAG	0.607000													7	23					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198741	52198741	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr20:52198741C>G	ENST00000371471.2	-	2	1050	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.E209Q			O75362	ZN217_HUMAN	zinc finger protein 217	209					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.E209Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGATGCTCTCGGCCGCGTGC	0.502000													6	126					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23883310	23883310	+	Splice_Site	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr14:23883310G>A	ENST00000355349.3	-	38	5723	c.5559_splice	c.e38-1	p.T1854_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1854			T -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T1854M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCCTCCTCCGTCTGGGGGCC	0.597000													17	40					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117695862	117695862	+	Missense_Mutation	SNP	G	G	A	rs145818315	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:117695862G>A	ENST00000369458.3	-	4	653	c.575C>T	c.(574-576)tCg>tTg	p.S192L	VTCN1_ENST00000359008.4_Missense_Mutation_p.S195L|VTCN1_ENST00000539893.1_Missense_Mutation_p.S97L|VTCN1_ENST00000328189.3_Missense_Mutation_p.S76L|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	192	Ig-like V-type 2.					integral to membrane|plasma membrane		p.S192L(1)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GGAGACTTCCGAGAAGTTGGC	0.517000													5	93					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61946480	61946480	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:61946480C>A	ENST00000280772.1	-	17	2269	c.2078G>T	c.(2077-2079)aGc>aTc	p.S693I	ANK3_ENST00000373827.2_Missense_Mutation_p.S687I|ANK3_ENST00000503366.1_Missense_Mutation_p.S676I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	693					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S693I(1)|p.S354I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACCTTATTGCTCAGGTTCAC	0.493000													4	19					0.00024832	0.000272351	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7369753	7369753	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:7369753G>A	ENST00000311403.4	-	3	707	c.368C>T	c.(367-369)cCc>cTc	p.P123L	ZBTB4_ENST00000380599.4_Missense_Mutation_p.P123L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	123	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P123L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGACCCGGGGTGGGGAAGA	0.592000													3	4					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463000													9	46					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382729	32382729	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chrX:32382729C>G	ENST00000357033.4	-	36	5330	c.5124G>C	c.(5122-5124)aaG>aaC	p.K1708N	DMD_ENST00000378677.2_Missense_Mutation_p.K1704N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1708	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.K1703N(1)|p.K1704N(1)|p.K1708N(1)|p.K367N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGGGGTTTCTTTTTCTCTG	0.368000													17	107					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907274	164907274	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:164907274C>T	ENST00000475390.1	-	2	1788	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D449N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	449						integral to membrane		p.D449N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AAGGCCCCATCTTGGACATAG	0.423000										HNSCC(40;0.11)			15	40					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609798	95609798	+	Missense_Mutation	SNP	T	T	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:95609798T>A	ENST00000395505.2	-	3	1255	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	ZNF484_ENST00000375495.3_Missense_Mutation_p.K424M|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.K426M|ZNF484_ENST00000332591.6_Missense_Mutation_p.K388M	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K424M(1)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAAATGTGACTTCCGGATAAA	0.363000													24	45					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212831	134212831	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:134212831G>T	ENST00000535456.2	+	2	458	c.270G>T	c.(268-270)ttG>ttT	p.L90F	GLB1L2_ENST00000389881.3_Missense_Mutation_p.L90F|GLB1L2_ENST00000339772.7_Missense_Mutation_p.L90F	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	90					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L90F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCTGTGGCTTGAACACCCTCA	0.592000													4	60					0.217242	0.223825	1	1	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													4	25					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296555	39296555	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:39296555C>T	ENST00000345847.4	-	1	184	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	62	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R62H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						gcagctgggacggcagcAGGT	0.667000													9	77					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22413237	22413237	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:22413237G>A	ENST00000344548.3	+	6	615	c.364G>A	c.(364-366)Gac>Aac	p.D122N	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000421089.2_Missense_Mutation_p.D164N|CDC42_ENST00000400259.1_Missense_Mutation_p.D122N|CDC42_ENST00000315554.8_Missense_Mutation_p.D122N	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	122					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	p.D122N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TCTCAGAGATGACCCCTCTAC	0.433000													28	161					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	114					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70331681	70331681	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:70331681C>G	ENST00000338508.4	-	32	4719	c.4720G>C	c.(4720-4722)Gat>Cat	p.D1574H	SHANK2_ENST00000449833.2_Missense_Mutation_p.D978H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D977H|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1194H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.D978H(1)|p.D1574H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACAAAGCTATCTACATCTTCT	0.562000													30	67					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90028237	90028237	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:90028237C>A	ENST00000563594.1	+	8	1769	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	DEF8_ENST00000567874.1_Missense_Mutation_p.R198S|DEF8_ENST00000570182.1_Missense_Mutation_p.R248S|DEF8_ENST00000268676.7_Missense_Mutation_p.R319S|DEF8_ENST00000563795.1_Missense_Mutation_p.R258S|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000569453.1_Missense_Mutation_p.R258S	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	319					intracellular signal transduction		zinc ion binding	p.R319S(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GATCCCTGCACGCGTTGTACA	0.642000													6	24					2.7689e-08	3.13808e-08	1	1	0
ART1	417	broad.mit.edu	37	11	3681250	3681250	+	Silent	SNP	C	C	T	rs147920431	byFrequency	TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:3681250C>T	ENST00000250693.1	+	3	602	c.501C>T	c.(499-501)agC>agT	p.S167S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	167					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	p.S167S(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TCCTGGGCAGCGGCCAGCGTC	0.706000													4	51					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385015	133385015	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:133385015G>A	ENST00000204726.3	-	5	1198	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	GOLGA3_ENST00000450791.2_Missense_Mutation_p.R214C|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R214C|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R214C|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R214C	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	214	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R214C(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACACTGGTGCGCAGGAAGGAA	0.512000													81	222					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73818612	73818612	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:73818612C>G	ENST00000293218.3	+	15	2120	c.2120C>G	c.(2119-2121)tCc>tGc	p.S707C	UNK_ENST00000589666.1_Missense_Mutation_p.S631C			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	631							nucleic acid binding|zinc ion binding	p.S631C(1)|p.S707C(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAAGCTTCTCCCCGGGCACT	0.617000													21	65					0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10218236	10218236	+	Missense_Mutation	SNP	T	T	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr19:10218236T>G	ENST00000428358.1	+	3	417	c.245T>G	c.(244-246)gTc>gGc	p.V82G	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.V82G|PPAN_ENST00000253107.7_Missense_Mutation_p.V82G|PPAN_ENST00000556468.1_Missense_Mutation_p.V82G|PPAN_ENST00000393793.1_Missense_Mutation_p.V29G	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		82	Brix.				RNA splicing	nucleolus	protein binding	p.V82G(2)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCCCTCGGGGTCACACACTTT	0.507000													3	36					0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157817685	157817685	+	Silent	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:157817685A>G	ENST00000490689.2	-	4	1812	c.279T>C	c.(277-279)taT>taC	p.Y93Y	SHOX2_ENST00000441443.2_Silent_p.Y93Y|SHOX2_ENST00000389589.4_Silent_p.Y246Y|SHOX2_ENST00000425436.3_Silent_p.Y222Y|SHOX2_ENST00000483851.2_Silent_p.Y222Y			O60902	SHOX2_HUMAN	short stature homeobox 2	222					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y246Y(1)|p.Y93Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTACGTTGACATAAGGTGCGA	0.408000													17	21					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	94993257	94993257	+	Missense_Mutation	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr7:94993257G>A	ENST00000265627.5	-	6	623	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	PON3_ENST00000427422.1_Missense_Mutation_p.L205F|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3									p.L205F(1)|p.L205V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			CTGTAGAAAAGAACATAAGTC	0.443000													11	154					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086229	44086229	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:44086229G>A	ENST00000359947.4	+	31	5683	c.5343G>A	c.(5341-5343)gaG>gaA	p.E1781E	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.E1140E|PTPRF_ENST00000438120.1_Silent_p.E1772E|PTPRF_ENST00000372413.3_Silent_p.E1772E|PTPRF_ENST00000372414.3_Silent_p.E1781E	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1781	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.E1771E(1)		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)				TCCTGCGTGAGTTCAAGGTCA	0.562000													33	81					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	346415	346415	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr12:346415C>G	ENST00000343164.4	-	6	657	c.605G>C	c.(604-606)gGg>gCg	p.G202A	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G110A	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	202					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G202A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCGCAGGGCCCCCAGGTGCTG	0.602000													5	66					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113563024	113563024	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr8:113563024C>T	ENST00000297405.5	-	27	4684	c.4440G>A	c.(4438-4440)atG>atA	p.M1480I	CSMD3_ENST00000343508.3_Missense_Mutation_p.M1440I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M1376I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1480I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1480	CUB 8.					integral to membrane|plasma membrane		p.M1480I(1)|p.M1440I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTAAAAGCATATCATTTT	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	69					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344078	248344078	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:248344078C>G	ENST00000359682.2	+	1	791	c.791C>G	c.(790-792)tCt>tGt	p.S264C		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGGCCCACATCTGATCACTCC	0.522000													3	188					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44047199	44047199	+	Missense_Mutation	SNP	A	A	C	rs79482684		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr2:44047199A>C	ENST00000543989.1	-	7	2024	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	ABCG5_ENST00000405322.1_Missense_Mutation_p.F331V|ABCG5_ENST00000260645.1_Missense_Mutation_p.F502V			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	502	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.F502V(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGCAGAAAAATATCCAAAT	0.423000													8	18					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555437	45555437	+	Silent	SNP	G	G	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr15:45555437G>A	ENST00000347644.3	+	5	506	c.441G>A	c.(439-441)acG>acA	p.T147T	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	147					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.T147T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGCTTTGGACGAAATGGTAAG	0.453000													16	26					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160135665	160135665	+	Missense_Mutation	SNP	C	C	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:160135665C>G	ENST00000357388.3	+	11	2043	c.1592C>G	c.(1591-1593)tCt>tGt	p.S531C	SMC4_ENST00000360111.2_Missense_Mutation_p.S531C|SMC4_ENST00000469762.1_Missense_Mutation_p.S506C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.S531C|SMC4_ENST00000344722.5_Missense_Mutation_p.S531C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	531					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	p.S531C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATTGCAGCTTCTGAGACTCTC	0.388000													11	42					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701333	17701333	+	Missense_Mutation	SNP	C	C	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr17:17701333C>A	ENST00000353383.1	+	3	5540	c.5071C>A	c.(5071-5073)Caa>Aaa	p.Q1691K	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1691						cytoplasm|nucleus	zinc ion binding	p.Q1691K(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGCCTCTGCCAAAACCCGGC	0.597000													4	78					2.56e-06	2.85377e-06	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84213451	84213451	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr16:84213451G>C	ENST00000567759.1	-	14	1888	c.1706C>G	c.(1705-1707)gCt>gGt	p.A569G	TAF1C_ENST00000341690.6_Missense_Mutation_p.A475G|TAF1C_ENST00000566732.1_Missense_Mutation_p.A543G|TAF1C_ENST00000541676.1_Missense_Mutation_p.A476G|TAF1C_ENST00000570117.1_Missense_Mutation_p.A237G|TAF1C_ENST00000378541.4_Missense_Mutation_p.A569G	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	569					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.A569G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGACGGCAGCCAGACCTGG	0.677000													6	5					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150890399	150890399	+	Silent	SNP	G	G	T	rs139813476		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chrX:150890399G>T	ENST00000370350.3	+	4	451	c.366G>T	c.(364-366)gcG>gcT	p.A122A		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	122						endoplasmic reticulum|integral to membrane		p.A122A(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCAGTGGCGCAGACTAGCC	0.542000													6	172					0.0215528	0.0228998	1	1	0
KDM4C	23081	broad.mit.edu	37	9	6986546	6986546	+	Missense_Mutation	SNP	G	G	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr9:6986546G>C	ENST00000381309.3	+	11	2122	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	KDM4C_ENST00000428870.2_Missense_Mutation_p.E206D|KDM4C_ENST00000543771.1_Missense_Mutation_p.E519D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E519D|KDM4C_ENST00000442236.2_Missense_Mutation_p.E338D|KDM4C_ENST00000535193.1_Missense_Mutation_p.E541D|KDM4C_ENST00000536108.1_Missense_Mutation_p.E338D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	519					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.E519D(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGTGGCAGAGAGTAATGGTG	0.512000													11	41					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89250394	89250394	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:89250394C>T	ENST00000370521.3	+	7	1417	c.1058C>T	c.(1057-1059)tCa>tTa	p.S353L	PKN2_ENST00000370505.3_Missense_Mutation_p.S196L|PKN2_ENST00000370513.5_Missense_Mutation_p.S353L|PKN2_ENST00000544045.1_Missense_Mutation_p.S27L|PKN2_ENST00000316005.7_Missense_Mutation_p.S353L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	353	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.S353L(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		AAAGCAACATCAGTTGCACTG	0.423000													4	70					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929450	4929450	+	Missense_Mutation	SNP	C	C	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr11:4929450C>T	ENST00000359350.4	+	1	851	c.851C>T	c.(850-852)cCc>cTc	p.P284L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGTGCCGCCCCTTATGAAC	0.453000													28	77					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	32983870	32983870	+	Missense_Mutation	SNP	A	A	G			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr10:32983870A>G	ENST00000375030.2	+	9	971	c.353A>G	c.(352-354)gAa>gGa	p.E118G	C10orf68_ENST00000375025.4_Missense_Mutation_p.E110G|C10orf68_ENST00000375028.3_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	110								p.E110G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TCAAAACTGGAAATGCAAATT	0.289000													3	28					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38033912	38033912	+	Missense_Mutation	SNP	G	G	T			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr1:38033912G>T	ENST00000373062.3	-	14	2013	c.1915C>A	c.(1915-1917)Caa>Aaa	p.Q639K	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	639					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.Q639K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GTTTTTCTTTGTTCTTCAGGT	0.343000													17	44					0.00152264	0.00164349	1	1	0
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													8	94	---	---	---	---					
PLXNA1	5361	broad.mit.edu	37	3	126736667	126736668	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr3:126736667_126736668insC	ENST00000251772.4	+	18	3592_3593	c.3523_3524insC	c.(3523-3525)cctfs	p.P1175fs	PLXNA1_ENST00000393409.2_Frame_Shift_Ins_p.P1198fs			Q9UIW2	PLXA1_HUMAN	plexin A1	1198	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACACCCTGTACCCTCACCGTG	0.649													25	73	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													5	6	---	---	---	---					
SLC34A2	10568	broad.mit.edu	37	4	25678030	25678031	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr4:25678030_25678031insAA	ENST00000382051.3	+	13	1782_1783	c.1732_1733insAA	c.(1732-1734)ctgfs	p.L578fs	SLC34A2_ENST00000504570.1_Frame_Shift_Ins_p.L577fs|SLC34A2_ENST00000503434.1_Frame_Shift_Ins_p.L577fs	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	578					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCTGCAGTCTCGCTGCCCACGC	0.629			T	ROS1	NSCLC								35	110	---	---	---	---					
ARSI	340075	broad.mit.edu	37	5	149677343	149677343	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr5:149677343delC	ENST00000328668.7	-	2	1723	c.1144delG	c.(1144-1146)ccfs	p.A382fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	382						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGTGGTGAGGCCCGGCCCTCG	0.642													26	136	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48939032	48939033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-5147-01A-01D-1625-08	TCGA-75-5147-10A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52910a60-bb15-4ba5-9d09-50d8ee6a445b	84c16359-c463-43b1-bf74-0c47a4a57bdd	g.chr13:48939032_48939033insA	ENST00000267163.4	+	9	1002_1003	c.864_865insA	c.(862-867)gtaaaafs	p.VK288fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	288					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTTCAGGTGAAAAATGTTTA	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	4	---	---	---	---