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
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378000													3	200					0	0	1	0	0
P2RY12	0	broad.mit.edu	37	3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	ENST00000302632.3	-	3	1051	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	251					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428000													3	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	ENST00000420246.2	-	4	505	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000455263.2_Missense_Mutation_p.T125P|TP53_ENST00000269305.4_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000359597.4_Missense_Mutation_p.T125P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAACTGACCGTGCAAGTCACA	0.547000		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)			39	43					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	ENST00000392314.1	-	5	867	c.476C>A	c.(475-477)aCa>aAa	p.T159K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.T159K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	159						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388000													32	91					7.53189e-24	7.76727e-24	1	1	0
DMC1	11144	broad.mit.edu	37	22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	ENST00000216024.2	-	9	773	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	166					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403000								Homologous recombination					35	46					0	0	1	0	0
H3F3A	3020	broad.mit.edu	37	1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	ENST00000366814.3	+	2	224	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3A_ENST00000366813.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R					H3 histone, family 3A									p.G35R(11)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTCTACTGGAGGGGTGAAGAA	0.458000			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	ENST00000306100.5	-	5	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	163						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308000													12	19					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	ENST00000260382.5	+	12	1503	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418000													3	61					0	0	1	0	0
NSUN5P1	0	broad.mit.edu	37	7	75044449	75044449	+	RNA	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75044449T>G	ENST00000393633.2	+	0	3617																				large_intestine(1)|lung(1)	2						TCCCATGTCATCGATGCCTGT	0.637000													12	26					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	ENST00000586582.1	-	11	1319	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627000													3	94					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	ENST00000296946.2	-	4	1031	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_ENST00000366871.3_Missense_Mutation_p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	188					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557000									Chordoma, Familial Clustering of				66	296					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	ENST00000540456.1	-	13	1244	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000381982.3_Intron			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592000													27	85					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	ENST00000539173.1	+	10	2243	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.R603Q	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	603	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522000													37	55					0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	ENST00000369271.3	-	15	2150	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T617M|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	617					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607000													15	148					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	ENST00000340748.4	-	32	3767	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612000													3	76					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343000													8	32					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248540	94248540	+	Silent	SNP	G	G	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	ENST00000515393.1	-	9	1491	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000505208.1_Silent_p.R277R|MCTP1_ENST00000505078.1_Silent_p.R14R|MCTP1_ENST00000312216.8_Silent_p.R277R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	498	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473000													22	72					1.64293e-13	1.66821e-13	1	1	0
UCN	7349	broad.mit.edu	37	2	27530455	27530455	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	ENST00000296099.2	-	2	607	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	103						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662000													11	39					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5905694	5905694	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438000													23	23					0	0	1	0	0
MYL2	4633	broad.mit.edu	37	12	111348957	111348957	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:111348957A>G	ENST00000228841.8	-	7	472	c.425T>C	c.(424-426)tTc>tCc	p.F142S	MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	142	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTCAGGGGGGAAGGCGGCGAA	0.632000													4	235					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118374340	118374340	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:118374340C>T	ENST00000534358.1	+	27	7756	c.7733C>T	c.(7732-7734)cCc>cTc	p.P2578L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2537L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2575L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAACCAAGCCCCAATAATACC	0.473000													11	56					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	ENST00000428554.2	+	13	1930	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263								p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408000													33	56					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413000													5	84					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135956319	135956319	+	Silent	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	ENST00000320676.7	-	9	1312	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Silent_p.G251G	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	386						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483000													4	76					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381621	35381621	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	ENST00000378495.3	+	19	2535	c.2313C>T	c.(2311-2313)gaC>gaT	p.D771D	UNC13B_ENST00000396787.1_Silent_p.D783D|UNC13B_ENST00000378496.4_Silent_p.D771D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	771					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498000													4	112					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								4	15					0	0	1	0	0
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	ENST00000409271.1	-	3	467	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_ENST00000258443.2_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627000													30	87					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	ENST00000342228.3	-	9	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	564					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612000													3	64					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6527130	6527130	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	ENST00000263125.5	-	10	1101	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PRKCQ_ENST00000539722.1_Silent_p.P209P|PRKCQ_ENST00000397176.2_Silent_p.P334P	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	334					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCCCGGTGTCGGTAAACATG	0.443000													6	193					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552000													3	121					0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522000													12	165					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36952337	36952337	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537000													34	54					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	ENST00000264257.2	+	5	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	199	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478000													25	26					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986933	61986933	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	ENST00000409186.1	-	5	3404	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_ENST00000409204.4_Silent_p.N433N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	406	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418000													22	86					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42774042	42774042	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	ENST00000330714.3	+	11	1744	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	520					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517000													21	67					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17743590	17743590	+	Splice_Site	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	ENST00000428389.2	-	29	3692		c.e29+1		UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGGACTTACGCAGGGTACT	0.552000													21	90					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													4	112					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	ENST00000371471.2	-	2	875	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q			O75362	ZN217_HUMAN	zinc finger protein 217	150					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			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)			AAGAATCTTTGTGTGTTCTCA	0.423000													8	158					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887873	97887873	+	Silent	SNP	A	A	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	ENST00000356526.2	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398000													4	87					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21982885	21982885	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	ENST00000381418.4	-	5	3169	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_ENST00000312841.8_Silent_p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	563							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677000													4	6					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39039015	39039015	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	ENST00000355481.4	+	88	12353	c.12222C>T	c.(12220-12222)taC>taT	p.Y4074Y	RYR1_ENST00000360985.3_Silent_p.Y4074Y|RYR1_ENST00000359596.3_Silent_p.Y4079Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGACTACGTAACGGATC	0.552000													34	60					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150911	51150911	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:51150911G>A	ENST00000342995.2	+	1	1145	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCCGGAGCCGTTCCACCCAG	0.637000													17	14					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													5	101					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13825006	13825006	+	Splice_Site	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	ENST00000357447.2	-	6	668	c.299_splice	c.e6-1	p.R100_splice	FRMD4A_ENST00000342409.2_Splice_Site_p.R116_splice|FRMD4A_ENST00000378503.1_Splice_Site_p.R100_splice|FRMD4A_ENST00000358621.4_Splice_Site_p.R85_splice	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTATATAGAACCTGAAAGAGA	0.428000													37	55					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	ENST00000257290.5	+	5	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	250	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	80					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			31	51					0	0	1	0	0
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552000													3	106					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421333	105421333	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	ENST00000333244.5	-	6	731	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582000													3	24					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2039675	2039675	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	ENST00000250896.3	-	14	1579	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591601.1_Silent_p.A445A|MKNK2_ENST00000591142.1_Intron	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	445					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCCGCTGCGCCAGCTTGG	0.692000													3	45					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75601767	75601767	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	ENST00000419840.1	+	0	307				POR_ENST00000394893.1_Silent_p.K75K|POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000475509.1_3'UTR			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGTGGAAAAGATGAAGAAAA	0.537000											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115401230	115401230	+	Silent	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	ENST00000369522.3	+	6	594	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_ENST00000369518.1_Silent_p.K118K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328000													15	59					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	ENST00000356957.3	-	9	1438	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642000													16	25					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	ENST00000405093.3	-	23	3099	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G	MYH6_ENST00000356287.3_Missense_Mutation_p.D1010G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1010					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512000													56	53					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	29					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	ENST00000356130.3	-	1	194	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413000													27	50					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110845	81110845	+	Translation_Start_Site	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	ENST00000228644.3	+	1	155	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	1					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCAGCAGGATGGACGTGATGG	0.642000													28	49					0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	ENST00000223858.4	-	1	193	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RLN1_ENST00000223862.1_Missense_Mutation_p.V23L			P04808	REL1_HUMAN	relaxin 1	23					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517000													6	106					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tct>tc	p.SS413del		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													2	4	---	---	---	---					
SHISA3	152573	broad.mit.edu	37	4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	ENST00000319234.4	+	2	642_645	c.424_427delCAGA	c.(424-429)cafs	p.QT142fs		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	142					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608													10	519	---	---	---	---					
PDGFRA	5156	broad.mit.edu	37	4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	ENST00000257290.5	+	7	1262_1264	c.931_splice	c.e7-1	p.311_splice	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	311					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	92	---	---	---	---					
SLC26A4	5172	broad.mit.edu	37	7	107312689	107312692	+	Splice_Site	DEL	AGTT	AGTT	-	rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	ENST00000265715.3	+	4	635_638	c.415_splice	c.e4+1	p.SV137_splice		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	137			S -> P (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome				14	57	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7191540	7191541	+	RNA	DEL	CA	CA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703																											GGGGTGcacgcacacacacaca	0.530													10	65	---	---	---	---					
PPP1R16A	84988	broad.mit.edu	37	8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	ENST00000292539.4	+	11	2391_2392	c.1474_1475insC	c.(1474-1476)cccfs	p.P492fs	PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.P492fs			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	492						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713													2	4	---	---	---	---					
MGAT2	4247	broad.mit.edu	37	14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	ENST00000305386.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctfs	p.LT411fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	411					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													29	47	---	---	---	---					
RP6-65G23.1	0	broad.mit.edu	37	14	71168464	71168466	+	RNA	DEL	GAG	GAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:71168464_71168466delGAG	ENST00000553682.1	+	0	365																											ggaggaggaagaggaggaggagg	0.586													2	4	---	---	---	---					
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1							nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709													5	7	---	---	---	---					
NCOR1P1	0	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													4	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	ENST00000373344.5	-	9	1451_1452	c.1237_1238delTT	c.(1237-1239)afs	p.L413fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	413					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCGGAATTTAAGTCTTCTTCC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						187	6	---	---	---	---