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
RAB40C	57799	broad.mit.edu	37	16	677517	677517	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr16:677517C>T	ENST00000535977.1	+	7	963	c.741C>T	c.(739-741)gcC>gcT	p.A247A	RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A|RAB40C_ENST00000248139.3_Silent_p.A247A	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	247					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCAGCGGGGCCGGGGGCGGCG	0.642000													4	86					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16956555	16956555	+	RNA	SNP	C	C	T	rs9329440	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:16956555C>T	ENST00000412962.1	-	0	294																											CTCTAGGGCCCGCCGCTCACT	0.607000													7	26					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888474	38888474	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:38888474C>T	ENST00000302328.3	-	26	5285	c.5087G>A	c.(5086-5088)gGc>gAc	p.G1696D	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1696					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCATCAGAGCCACCGAGTAC	0.448000													44	74					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92560208	92560208	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr13:92560208T>C	ENST00000377067.3	+	6	1670	c.1298T>C	c.(1297-1299)gTt>gCt	p.V433A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	433						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGCGTGTGGTTGGAAATGGA	0.383000													3	47					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284200	86284200	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:86284200T>C	ENST00000376395.4	-	7	1671	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	383					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAGTTATTTGTTGCAACAA	0.378000													9	26					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097663	167097663	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:167097663G>A	ENST00000361200.2	+	6	3461	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1099					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G1099*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAAGAAGAGGGAGAGAAAGA	0.498000													4	14					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493000													14	29					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168484	64168484	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:64168484T>C	ENST00000395391.1	+	4	3177	c.1802T>C	c.(1801-1803)aTt>aCt	p.I601T	ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAGATAATTTATACTGGA	0.328000													27	30					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179998424	179998424	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:179998424G>A	ENST00000393356.1	+	13	1877	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	485					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTACACATTTGATTTCAAGGT	0.413000													23	37					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409341	1409341	+	Silent	SNP	C	C	T	rs140515543		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:1409341C>T	ENST00000381524.3	+	7	771	c.585C>T	c.(583-585)aaC>aaT	p.N195N	CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000355805.2_Silent_p.N195N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000355432.3_Silent_p.N195N|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	195						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTGGTTAACGGAACCAGCC	0.398000													108	212					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	45					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7067952	7067952	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:7067952C>A	ENST00000299481.4	+	5	2358	c.2012C>A	c.(2011-2013)aCa>aAa	p.T671K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	671					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGCTTCATACAAATGAACAC	0.368000													26	114					9.86323e-18	1.02658e-17	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2967440	2967440	+	Silent	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:2967440G>A	ENST00000397461.1	+	12	1719	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000418658.1_Silent_p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343000													4	76					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959375	75959375	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:75959375T>C	ENST00000307630.3	-	2	485	c.263A>G	c.(262-264)aAg>aGg	p.K88R		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	88					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTCTCTATCTTCTCCCGGTA	0.532000													54	88					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82336786	82336786	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:82336786C>T	ENST00000376520.4	+	18	2893	c.2065C>T	c.(2065-2067)Cac>Tac	p.H689Y	TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y|TLE4_ENST00000376552.2_Missense_Mutation_p.H657Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCAGCAGCACGACTTCAC	0.557000													9	36					0	0	1	0	0
DEFB113	245927	broad.mit.edu	37	6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium	extracellular region		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403000													3	38					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72290400	72290400	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:72290400G>A	ENST00000334456.5	-	27	2529	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W|PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	762	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGATGTCCCGCATCAGATCC	0.607000													3	40					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								19	47					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	77984443	77984443	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:77984443T>C	ENST00000216484.2	-	11	1700	c.1507A>G	c.(1507-1509)Att>Gtt	p.I503V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	503						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACTCAATAATTGGGGTGGCA	0.463000													25	41					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489680	74489680	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:74489680T>C	ENST00000333421.6	-	2	428	c.317A>G	c.(316-318)cAa>cGa	p.Q106R	ABHD17B_ENST00000377041.2_Missense_Mutation_p.Q106R	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		GCTGCTCATTTGACCAAGATC	0.393000													34	44					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228451927	228451927	+	Missense_Mutation	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:228451927A>C	ENST00000570156.2	+	18	5322	c.5248A>C	c.(5248-5250)Acg>Ccg	p.T1750P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1566P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	738	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGAGGTGACGTGGTACAA	0.662000													4	85					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578538T>C	ENST00000420246.2	-	5	524	c.392A>G	c.(391-393)aAc>aGc	p.N131S	TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000413465.2_Missense_Mutation_p.N131S|TP53_ENST00000269305.4_Missense_Mutation_p.N131S|TP53_ENST00000445888.2_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)		AAACATCTTGTTGAGGGCAGG	0.557000		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)			13	21					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219028901	219028901	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:219028901T>C	ENST00000295683.2	-	2	1154	c.1034A>G	c.(1033-1035)aAt>aGt	p.N345S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	345					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGAAGAGACATTGACAGACGA	0.478000													16	25					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62535627	62535627	+	RNA	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:62535627G>A	ENST00000408214.1	-	0	20																											TCCCCCTGCCGTGCCCTGACC	0.587000													4	9					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512673	68512673	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:68512673C>T	ENST00000370981.1	-	4	944	c.308G>A	c.(307-309)cGc>cAc	p.R103H	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577000													58	93					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820584	159820584	+	RNA	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:159820584C>T	ENST00000497452.1	-	0	517																											GTTGAGGCTGCCTGGTATTTG	0.333000													16	25					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1788945	1788945	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:1788945C>T	ENST00000539485.1	-	24	3283	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1007N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1007					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CACCATCATGCTGGCCATGCT	0.632000													3	14					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557199	40557199	+	Missense_Mutation	SNP	G	G	A	rs145869708		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:40557199G>A	ENST00000357037.5	-	2	1098	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	227					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCACGCGCCGCAGGCCGCTG	0.622000													4	105					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221296	1221296	+	Silent	SNP	C	C	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:1221296C>A	ENST00000304460.10	+	11	1625	c.1569C>A	c.(1567-1569)ggC>ggA	p.G523G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	523					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATGATCGGCCACAAGCCCA	0.542000													3	31					1	1	1	1	0
APC	324	broad.mit.edu	37	5	112176256	112176256	+	Silent	SNP	A	A	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:112176256A>C	ENST00000457016.1	+	16	5345	c.4965A>C	c.(4963-4965)acA>acC	p.T1655T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T|APC_ENST00000508376.2_Silent_p.T1655T			P25054	APC_HUMAN	adenomatous polyposis coli	1655	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACAGCTACATCTCTAAGTG	0.448000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			28	31					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887677	12887677	+	Silent	SNP	A	A	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463000													4	215					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276099	186276099	+	Silent	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:186276099C>T	ENST00000445192.2	+	7	1293	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367485.4_Silent_p.T323T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	416	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCACCAAGGAGC	0.657000													3	70					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63967167	63967167	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:63967167C>T	ENST00000443617.2	-	38	7307	c.7220G>A	c.(7219-7221)gGc>gAc	p.G2407D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2407					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGTTTGCCCATGTCTTC	0.502000													45	97					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264000													6	135					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592000													14	17					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156262835	156262835	+	Silent	SNP	T	T	C			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:156262835T>C	ENST00000362007.1	-	6	1247	c.1221A>G	c.(1219-1221)taA>taG	p.*407*	C1orf85_ENST00000482579.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	0					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGAGCGGGCCTTAATTTATGG	0.582000													34	52					0	0	1	0	0
PIFO	128344	broad.mit.edu	37	1	111891191	111891191	+	Silent	SNP	A	A	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:111891191A>G	ENST00000369738.4	+	4	677	c.312A>G	c.(310-312)aaA>aaG	p.K104K	PIFO_ENST00000369737.4_Silent_p.K71K|PIFO_ENST00000484512.1_3'UTR	NM_181643.4	NP_857594.2			primary cilia formation																		AGCAGGAAAAACACAAACAAA	0.398000													14	260					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102647464	102647464	+	Silent	SNP	G	G	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:102647464G>T	ENST00000279441.4	-	5	702	c.666C>A	c.(664-666)tcC>tcA	p.S222S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	222					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGAGCCCCAGGGAGTGGCCAA	0.453000													17	40					6.94344e-10	7.08231e-10	1	1	0
STEAP2	261729	broad.mit.edu	37	7	89856666	89856666	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:89856666C>G	ENST00000287908.3	+	3	1267	c.874C>G	c.(874-876)Cca>Gca	p.P292A	STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	292	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TAGGAGATTTCCACCTTGGTT	0.438000													5	166					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729690	37729690	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr8:37729690G>A	ENST00000330843.4	-	4	2642	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	877					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGGCTGGCGCACCACACGT	0.617000													5	36					0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197670672	197670672	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:197670672C>T	ENST00000265239.6	-	4	683	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	87										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCTCCCTTCGTACTGAACG	0.453000													30	52					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9015351	9015351	+	Missense_Mutation	SNP	G	G	A	rs150789116	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:9015351G>A	ENST00000397910.4	-	30	38440	c.38237C>T	c.(38236-38238)cCt>cTt	p.P12746L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12748	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGTACAGAGGGCCAACACT	0.512000													3	59					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507000													8	20					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													4	5	---	---	---	---					
PPP2R2D	55844	broad.mit.edu	37	10	133758825	133758825	+	Translation_Start_Site	DEL	A	A	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr10:133758825delA	ENST00000422256.2	+	0	486				PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GCCTGCTAACATGGAGGAGCT	0.527													37	45	---	---	---	---					
AP5B1	91056	broad.mit.edu	37	11	65546069	65546069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:65546069delC	ENST00000532090.2	-	2	2105	c.1895delG	c.(1894-1896)ggcfs	p.G632fs		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	575							protein binding			lung(1)	1						AAGCGAGGGGCCCAGGGCCAC	0.677													2	4	---	---	---	---					
NOVA1	4857	broad.mit.edu	37	14	26917177	26917178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:26917177_26917178insG	ENST00000539517.2	-	5	1828_1829	c.1511_1512insC	c.(1510-1512)cagfs	p.Q504fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	507					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AACCCACTTTCTGAGGATTGGC	0.431													19	43	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						72	23	---	---	---	---					
