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
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	28					0	0	0.004672	0	0
ITPR1	3708	broad.mit.edu	37	3	4725969	4725969	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:4725969G>A	ENST00000302640.8	+	28	3808	c.3458G>A	c.(3457-3459)gGa>gAa	p.G1153E	ITPR1_ENST00000456211.2_Missense_Mutation_p.G1144E|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1159E|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1153E|ITPR1_ENST00000357086.4_Missense_Mutation_p.G1159E|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1168E|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1168					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCTAGGAGGGAAATAACAAG	0.433000													3	14					0	0	0.001168	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161909	1161909	+	Silent	SNP	C	C	T	rs139413230		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:1161909C>T	ENST00000381894.3	-	2	1025	c.354G>A	c.(352-354)ccG>ccA	p.P118P		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	118						integral to membrane	protein binding										CATAATCCACCGGGCGGCTCA	0.627000													22	94					0	0	0.010504	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905790	132905790	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:132905790C>G	ENST00000409867.1	-	6	940	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGTGTTCCTTCAGATGTTCCT	0.443000													6	24					0	0	0.001984	0	0
PER3	8863	broad.mit.edu	37	1	7902814	7902814	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:7902814G>C	ENST00000377532.3	+	21	3856	c.3632G>C	c.(3631-3633)tGa>tCa	p.*1211S	PER3_ENST00000361923.2_Nonstop_Mutation_p.*1202S			P56645	PER3_HUMAN	period circadian clock 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGCTGTTGAGTGACTGTG	0.438000													24	77					0	0	0.021523	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205098	23205098	+	RNA	SNP	G	G	A	rs146035894	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr15:23205098G>A	ENST00000400153.2	-	0	756					NR_003521.1																						CTGGAAGAACGTGGTTGCCAC	0.373000													4	30					0	0	0.009096	0	0
CACNA1F	778	broad.mit.edu	37	X	49089767	49089767	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:49089767G>A	ENST00000376265.2	-	1	66	c.5C>T	c.(4-6)tCg>tTg	p.S2L	CACNA1F_ENST00000376251.1_Missense_Mutation_p.S2L|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S2L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	2					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCAGATTCCGACATCTTTCT	0.577000													23	13					0	0	0.006320	0	0
ASIC1	41	broad.mit.edu	37	12	50475373	50475373	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:50475373G>A	ENST00000228468.4	+	12	2051	c.1666G>A	c.(1666-1668)Gct>Act	p.A556T	ASIC1_ENST00000552438.1_Missense_Mutation_p.A544T|ASIC1_ENST00000447966.2_Missense_Mutation_p.A510T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	510					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GATGACATACGCTGCCAACAT	0.642000													5	48					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113241072	113241072	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:113241072G>T	ENST00000297405.5	-	70	11121	c.10877C>A	c.(10876-10878)aCa>aAa	p.T3626K	CSMD3_ENST00000343508.3_Missense_Mutation_p.T3586K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3457K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3556K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3626						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTACTATTTGTACCATGAGG	0.279000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	75					3.73194e-20	4.15956e-20	0.010504	1	0
CAP1	10487	broad.mit.edu	37	1	40530008	40530008	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:40530008G>A	ENST00000372797.3	+	5	965	c.404G>A	c.(403-405)aGc>aAc	p.S135N	CAP1_ENST00000340450.3_Missense_Mutation_p.S134N|CAP1_ENST00000372798.1_Missense_Mutation_p.S134N|CAP1_ENST00000372792.2_Missense_Mutation_p.S135N|CAP1_ENST00000372805.3_Missense_Mutation_p.S135N|CAP1_ENST00000372802.1_Missense_Mutation_p.S134N	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	135					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	p.S135N(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGCTGTCAGCGAAAGTATC	0.512000													4	116					0	0	0.009096	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000455263.2_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000413465.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562000		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	29					0	0	0.003163	0	0
SORCS3	22986	broad.mit.edu	37	10	106907398	106907398	+	Silent	SNP	C	C	T	rs147429425	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:106907398C>T	ENST00000369701.3	+	9	1553	c.1326C>T	c.(1324-1326)gaC>gaT	p.D442D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	442						integral to membrane	neuropeptide receptor activity	p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGTACAGACGAGAACCAAG	0.473000													19	58					0	0	0.008871	0	0
CASP8	841	broad.mit.edu	37	2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:202131411C>T	ENST00000358485.4	+	2	575	c.379C>T	c.(379-381)Cga>Tga	p.R127*	CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453000										HNSCC(4;0.00038)			16	49					0	0	0.003163	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941278	13941278	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:13941278C>T	ENST00000254323.2	+	13	2573	c.2384C>T	c.(2383-2385)gCg>gTg	p.A795V	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.A629V	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	795							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTGCTGGACGCGGCGGCCGGC	0.697000													64	81					0	0	0.014410	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736856	12736856	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chrX:12736856T>G	ENST00000380682.1	+	16	4417	c.3911T>G	c.(3910-3912)tTt>tGt	p.F1304C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1304					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACCCCTGTTTGGCACATTG	0.507000													72	67					0	0	0.014410	0	0
GPR155	151556	broad.mit.edu	37	2	175301127	175301127	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:175301127G>A	ENST00000392552.2	-	16	2568	c.2330C>T	c.(2329-2331)tCt>tTt	p.S777F	GPR155_ENST00000392551.2_Missense_Mutation_p.S777F|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.S777F	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	777	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AGTTCCAGCAGAAGTCTTTGC	0.473000													33	62					0	0	0.012213	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2																						ACCAGCGGCTTGTAGTACACA	0.627000													3	67					0	0	0.004672	0	0
OASL	8638	broad.mit.edu	37	12	121465598	121465598	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:121465598C>T	ENST00000257570.5	-	4	950	c.680G>A	c.(679-681)aGa>aAa	p.R227K	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	227					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGATTGGCTCTGGGGGACCT	0.488000													25	39					0	0	0.006320	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702779	27702779	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:27702779A>C	ENST00000438700.3	-	1	518	c.401T>G	c.(400-402)gTg>gGg	p.V134G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	134					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GTGCGCGCCCACCTGCCACCC	0.672000													5	32					0	0	0.004482	0	0
COL6A1	1291	broad.mit.edu	37	21	47409674	47409674	+	Silent	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637000													3	115					0	0	0.014758	0	0
CEP72	55722	broad.mit.edu	37	5	637680	637680	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:637680C>G	ENST00000264935.5	+	7	1043	c.953C>G	c.(952-954)tCa>tGa	p.S318*	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	318					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TTGGATTTGTCAGGAGAAATG	0.552000													15	108					0	0	0.004007	0	0
WDR18	57418	broad.mit.edu	37	19	989771	989771	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:989771G>A	ENST00000251289.5	+	3	354	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	WDR18_ENST00000587001.2_Missense_Mutation_p.G111R|WDR18_ENST00000591997.1_3'UTR	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	111								p.G111W(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		GGTCTCCACCGGGAACCTTCT	0.632000													18	79					0	0	0.008871	0	0
BEST3	144453	broad.mit.edu	37	12	70049468	70049468	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:70049468C>G	ENST00000330891.5	-	10	1452	c.1226G>C	c.(1225-1227)aGa>aCa	p.R409T	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R303T|BEST3_ENST00000488961.1_Missense_Mutation_p.R196T	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	409						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GCTTCTTCTTCTGGGGCTGGA	0.552000													65	102					0	0	0.014410	0	0
CSMD1	64478	broad.mit.edu	37	8	3565950	3565950	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr8:3565950T>C	ENST00000520002.1	-	7	1550	c.995A>G	c.(994-996)cAt>cGt	p.H332R	CSMD1_ENST00000602723.1_Missense_Mutation_p.H332R|CSMD1_ENST00000400186.3_Missense_Mutation_p.H332R|CSMD1_ENST00000602557.1_Missense_Mutation_p.H332R|CSMD1_ENST00000542608.1_Missense_Mutation_p.H332R|CSMD1_ENST00000539096.1_Missense_Mutation_p.H332R|CSMD1_ENST00000537824.1_Missense_Mutation_p.H332R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	332						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGAGTTTTTATGGCTTCCATC	0.463000													18	32					0	0	0.008871	0	0
BTNL8	79908	broad.mit.edu	37	5	180335650	180335650	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:180335650C>A	ENST00000231229.4	+	2	348	c.114C>A	c.(112-114)ttC>ttA	p.F38L	BTNL8_ENST00000340184.4_Missense_Mutation_p.F38L|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.F38L|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	38	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGCAGCATTCTCCTGTTTCC	0.552000													37	70					2.47872e-24	2.82153e-24	0.010771	1	0
TNRC6B	23112	broad.mit.edu	37	22	40669448	40669448	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:40669448C>T	ENST00000454349.2	+	7	3196	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	TNRC6B_ENST00000335727.8_Silent_p.D942D|TNRC6B_ENST00000301923.9_Silent_p.D248D|TNRC6B_ENST00000402203.1_Silent_p.D248D	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	995					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTATGCAAGACGGCTGGGGGG	0.483000													5	6					0	0	0.014758	0	0
LRRFIP2	9209	broad.mit.edu	37	3	37095356	37095356	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:37095356G>C	ENST00000421307.1	-	29	2574	c.2152C>G	c.(2152-2154)Ctg>Gtg	p.L718V	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.L421V|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.L397V|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.L500V|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.L718V|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.L421V	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	718					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCTGGGCCAGAAGTGCTGTC	0.532000													36	77					0	0	0.019004	0	0
SPATA2	9825	broad.mit.edu	37	20	48524766	48524766	+	Missense_Mutation	SNP	C	C	A	rs150565930		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:48524766C>A	ENST00000422556.1	-	2	611	c.262G>T	c.(262-264)Gcc>Tcc	p.A88S	SPATA2_ENST00000543716.1_Intron|SPATA2_ENST00000289431.5_Missense_Mutation_p.A88S	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	88					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ATGCTGAAGGCGCCGTGCAGA	0.577000													46	98					3.21987e-24	3.62659e-24	0.014410	1	0
FAM24A	118670	broad.mit.edu	37	10	124671218	124671218	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:124671218C>T	ENST00000368894.1	+	2	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	23						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CTGGTTGCCGCGATGGTGCTC	0.473000													6	427					0	0	0.004482	0	0
LOC645752	645752	broad.mit.edu	37	15	78211241	78211241	+	RNA	SNP	T	T	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr15:78211241T>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TCCCACAGCCTCTTTTCCTGC	0.572000													101	260					0	0	0.014410	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885987	70885987	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:70885987G>T	ENST00000333538.5	+	5	1492	c.858G>T	c.(856-858)caG>caT	p.Q286H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	286						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGAGGTGCAGCGGTACGAGA	0.582000													37	133					1.90571e-15	2.08072e-15	0.019004	1	0
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:37919970C>T	ENST00000377707.3	-	6	1943	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	460	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502000													4	92					0	0	0.009096	0	0
MED12L	116931	broad.mit.edu	37	3	151082800	151082800	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:151082800T>C	ENST00000474524.1	+	20	2924	c.2886T>C	c.(2884-2886)taT>taC	p.Y962Y	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Silent_p.Y822Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	962					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAACCATATATAATAACGTGA	0.353000													68	246					0	0	0.014410	0	0
KIF4B	285643	broad.mit.edu	37	5	154394891	154394891	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:154394891C>T	ENST00000435029.4	+	1	1632	c.1472C>T	c.(1471-1473)gCg>gTg	p.A491V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	491					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTGATACTGCGGTAGAAGAA	0.443000													16	114					0	0	0.006122	0	0
TAAR2	9287	broad.mit.edu	37	6	132938773	132938773	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:132938773T>G	ENST00000275191.2	-	1	544	c.437A>C	c.(436-438)tAt>tCt	p.Y146S	TAAR2_ENST00000537809.1_Missense_Mutation_p.Y146S|TAAR2_ENST00000367931.1_Missense_Mutation_p.Y191S	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	191						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAAGATGTCATAGCCCTCTAT	0.493000													8	80					0	0	0.004482	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121981961	121981961	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:121981961C>T	ENST00000263707.5	-	15	1493	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	466					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E466Q(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCATTGCTCTCAGCTGCAAGA	0.517000													17	32					0	0	0.006122	0	0
OR2M4	26245	broad.mit.edu	37	1	248402849	248402849	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:248402849C>T	ENST00000306687.1	+	1	619	c.619C>T	c.(619-621)Cta>Tta	p.L207L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGGTAATGCTAATCTTTCC	0.433000													12	78					0	0	0.013537	0	0
DHX29	54505	broad.mit.edu	37	5	54603304	54603304	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:54603304G>A	ENST00000251636.5	-	1	246	c.98C>T	c.(97-99)gCc>gTc	p.A33V		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	33	Ala-rich.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GGCCTCCCCGGCAATTCCAGC	0.662000													41	157					0	0	0.010771	0	0
ATXN2	6311	broad.mit.edu	37	12	111895024	111895024	+	Silent	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:111895024A>G	ENST00000377617.3	-	22	3671	c.3510T>C	c.(3508-3510)ccT>ccC	p.P1170P	ATXN2_ENST00000542287.2_Silent_p.P905P|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000535949.1_Silent_p.P863P|ATXN2_ENST00000389153.4_Silent_p.P907P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1170					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACCTGAACAGGACTGGGTG	0.537000													3	40					0	0	0.004672	0	0
EPHA2	1969	broad.mit.edu	37	1	16462185	16462185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:16462185G>A	ENST00000358432.5	-	6	1547	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	465	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TTCCACACTCGGCTCTGCTGC	0.662000													35	36					0	0	0.014410	0	0
DCT	1638	broad.mit.edu	37	13	95112446	95112446	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr13:95112446T>C	ENST00000377028.5	-	6	1491	c.1078A>G	c.(1078-1080)Act>Gct	p.T360A	DCT_ENST00000446125.1_Missense_Mutation_p.T360A	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	360					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GAATCCAGAGTCCCATCTGCT	0.408000													8	26					0	0	0.006214	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395333	89395333	+	RNA	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348000													5	73					0	0	0.010729	0	0
PCLO	27445	broad.mit.edu	37	7	82785646	82785646	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:82785646C>T	ENST00000423517.2	-	2	648	c.311G>A	c.(310-312)cGt>cAt	p.R104H	PCLO_ENST00000333891.8_Missense_Mutation_p.R104H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	104					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGGACGCCCAGGGTC	0.428000													9	43					0	0	0.006214	0	0
PTPRM	5797	broad.mit.edu	37	18	7926657	7926657	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr18:7926657G>A	ENST00000332175.8	+	5	1676	c.639G>A	c.(637-639)gtG>gtA	p.V213V	PTPRM_ENST00000400053.4_Silent_p.V151V|PTPRM_ENST00000400060.4_Silent_p.V213V|PTPRM_ENST00000580170.1_Silent_p.V213V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	213	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGGACCGTGGCAGGAGACA	0.522000													9	97					0	0	0.004482	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912935	145912935	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:145912935C>T	ENST00000354952.2	-	8	1161	c.921G>A	c.(919-921)atG>atA	p.M307I	PLSCR4_ENST00000433593.2_Missense_Mutation_p.M202I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M307I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M307I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M217I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	307					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CTCCAAAAATCATGGCTTTCA	0.398000													6	49					0	0	0.001168	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879889	39879889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:39879889G>A	ENST00000530275.1	+	1	3739	c.3544G>A	c.(3544-3546)Gtg>Atg	p.V1182M	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1182	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACCCCAGAGGTGCCTGCCAT	0.627000													6	37					0	0	0.001984	0	0
RREB1	6239	broad.mit.edu	37	6	7230732	7230732	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr6:7230732G>A	ENST00000379938.2	+	10	2937	c.2400G>A	c.(2398-2400)gcG>gcA	p.A800A	RREB1_ENST00000349384.6_Silent_p.A800A|RREB1_ENST00000334984.6_Silent_p.A800A|RREB1_ENST00000379933.3_Silent_p.A800A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	800					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGCGTTCGCGGCCAAGCGCA	0.711000													4	19					0	0	0.014758	0	0
HOXD13	3239	broad.mit.edu	37	2	176958165	176958165	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:176958165G>T	ENST00000392539.3	+	1	547	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	183					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGCCAACGAGGTGCCAGCGCG	0.627000			T	NUP98	AML*								12	53					0.00010058	0.00010551	0.013537	1	0
SON	6651	broad.mit.edu	37	21	34922496	34922496	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:34922496C>G	ENST00000356577.4	+	3	1434	c.959C>G	c.(958-960)cCa>cGa	p.P320R	SON_ENST00000381679.4_Missense_Mutation_p.P320R|SON_ENST00000300278.4_Missense_Mutation_p.P320R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P320R	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	320					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TACCCTGAGCCAAGCACATCA	0.468000											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	104					0	0	0.013537	0	0
SGIP1	84251	broad.mit.edu	37	1	67105475	67105475	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:67105475G>A	ENST00000371037.4	+	5	264	c.187G>A	c.(187-189)Gca>Aca	p.A63T	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Missense_Mutation_p.A38T|SGIP1_ENST00000371039.1_Missense_Mutation_p.A39T|SGIP1_ENST00000237247.6_Missense_Mutation_p.A67T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	63					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGCAATGGGGCACCAAATGG	0.289000													14	53					0	0	0.020292	0	0
VN1R2	317701	broad.mit.edu	37	19	53762720	53762720	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:53762720T>C	ENST00000341702.3	+	1	1176	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	364					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.P364P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CTATTAGCCCTTTTGTTCTCA	0.433000													4	171					0	0	0.009096	0	0
ZNF197	10168	broad.mit.edu	37	3	44673621	44673621	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:44673621C>T	ENST00000396058.1	+	3	742	c.575C>T	c.(574-576)gCc>gTc	p.A192V	ZNF197_ENST00000383744.4_Missense_Mutation_p.A192V|ZNF197_ENST00000344387.4_Missense_Mutation_p.A192V|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Missense_Mutation_p.A192V			O14709	ZN197_HUMAN	zinc finger protein 197	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAGCTTCTGCCCTTTCCCAG	0.498000													5	424					0	0	0.001984	0	0
NPAS3	64067	broad.mit.edu	37	14	34269100	34269100	+	Silent	SNP	C	C	T	rs148867285		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:34269100C>T	ENST00000346562.2	+	11	1565	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	NPAS3_ENST00000356141.4_Silent_p.D529D|NPAS3_ENST00000548645.1_Silent_p.D499D|NPAS3_ENST00000551492.1_Silent_p.D534D|NPAS3_ENST00000357798.5_Silent_p.D516D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCGACAGCGACGACAGCTTCG	0.637000													27	43					0	0	0.009535	0	0
SFI1	9814	broad.mit.edu	37	22	31979944	31979944	+	Silent	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:31979944C>G	ENST00000432498.1	+	12	1632	c.1239C>G	c.(1237-1239)gcC>gcG	p.A413A	SFI1_ENST00000540643.1_Silent_p.A389A|SFI1_ENST00000414585.1_Silent_p.A291A|SFI1_ENST00000400288.2_Silent_p.A444A|SFI1_ENST00000400289.1_Silent_p.A362A|SFI1_ENST00000443011.1_Silent_p.A291A|SFI1_ENST00000443326.1_Silent_p.A362A	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	444					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGCATGCTGCCTGGGACCACT	0.517000													62	123					0	0	0.014410	0	0
YARS	8565	broad.mit.edu	37	1	33276553	33276553	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:33276553G>A	ENST00000373477.4	-	2	1071	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	55					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.P55S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTTGACATGGGCACAAAGTAA	0.488000													5	424					0	0	0.001168	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284502	43284502	+	RNA	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:43284502C>T	ENST00000511537.1	-	0	433					NR_033868.1																						ATGAGGACAGCATTCCCGGAA	0.408000													12	12					0	0	0.020292	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696022	222696022	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222696022C>T	ENST00000343410.6	-	9	2154	c.2096G>A	c.(2095-2097)aGg>aAg	p.R699K	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	699					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTCTTCCTCCTCTTGCCCTG	0.567000													103	269					0	0	0.014410	0	0
FAM3B	54097	broad.mit.edu	37	21	42710379	42710379	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr21:42710379A>G	ENST00000398652.3	+	4	421	c.355A>G	c.(355-357)Agc>Ggc	p.S119G	FAM3B_ENST00000398647.3_Missense_Mutation_p.S32G|FAM3B_ENST00000398646.3_Missense_Mutation_p.S103G|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.S80G			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	80					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGGTTACTCAGCGGAGGTGG	0.458000													4	123					0	0	0.009096	0	0
GPR162	27239	broad.mit.edu	37	12	6935885	6935885	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr12:6935885C>T	ENST00000311268.3	+	5	2070	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	GPR162_ENST00000428545.2_Missense_Mutation_p.S144F|GPR162_ENST00000382315.3_Missense_Mutation_p.S124F	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	428						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GAACCAGGCTCCTTCCTGCAC	0.612000													86	143					0	0	0.014410	0	0
KIAA1524	57650	broad.mit.edu	37	3	108288376	108288376	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:108288376G>T	ENST00000295746.8	-	9	1049	c.973C>A	c.(973-975)Cca>Aca	p.P325T	KIAA1524_ENST00000491772.1_Missense_Mutation_p.P166T|KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	325						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCAGGTGGAGACTGTTCA	0.458000													6	25					1.06961e-07	1.14449e-07	0.003080	1	0
IGHG3	3502	broad.mit.edu	37	14	106237563	106237563	+	RNA	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:106237563C>G	ENST00000390551.2	-	0	179																											GAGTAGAGTCCTGAGGACTGT	0.617000													13	99					0	0	0.016723	0	0
BCKDHA	593	broad.mit.edu	37	19	41920002	41920002	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:41920002G>A	ENST00000269980.2	+	4	792	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	BCKDHA_ENST00000457836.2_Missense_Mutation_p.V120M|BCKDHA_ENST00000595085.1_Missense_Mutation_p.V176M|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.V176M	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	142					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GGGCACGCACGTGGGGAGTGC	0.617000													16	83					0	0	0.008871	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													5	56					0	0	0.013537	0	0
NTRK1	4914	broad.mit.edu	37	1	156845368	156845368	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:156845368T>C	ENST00000368196.3	+	11	1513	c.1393T>C	c.(1393-1395)Ttg>Ctg	p.L465L	NTRK1_ENST00000524377.1_Silent_p.L471L|NTRK1_ENST00000392302.2_Silent_p.L435L|NTRK1_ENST00000358660.3_Silent_p.L465L	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	471					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TTTCATGACATTGGGTGGCAG	0.607000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			15	78					0	0	0.004007	0	0
ZNF507	22847	broad.mit.edu	37	19	32844652	32844652	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:32844652G>A	ENST00000311921.3	+	2	1108	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000355898.5_Missense_Mutation_p.V306I|ZNF507_ENST00000544431.1_Missense_Mutation_p.V306I	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CGATGCAGTCGTCATTGCTAT	0.478000													19	177					0	0	0.016522	0	0
ENPEP	2028	broad.mit.edu	37	4	111441470	111441470	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr4:111441470C>T	ENST00000265162.5	+	10	2017	c.1675C>T	c.(1675-1677)Cgc>Tgc	p.R559C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	559					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACACAGAAACGCTTTTTGTT	0.448000													34	30					0	0	0.019004	0	0
OR13C8	138802	broad.mit.edu	37	9	107332319	107332319	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:107332319C>A	ENST00000335040.1	+	1	871	c.871C>A	c.(871-873)Ctt>Att	p.L291I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GACTCCCATGCTTAATCCTCT	0.408000													20	68					8.04996e-18	8.87985e-18	0.012319	1	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													4	32					0	0	0.009096	0	0
ABCA13	154664	broad.mit.edu	37	7	48314202	48314202	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr7:48314202C>T	ENST00000435803.1	+	17	4963	c.4939C>T	c.(4939-4941)Cat>Tat	p.H1647Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1647					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTGTAGTTCATCACACTAG	0.373000													60	137					0	0	0.014410	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	76					0	0	0.003080	0	0
VAX1	11023	broad.mit.edu	37	10	118896029	118896029	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:118896029C>T	ENST00000277905.2	-	2	627	c.383G>A	c.(382-384)cGc>cAc	p.R128H	VAX1_ENST00000369206.5_Missense_Mutation_p.R128H	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667000													15	40					0	0	0.007413	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588458	20588458	+	RNA	SNP	G	G	C	rs2291971	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr15:20588458G>C	ENST00000428453.1	-	0	4292																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTGGCCATGACTGCAGTGC	0.458000													6	16					0	0	0.001168	0	0
ZNF426	79088	broad.mit.edu	37	19	9643595	9643595	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:9643595T>A	ENST00000593003.1	-	4	614	c.137A>T	c.(136-138)cAg>cTg	p.Q46L	ZNF426_ENST00000589289.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000535489.1_Missense_Mutation_p.Q84L|ZNF426_ENST00000253115.2_Missense_Mutation_p.Q84L			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTTGATGATCTGACCTCCTGA	0.413000													24	119					0	0	0.021523	0	0
ZNF454	285676	broad.mit.edu	37	5	178369801	178369801	+	Silent	SNP	C	C	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr5:178369801C>A	ENST00000320129.3	+	2	312	c.9C>A	c.(7-9)gtC>gtA	p.V3V	ZNF454_ENST00000519564.1_Silent_p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAATGGCTGTCAGCCACCTGC	0.537000													7	65					5.18039e-06	5.48814e-06	0.003080	1	0
PSME4	23198	broad.mit.edu	37	2	54120868	54120868	+	Silent	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:54120868T>C	ENST00000404125.1	-	35	4036	c.3981A>G	c.(3979-3981)tcA>tcG	p.S1327S	PSME4_ENST00000421748.2_Silent_p.S471S	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1327					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCTTCTAATGATAGAAAAG	0.289000													8	30					0	0	0.003080	0	0
ATP2A3	489	broad.mit.edu	37	17	3851149	3851149	+	Splice_Site	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:3851149C>T	ENST00000309890.7	-	8	781	c.630_splice	c.e8-1	p.G211_splice	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000352011.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397043.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397041.3_Splice_Site_p.G211_splice|ATP2A3_ENST00000397035.3_Splice_Site_p.G211_splice	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	211					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATATTGGTGCCCTGGCCAGGG	0.637000													6	36					0	0	0.003080	0	0
HELLS	3070	broad.mit.edu	37	10	96336456	96336456	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:96336456G>A	ENST00000348459.5	+	10	1031	c.926G>A	c.(925-927)cGt>cAt	p.R309H	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.R309H|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.R309H|HELLS_ENST00000371332.4_Missense_Mutation_p.R309H	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	309	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CAGGAGGAACGTCAAAAATTG	0.333000													5	38					0	0	0.001168	0	0
IDH1	3417	broad.mit.edu	37	2	209108281	209108281	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr2:209108281C>T	ENST00000415913.1	-	6	949	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	IDH1_ENST00000446179.1_Missense_Mutation_p.E190K|IDH1_ENST00000345146.2_Missense_Mutation_p.E190K			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	190					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			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)		GCAAAATCTTCAATTGACTTA	0.408000			Mis		gliobastoma								28	40					0	0	0.007291	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			24	8					0	0	0.007291	0	0
TRAF3	7187	broad.mit.edu	37	14	103357700	103357700	+	Silent	SNP	C	C	T			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:103357700C>T	ENST00000560371.1	+	8	982	c.765C>T	c.(763-765)tcC>tcT	p.S255S	TRAF3_ENST00000347662.4_Silent_p.S230S|TRAF3_ENST00000392745.2_Silent_p.S255S|TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000351691.5_Silent_p.S230S	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	255					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGGCCAGCTCCGCCGTGCAGC	0.557000													7	35					0	0	0.001984	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	2					0	0	0.004672	0	0
CCAR1	55749	broad.mit.edu	37	10	70525798	70525798	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:70525798G>C	ENST00000265872.6	+	17	2379	c.2260G>C	c.(2260-2262)Gac>Cac	p.D754H	CCAR1_ENST00000543719.1_Missense_Mutation_p.D739H|CCAR1_ENST00000535016.1_Missense_Mutation_p.D739H	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	754	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGTCCTATTGGACTACAGATT	0.338000													19	53					0	0	0.010504	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721186	222721186	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:222721186G>A	ENST00000343410.6	-	1	259	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	67					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CACAGCAGCCGAAGGACTCAT	0.567000													23	40					0	0	0.021523	0	0
NLRP2	55655	broad.mit.edu	37	19	55489152	55489152	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:55489152G>A	ENST00000543010.1	+	4	501	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	NLRP2_ENST00000339757.7_Missense_Mutation_p.V120M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V120M|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000427260.2_Missense_Mutation_p.V97M|NLRP2_ENST00000538819.1_Intron|NLRP2_ENST00000537859.1_Missense_Mutation_p.V120M|NLRP2_ENST00000448584.2_Missense_Mutation_p.V120M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	120					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V120M(1)		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)		ACCTCTAGACGTGGACGAAAT	0.542000													31	62					0	0	0.017118	0	0
PAPLN	89932	broad.mit.edu	37	14	73721248	73721248	+	Missense_Mutation	SNP	C	C	T	rs143213374		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr14:73721248C>T	ENST00000427855.1	+	13	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	PAPLN_ENST00000555445.1_Missense_Mutation_p.R444W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R444W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R444W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R417W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	444	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTTGGCGTCCGGAAGCGGAG	0.622000													58	211					0	0	0.014410	0	0
CTBP2	1488	broad.mit.edu	37	10	126678151	126678151	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr10:126678151T>C	ENST00000309035.6	-	9	3024	c.2894A>G	c.(2893-2895)cAa>cGa	p.Q965R	CTBP2_ENST00000337195.5_Missense_Mutation_p.Q425R|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q425R|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q425R|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q493R	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	425					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGAGGGCGCTTGGGAAGGATG	0.567000													4	116					0	0	0.014758	0	0
PSRC1	84722	broad.mit.edu	37	1	109824422	109824422	+	Missense_Mutation	SNP	C	C	T	rs114022452	byFrequency	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:109824422C>T	ENST00000438534.2	-	4	476	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	PSRC1_ENST00000409267.1_Missense_Mutation_p.R113Q|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113Q|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113Q|PSRC1_ENST00000369909.2_Missense_Mutation_p.R113Q	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGTCTCCCGCCGAGGACTGGG	0.672000													32	53					0	0	0.010818	0	0
ERF	2077	broad.mit.edu	37	19	42754040	42754040	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr19:42754040G>A	ENST00000222329.4	-	3	469	c.312C>T	c.(310-312)taC>taT	p.Y104Y	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Silent_p.Y29Y	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	104					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				AATTGAACTTGTAGGTGAACC	0.488000													30	134					0	0	0.008361	0	0
PTPRF	5792	broad.mit.edu	37	1	44069439	44069439	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:44069439G>A	ENST00000359947.4	+	16	2956	c.2616G>A	c.(2614-2616)aaG>aaA	p.K872K	PTPRF_ENST00000422171.2_Silent_p.K220K|PTPRF_ENST00000438120.1_Silent_p.K863K|PTPRF_ENST00000372413.3_Silent_p.K863K|PTPRF_ENST00000372414.3_Silent_p.K872K|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	872	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATTTCGGCAAGGATGACCAGC	0.632000													18	89					0	0	0.010504	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	95					0	0	0.009096	0	0
PANX2	56666	broad.mit.edu	37	22	50615649	50615649	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr22:50615649G>A	ENST00000395842.2	+	2	508	c.508G>A	c.(508-510)Gag>Aag	p.E170K	PANX2_ENST00000159647.5_Missense_Mutation_p.E170K	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	170					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGCGGCCGAGGGCCGCGC	0.662000													4	10					0	0	0.009096	0	0
TAL1	6886	broad.mit.edu	37	1	47691450	47691450	+	Silent	SNP	G	G	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:47691450G>A	ENST00000371883.3	-	2	687	c.111C>T	c.(109-111)gtC>gtT	p.V37V	TAL1_ENST00000371884.2_Silent_p.V37V|TAL1_ENST00000294339.3_Silent_p.V37V			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	37					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTCCTTGGCGACGCCGTTCA	0.796000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								11	27					0	0	0.013537	0	0
MAST2	23139	broad.mit.edu	37	1	46494559	46494559	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr1:46494559delT	ENST00000361297.2	+	18	2455	c.2172delT	c.(2170-2172)ccfs	p.P724fs	MAST2_ENST00000372008.1_Frame_Shift_Del_p.P609fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.P654fs	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	724	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCTGCGTCCCTTTTTTTGGAG	0.552													9	387	---	---	---	---					
PARP14	54625	broad.mit.edu	37	3	122418601	122418602	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr3:122418601_122418602insA	ENST00000474629.2	+	6	1466_1467	c.1200_1201insA	c.(1198-1203)gtacccfs	p.P401fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AATATAAAGTCAACCCAATTAA	0.406													55	123	---	---	---	---					
LOC440173	440173	broad.mit.edu	37	9	89627054	89627054	+	RNA	DEL	G	G	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:89627054delG	ENST00000602579.1	-	0	256					NR_027471.1																						GGCTCCAGCCGGAAGACCTAC	0.512													42	111	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139412704	139412704	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr9:139412704delG	ENST00000277541.6	-	7	1215	c.1140delC	c.(1138-1140)ccfs	p.P380fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	380	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGTTACAGGGGTTGCTGA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	23	---	---	---	---					
ADRBK1	156	broad.mit.edu	37	11	67044804	67044804	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr11:67044804delT	ENST00000308595.5	+	2	465	c.175delT	c.(175-177)ttfs	p.F59fs	ADRBK1_ENST00000526285.1_Frame_Shift_Del_p.F59fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	59	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGAGAAGATCTTTTCCCAGAA	0.607													57	149	---	---	---	---					
LCAT	3931	broad.mit.edu	37	16	67974104	67974112	+	In_Frame_Del	DEL	GCCCACGCC	GCCCACGCC	-	rs112299487		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:67974104_67974112delGCCCACGCC	ENST00000264005.5	-	6	1047_1055	c.1018_1026delGGCGTGGGC	c.(1018-1026)del	p.GVG340del		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	340					cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		GCGTGGGCAGGCCCACGCCGTAAAGACAG	0.608													33	153	---	---	---	---					
NFAT5	10725	broad.mit.edu	37	16	69727514	69727515	+	Frame_Shift_Del	DEL	CT	CT	-	rs148486602		TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr16:69727514_69727515delCT	ENST00000349945.1	+	14	5056_5057	c.3504_3505delCT	c.(3502-3507)aactfs	p.NS1168fs	NFAT5_ENST00000567239.1_Frame_Shift_Del_p.NS1261fs|NFAT5_ENST00000354436.2_Frame_Shift_Del_p.NS1244fs|NFAT5_ENST00000432919.1_Frame_Shift_Del_p.NS1262fs|NFAT5_ENST00000393742.2_Frame_Shift_Del_p.NS1168fs|NFAT5_ENST00000566899.1_Frame_Shift_Del_p.NS1168fs	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1244					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGCAGAGTAACTCTCCATCCCA	0.505													23	69	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578384	7578401	+	In_Frame_Del	DEL	GCAGCGCTCATGGTGGGG	GCAGCGCTCATGGTGGGG	-	rs68130327	by1000genomes	TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:7578384_7578401delGCAGCGCTCATGGTGGGG	ENST00000420246.2	-	5	661_678	c.529_546delCCCCACCATGAGCGCTGC	c.(529-546)del	p.PHHERC177del	TP53_ENST00000269305.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000359597.4_In_Frame_Del_p.PHHERC177del|TP53_ENST00000455263.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000413465.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000445888.2_In_Frame_Del_p.PHHERC177del|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.H179R(108)|p.H179Y(98)|p.H179L(43)|p.H179Q(23)|p.R181H(21)|p.R181C(19)|p.P177R(18)|p.P177L(17)|p.H178fs*69(16)|p.H179N(16)|p.E180*(14)|p.R181P(14)|p.H179D(13)|p.P177P(10)|p.P177_C182delPHHERC(8)|p.C182S(8)|p.P177S(8)|p.H178Y(8)|p.0?(8)|p.H178D(7)|p.E180D(6)|p.H47Y(6)|p.H178P(6)|p.H86Y(6)|p.E180K(5)|p.H178fs*3(5)|p.H178Q(5)|p.C182*(5)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.P177H(3)|p.H178N(3)|p.R175_E180delRCPHHE(3)|p.R181L(3)|p.R174fs*24(3)|p.H179fs*68(2)|p.H179H(2)|p.H47Q(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.P177fs*3(2)|p.C182R(2)|p.C182Y(2)|p.C182C(2)|p.R49C(2)|p.R88C(2)|p.H86R(2)|p.H86Q(2)|p.H85fs*69(2)|p.R181R(2)|p.H46fs*>45(2)|p.V173fs*59(2)|p.V173fs*69(1)|p.E180G(1)|p.E180fs*67(1)|p.E180Q(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.H178fs*6(1)|p.H47D(1)|p.R174fs*3(1)|p.H47N(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H178L(1)|p.E171fs*1(1)|p.H179del(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.E180>DGRCPHQ(1)|p.H178del(1)|p.E48D(1)|p.E180_S183del(1)|p.P177T(1)|p.R49P(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R175_H178>X(1)|p.C176_P177delCP(1)|p.P177fs*69(1)|p.R42fs*24(1)|p.R88P(1)|p.C182fs*4(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.C182fs*65(1)|p.E87D(1)|p.H85_S90delHHERCS(1)|p.H86D(1)|p.H86N(1)|p.C176fs*65(1)|p.R181G(1)|p.C176fs*68(1)|p.R174_H178>S(1)|p.H46D(1)|p.R181>XXXXXXX(1)|p.H178_H179>QY(1)|p.H85D(1)|p.?(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P84R(1)|p.P177_H179delPHH(1)|p.E180fs*6(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)		CGCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTC	0.638		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)			9	65	---	---	---	---					
CCDC144A	9720	broad.mit.edu	37	17	16631037	16631038	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-6873-01A-11D-1870-08	TCGA-BA-6873-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65b842c-257e-4ac7-a155-23d3ac12d41c	f976fe92-00c7-45c7-8acd-32cf2ae2e9e4	g.chr17:16631037_16631038delAG	ENST00000443444.2	+	9	2228_2229	c.2088_2089delAG	c.(2086-2091)aaagfs	p.KE696fs	CCDC144A_ENST00000456009.1_Frame_Shift_Del_p.KE416fs|CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.KE696fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.KE696fs|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.KE696fs			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	696																	AATGGGAGAAAGAGCTGTACGA	0.302													7	48	---	---	---	---					
