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
TTC4	7268	broad.mit.edu	37	1	55207175	55207175	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:55207175C>G	uc001cxv.3	+	9	1318	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	385							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAAGGTGTACCAGATACGATG	0.517												
RPE65	6121	broad.mit.edu	37	1	68905261	68905261	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:68905261C>A	uc001dei.1	-	6	762	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	236					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGTAAGATGGCTTGAATCGGT	0.403												
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423												
RPRD2	23248	broad.mit.edu	37	1	150437160	150437160	+	Silent	SNP	T	T	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:150437160T>A	uc009wlr.3	+	9	1770	c.1569T>A	c.(1567-1569)tcT>tcA	p.S523S	RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	523	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTCTGTCTGCACTTTCCA	0.502											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC9C2	284525	broad.mit.edu	37	1	173526582	173526582	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:173526582C>G	uc001giz.2	-	9	1535	c.1112G>C	c.(1111-1113)tGg>tCg	p.W371S	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	371					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TACAACTCCCCATCGCCAATT	0.368												
RYR2	6262	broad.mit.edu	37	1	237791219	237791219	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:237791219C>T	uc001hyl.1	+	40	6399	c.6279C>T	c.(6277-6279)gaC>gaT	p.D2093D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2093	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGTATGACGGCATTGGGG	0.552												
KIAA0913	23053	broad.mit.edu	37	10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:75556970G>A	uc001jvj.3	+	16	3614	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1120							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTGGCAGTCGTGGAGGCTAT	0.577												
PTEN	5728	broad.mit.edu	37	10	89720661	89720661	+	Missense_Mutation	SNP	T	T	C	rs142420551		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:89720661T>C	uc001kfb.3	+	7	1844	c.812T>C	c.(811-813)tTt>tCt	p.F271S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	271	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAAATGTTTCACTTTTGG	0.274		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MUC5B	727897	broad.mit.edu	37	11	1273709	1273709	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:1273709G>A	uc001lta.3	+	31	15059	c.15000G>A	c.(14998-15000)tcG>tcA	p.S5000S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5000					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGTCCTCGCCCTCCCCTG	0.682												
OR5P2	120065	broad.mit.edu	37	11	7818411	7818411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:7818411G>A	uc001mfp.1	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGACTCGAAGGATTGGA	0.428												
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:55681277C>T	uc010rir.2	-	0	782	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)|p.R261Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443												
MAP3K11	4296	broad.mit.edu	37	11	65375157	65375157	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:65375157C>T	uc001oew.3	-	3	1693	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	400					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGATCTCGCGCTTCCAGCCTT	0.617												
HEPHL1	341208	broad.mit.edu	37	11	93808410	93808410	+	Silent	SNP	C	C	T	rs61746203		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:93808410C>T	uc001pep.2	+	8	1732	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	525	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCTGAGAGCGTAAGCCCAA	0.468												
PDZD3	79849	broad.mit.edu	37	11	119059542	119059542	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:119059542G>T	uc001pwb.3	+	6	1975	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	484	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGACTCAGTTGTGTGGCCAGT	0.572												
CSDA	8531	broad.mit.edu	37	12	10854621	10854621	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:10854621G>A	uc001qyt.3	-	7	1234	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	CSDA_uc001qyu.3_Missense_Mutation_p.R262C	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	331					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TTGTAGGGACGCCGGTATCCA	0.567												
KRT86	3892	broad.mit.edu	37	12	52699175	52699175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:52699175G>A	uc010snq.2	+	5	1020	c.887G>A	c.(886-888)tGg>tAg	p.W296*	KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296*	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	296	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGAGTCCTGGTACCGCAGC	0.542												
PTPRB	5787	broad.mit.edu	37	12	70990028	70990028	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:70990028A>G	uc001swb.4	-	2	435	c.405T>C	c.(403-405)tcT>tcC	p.S135S	PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	135	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTTCCGGAAGAAGGAGTCC	0.408												
RIMBP2	23504	broad.mit.edu	37	12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:130907060C>T	uc001uil.2	-	12	2624	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	803						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567												
SACS	26278	broad.mit.edu	37	13	23913301	23913301	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:23913301T>C	uc001uon.2	-	9	5303	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1572					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGACTCATAATGATGGGAATG	0.338												
RB1	5925	broad.mit.edu	37	13	48941694	48941694	+	Nonsense_Mutation	SNP	T	T	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:48941694T>G	uc001vcb.3	+	9	1170	c.1004T>G	c.(1003-1005)tTa>tGa	p.L335*	RB1_uc010act.1_Nonsense_Mutation_p.L36*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	335					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGCAAGATTATTTTTGGAT	0.284		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
FARP1	10160	broad.mit.edu	37	13	98865588	98865588	+	Missense_Mutation	SNP	C	C	T	rs113972742		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:98865588C>T	uc001vnh.3	+	1	331	c.92C>T	c.(91-93)cCg>cTg	p.P31L	FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	31					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACAGAAGCCGCCCCCAACA	0.537												
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478												
DYNC1H1	1778	broad.mit.edu	37	14	102467294	102467294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:102467294C>T	uc001yks.2	+	18	4242	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1360	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGACAGCTTCGACAAAATTT	0.443												
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592												
KIF7	374654	broad.mit.edu	37	15	90188330	90188330	+	Missense_Mutation	SNP	C	C	T	rs149078926	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:90188330C>T	uc002bof.2	-	9	2182	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	KIF7_uc010upw.1_Missense_Mutation_p.R188Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	702					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCCAGCCGCCACTCTGA	0.652												
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652												
NXN	64359	broad.mit.edu	37	17	708351	708351	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:708351G>A	uc002fsa.3	-	5	1037	c.957C>T	c.(955-957)aaC>aaT	p.N319N	NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	319	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTGCGCGGCGTTGGAGTCGG	0.692												
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7572986G>T	uc002gim.2	-	10	1317	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	375	Basic (repression of DNA-binding).|Interaction with CARM1.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q375*(2)|p.?(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)		GAGGTAGACTGACCCTTTTTG	0.527		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)		
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)		
TBC1D3	729873	broad.mit.edu	37	17	36288289	36288289	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:36288289C>T	uc010wdk.1	+	4	559	c.558C>T	c.(556-558)ccC>ccT	p.P186P	TBC1D3_uc002hoo.2_Silent_p.P125P|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Silent_p.P45P|TBC1D3_uc010cvf.1_Silent_p.P125P|TBC1D3_uc002hoq.2_Silent_p.P125P|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	125	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.P125P(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAAAAACCCCGGAAGATACC	0.572												
GRB7	2886	broad.mit.edu	37	17	37901165	37901165	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:37901165G>C	uc002hsr.3	+	8	1214	c.939G>C	c.(937-939)aaG>aaC	p.K313N	GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	313	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATGGCCACAAGGGGCTTCGGA	0.582												
KRT25	147183	broad.mit.edu	37	17	38910206	38910206	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:38910206A>G	uc002hve.3	-	2	636	c.575T>C	c.(574-576)gTt>gCt	p.V192A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	192	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCATCCAAAACTCTTCGTAA	0.403												
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:59946709G>A	uc002izn.3	-	21	3163	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_uc002izm.3_Silent_p.V1021V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.V1029V(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373												
MRPS7	51081	broad.mit.edu	37	17	73258939	73258939	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:73258939C>T	uc002jnm.4	+	2	563	c.330C>T	c.(328-330)ctC>ctT	p.L110L	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	110					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCAGATCCCTCATGATTCAGG	0.448												
GAMT	2593	broad.mit.edu	37	19	1397419	1397419	+	Missense_Mutation	SNP	G	G	A	rs139890971		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:1397419G>A	uc002lsj.3	-	5	727	c.650C>T	c.(649-651)cCg>cTg	p.P217L	AK126693_uc002lsi.1_5'Flank	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	217					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	GCAGTCGGCCGGTGGGACCAG	0.701												
TJP3	27134	broad.mit.edu	37	19	3738562	3738562	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:3738562G>A	uc010xhv.2	+	10	1393	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	446						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAATGACGTGCCATTCCA	0.577												
PNPLA6	10908	broad.mit.edu	37	19	7607932	7607932	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:7607932G>A	uc010xjq.2	+	14	1837	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	524					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACCACGCCAAAGCTGG	0.627												
SLC1A6	6511	broad.mit.edu	37	19	15067342	15067342	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15067342G>C	uc002naa.1	-	5	1122	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	372					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCAATGAAGGGGAAGGGGTT	0.592												
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672												
F2RL3	9002	broad.mit.edu	37	19	17000842	17000842	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:17000842C>T	uc002nfa.3	+	1	743	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGTGGCCGGCGCCTGGC	0.711												
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38899502_38899504delAAG	uc002oin.1	+	7	1049_1051	c.1030_1032delAAG	c.(1030-1032)aagdel	p.K349del	FAM98C_uc002oio.1_In_Frame_Del_p.K267del|FAM98C_uc010xtz.1_3'UTR	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606												
RASGRP4	115727	broad.mit.edu	37	19	38909096	38909096	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38909096C>G	uc021uub.1	-	6	986	c.772G>C	c.(772-774)Gtg>Ctg	p.V258L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	258	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCTCAGCACCATCACCTGC	0.662												
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547												
ZSCAN1	284312	broad.mit.edu	37	19	58564824	58564824	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:58564824C>T	uc002qrc.1	+	5	879	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	211					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTGAAGCCGAGTATCTGG	0.652												
TTC7A	57217	broad.mit.edu	37	2	47206005	47206005	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:47206005A>G	uc010fbb.3	+	4	1091	c.723A>G	c.(721-723)gaA>gaG	p.E241E	TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	241							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTCCTGGAAGCTGCCCTCC	0.537												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809567	48809567	+	Missense_Mutation	SNP	C	C	T	rs147440328		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:48809567C>T	uc002rwp.2	+	1	1909	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	599					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R599C(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAATGAACCGCCGAGCATG	0.483												
EDAR	10913	broad.mit.edu	37	2	109522815	109522815	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:109522815G>A	uc010fjn.3	-	10	1616	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	325					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTTTCCTCCGGCTTTGAATC	0.512												
CNTNAP5	129684	broad.mit.edu	37	2	125504853	125504853	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:125504853C>A	uc010flu.3	+	13	2489	c.2125C>A	c.(2125-2127)Cct>Act	p.P709T	CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	708	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAAGGCACCCTTACTGGGG	0.537												
POTEE	445582	broad.mit.edu	37	2	131984443	131984443	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:131984443A>G	uc002tsn.2	+	3	910	c.858A>G	c.(856-858)caA>caG	p.Q286Q	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	286							ATP binding										AAAAACAGCAAGTCGTGAAAT	0.333												
LOC401010	401010	broad.mit.edu	37	2	132201663	132201663	+	Silent	SNP	T	T	C	rs1317139	by1000genomes	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:132201663T>C	uc002tst.2	-	0	805	c.339A>G	c.(337-339)gcA>gcG	p.A113A						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CCATCGTCTCTGCCACACAGG	0.607												
LOC401010	401010	broad.mit.edu	37	2	132201718	132201718	+	Missense_Mutation	SNP	T	T	C	rs2001215	by1000genomes	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:132201718T>C	uc002tst.2	-	0	750	c.284A>G	c.(283-285)cAt>cGt	p.H95R						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		GATGTCCACATGGAGCTTCCC	0.597												
ZNF804A	91752	broad.mit.edu	37	2	185731110	185731110	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:185731110G>C	uc002uph.3	+	1	720	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	42						intracellular	zinc ion binding	p.E41Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGCTGAGAAGGAAAATACCA	0.363												
MPP4	58538	broad.mit.edu	37	2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:202552079G>A	uc002uyk.4	-	4	503	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	99	L27 2.					cytoplasm	protein binding	p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408												
ZNF831	128611	broad.mit.edu	37	20	57768855	57768855	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:57768855A>C	uc002yan.3	+	0	2781	c.2781A>C	c.(2779-2781)agA>agC	p.R927S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	927						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCTCCTAGAGTGCTCTCTG	0.632												
CDH4	1002	broad.mit.edu	37	20	60503346	60503346	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60503346G>A	uc002ybn.2	+	11	1958	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	624	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGATCTGCGAGAAGCCCAA	0.642												
HRH3	11255	broad.mit.edu	37	20	60793588	60793588	+	Missense_Mutation	SNP	C	C	T	rs142903103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60793588C>T	uc002yci.3	-	1	673	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	126					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGATGAGCACGATGTTGAAG	0.647												
KRTAP13-1	140258	broad.mit.edu	37	21	31768677	31768677	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:31768677C>T	uc002yoa.3	+	0	286	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAGTCCCTGCCAGACAA	0.612												
FAM3B	54097	broad.mit.edu	37	21	42720528	42720528	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:42720528C>T	uc002yzb.1	+	6	641	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	165					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)				GACTGAATAACGATGCCAAGA	0.463												
SHISA5	51246	broad.mit.edu	37	3	48520627	48520627	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:48520627C>T	uc003ctp.1	-	2	407	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	91					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						ACCTCAGCGCCGAGCCCAGCT	0.592												
CACNA2D2	9254	broad.mit.edu	37	3	50513588	50513588	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:50513588G>A	uc003daq.3	-	1	287	c.249C>T	c.(247-249)ggC>ggT	p.G83G	CACNA2D2_uc003dap.3_Silent_p.G83G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	83					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCGCATCACGCCGTCGACCT	0.632												
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:75790798G>A	uc011bgi.2	-	2	470	c.147C>T	c.(145-147)gaC>gaT	p.D49D	ZNF717_uc003dpw.3_Non-coding_Transcript	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN	Homo sapiens zinc finger protein 717 (ZNF717), mRNA.	49					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502												
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:178916726G>A	uc003fjk.3	+	1	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:56336954delA	uc003haz.1	-	8	1294	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	123	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L123fs*1(4)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289												
PF4V1	5197	broad.mit.edu	37	4	74719597	74719597	+	Silent	SNP	C	C	T	rs147144357		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:74719597C>T	uc003hhg.1	+	1	265	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	66					immune response	extracellular region	chemokine activity|heparin binding	p.A66G(2)		endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGATCAAGGCCGGACCCCACT	0.612												
TACR3	6870	broad.mit.edu	37	4	104579420	104579420	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:104579420C>T	uc003hxe.1	-	1	830	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	230						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGAGAGTACGGCCTGGCAT	0.393												
ZNF827	152485	broad.mit.edu	37	4	146697085	146697085	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:146697085C>T	uc003ikn.3	-	9	2597	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCATAGGGGCACAAGTGGCA	0.498												
ODZ3	55714	broad.mit.edu	37	4	183651467	183651467	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:183651467C>T	uc003ivd.1	+	13	2775	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	ODZ3_uc003ive.1_Silent_p.D306D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	900					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCCGCCAGGACGGAATGTGAG	0.398												
FCHO2	115548	broad.mit.edu	37	5	72383422	72383422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:72383422G>A	uc003kcl.3	+	24	2368	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	751										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTAGGTTCTGGGTCCCTCCGA	0.398												
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)		
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:25450163C>T	uc011djw.2	+	5	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468												
ABCF1	23	broad.mit.edu	37	6	30548286	30548286	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:30548286A>G	uc003nql.3	+	7	763	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	223	Glu-rich.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCCAAGAAGGCAGAGCAG	0.453												
CYP21A2	1589	broad.mit.edu	37	6	31973481	31973483	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:31973481_31973483delCTG	uc021yvd.1	+	0	123_125	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	CYP21A1P_uc021yve.1_5'UTR			P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	9					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						gctcctgggcctgctgctgctgc	0.660												
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577												
PCLO	27445	broad.mit.edu	37	7	82583736	82583736	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:82583736G>T	uc003uhx.2	-	4	6822	c.6533C>A	c.(6532-6534)cCc>cAc	p.P2178H	PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2109					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						TGTGTCAGAGGGTGGGACAGA	0.428												
MUC17	140453	broad.mit.edu	37	7	100684314	100684314	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:100684314C>G	uc003uxp.1	+	2	9670	c.9617C>G	c.(9616-9618)aCt>aGt	p.T3206S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3206	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCATCTACAACTGCTGAAGGT	0.502												
EZH2	2146	broad.mit.edu	37	7	148529726	148529726	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:148529726C>G	uc003wfd.2	-	4	556	c.363_splice	c.e4+1	p.M121_splice	EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	121	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTACATACCATAAAATTCT	0.313			Mis		DLBCL							
TNFRSF10C	8794	broad.mit.edu	37	8	22972207	22972207	+	Silent	SNP	G	G	A	rs74480765	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:22972207G>A	uc003xcy.3	+	2	512	c.204G>A	c.(202-204)ccG>ccA	p.P68P	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	68					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468												
SLCO5A1	81796	broad.mit.edu	37	8	70617355	70617355	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:70617355A>G	uc003xyl.3	-	5	2240	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	511						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGACACACCACTGCAGATCA	0.408												
RIMS2	9699	broad.mit.edu	37	8	104897848	104897848	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:104897848C>T	uc003yls.3	+	1	596	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	372	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAATTTGGCCCGTTATCCAGT	0.473										HNSCC(12;0.0054)		
CNTLN	54875	broad.mit.edu	37	9	17330744	17330744	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:17330744A>G	uc003zmz.2	+	8	1482	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	486						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTCAGAAAACATATCTGCCAA	0.368												
FBXO10	26267	broad.mit.edu	37	9	37515999	37515999	+	Silent	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:37515999G>T	uc004aac.3	-	9	2726	c.2646C>A	c.(2644-2646)atC>atA	p.I882I	FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522												
TMC1	117531	broad.mit.edu	37	9	75435855	75435855	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:75435855G>A	uc004aiz.1	+	19	2401	c.1861G>A	c.(1861-1863)Gtt>Att	p.V621I	TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	621					sensory perception of sound	integral to membrane		p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGCTGCAATGTTCCTGAGGC	0.502												
ASTN2	23245	broad.mit.edu	37	9	119770488	119770488	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:119770488A>G	uc004bjt.2	-	5	1422	c.1321T>C	c.(1321-1323)Tta>Cta	p.L441L	ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	492						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCGGGTTTAACCAGTCGGAG	0.512												
GPSM1	26086	broad.mit.edu	37	9	139250804	139250804	+	Silent	SNP	G	G	A	rs79557901	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:139250804G>A	uc004chd.2	+	12	1843	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	541					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCAGCCCTCGATGACGGCCT	0.716												
MSL3	10943	broad.mit.edu	37	X	11790368	11790371	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:11790368_11790371delTTGT	uc004cuw.3	+	10	1480_1483	c.1375_1378delTTGT	c.(1375-1380)ttgtttfs	p.L459fs	MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	459					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTGCTGCGATTGTTTGGTAAGAA	0.451												
KCND1	3750	broad.mit.edu	37	X	48819889	48819889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:48819889C>T	uc004dlx.1	-	5	3470	c.1897G>A	c.(1897-1899)Ggt>Agt	p.G633S	KCND1_uc004dlw.1_Missense_Mutation_p.G256S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	633						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CAAGGGGTACCCAGGCTGGAG	0.612												
VSIG4	11326	broad.mit.edu	37	X	65242302	65242302	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:65242302T>C	uc004dwh.2	-	7	1130	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	335					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGCCACCCTCATGGTTTCT	0.567												
USP26	83844	broad.mit.edu	37	X	132161219	132161219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:132161219G>A	uc011mvf.2	-	0	1082	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	USP26_uc010nrm.1_Missense_Mutation_p.R344W	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	344					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTAGCCGTGCCAAGCAC	0.378												
AFF2	2334	broad.mit.edu	37	X	147924922	147924922	+	Silent	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:147924922C>A	uc004fcp.3	+	6	1706	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	409					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCCAACCACCAGAGCTT	0.378												
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627												
