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
GJB5	2709	broad.mit.edu	37	1	35223555	35223555	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:35223555G>A	uc001bxu.3	+	1	724	c.624G>A	c.(622-624)ctG>ctA	p.L208L	GJB5_uc021okz.1_Silent_p.L208L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	208					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTACCTGGTGAGCAAGA	0.552												
DMAP1	55929	broad.mit.edu	37	1	44684377	44684377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:44684377C>T	uc001clq.1	+	5	750	c.670C>T	c.(670-672)Cga>Tga	p.R224*	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Nonsense_Mutation_p.R224*|DMAP1_uc001cls.1_Nonsense_Mutation_p.R224*|DMAP1_uc010oku.1_Nonsense_Mutation_p.R214*	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	224					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCACGAACGACGGCGGAA	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FLG	2312	broad.mit.edu	37	1	152286042	152286042	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:152286042G>A	uc001ezu.1	-	2	1356	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTTTCCGTGGCCTGACA	0.592									Ichthyosis			
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:155886422_155886423delCT	uc001fmi.1	-	11	1570_1571	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	516								p.R516fs*21(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396												
NES	10763	broad.mit.edu	37	1	156640774	156640774	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:156640774T>A	uc001fpq.3	-	3	3339	c.3206A>T	c.(3205-3207)gAt>gTt	p.D1069V	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1069	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCACATCATCTTCCACCAG	0.682												
C1orf129	80133	broad.mit.edu	37	1	170961421	170961421	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:170961421C>T	uc010plz.2	+	11	1299	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	C1orf129_uc001ghg.3_Missense_Mutation_p.T382M|C1orf129_uc009wvy.3_Missense_Mutation_p.T189M	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	382							binding	p.V381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACACCGTAACGGAAGGGAAA	0.468												
LHX9	56956	broad.mit.edu	37	1	197896816	197896816	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:197896816C>A	uc001guk.1	+	3	1266	c.829C>A	c.(829-831)Cac>Aac	p.H277N	LHX9_uc001gui.1_Missense_Mutation_p.H268N|LHX9_uc021pgw.1_Non-coding_Transcript	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	277					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCAAGCATCACCAGCTCCG	0.527												
PCNXL2	80003	broad.mit.edu	37	1	233394108	233394108	+	Silent	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:233394108T>C	uc001hvl.2	-	4	1735	c.1500A>G	c.(1498-1500)acA>acG	p.T500T	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	500						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCGGAGCCTGTATCAGGTG	0.562												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
GDF2	2658	broad.mit.edu	37	10	48413762	48413762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:48413762G>A	uc001jfa.1	-	1	1266	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	369					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTTCGTCGGCGTCACATCGTC	0.582												
PTEN	5728	broad.mit.edu	37	10	89692992	89692992	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:89692992G>A	uc001kfb.3	+	4	1508	c.476G>A	c.(475-477)aGg>aAg	p.R159K	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase 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.R159K(10)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(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)		GGGGAAGTAAGGACCAGAGAC	0.373		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)		
PRDM11	56981	broad.mit.edu	37	11	45117447	45117447	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:45117447G>A	uc001myo.3	+	1	340	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	31										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ttaccagagagagaaagtaag	0.488												
BCL9L	283149	broad.mit.edu	37	11	118773532	118773532	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:118773532G>A	uc001pug.3	-	5	1885	c.920C>T	c.(919-921)cCg>cTg	p.P307L	BCL9L_uc009zal.3_Missense_Mutation_p.P302L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	307	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCGGCGGCGGCAGTGGAGG	0.716												
TRIM29	23650	broad.mit.edu	37	11	120008709	120008709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:120008709C>T	uc001pwz.3	-	0	155	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	11					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCTCGACCCGTTGCTCCTG	0.632												
LRTM2	654429	broad.mit.edu	37	12	1943505	1943505	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:1943505T>G	uc001qjt.2	+	4	1537	c.731T>G	c.(730-732)aTg>aGg	p.M244R	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	244	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ATGGTCCCCATGGAGATGTTC	0.597												
CD163L1	283316	broad.mit.edu	37	12	7527093	7527093	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:7527093G>A	uc010sge.2	-	12	3410	c.3384C>T	c.(3382-3384)cgC>cgT	p.R1128R	CD163L1_uc001qsy.3_Silent_p.R1118R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1118	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCCCCAGCCGCGGGAAGGGC	0.617												
OVCH1	341350	broad.mit.edu	37	12	29628035	29628035	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:29628035C>T	uc001rix.1	-	13	1559	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	520	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R520H(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCTTGTAAACGATTTTTACC	0.338												
KRT79	338785	broad.mit.edu	37	12	53217720	53217720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53217720G>A	uc001sbb.3	-	5	1130	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	KRT79_uc001sba.3_Missense_Mutation_p.T137I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	366	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAGTGCGGGTGAGCTCAGC	0.612												
EIF4B	1975	broad.mit.edu	37	12	53421578	53421578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53421578G>A	uc001sbh.4	+	6	886	c.680G>A	c.(679-681)cGt>cAt	p.R227H	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227H|EIF4B_uc010snv.2_Missense_Mutation_p.R188H	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	227	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TATCGAGATCGTTATGATTCA	0.483												
CPSF6	11052	broad.mit.edu	37	12	69646899	69646899	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:69646899A>C	uc001sut.4	+	2	449	c.339A>C	c.(337-339)aaA>aaC	p.K113N	CPSF6_uc001suu.4_Missense_Mutation_p.K113N	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	113	Necessary for interaction with NUDT21/CPSF5.|RRM.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGAGATAAAATTTTTTGAAA	0.323												
HAL	3034	broad.mit.edu	37	12	96389631	96389631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:96389631C>T	uc001tem.1	-	1	355	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	HAL_uc010sux.1_Missense_Mutation_p.A20T|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	20					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGAGCTGCGCGTCCTGGCAG	0.642												
STAB2	55576	broad.mit.edu	37	12	104126949	104126949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104126949C>T	uc001tjw.3	+	50	5635	c.5449C>T	c.(5449-5451)Cga>Tga	p.R1817*	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1817	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATGTGATACGAGATGCCAA	0.463												
NFYB	4801	broad.mit.edu	37	12	104517017	104517017	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104517017T>C	uc001tkl.1	-	4	617	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	139	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAATTTCTGAAGGTATAA	0.363												
TPCN1	53373	broad.mit.edu	37	12	113724880	113724880	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113724880C>T	uc001tux.3	+	19	2005	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	TPCN1_uc001tuw.3_Missense_Mutation_p.R539C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGTGGTCCTGCGCCCCCTCCA	0.617												
SDSL	113675	broad.mit.edu	37	12	113873227	113873227	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113873227G>A	uc001tvi.3	+	6	744	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SDSL_uc009zwh.3_Silent_p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	179					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGGGTCTCCTGGCCGGGGTGG	0.657												
SCARB1	949	broad.mit.edu	37	12	125292425	125292425	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:125292425G>A	uc001ugp.3	-	6	1144	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SCARB1_uc001ugm.4_Silent_p.P297P|SCARB1_uc001ugn.4_Silent_p.P297P|SCARB1_uc010tbd.2_Silent_p.P297P|SCARB1_uc001ugo.4_Silent_p.P297P	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	297			P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGATAGGTGGGGATGCCTT	0.582												
RB1	5925	broad.mit.edu	37	13	48947596	48947596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr13:48947596C>T	uc001vcb.3	+	11	1349	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	RB1_uc010act.1_Nonsense_Mutation_p.Q96*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	395	Domain A.|Pocket; binds T and E1A.				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.?(8)|p.Q395*(6)		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)	AGCAAGTGATCAACCTTCAGA	0.294		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)		
OR4K5	79317	broad.mit.edu	37	14	20389151	20389151	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr14:20389151C>A	uc010tkw.2	+	0	386	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGCAAACCCTTATACTAT	0.448												
RNF151	146310	broad.mit.edu	37	16	2018613	2018614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:2018613_2018614insC	uc002cnt.1	+	3	433_434	c.425_426insC	c.(424-426)tgcfs	p.C142fs	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	142					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CAGCAGCGCTGCCCCCTGGGCT	0.728												
ITGAX	3687	broad.mit.edu	37	16	31392315	31392315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:31392315C>T	uc002ebt.3	+	28	3441	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	ITGAX_uc002ebu.1_Missense_Mutation_p.A1125V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1125					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCACAGCGGTACTGTAC	0.542												
SLC16A13	201232	broad.mit.edu	37	17	6941650	6941650	+	Missense_Mutation	SNP	G	G	A	rs139041380		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:6941650G>A	uc002geh.3	+	2	831	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	175						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTGCTGCTGGTGTCTGCCCT	0.667												
DVL2	1856	broad.mit.edu	37	17	7130543	7130543	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7130543G>A	uc002gez.1	-	12	1691	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	DVL2_uc010vtr.1_Missense_Mutation_p.P464L	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	470	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGCCGCTCAGGAAAGCCCTC	0.577												
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577096T>G	uc002gim.2	-	7	1036	c.842A>C	c.(841-843)gAc>gCc	p.D281A	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149A|TP53_uc010cnf.1_Missense_Mutation_p.D149A|TP53_uc002gii.1_Missense_Mutation_p.D149A|TP53_uc010cni.1_Missense_Mutation_p.D281A|TP53_uc010cnh.1_Missense_Mutation_p.D281A|TP53_uc002gij.2_Missense_Mutation_p.D281A|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.R280K(47)|p.D281E(28)|p.D281N(26)|p.D281G(20)|p.R280G(19)|p.D281H(19)|p.R280S(15)|p.R280I(14)|p.D281Y(11)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGG	0.552		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	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)		
CCDC42	146849	broad.mit.edu	37	17	8638499	8638499	+	Missense_Mutation	SNP	G	G	A	rs141089641	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:8638499G>A	uc002gln.3	-	5	1015	c.788C>T	c.(787-789)aCg>aTg	p.T263M	CCDC42_uc002glo.3_Missense_Mutation_p.T189M	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	263										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGGTTCAGCGTGGCCATCTT	0.587												
SLFN5	162394	broad.mit.edu	37	17	33591324	33591324	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:33591324T>C	uc002hjf.4	+	3	1378	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	421					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATATTGATTTTTTCTCAAAG	0.418												
FAM117A	81558	broad.mit.edu	37	17	47788746	47788746	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:47788746C>T	uc002ipk.3	-	7	1302	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	FAM117A_uc010wlz.2_Silent_p.P139P	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	411	Pro-rich.							p.P411L(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGGGCTGGCCGGGGGAAGGG	0.652												
KCTD2	23510	broad.mit.edu	37	17	73049201	73049201	+	Splice_Site	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:73049201G>A	uc002jmp.3	+	3	607	c.540_splice	c.e3+1	p.Q180_splice	KCTD2_uc010dfz.3_Splice_Site|KCTD2_uc002jmq.3_Splice_Site	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					AACTTCACAAGTAATGTATTT	0.478												
NFIX	4784	broad.mit.edu	37	19	13184252	13184252	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:13184252G>A	uc010xmx.2	+	3	716	c.663G>A	c.(661-663)caG>caA	p.Q221Q	NFIX_uc002mwd.3_Silent_p.Q213Q|NFIX_uc002mwe.3_Silent_p.Q205Q|NFIX_uc002mwf.3_Silent_p.Q216Q|NFIX_uc002mwg.2_Silent_p.Q212Q			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	213					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGTTTCCAGGACTGTTTTG	0.522												
CYP4F3	4051	broad.mit.edu	37	19	15758051	15758051	+	Missense_Mutation	SNP	C	C	T	rs149124841	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:15758051C>T	uc010xok.2	+	4	492	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CYP4F3_uc010xol.2_Missense_Mutation_p.R148C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R148C|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R148C|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	148					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCCGCCACCGTCGGATGCT	0.567												
MYO9B	4650	broad.mit.edu	37	19	17309077	17309077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:17309077C>T	uc010eak.3	+	23	4350	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S	MYO9B_uc002nfi.3_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1400	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATCCTCCCTCCCAGACGCAGG	0.622												
ZNF492	57615	broad.mit.edu	37	19	22847727	22847727	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22847727A>C	uc002nqw.3	+	3	1500	c.1256A>C	c.(1255-1257)aAa>aCa	p.K419T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTGGAGAGAAACCCTACAAA	0.368												
ZNF99	7652	broad.mit.edu	37	19	22941405	22941405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22941405G>A	uc021urt.1	-	3	1461	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.H436Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAACGCTTAAAAGCT	0.373												
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:49852054G>A	uc002pnh.3	-	8	759	c.653C>T	c.(652-654)tCg>tTg	p.S218L	TEAD2_uc002png.3_Missense_Mutation_p.S217L|TEAD2_uc002pni.3_Missense_Mutation_p.S217L|TEAD2_uc002pnj.3_Missense_Mutation_p.S214L|TEAD2_uc010yao.2_Missense_Mutation_p.S86L|TEAD2_uc010emw.3_Missense_Mutation_p.S217L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	214	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572												
SHANK1	50944	broad.mit.edu	37	19	51205802	51205802	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:51205802G>A	uc002psx.1	-	10	1688	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	557	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGAAGGAGCGTCCGGGTACC	0.701												
GPR75	10936	broad.mit.edu	37	2	54080319	54080320	+	In_Frame_Ins	INS	-	-	TGCACTAAG			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:54080319_54080320insTGCACTAAG	uc021vhn.1	-	0	1574_1575	c.1574_1575insCTTAGTGCA	c.(1573-1575)cag>caCTTAGTGCAg	p.524_525insHLV	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_In_Frame_Ins_p.524_525insHLV	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	524						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCATATTCCTGCACTAAGTC	0.411												
CEP68	23177	broad.mit.edu	37	2	65309696	65309696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:65309696G>A	uc002sdl.4	+	5	2345	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.A574T|CEP68_uc010yqc.2_Missense_Mutation_p.A711T	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	711					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGAGGATCGCAAAGCAGTC	0.463												
TTN	7273	broad.mit.edu	37	2	179589211	179589211	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179589211G>A	uc021vsy.1	-	68	17384	c.17159C>T	c.(17158-17160)aCg>aTg	p.T5720M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6647	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGTGCACGTTTCTCCTAC	0.478												
TTN	7273	broad.mit.edu	37	2	179637967	179637967	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179637967C>A	uc021vsy.1	-	32	7949	c.7724G>T	c.(7723-7725)aGt>aTt	p.S2575I	TTN_uc021vsz.1_Missense_Mutation_p.S2529I|TTN_uc021vta.1_Missense_Mutation_p.S2529I|TTN_uc021vtb.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2575							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTAGAACTGGGCTTGAT	0.353												
CCDC141	285025	broad.mit.edu	37	2	179701794	179701794	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179701794C>T	uc002une.2	-	22	4270	c.4152G>A	c.(4150-4152)agG>agA	p.R1384R	CCDC141_uc002unf.1_Silent_p.R863R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	809							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAACCATTTGCCTCTGATAGC	0.493												
Unknown	0	broad.mit.edu	37	2	190788411	190788411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:190788411G>A								PMS1 (46056 upstream) : MSTN (132015 downstream)																							GACTTTCAACGGGACTATTAT	0.512												
MPP4	58538	broad.mit.edu	37	2	202557686	202557686	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:202557686C>A	uc002uyk.4	-	2	354	c.146G>T	c.(145-147)gGa>gTa	p.G49V	MPP4_uc010ftj.3_Missense_Mutation_p.G49V|MPP4_uc010zhq.2_Missense_Mutation_p.G49V|MPP4_uc010zht.2_Missense_Mutation_p.G49V|MPP4_uc010zhr.2_Missense_Mutation_p.G49V|MPP4_uc010zhs.2_Missense_Mutation_p.G49V|MPP4_uc002uyj.4_Missense_Mutation_p.G49V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.3_Missense_Mutation_p.G49V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	49	L27 1.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GAGACACACTCCATTCACATC	0.547												
DIS3L2	129563	broad.mit.edu	37	2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233028324G>T	uc010fxz.3	+	8	1382	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	369							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433												
NEU2	4759	broad.mit.edu	37	2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233897493G>A	uc010zmn.2	+	0	112	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	38							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCTGGCCTTCGCGGAACAGCG	0.622												
DGKD	8527	broad.mit.edu	37	2	234358633	234358633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:234358633G>A	uc002vui.1	+	15	1906	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	632					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACAGCTGTCGATGAGCAGAA	0.642												
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:29625891C>G	uc010ztl.1	+	1	77	c.45C>G	c.(43-45)ggC>ggG	p.G15G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.P15P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343												
FOXS1	2307	broad.mit.edu	37	20	30432906	30432906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:30432906G>A	uc002wwt.1	-	0	515	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	147					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGCCGGTCGTGGCGTTGGG	0.687												
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SEMG2	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:43836216C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.T93M|SEMG2_uc002xnj.2_Missense_Mutation_p.T93M	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378												
COL6A2	1292	broad.mit.edu	37	21	47539015	47539015	+	Silent	SNP	C	C	T	rs61735827	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr21:47539015C>T	uc002zia.1	+	13	1333	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R	COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zhy.1_Silent_p.R417R	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R417R(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662												
TRIM71	131405	broad.mit.edu	37	3	32859692	32859692	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:32859692G>A	uc003cff.3	+	0	183	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	40	Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGTCCACGTCGTcggggg	0.736												
SCAP	22937	broad.mit.edu	37	3	47460316	47460316	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:47460316G>A	uc003crh.1	-	13	2213	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	SCAP_uc011baz.1_Missense_Mutation_p.P398L|SCAP_uc003crg.2_Missense_Mutation_p.P261L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	653					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATGACGGGCAGCAGGCT	0.706												
FAM116A	201627	broad.mit.edu	37	3	57627463	57627463	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:57627463A>G	uc003dja.3	-	11	1120	c.1049T>C	c.(1048-1050)aTa>aCa	p.I350T		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	350										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TACTCCTAATATAACTGAGGG	0.328												
RUVBL1	8607	broad.mit.edu	37	3	127784027	127784027	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:127784027G>C	uc003ekf.3	-	9					SEC61A1_uc003ekb.3_Intron|SEC61A1_uc003ekc.3_Intron|SEC61A1_uc003ekd.3_Intron|SEC61A1_uc003ekg.3_5'UTR	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.						cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CAGGTTTCCAGATGAGCTGGA	0.448												
TM4SF18	116441	broad.mit.edu	37	3	149051122	149051122	+	Silent	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:149051122C>A	uc021xfl.1	-	0	138	c.48G>T	c.(46-48)ccG>ccT	p.P16P	TM4SF18_uc003exa.3_Silent_p.P16P	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	16						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGTGCAAGCGGAATCAGCA	0.443												
AADAC	13	broad.mit.edu	37	3	151532029	151532029	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:151532029G>A	uc003eze.3	+	0	169	c.79G>A	c.(79-81)Gtt>Att	p.V27I	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	27					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCAGATAACGTTGAGGAGCC	0.408												
HTR3E	285242	broad.mit.edu	37	3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:183822631G>A	uc010hxr.3	+	2	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	HTR3E_uc010hxq.3_Missense_Mutation_p.R149H|HTR3E_uc003fml.4_Missense_Mutation_p.R134H|HTR3E_uc003fmm.3_Missense_Mutation_p.R164H|HTR3E_uc003fmn.3_Missense_Mutation_p.R149H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATGAAGGTCGCATCAGGTAT	0.488												
ATP13A4	84239	broad.mit.edu	37	3	193158372	193158372	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:193158372G>A	uc003ftd.3	-	20	2602	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	832					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTTCCACCAGACTGGACTTC	0.458												
ZFYVE28	57732	broad.mit.edu	37	4	2306576	2306576	+	Silent	SNP	G	G	A	rs146596546	by1000genomes	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:2306576G>A	uc003gex.2	-	7	1811	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	ZFYVE28_uc011bvk.2_Silent_p.D427D|ZFYVE28_uc011bvl.2_Silent_p.D467D|ZFYVE28_uc003gew.2_Silent_p.D383D	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	497					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGTCTCTGCGTCATCCGCAC	0.672												
SH3TC1	54436	broad.mit.edu	37	4	8230213	8230213	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:8230213G>A	uc003gkv.4	+	11	2893	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	SH3TC1_uc003gkw.4_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	931							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGCCGTGCGGCTGTTCTCG	0.701												
RBM47	54502	broad.mit.edu	37	4	40440789	40440789	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:40440789C>T	uc003gvc.2	-	3	832	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	41						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGCCCGTGCGCTCCATCAG	0.731												
CSN3	1448	broad.mit.edu	37	4	71115169	71115169	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:71115169C>T	uc003hfe.4	+	3	600	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding	p.T181M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413												
Unknown	10934	broad.mit.edu	37	4	174537295	174537295	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:174537295G>T								NBLA00301 (30416 upstream) : AK125257 (478516 downstream)																							ATACACCTGGGACATGGGTGC	0.443												
ADAMTS16	170690	broad.mit.edu	37	5	5232628	5232628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:5232628A>G	uc003jdl.3	+	12	1988	c.1850_splice	c.e12+1	p.K617_splice	ADAMTS16_uc003jdk.1_Splice_Site_p.K617_splice|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	617	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACCAACCCCAAGTAAGTATG	0.527												
TRPC7	57113	broad.mit.edu	37	5	135587388	135587388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:135587388C>T	uc003lbn.2	-	5	1750	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	TRPC7_uc010jef.2_Missense_Mutation_p.D446N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.D61N|TRPC7_uc010jeh.2_Missense_Mutation_p.D449N|TRPC7_uc010jei.2_Missense_Mutation_p.D394N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	510					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGCGTGTCGTCCTGCACG	0.602												
KIAA0141	9812	broad.mit.edu	37	5	141316857	141316857	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:141316857C>T	uc003lls.3	+	10	1366	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	KIAA0141_uc003llt.3_Missense_Mutation_p.S415L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	415					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCAGTCAGCCGCTCTG	0.562												
SOX30	11063	broad.mit.edu	37	5	157078323	157078323	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:157078323T>G	uc003lxb.1	-	0	1106	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	SOX30_uc003lxc.1_Missense_Mutation_p.Q255P|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	255					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCTTGCTGGTGCGGCCC	0.642												
DNAH8	1769	broad.mit.edu	37	6	38709656	38709656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:38709656delT	uc021yzh.1	+	7	1395	c.1286delT	c.(1285-1287)ctgfs	p.L429fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.L212fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.D428N(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTCCAAACTGCTAAAGGTA	0.343												
FILIP1	27145	broad.mit.edu	37	6	76023600	76023600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:76023600C>T	uc010kbe.3	-	5	2487	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	FILIP1_uc003phy.1_Missense_Mutation_p.E650K|FILIP1_uc003phz.3_Missense_Mutation_p.E551K|FILIP1_uc003pia.3_Missense_Mutation_p.E650K|FILIP1_uc003pib.1_Missense_Mutation_p.E402K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	650										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATCCCCTTCGACCACTTCC	0.418												
HTR1B	3351	broad.mit.edu	37	6	78172165	78172165	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:78172165A>C	uc003pil.1	-	0	956	c.956T>G	c.(955-957)aTt>aGt	p.I319S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCTCCCAAAATGATCCCTAG	0.507												
HDAC2	3066	broad.mit.edu	37	6	114266601	114266601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:114266601C>T	uc003pwd.2	-	9	1303	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	HDAC2_uc003pwc.2_Missense_Mutation_p.G309E|HDAC2_uc003pwe.2_Missense_Mutation_p.G309E	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	339					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GAAGTCTGGTCCAAAATACTC	0.299												
SYNE1	23345	broad.mit.edu	37	6	152644693	152644693	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:152644693G>A	uc021zhb.1	-	79	16060	c.15837C>T	c.(15835-15837)ctC>ctT	p.L5279L	SYNE1_uc003qot.4_Silent_p.L5208L|SYNE1_uc003qou.4_Silent_p.L5279L|SYNE1_uc010kiz.3_Silent_p.L1034L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5279					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCATCCTGGAGCATGCTCA	0.567										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155571053	155571053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:155571053G>A	uc003qqb.3	+	22	5174	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R	TIAM2_uc003qqe.3_Missense_Mutation_p.G1301R|TIAM2_uc010kjj.3_Missense_Mutation_p.G834R|TIAM2_uc003qqf.3_Missense_Mutation_p.G677R|TIAM2_uc011efl.1_Missense_Mutation_p.G637R|TIAM2_uc003qqg.3_Missense_Mutation_p.G613R|TIAM2_uc003qqh.3_Missense_Mutation_p.G226R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGGATTATGGGACCGTGTT	0.473												
AMZ1	155185	broad.mit.edu	37	7	2740173	2740174	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:2740173_2740174insA	uc003smr.1	+	1	449_450	c.88_89insA	c.(88-90)cagfs	p.Q30fs	AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	30							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCCTGCAGCAGCTGTATGTG	0.668												
ZNF727	442319	broad.mit.edu	37	7	63529386	63529386	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:63529386T>G	uc011kdm.2	+	1	300	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F41V(2)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CGGAAACCTGTTCTCCTTGGG	0.383												
ABCB4	5244	broad.mit.edu	37	7	87060779	87060779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87060779C>T	uc003uiv.1	-	14	1910	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	612	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTGGCTTCCTTGCTCCACA	0.478												
DBF4	10926	broad.mit.edu	37	7	87525787	87525787	+	Splice_Site	SNP	A	A	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87525787A>T	uc003ujf.1	+	7	1102	c.598_splice	c.e7-2	p.G200_splice	DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	200					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTTTTTTTTAGGGCAAAAGA	0.299												
NPTX2	4885	broad.mit.edu	37	7	98256538	98256538	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:98256538C>T	uc003upl.2	+	3	1127	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	317	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642												
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:100187923C>T	uc011kjz.1	+	2	447	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	89						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602												
DLD	1738	broad.mit.edu	37	7	107545876	107545876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:107545876G>A	uc003vet.3	+	6	619	c.509G>A	c.(508-510)gGc>gAc	p.G170D	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.G147D|DLD_uc011kmi.2_Missense_Mutation_p.G71D	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	170					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GCTGATGGCGGCACTCAGGTT	0.358												
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:131195806_131195807insG	uc003vqw.4	-	1	744_745	c.486_487insC	c.(484-489)agcagcfs	p.S162fs	PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535												
SSPO	23145	broad.mit.edu	37	7	149508065	149508065	+	Silent	SNP	G	G	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149508065G>C	uc010lpk.3	+	65	9450	c.9450G>C	c.(9448-9450)ccG>ccC	p.P3150P		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3153					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTACCCCCCGGGCAGCACTG	0.602												
ACTR3C	653857	broad.mit.edu	37	7	149990455	149990455	+	Silent	SNP	T	T	C	rs146995367	by1000genomes	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149990455T>C	uc003wgu.2	-	2	289	c.99A>G	c.(97-99)acA>acG	p.T33T	ACTR3C_uc022aps.1_Silent_p.T33T	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	33					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding	p.T33T(1)									TCCCCGTTAATGTACGTTCAC	0.468												
PKHD1L1	93035	broad.mit.edu	37	8	110476765	110476765	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr8:110476765C>A	uc003yne.3	+	48	7808	c.7704C>A	c.(7702-7704)aaC>aaA	p.N2568K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2568					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAACCCGAACAATACCATAC	0.468										HNSCC(38;0.096)		
INSL6	11172	broad.mit.edu	37	9	5185586	5185586	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:5185586C>T	uc003zix.3	-	0	33	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	6						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CAGGGACAAGCGGAGGAGCCG	0.642												
PLIN2	123	broad.mit.edu	37	9	19116616	19116616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:19116616C>T	uc003zno.3	-	7	1154	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLIN2_uc011lna.2_Missense_Mutation_p.R287H	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	315					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTCAGGTTGCGGGCAATTGC	0.463												
FAM75C1	441452	broad.mit.edu	37	9	90537694	90537694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90537694C>T	uc010mqi.3	+	3	2901	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S	FAM75C1_uc004apq.4_Missense_Mutation_p.P941S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATGTTTCCCCCTACTCACAA	0.483												
SPATA31C2	645961	broad.mit.edu	37	9	90745392	90745392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90745392C>T	uc011lti.2	-	3	2589	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	854																	CTAACAGCCTCCTCCATGAGA	0.527												
FBP1	2203	broad.mit.edu	37	9	97380089	97380089	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:97380089G>A	uc004auw.4	-	2	718	c.387C>T	c.(385-387)tgC>tgT	p.C129C	FBP1_uc010mrl.3_Silent_p.C129C	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	129					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGGACACAAGGCAATCGATGT	0.388												
BCOR	54880	broad.mit.edu	37	X	39931847	39931847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:39931847G>A	uc004den.4	-	3	3044	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	BCOR_uc004dep.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.4_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.4_Nonsense_Mutation_p.Q918*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	918					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGATCCTCTTGGGTTTTACCA	0.527			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic					
DGKK	139189	broad.mit.edu	37	X	50114831	50114831	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:50114831C>T	uc010njr.2	-	26	3527	c.3483G>A	c.(3481-3483)ctG>ctA	p.L1161L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1168					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGCACTTCTCAGCTGGTACA	0.468												
GLUD2	2747	broad.mit.edu	37	X	120183088	120183088	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:120183088C>A	uc004eto.3	+	0	1627	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	517					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGGAGCGTTCTGCCAGGCAA	0.463												
