Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SNURF	8926	broad.mit.edu	37	15	25213157	25213157	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:25213157C>T	ENST00000338094.6	+	3	250	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000338327.4_Silent_p.F63F|SNRPN_ENST00000400100.1_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNURF_ENST00000551312.2_Silent_p.F63F|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000577949.1_Silent_p.F63F	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GGCAGGCATTCTTAGCTGAGA	0.468000													5	27					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701683	62701683	+	Silent	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:62701683G>C	ENST00000361317.2	+	8	949	c.507G>C	c.(505-507)ctG>ctC	p.L169L	TCEA2_ENST00000395053.3_3'UTR|TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Silent_p.L196L	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	196	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCTCCAACCTGAAGGATGCCA	0.542000													15	52					0	0	1	0	0
ZNF571	51276	broad.mit.edu	37	19	38057017	38057017	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:38057017C>G	ENST00000328550.2	-	4	412	c.313G>C	c.(313-315)Ggg>Cgg	p.G105R	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G105R|ZNF571_ENST00000358744.3_Missense_Mutation_p.G105R|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G105R|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF540_ENST00000592533.1_Intron			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGTAAAGCCCTTCCTGACTT	0.403000													20	62					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234178697	234178697	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:234178697C>T	ENST00000392017.4	+	6	948	c.691C>T	c.(691-693)Cct>Tct	p.P231S	ATG16L1_ENST00000347464.5_Missense_Mutation_p.P87S|ATG16L1_ENST00000392018.1_Missense_Mutation_p.P231S|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P231S|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P87S	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	231					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AGCAAAGGAACCTCTACCAGT	0.368000													9	59					0	0	1	0	0
TOP2B	7155	broad.mit.edu	37	3	25665051	25665051	+	Silent	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:25665051C>A	ENST00000435706.2	-	21	2868	c.2667G>T	c.(2665-2667)gtG>gtT	p.V889V	TOP2B_ENST00000264331.4_Silent_p.V894V			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	894					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGACATTGTTCACAATTTCCC	0.363000													8	23					0.0581538	0.0584593	1	1	0
PI4K2B	55300	broad.mit.edu	37	4	25260800	25260800	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:25260800A>G	ENST00000264864.6	+	5	1087	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.I204V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	300	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GGATTACATCATCAGAAATAC	0.303000													15	38					0	0	1	0	0
C8orf59	401466	broad.mit.edu	37	8	86127171	86127171	+	Silent	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:86127171A>C	ENST00000417663.2	-	3	281	c.210T>G	c.(208-210)ctT>ctG	p.L70L	C8orf59_ENST00000518562.1_Intron|E2F5_ENST00000519128.1_3'UTR|C8orf59_ENST00000421308.2_Silent_p.L70L|C8orf59_ENST00000524353.1_Silent_p.L70L|C8orf59_ENST00000458398.2_Silent_p.L70L|C8orf59_ENST00000431163.2_Intron|C8orf59_ENST00000518091.1_Silent_p.L70L	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	70																	GCAGAGGTTCAAGTGAAATGC	0.313000													4	27					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070253	197070253	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:197070253T>C	ENST00000367409.4	-	18	8384	c.8128A>G	c.(8128-8130)Aca>Gca	p.T2710A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2710	IQ 30.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTCTTTGTTTCATAATCA	0.348000													7	31					0	0	1	0	0
FUZ	80199	broad.mit.edu	37	19	50315885	50315885	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:50315885T>C	ENST00000313777.4	-	2	383	c.220A>G	c.(220-222)Agc>Ggc	p.S74G	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.S24G|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000445575.2_Missense_Mutation_p.S74G|FUZ_ENST00000526575.1_Missense_Mutation_p.S74G	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	74					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCATGGAAGCTTTTCCACACC	0.572000													26	29					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153660128	153660128	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:153660128C>T	ENST00000368680.3	+	14	2583	c.2111C>T	c.(2110-2112)cCt>cTt	p.P704L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	704	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGACGGCCCCTGAGCTCCTG	0.602000													20	101					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91312739	91312739	+	Silent	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:91312739G>T	ENST00000355112.3	+	12	2596	c.2478G>T	c.(2476-2478)gtG>gtT	p.V826V	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Silent_p.V826V	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	826	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGTTCCGGTGATGGCTCTTA	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				6	27					0.00116845	0.00119766	1	1	0
TUBG1	7283	broad.mit.edu	37	17	40762124	40762124	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:40762124A>T	ENST00000251413.3	+	2	111		c.e2-1		FAM134C_ENST00000585894.1_Intron	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1						G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CCTTCCCCCCAGTTGGGTTCG	0.632000													4	30					0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399551	90399551	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:90399551T>C	ENST00000337338.5	+	3	1331	c.924T>C	c.(922-924)taT>taC	p.Y308Y	LRRC8D_ENST00000394593.3_Silent_p.Y308Y	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	308						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ATAAACTCTATGTGGTCCAAA	0.433000													14	52					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32386199	32386199	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:32386199A>C	ENST00000283365.9	+	6	730	c.379A>C	c.(379-381)Att>Ctt	p.I127L	DTNA_ENST00000597599.1_Missense_Mutation_p.I127L|DTNA_ENST00000598334.1_Missense_Mutation_p.I127L|DTNA_ENST00000399121.5_Missense_Mutation_p.I127L|DTNA_ENST00000598142.1_Missense_Mutation_p.I127L|DTNA_ENST00000315456.6_Missense_Mutation_p.I127L|DTNA_ENST00000595022.1_Missense_Mutation_p.I127L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.I127L|DTNA_ENST00000596745.1_Missense_Mutation_p.I127L|DTNA_ENST00000269190.7_Missense_Mutation_p.I127L|DTNA_ENST00000444659.1_Missense_Mutation_p.I127L|DTNA_ENST00000399113.3_Missense_Mutation_p.I127L|DTNA_ENST00000598774.1_Missense_Mutation_p.I127L|DTNA_ENST00000269191.6_Missense_Mutation_p.I127L|DTNA_ENST00000348997.5_Missense_Mutation_p.I127L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	127	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCATGGTAAAATTTCAGTATT	0.348000													5	27					0	0	1	0	0
YBX3	8531	broad.mit.edu	37	12	10865866	10865866	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:10865866C>A	ENST00000228251.4	-	5	717	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	YBX3_ENST00000279550.7_Missense_Mutation_p.D173Y	NM_003651.4	NP_003642.3			Y box binding protein 3																		CGGCGCCGATCTGCAGCGTAA	0.507000													29	43					3.1745e-13	3.48406e-13	1	1	0
ZNF180	7733	broad.mit.edu	37	19	44981364	44981364	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:44981364G>A	ENST00000221327.4	-	5	1615	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	ZNF180_ENST00000592529.1_Missense_Mutation_p.S418L|ZNF180_ENST00000391956.4_Missense_Mutation_p.S420L	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTGCCTGAATGACTTTCCACA	0.393000													45	54					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55736234	55736234	+	Splice_Site	SNP	G	G	T	rs5561		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:55736234G>T	ENST00000379906.2	+	14	2085		c.e14-1		SLC6A2_ENST00000414754.3_Splice_Site|SLC6A2_ENST00000566163.1_Splice_Site|SLC6A2_ENST00000567238.1_Splice_Site|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000568943.1_Splice_Site	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2						synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTTCTCTGCAGTTGCAACACT	0.602000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24					2.61681e-11	2.84479e-11	1	1	0
DDX20	11218	broad.mit.edu	37	1	112309372	112309372	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:112309372T>C	ENST00000475700.1	+	3	3508	c.1150T>C	c.(1150-1152)Tac>Cac	p.Y384H	DDX20_ENST00000369702.4_Missense_Mutation_p.Y776H			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	776	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTATGAGGAGTACTGGAGAGC	0.428000													27	41					0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186335009	186335009	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:186335009A>G	ENST00000411641.2	+	4	662	c.443A>G	c.(442-444)gAc>gGc	p.D148G	AHSG_ENST00000273784.5_Missense_Mutation_p.D149G			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	148	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GTGTGCCAAGACTGCCCCCTG	0.642000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	27					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554470	85554470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:85554470C>A	ENST00000377386.3	-	2	847	c.385G>T	c.(385-387)Gag>Tag	p.E129*	TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.E129*|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	129	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										GTCTGCAGCTCCGGATGCGAC	0.582000													94	455					1.15966e-41	1.30263e-41	1	1	0
CASS4	57091	broad.mit.edu	37	20	55026884	55026884	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:55026884G>A	ENST00000371336.3	+	5	853	c.652G>A	c.(652-654)Gtt>Att	p.V218I	CASS4_ENST00000360314.3_Missense_Mutation_p.V218I|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	218					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGGGCAGGGTGTTCCCCTGAT	0.507000													10	22					0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27278055	27278055	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:27278055G>A	ENST00000360131.4	+	6	1001	c.842G>A	c.(841-843)cGt>cAt	p.R281H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R281H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAACCCTCCGTCGCCTCTTC	0.562000													23	74					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636410	73636410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:73636410C>T	ENST00000377687.4	+	2	1209	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Nonsense_Mutation_p.Q134*	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	225					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CCCTACCCAGCAGGGCCACCT	0.453000													6	27					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40392067	40392067	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:40392067G>A	ENST00000221347.6	-	17	8326	c.8319C>T	c.(8317-8319)ttC>ttT	p.F2773F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2773	Cys-rich.|TIL 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTTGTAGAGGAAGCCGGAGT	0.602000													12	58					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85611800	85611800	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:85611800T>C	ENST00000322366.6	-	60	9578	c.9171A>G	c.(9169-9171)gaA>gaG	p.E3057E	WDFY3_ENST00000295888.4_Silent_p.E3074E			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3074						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGACAAGCATTCATAAACAG	0.473000													6	19					0	0	1	0	0
TTYH1	57348	broad.mit.edu	37	19	54942066	54942066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:54942066C>T	ENST00000301194.4	+	9	1137	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	TTYH1_ENST00000391739.3_Missense_Mutation_p.S369L|TTYH1_ENST00000489425.1_3'UTR|AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.Q339*|TTYH1_ENST00000376531.3_Nonsense_Mutation_p.Q339*			Q9H313	TTYH1_HUMAN	tweety family member 1	339					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AGCTGTGCCTCAGTTCCCTTC	0.682000													10	10					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105252536	105252536	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:105252536T>A	ENST00000306107.5	+	5	1047		c.e5+2		ALCAM_ENST00000389927.4_Splice_Site|ALCAM_ENST00000481337.1_Splice_Site|ALCAM_ENST00000472644.2_Splice_Site|ALCAM_ENST00000486979.2_Splice_Site	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGAAGGAGGTGGGTGTGAGG	0.453000													27	44					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20948923	20948923	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:20948923G>T	ENST00000298925.5	+	9	1066	c.913G>T	c.(913-915)Gga>Tga	p.G305*	NELL1_ENST00000532434.1_Nonsense_Mutation_p.G277*|NELL1_ENST00000325319.5_Nonsense_Mutation_p.G220*|NELL1_ENST00000357134.5_Nonsense_Mutation_p.G277*			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	277	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCAAGTGAGTGGACTGCTCTA	0.383000													15	30					1.67942e-08	1.79513e-08	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179399620	179399620	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:179399620A>G	ENST00000367618.3	+	14	1753	c.1366A>G	c.(1366-1368)Aca>Gca	p.T456A	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.T456A	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	456										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCAGAAGTTGACACAAAAATG	0.308000													7	46					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49050875	49050875	+	Nonsense_Mutation	SNP	T	T	A	rs148327780	by1000genomes	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:49050875T>A	ENST00000267163.4	+	25	2697	c.2559T>A	c.(2557-2559)tgT>tgA	p.C853*	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	853	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				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.?(11)		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)	AGATGGTATGTAACAGCGACC	0.373000		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)			7	20					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53215527	53215527	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:53215527C>T	ENST00000394729.2	+	5	772	c.444C>T	c.(442-444)atC>atT	p.I148I	PRKCD_ENST00000330452.3_Silent_p.I148I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	148					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCGGAGCCATCAAACAGGCCA	0.522000													9	28					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698320	48698320	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:48698320T>C	ENST00000544264.1	-	1	2028	c.1748A>G	c.(1747-1749)aAc>aGc	p.N583S	CELSR3_ENST00000164024.4_Missense_Mutation_p.N583S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	583	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGATGATGTTGTAGTGCAC	0.607000													4	8					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160136383	160136383	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:160136383G>A	ENST00000368081.4	+	8	1584	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	371					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCTGGAGGCGGTGGAGACGC	0.592000													12	35					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102584804	102584804	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:102584804A>G	ENST00000339431.4	+	4	1371	c.1076A>G	c.(1075-1077)cAc>cGc	p.H359R	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|LRRC17_ENST00000249377.4_3'UTR	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	359	LRRCT 2.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TACAACATTCACTACCTCTAC	0.393000													14	92					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67796236	67796236	+	Silent	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:67796236A>T	ENST00000492775.1	+	9	1210	c.1080A>T	c.(1078-1080)atA>atT	p.I360I	MCMDC2_ENST00000313616.5_Intron|MCMDC2_ENST00000396592.3_Intron|MCMDC2_ENST00000422365.2_Intron|MCMDC2_ENST00000541540.1_Intron			Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	360					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ACAGGTATATATGTGACATGA	0.323000													16	35					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74289136	74289136	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:74289136T>C	ENST00000253577.3	-	11	1546	c.1522A>G	c.(1522-1524)Agt>Ggt	p.S508G	ABCB7_ENST00000373394.3_Missense_Mutation_p.S507G|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.S467G	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	507	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CCTGACCCACTACCTCCTACA	0.368000													23	59					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868816	174868816	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:174868816G>A	ENST00000393752.2	-	2	2279	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	429					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CCAGAGAGACGTCAGTGTCAT	0.532000													14	79					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	14					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52480082	52480082	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:52480082G>A	ENST00000219746.9	-	5	1014	c.730C>T	c.(730-732)Cca>Tca	p.P244S	TOX3_ENST00000407228.3_Missense_Mutation_p.P239S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	244					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TTTTTCTTTGGAGTCTTGGGC	0.443000													20	31					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103153799	103153799	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:103153799C>T	ENST00000375735.2	+	73	11019	c.10875C>T	c.(10873-10875)gcC>gcT	p.A3625A	DYNC2H1_ENST00000398093.3_Silent_p.A3632A|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3625					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGCTGGGCCGTGGCAACAT	0.353000													7	14					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346831	140346831	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:140346831G>A	ENST00000289269.5	+	1	1012	c.480G>A	c.(478-480)tcG>tcA	p.S160S	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		160	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCGAATCGGTGGCGCCTG	0.617000													7	9					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927113	111927113	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:111927113A>T	ENST00000305815.5	-	16	2150	c.1898T>A	c.(1897-1899)aTa>aAa	p.I633K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I585K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	633	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAACTGGGATATCCAAGAGAT	0.294000													16	83					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38546236	38546236	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:38546236G>A	ENST00000423485.1	-	34	4606	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1483					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418000													4	10					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197063311	197063311	+	Splice_Site	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:197063311C>A	ENST00000367409.4	-	20	9244		c.e20-1		ASPM_ENST00000294732.7_Splice_Site|ASPM_ENST00000367408.1_Splice_Site	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTCAAAAACCTAAAAAGTAG	0.303000													3	34					0.004672	0.00474642	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121668558	121668558	+	Silent	SNP	A	A	G	rs149253942		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:121668558A>G	ENST00000369075.3	+	5	1179	c.1107A>G	c.(1105-1107)gaA>gaG	p.E369E	SEC23IP_ENST00000543134.1_Silent_p.E158E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	369					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TATAGGCTGAATATAAAAAAG	0.368000													4	20					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244618	1244618	+	RNA	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:1244618G>A	ENST00000581398.1	+	0	572				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						TGGACTTGCAGAGCTCAACAG	0.547000													13	30					0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3913785	3913785	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:3913785T>C	ENST00000450849.2	+	9	1363	c.896T>C	c.(895-897)gTg>gCg	p.V299A	ATCAY_ENST00000600960.1_Missense_Mutation_p.V299A|ATCAY_ENST00000301260.6_Missense_Mutation_p.V299A|ATCAY_ENST00000398448.3_Missense_Mutation_p.V305A	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	299	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ATCCAGTACGTGCACAGCTTG	0.582000													5	26					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475748	66475748	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:66475748G>A	ENST00000533211.1	-	12	1545	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	SPTBN2_ENST00000529997.1_Missense_Mutation_p.A405V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A405V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	405					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCGTGCTCCGCCTTCTCCAG	0.682000													15	12					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354619	120354619	+	Silent	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:120354619G>T	ENST00000239032.2	-	2	276	c.138C>A	c.(136-138)gcC>gcA	p.A46A	PRLHR_ENST00000369169.1_Silent_p.A46A	NM_004248.2	NP_004239	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	46					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		AGGGCGTGACGGCTGGAGCGT	0.677000													11	30					1.58986e-06	1.68063e-06	1	1	0
DSG4	147409	broad.mit.edu	37	18	28986105	28986105	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:28986105G>T	ENST00000359747.4	+	12	1731	c.1702G>T	c.(1702-1704)Gtg>Ttg	p.V568L	DSG4_ENST00000308128.4_Missense_Mutation_p.V568L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	568					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCCAATCCTGGTGAAGGACAG	0.453000													13	52					1.05317e-09	1.13632e-09	1	1	0
CPA5	93979	broad.mit.edu	37	7	130008339	130008339	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:130008339T>C	ENST00000431780.2	+	11	1572	c.1127T>C	c.(1126-1128)aTg>aCg	p.M376T	CPA5_ENST00000355388.3_Silent_p.Y404Y|CPA5_ENST00000485477.1_Silent_p.Y404Y|CPA5_ENST00000474905.1_Silent_p.Y404Y|CPA5_ENST00000393213.3_Silent_p.Y404Y|CPA5_ENST00000466363.2_Silent_p.Y404Y|CPA5_ENST00000461828.1_Silent_p.Y404Y	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	0					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTGGGCAGTATGGCTTCCTGC	0.582000													14	76					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123868631	123868631	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:123868631T>C	ENST00000274008.4	+	9	1771	c.1702T>C	c.(1702-1704)Tgt>Cgt	p.C568R	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5					C -> Y (in Ref. 3; BAC03651).	cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAGTCTTGTGTAATGAAGC	0.418000													13	54					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300694	56300694	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:56300694A>C	ENST00000443188.1	-	10	3295	c.2585T>G	c.(2584-2586)cTg>cGg	p.L862R	NLRP11_ENST00000589824.2_Missense_Mutation_p.L808R|NLRP11_ENST00000360133.3_Missense_Mutation_p.L808R|NLRP11_ENST00000592953.1_Missense_Mutation_p.L763R|NLRP11_ENST00000589093.1_Missense_Mutation_p.L862R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	862							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGGCTCCTCAGTTTTTCATT	0.423000													23	89					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128087555	128087555	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:128087555T>C	ENST00000409947.1	-	7	690	c.408A>G	c.(406-408)ctA>ctG	p.L136L	MAP3K2_ENST00000344908.5_Silent_p.L136L			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	136					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CCAAATCTTCTAGTGATGGCA	0.368000													3	39					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466477	56466477	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:56466477C>T	ENST00000291971.3	+	3	1124	c.1053C>T	c.(1051-1053)ctC>ctT	p.L351L	NLRP8_ENST00000590542.1_Silent_p.L351L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	351	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCCCTCTCTCGTAACCCTTC	0.463000													19	54					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225639730	225639730	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:225639730C>T	ENST00000409592.3	-	52	6000	c.5887G>A	c.(5887-5889)Gaa>Aaa	p.E1963K	DOCK10_ENST00000258390.7_Missense_Mutation_p.E1969K			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1969	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGGTGCATTTCGAAATCTGTC	0.532000													11	8					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74514249	74514249	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:74514249G>A	ENST00000422840.2	-	11	1716	c.1717C>T	c.(1717-1719)Cgt>Tgt	p.R573C	GLG1_ENST00000447066.2_Missense_Mutation_p.R562C|GLG1_ENST00000205061.5_Missense_Mutation_p.R573C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	573						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGGCAAAGACGAGAAGCGTCT	0.468000													17	41					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66298390	66298390	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:66298390A>G	ENST00000419755.3	+	15	1688	c.1610A>G	c.(1609-1611)aAg>aGg	p.K537R	BBS1_ENST00000393994.2_Missense_Mutation_p.K371R|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.K403R|BBS1_ENST00000318312.7_Missense_Mutation_p.K500R																							CCCACCTTTAAGCTCACACTT	0.612000													14	53					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	36					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174131126	174131126	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:174131126G>T	ENST00000375213.3	+	20	2129	c.2051G>T	c.(2050-2052)gGt>gTt	p.G684V	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.G684V|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					TATGGACGTGGTAGTATATCA	0.458000													21	30					1.01871e-10	1.10328e-10	1	1	0
ATHL1	80162	broad.mit.edu	37	11	294327	294327	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:294327C>T	ENST00000409548.2	+	13	1984	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	ATHL1_ENST00000409479.1_Silent_p.S650S|ATHL1_ENST00000409655.1_Silent_p.S375S	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	623					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCAGAGTGAGCGTCTCCGGCA	0.617000													23	39					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585243	82585243	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:82585243T>A	ENST00000333891.9	-	5	5363	c.5026A>T	c.(5026-5028)Ata>Tta	p.I1676L	PCLO_ENST00000423517.2_Missense_Mutation_p.I1676L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTATCTGCTATTGTACTGTTG	0.383000													12	44					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44109598	44109598	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:44109598T>C	ENST00000267812.3	-	2	360	c.128A>G	c.(127-129)aAa>aGa	p.K43R		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	43						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GTCTGGCCTTTTTCCGGACAC	0.438000													9	61					0	0	1	0	0
C11orf68	83638	broad.mit.edu	37	11	65685245	65685245	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:65685245G>A	ENST00000438576.2	-	2	652	c.567C>T	c.(565-567)gcC>gcT	p.A189A	C11orf68_ENST00000449692.3_Silent_p.A188A|C11orf68_ENST00000530188.1_Silent_p.A147A			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	147										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CCACGGCCCGGGCAATGCCAG	0.652000													3	28					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22408260	22408260	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:22408260T>C	ENST00000344548.3	+	4	402	c.151T>C	c.(151-153)Tat>Cat	p.Y51H	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.Y51H|CDC42_ENST00000421089.2_Missense_Mutation_p.Y93H|CDC42_ENST00000400259.1_Missense_Mutation_p.Y51H	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	51					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGGAGAACCATATACTCTTGG	0.343000													26	59					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627509	40627509	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:40627509T>C	ENST00000397536.2	-	7	860	c.825A>G	c.(823-825)ccA>ccG	p.P275P	C15orf52_ENST00000559313.1_Silent_p.P485P			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	485										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTCCGGGCTCTGGGAGCCCTG	0.662000													11	48					0	0	1	0	0
RPAIN	84268	broad.mit.edu	37	17	5326096	5326096	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:5326096A>T	ENST00000381209.3	+	3	830	c.260A>T	c.(259-261)gAg>gTg	p.E87V	RPAIN_ENST00000405578.4_Missense_Mutation_p.E87V|RPAIN_ENST00000327154.6_Missense_Mutation_p.E87V|RPAIN_ENST00000381208.5_Missense_Mutation_p.E87V|RPAIN_ENST00000574003.1_Missense_Mutation_p.E87V|RPAIN_ENST00000536255.2_Missense_Mutation_p.E87V	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	87					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGCTGGAGGAGCTGATAGAC	0.478000													12	18					0	0	1	0	0
ALG1L	200810	broad.mit.edu	37	3	125648398	125648398	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:125648398T>A	ENST00000340333.3	-	6	524	c.361A>T	c.(361-363)Aac>Tac	p.N121Y	FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	121							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						TCAGGAAAGTTTGAGAAAAGC	0.557000													3	16					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28059151	28059151	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:28059151G>A	ENST00000373954.6	+	3	286	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	FAM76A_ENST00000419687.2_Missense_Mutation_p.V62M|FAM76A_ENST00000010299.6_Missense_Mutation_p.V96M|FAM76A_ENST00000234549.7_Missense_Mutation_p.V96M|FAM76A_ENST00000373949.1_Missense_Mutation_p.V62M|FAM76A_ENST00000530324.1_Missense_Mutation_p.V62M	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	62										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTCAGAACGTGCAGTTGTA	0.388000													9	36					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20411691	20411691	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:20411691A>G	ENST00000382905.4	-	6	1295	c.1143T>C	c.(1141-1143)gaT>gaC	p.D381D	ZMYM5_ENST00000382907.4_3'UTR|ZMYM5_ENST00000337963.4_Intron	NM_001039650.2	NP_001034739.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	0						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		CATGTTATACATCCAGAACAC	0.299000													45	93					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671318	25671318	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:25671318G>C	ENST00000281589.3	+	1	1019	c.982G>C	c.(982-984)Gaa>Caa	p.E328Q		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	328	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GGTTATGATGGAAGGTGGTCG	0.408000													35	190					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60242455	60242455	+	Silent	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:60242455A>T	ENST00000269499.5	+	13	3559	c.3141A>T	c.(3139-3141)tcA>tcT	p.S1047S	ZCCHC2_ENST00000586834.1_Silent_p.S726S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1047					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAGTCCCTTCATTCTTTACTC	0.458000													6	18					0	0	1	0	0
DLX2	1746	broad.mit.edu	37	2	172965628	172965628	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:172965628C>T	ENST00000234198.4	-	3	991	c.630G>A	c.(628-630)atG>atA	p.M210I	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	210						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CACTTTTCCACATCTTCTTGA	0.572000													14	17					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104390402	104390402	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:104390402G>T	ENST00000330295.5	+	3	662	c.520G>T	c.(520-522)Gct>Tct	p.A174S	CTHRC1_ENST00000520337.1_Missense_Mutation_p.A160S|CTHRC1_ENST00000520880.1_Missense_Mutation_p.A44S	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	174						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCCCATTGAAGCTATAATTTA	0.398000													25	64					6.12954e-19	6.83175e-19	1	1	0
NDUFA7	4701	broad.mit.edu	37	19	8381483	8381483	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:8381483A>G	ENST00000301457.2	-	3	185	c.148T>C	c.(148-150)Tcc>Ccc	p.S50P	NDUFA7_ENST00000598884.1_Missense_Mutation_p.S50P	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	50					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	TAATTGTTGGAGAGCTTGTGG	0.562000													7	36					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95715044	95715044	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:95715044G>C	ENST00000376887.4	-	26	3394	c.3280C>G	c.(3280-3282)Ccc>Gcc	p.P1094A	ABCC4_ENST00000412704.1_Missense_Mutation_p.P1047A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1094	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTACCTTCGGGTTCTGACAAT	0.418000													13	29					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29528136	29528136	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:29528136T>C	ENST00000358273.4	+	10	1527	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	NF1_ENST00000431387.4_Missense_Mutation_p.S382P|NF1_ENST00000356175.3_Missense_Mutation_p.S382P	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	382					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTTGTTTCTTGCTTTCG	0.378000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			25	35					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94004546	94004546	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:94004546C>A	ENST00000553484.1	+	12	1488	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	UNC79_ENST00000256339.4_Missense_Mutation_p.A268D|UNC79_ENST00000555664.1_Missense_Mutation_p.A445D|UNC79_ENST00000393151.2_Missense_Mutation_p.A445D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	445						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGGTCTGCGCCGTGGAAGCC	0.567000													3	7					0.004672	0.00474642	1	1	0
TBX22	50945	broad.mit.edu	37	X	79283516	79283516	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:79283516C>A	ENST00000442340.1	+	8	1020	c.530C>A	c.(529-531)aCc>aAc	p.T177N	TBX22_ENST00000373296.3_Missense_Mutation_p.T297N|TBX22_ENST00000373291.1_Missense_Mutation_p.T177N|TBX22_ENST00000373294.5_Missense_Mutation_p.T297N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	297					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTTTTAGAGACCTACCCATGG	0.363000													13	46					1.49906e-05	1.57593e-05	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47581662	47581662	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:47581662T>C	ENST00000285039.7	-	2	413	c.114A>G	c.(112-114)ctA>ctG	p.L38L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	38	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAGCTGTAGGCTCTTGT	0.552000													7	27					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95294101	95294101	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:95294101A>G	ENST00000271227.6	+	5	570	c.468A>G	c.(466-468)ccA>ccG	p.P156P	SLC44A3_ENST00000532427.1_Silent_p.P76P|SLC44A3_ENST00000529450.1_Silent_p.P124P|SLC44A3_ENST00000467909.1_Silent_p.P108P|SLC44A3_ENST00000527077.1_Silent_p.P88P|SLC44A3_ENST00000446120.2_Silent_p.P120P|SLC44A3_ENST00000530397.1_3'UTR	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	156						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	CCCACAGTCCAAAAGCAGACT	0.433000													17	62					0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90463714	90463714	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:90463714G>C	ENST00000370447.3	+	2	182		c.e2+1		ZNF326_ENST00000361911.5_Splice_Site|ZNF326_ENST00000340281.4_Splice_Site|ZNF326_ENST00000455342.2_Splice_Site			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGCTTTAATGGTAAGTATCCT	0.343000													4	40					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43570530	43570530	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:43570530T>G	ENST00000216129.6	-	7	1072	c.1009A>C	c.(1009-1011)Aac>Cac	p.N337H	TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	337	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGTGAGAAGTTGAAGAGGATG	0.657000													17	14					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571499	155571499	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:155571499T>C	ENST00000392845.3	-	1	668	c.288A>G	c.(286-288)ccA>ccG	p.P96P	SLC33A1_ENST00000359479.3_Silent_p.P96P			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAAAATGAGTGGGATGCTTC	0.483000													11	51					0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38421195	38421195	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:38421195G>T	ENST00000323571.4	+	5	1007	c.767G>T	c.(766-768)cGc>cTc	p.R256L	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.R256L|WIPF2_ENST00000583130.1_Missense_Mutation_p.R256L|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	256						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCGCCTTACCGCCAGCCTCCT	0.592000										HNSCC(43;0.11)			11	86					3.07112e-06	3.24048e-06	1	1	0
OMD	4958	broad.mit.edu	37	9	95178993	95178993	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:95178993A>G	ENST00000375550.4	-	2	1123	c.848T>C	c.(847-849)gTa>gCa	p.V283A	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	283					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ACTGAGTTCTACAATGTTGGG	0.313000			T	USP6	aneurysmal bone cysts								24	31					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82433870	82433870	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:82433870A>G	ENST00000370728.1	+	16	3143	c.2498A>G	c.(2497-2499)cAc>cGc	p.H833R	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.H833R|LPHN2_ENST00000370727.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370717.2_Missense_Mutation_p.H833R|LPHN2_ENST00000370723.1_Missense_Mutation_p.H820R|LPHN2_ENST00000319517.6_Missense_Mutation_p.H820R|LPHN2_ENST00000359929.3_Missense_Mutation_p.H820R|LPHN2_ENST00000370730.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370715.1_Missense_Mutation_p.H820R|LPHN2_ENST00000335786.5_Missense_Mutation_p.H833R|LPHN2_ENST00000370713.1_Missense_Mutation_p.H820R|LPHN2_ENST00000394879.1_Missense_Mutation_p.H820R|LPHN2_ENST00000370725.1_Missense_Mutation_p.H833R|LPHN2_ENST00000370721.1_Missense_Mutation_p.H758R			O95490	LPHN2_HUMAN	latrophilin 2	833	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTCATGGCCCACAGGGAAATT	0.423000													8	60					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56205221	56205221	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:56205221A>T	ENST00000361673.3	-	5	2411	c.2198T>A	c.(2197-2199)tTc>tAc	p.F733Y	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	733							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTCTTCCCTGAAATTGTCAGG	0.468000													34	73					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209352	50209352	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:50209352C>G	ENST00000392518.4	+	11	1523	c.1151C>G	c.(1150-1152)gCt>gGt	p.A384G	CPT1C_ENST00000598293.1_Missense_Mutation_p.A384G|CPT1C_ENST00000405931.2_Missense_Mutation_p.A373G|CPT1C_ENST00000323446.5_Missense_Mutation_p.A384G|CPT1C_ENST00000354199.5_Missense_Mutation_p.A384G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	384					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTCTGACAGCTGCTCCCAGG	0.652000													7	11					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15228701	15228701	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:15228701C>A	ENST00000263383.3	-	10	1316	c.1177G>T	c.(1177-1179)Gct>Tct	p.A393S	ILVBL_ENST00000534378.1_Missense_Mutation_p.A286S	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	393						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCCTGCACAGCCTCCTGGGGC	0.557000													6	31					0.00198382	0.00202618	1	1	0
IGLV2-11	28816	broad.mit.edu	37	22	23135485	23135485	+	RNA	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:23135485A>G	ENST00000390314.2	+	0	389																											GCAGGCAGCTACACTTTCCAC	0.557000													28	55					0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106185963	106185963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:106185963C>A	ENST00000355610.4	-	15	2432	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	MORC4_ENST00000535534.1_Nonsense_Mutation_p.E468*|MORC4_ENST00000255495.7_Nonsense_Mutation_p.E720*	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	720							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTTCGTCTCTCAGCAAGCTCC	0.502000													36	79					1.42033e-22	1.58613e-22	1	1	0
BARD1	580	broad.mit.edu	37	2	215593707	215593707	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:215593707T>C	ENST00000260947.4	-	11	2161	c.2027A>G	c.(2026-2028)tAc>tGc	p.Y676C	BARD1_ENST00000449967.2_Missense_Mutation_p.T531A|BARD1_ENST00000432456.1_Missense_Mutation_p.Y47C	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	676	BRCT 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAAATAGAAGTAGCATCCATC	0.408000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				14	10					0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44567648	44567648	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:44567648G>A	ENST00000372409.3	+	3	374	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	4						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GATGGCCAATGAGAATCACGG	0.612000													6	38					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70279289	70279289	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:70279289C>G	ENST00000346329.3	+	15	1546	c.1238C>G	c.(1237-1239)gCc>gGc	p.A413G	CTTN_ENST00000538675.1_Missense_Mutation_p.A134G|CTTN_ENST00000301843.8_Missense_Mutation_p.A450G|CTTN_ENST00000376561.3_Missense_Mutation_p.A413G	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	450						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGCATGGAGGCCGCTGACTAC	0.647000													7	18					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587814	110587814	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:110587814C>T	ENST00000399066.3	-	6	2031	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	SYBU_ENST00000424158.2_Missense_Mutation_p.S443N|SYBU_ENST00000533895.1_Missense_Mutation_p.S437N|SYBU_ENST00000528331.1_Missense_Mutation_p.S319N|SYBU_ENST00000446070.2_Missense_Mutation_p.S437N|SYBU_ENST00000528647.1_Missense_Mutation_p.S437N|SYBU_ENST00000533065.1_Missense_Mutation_p.S319N|SYBU_ENST00000440310.1_Missense_Mutation_p.S438N|SYBU_ENST00000408889.3_Missense_Mutation_p.S319N|SYBU_ENST00000532779.1_Missense_Mutation_p.S370N|SYBU_ENST00000276646.9_Missense_Mutation_p.S438N|SYBU_ENST00000433638.1_Missense_Mutation_p.S438N|SYBU_ENST00000419099.1_Missense_Mutation_p.S437N|SYBU_ENST00000529175.1_Missense_Mutation_p.S232N|SYBU_ENST00000529690.1_Missense_Mutation_p.S308N|SYBU_ENST00000533171.1_Missense_Mutation_p.S438N|SYBU_ENST00000422135.1_Missense_Mutation_p.S438N|SYBU_ENST00000408908.2_Missense_Mutation_p.S438N	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	438						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CAAATCTGTGCTGTTGGCTAT	0.557000													17	35					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251767	114251767	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:114251767A>G	ENST00000371936.1	-	3	315	c.66T>C	c.(64-66)tgT>tgC	p.C22C	IL13RA2_ENST00000243213.1_Silent_p.C22C|IL13RA2_ENST00000468224.1_5'UTR			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	22						extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AAGATGAAGTACAGCCAAATG	0.318000													23	94					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590889	40590889	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:40590889T>C	ENST00000260402.3	-	10	1120	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	PLCB2_ENST00000557821.1_Missense_Mutation_p.M291V|PLCB2_ENST00000456256.2_Missense_Mutation_p.M291V	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	291					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AACCAGACCATGCCTTCAGGT	0.587000													4	9					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528870	228528870	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:228528870C>T	ENST00000570156.2	+	84	20717	c.20643C>T	c.(20641-20643)ctC>ctT	p.L6881L	OBSCN_ENST00000422127.1_Silent_p.L5924L|OBSCN_ENST00000366707.4_Silent_p.L3558L|OBSCN_ENST00000284548.11_Silent_p.L5924L|OBSCN_ENST00000366709.4_Silent_p.L3043L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5924					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGTTCCTCTTCCGCAACC	0.647000													7	24					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63092086	63092086	+	Silent	SNP	T	T	A	rs145903425		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:63092086T>A	ENST00000263991.5	+	10	1565	c.1083T>A	c.(1081-1083)acT>acA	p.T361T	EHBP1_ENST00000405015.3_Silent_p.T326T|EHBP1_ENST00000431489.1_Silent_p.T326T|EHBP1_ENST00000405289.1_Silent_p.T326T|EHBP1_ENST00000354487.3_Silent_p.T326T	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	361						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTTCTAAAACTGAAGAAGAAG	0.348000													13	41					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57931275	57931275	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:57931275A>G	ENST00000307658.7	+	4	684	c.421A>G	c.(421-423)Agt>Ggt	p.S141G	AC003002.6_ENST00000596400.1_Missense_Mutation_p.S151G|AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.S139G			P17021	ZNF17_HUMAN	zinc finger protein 17	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGTGAATGACAGTGTTCACCT	0.493000													11	76					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034181	52034181	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:52034181C>A	ENST00000346477.3	-	3	528	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.G154W|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.G154W|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.G118W|SIGLEC6_ENST00000391797.3_Splice_Site|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.G154W	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	154	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCCAGGGTCCCTGGGATGGAG	0.637000													9	68					2.74318e-10	2.96532e-10	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89036193	89036193	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:89036193A>G	ENST00000237612.3	-	8	1404	c.859T>C	c.(859-861)Tat>Cat	p.Y287H	ABCG2_ENST00000515655.1_Missense_Mutation_p.Y287H	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	287					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GGGTTATTATAGGCCTCACAG	0.398000													16	35					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208216442	208216442	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:208216442C>T	ENST00000367033.3	-	21	4738	c.3981G>A	c.(3979-3981)ccG>ccA	p.P1327P		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1327					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGATGCCCGGGAACAGGA	0.602000													11	22					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792940	143792940	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:143792940T>C	ENST00000408949.2	+	1	800	c.740T>C	c.(739-741)gTg>gCg	p.V247A		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCTGCGTGGTGGGGCTTTTC	0.552000													25	137					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262102	1262102	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:1262102G>A	ENST00000348261.5	+	25	4971	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1575K|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1575K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1575					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCGAGAGGAGAAGCGGCT	0.692000													17	40					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41349105	41349105	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:41349105A>G	ENST00000422280.1	+	16	2467	c.2008A>G	c.(2008-2010)Aga>Gga	p.R670G	NBR1_ENST00000589872.1_Missense_Mutation_p.R670G|NBR1_ENST00000389312.4_Missense_Mutation_p.R670G|NBR1_ENST00000542611.1_Missense_Mutation_p.R649G|NBR1_ENST00000590996.1_Missense_Mutation_p.R670G|NBR1_ENST00000341165.6_Missense_Mutation_p.R670G	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	670					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CCCTCCTTGCAGACAGAAGTC	0.522000													10	13					0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39224404	39224404	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:39224404G>C	ENST00000328867.4	-	18	2204	c.1896C>G	c.(1894-1896)ttC>ttG	p.F632L	CAPN12_ENST00000601953.1_Missense_Mutation_p.F483L	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	632	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TGTCCTCATCGAACTTGTTAA	0.602000													13	17					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230650504	230650504	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:230650504C>A	ENST00000283943.5	-	33	5016	c.4838G>T	c.(4837-4839)cGg>cTg	p.R1613L	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1661L|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1343L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1613					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.R1613Q(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAACATGGCCCGTGAGCTGCC	0.448000													21	38					1.55795e-14	1.71973e-14	1	1	0
PRX	57716	broad.mit.edu	37	19	40901511	40901511	+	Silent	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:40901511C>A	ENST00000324001.7	-	7	3018	c.2748G>T	c.(2746-2748)ggG>ggT	p.G916G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	916					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTCCAGCCGCCCTTCCTCAA	0.577000													34	68					4.11147e-13	4.50379e-13	1	1	0
ATXN3	4287	broad.mit.edu	37	14	92563113	92563113	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:92563113C>T	ENST00000545170.1	-	2	162	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ATXN3_ENST00000429774.2_Missense_Mutation_p.E32K|ATXN3_ENST00000393287.5_Missense_Mutation_p.E32K|ATXN3_ENST00000503767.1_Missense_Mutation_p.E32K|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000532032.1_Missense_Mutation_p.E32K|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	32	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		GAGGATAATTCCACAGGGCTA	0.383000													18	67					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440399	145440399	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:145440399A>G	ENST00000369317.4	+	5	1039	c.705A>G	c.(703-705)tcA>tcG	p.S235S	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	235					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAGTTGTCATCAGTCAGAG	0.522000													28	56					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80730340	80730340	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:80730340G>C	ENST00000355528.4	+	6	725	c.595G>C	c.(595-597)Gtc>Ctc	p.V199L	TBCD_ENST00000539345.2_Missense_Mutation_p.V199L|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	199					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTACTTGATTGTCAGTGACAA	0.557000													32	209					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157892047	157892047	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:157892047G>A	ENST00000502773.1	-	1	499	c.9C>T	c.(7-9)ctC>ctT	p.L3L	PDGFC_ENST00000422544.2_Silent_p.L3L|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	3					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GAAGCCCGAAGAGGCTCATTT	0.592000											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112989720	112989720	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:112989720A>T	ENST00000495514.1	+	6	1300	c.596A>T	c.(595-597)aAg>aTg	p.K199M	BOC_ENST00000355385.3_Missense_Mutation_p.K199M|BOC_ENST00000273395.4_Missense_Mutation_p.K199M			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	199	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCATGTACAAGTGTGCAGCC	0.607000													14	75					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106062002	106062002	+	Splice_Site	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:106062002T>A	ENST00000357242.5	+	2	414	c.240T>A	c.(238-240)tgT>tgA	p.C80*	TBC1D8B_ENST00000276175.3_Splice_Site_p.C80*|TBC1D8B_ENST00000481617.2_Splice_Site_p.C80*|TBC1D8B_ENST00000310452.2_Splice_Site_p.C80*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	80						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAATTGCATGTGGTGAGTATG	0.338000													27	55					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56348478	56348478	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:56348478A>T	ENST00000348428.3	+	2	544	c.286A>T	c.(286-288)Atg>Ttg	p.M96L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.M96L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	96	Death.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GCTGAAGTTAATGGGTGAAAA	0.478000			T	BIRC3	MALT								9	53					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20444282	20444282	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:20444282A>G	ENST00000222573.4	+	11	2403	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q	ITGB8_ENST00000537992.1_Silent_p.Q438Q	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGATGCCAATGCTTCAGTG	0.527000													6	16					0	0	1	0	0
CSN1S1	1446	broad.mit.edu	37	4	70799954	70799954	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:70799954C>A	ENST00000246891.4	+	3	125	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	CSN1S1_ENST00000505782.1_Missense_Mutation_p.R26S|CSN1S1_ENST00000507772.1_Missense_Mutation_p.R26S|CSN1S1_ENST00000444405.3_Missense_Mutation_p.R26S|CSN1S1_ENST00000507763.1_Missense_Mutation_p.R26S	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	26						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ATACCCAGAACGCCTTCAGGT	0.338000													8	41					2.17888e-05	2.28643e-05	1	1	0
PLAUR	5329	broad.mit.edu	37	19	44156405	44156405	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:44156405A>G	ENST00000221264.4	-	5	1017	c.591T>C	c.(589-591)aaT>aaC	p.N197N	PLAUR_ENST00000340093.3_Silent_p.N242N|PLAUR_ENST00000601723.1_Intron|PLAUR_ENST00000339082.3_Silent_p.N242N	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	242	UPAR/Ly6 2.				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCAGACATTGATTCATGGGGC	0.577000											OREG0025532	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52238888	52238888	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:52238888T>G	ENST00000394965.2	+	6	1117	c.757T>G	c.(757-759)Tac>Gac	p.Y253D	ALAS1_ENST00000484952.1_Missense_Mutation_p.Y253D|ALAS1_ENST00000310271.2_Missense_Mutation_p.Y253D|ALAS1_ENST00000469224.1_Missense_Mutation_p.Y253D	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	253					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTAATGACTACCTAGGAAT	0.468000													19	27					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32332915	32332915	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:32332915A>T	ENST00000375200.1	+	3	514	c.149A>T	c.(148-150)gAg>gTg	p.E50V	ZNF341_ENST00000342427.2_Missense_Mutation_p.E50V	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCAGATGACGAGGATGTATTT	0.507000													15	24					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933237	48933237	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:48933237A>T	ENST00000356463.3	-	9	1133	c.695T>A	c.(694-696)cTg>cAg	p.L232Q	AF196779.12_ENST00000376358.3_Missense_Mutation_p.L129Q|WDR45_ENST00000376372.3_Missense_Mutation_p.L231Q|WDR45_ENST00000485908.1_Missense_Mutation_p.L196Q|WDR45_ENST00000322995.8_Missense_Mutation_p.L242Q|WDR45_ENST00000553851.1_Missense_Mutation_p.L129Q|WDR45_ENST00000473974.1_Missense_Mutation_p.L231Q|WDR45_ENST00000376368.2_Missense_Mutation_p.L232Q|WDR45_ENST00000396681.4_Missense_Mutation_p.L231Q	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	231					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GCCTCGGCGCAGCTCCACCAG	0.572000													3	25					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117815188	117815188	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:117815188T>C	ENST00000276204.6	+	50	5913	c.5839T>C	c.(5839-5841)Ttg>Ctg	p.L1947L	DOCK11_ENST00000276202.7_Silent_p.L1947L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1947	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAACTTAAATTGCAGGGCTG	0.403000													17	75					0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	51050454	51050454	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:51050454A>G	ENST00000396153.2	-	10	1321	c.870T>C	c.(868-870)gaT>gaC	p.D290D	FAF1_ENST00000371778.4_Silent_p.D290D|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000545823.1_Silent_p.D48D	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	290					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CTCCATCGCTATCACTAACCA	0.368000													16	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061380	9061380	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:9061380G>C	ENST00000397910.4	-	3	26269	c.26066C>G	c.(26065-26067)aCa>aGa	p.T8689R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGTTGATGTGGAAACACT	0.478000													9	34					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12446339	12446339	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:12446339C>T	ENST00000358136.3	+	60	11710	c.11580C>T	c.(11578-11580)caC>caT	p.H3860H	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.H3835H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3859					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCAATGTGCACTATACACAGC	0.438000													18	52					0	0	1	0	0
CA7	766	broad.mit.edu	37	16	66881028	66881028	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:66881028C>T	ENST00000338437.2	+	2	245	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	CA7_ENST00000394069.3_5'UTR|RP11-61A14.1_ENST00000551187.1_RNA	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	46					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CTCTCCCAGCCTGCAACCACT	0.552000													3	14					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812331	75812331	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:75812331G>A	ENST00000322507.8	-	56	8706	c.8397C>T	c.(8395-8397)ctC>ctT	p.L2799L	COL12A1_ENST00000345356.6_Silent_p.L1635L|COL12A1_ENST00000416123.2_Silent_p.L2723L|COL12A1_ENST00000483888.2_Silent_p.L2799L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2799	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCGGAATAGAGAGTCCATTGG	0.478000													11	11					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043653	184043653	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:184043653C>T	ENST00000342981.4	+	20	3553	c.3139C>T	c.(3139-3141)Ctt>Ttt	p.L1047F	EIF4G1_ENST00000434061.2_Missense_Mutation_p.L851F|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L882F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1053F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1007F|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1046F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1053F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L960F|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L850F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1006F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1053F|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1046F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L959F|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L883F	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1046	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGACTTCCCCTTGTGGATGA	0.552000													49	99					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074148	9074148	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:9074148C>A	ENST00000397910.4	-	3	13501	c.13298G>T	c.(13297-13299)aGc>aTc	p.S4433I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4435	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGACCTTTGCTTATGAGAGT	0.488000													16	65					4.7546e-09	5.1012e-09	1	1	0
TFRC	7037	broad.mit.edu	37	3	195794479	195794479	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:195794479T>C	ENST00000360110.4	-	9	1119	c.950A>G	c.(949-951)aAt>aGt	p.N317S	TFRC_ENST00000392396.3_Missense_Mutation_p.N317S|TFRC_ENST00000420415.1_Missense_Mutation_p.N236S|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.N35S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	317					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CTGAGTGTGATTGAAGGAAGG	0.453000			T	BCL6	NHL								8	36					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66839882	66839882	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:66839882A>G	ENST00000379463.2	-	19	1552	c.1360T>C	c.(1360-1362)Tgt>Cgt	p.C454R	NAE1_ENST00000359087.4_Missense_Mutation_p.C463R|NAE1_ENST00000394074.2_Missense_Mutation_p.C371R|NAE1_ENST00000290810.3_Missense_Mutation_p.C460R	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	460					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	CCAGTGAGACAAGACTTCAAC	0.308000													46	84					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058527	5058527	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:5058527C>T	ENST00000251170.7	+	14	1858	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	560	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCGCCCAGGCTGGGCGCCCG	0.652000													11	24					0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16857987	16857987	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:16857987G>A	ENST00000380122.5	+	9	1257	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	TXLNG_ENST00000398155.4_Nonsense_Mutation_p.W267*|TXLNG_ENST00000485153.1_3'UTR	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	399					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ACAATAATTTGGCGTACCAAA	0.373000													25	62					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771731	24771731	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:24771731C>T	ENST00000221166.5	+	1	1207	c.425C>T	c.(424-426)tCg>tTg	p.S142L	NEFM_ENST00000518131.1_Missense_Mutation_p.S142L|NEFM_ENST00000437366.2_Missense_Mutation_p.S142L|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	142	Linker 1.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAGCAGGCCTCGCACGCCCAG	0.632000													5	5					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418897	20418897	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:20418897C>T	ENST00000222573.4	+	4	1296	c.612C>T	c.(610-612)ccC>ccT	p.P204P	ITGB8_ENST00000537992.1_Silent_p.P69P	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCATCCACCCCGAAAGGATTC	0.338000													14	50					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230587	147230587	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:147230587A>T	ENST00000271348.2	-	2	921	c.760T>A	c.(760-762)Tct>Act	p.S254T	GJA5_ENST00000369237.1_Missense_Mutation_p.S254T	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	254					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATGCCCACAGAGGGGCCAGAA	0.537000													13	56					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105153032	105153032	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:105153032G>A	ENST00000428173.2	+	13	1705	c.1402G>A	c.(1402-1404)Gca>Aca	p.A468T	NRK_ENST00000243300.9_Missense_Mutation_p.A467T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	467	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCAGATTAAGGCACCTCCACG	0.547000										HNSCC(51;0.14)			10	12					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	74					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24567720	24567720	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:24567720G>C	ENST00000398319.2	+	34	6182	c.5797G>C	c.(5797-5799)Gac>Cac	p.D1933H	CABIN1_ENST00000263119.5_Missense_Mutation_p.D1933H|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.D358H|CABIN1_ENST00000405822.2_Missense_Mutation_p.D1854H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1933					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCACCCCAAAGACAGCCGAGA	0.617000													14	34					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79896509	79896509	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:79896509T>A	ENST00000438737.2	-	21	3349	c.2909A>T	c.(2908-2910)gAa>gTa	p.E970V	RBM26_ENST00000267229.7_Missense_Mutation_p.E943V|RBM26_ENST00000438724.1_Missense_Mutation_p.E946V			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	970					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCAACTTCTTCTGTTTCAAC	0.333000													9	69					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45928984	45928984	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:45928984G>A	ENST00000348697.2	+	6	733	c.586G>A	c.(586-588)Gag>Aag	p.E196K	FBLN1_ENST00000327858.6_Missense_Mutation_p.E196K|FBLN1_ENST00000262722.7_Missense_Mutation_p.E196K|FBLN1_ENST00000402984.3_Missense_Mutation_p.E234K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E196K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E196K			P23142	FBLN1_HUMAN	fibulin 1	196	EGF-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CACGGGTGACGAGGTGGTCTG	0.632000													12	14					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512818	75512818	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:75512818G>A	ENST00000332272.4	-	3	1088	c.909C>T	c.(907-909)atC>atT	p.I303I	CHST6_ENST00000390664.2_Silent_p.I303I|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	303					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATGTTATGGATCCAGGCCT	0.647000													13	35					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265344	42265344	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:42265344C>T	ENST00000199764.6	+	3	830	c.612C>T	c.(610-612)agC>agT	p.S204S	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	204	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CTCTACTCAGCGTCAAAAGGA	0.527000													72	144					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110344424	110344424	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:110344424G>A	ENST00000312777.5	+	5	718	c.504G>A	c.(502-504)atG>atA	p.M168I	TCHP_ENST00000405876.4_Missense_Mutation_p.M168I	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	168	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						CTTGGGAAATGCAGAAAGAAG	0.483000													4	17					0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756426	248756426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:248756426G>T	ENST00000330500.2	-	1	674	c.644C>A	c.(643-645)tCa>tAa	p.S215*		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAAGACACTGAAATGACCGT	0.458000													11	67					3.86212e-05	4.03065e-05	1	1	0
BPI	671	broad.mit.edu	37	20	36937449	36937449	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:36937449A>G	ENST00000262865.4	+	3	464	c.375A>G	c.(373-375)caA>caG	p.Q125Q	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	125					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGAAGGCACAAAAGAGATTCT	0.488000													13	47					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92920265	92920265	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:92920265G>A	ENST00000532405.1	+	11	1128	c.902G>A	c.(901-903)gGc>gAc	p.G301D	SLC24A4_ENST00000531433.1_Missense_Mutation_p.G282D|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G237D|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000298877.1_Missense_Mutation_p.G284D|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G265D			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	301						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CCACAGTATGGCAAGAACCCC	0.522000													3	36					0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037139	44037139	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:44037139G>A	ENST00000372712.2	+	2	613	c.32G>A	c.(31-33)cGc>cAc	p.R11H	DBNDD2_ENST00000372722.3_Missense_Mutation_p.R11H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.R11H|DBNDD2_ENST00000372723.3_Missense_Mutation_p.R11H|DBNDD2_ENST00000360981.4_Missense_Mutation_p.R11H|DBNDD2_ENST00000372710.3_Missense_Mutation_p.R113H|DBNDD2_ENST00000372720.3_Missense_Mutation_p.R109H|DBNDD2_ENST00000372717.1_Missense_Mutation_p.R11H|SYS1-DBNDD2_ENST00000452133.1_3'UTR			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	109					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCCTGGAGCGCCAGCAGCTC	0.557000													19	37					0	0	1	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439743	51439743	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:51439743G>A	ENST00000262662.1	+	4	2342	c.308G>A	c.(307-309)gGg>gAg	p.G103E	CDKN2C_ENST00000371761.3_Missense_Mutation_p.G103E|CDKN2C_ENST00000396148.1_Missense_Mutation_p.G103E			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	103					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GATAATGAAGGGAACCTGCCC	0.532000			D		"""glioma, MM"""								9	31					0	0	1	0	0
FAM81A	145773	broad.mit.edu	37	15	59808884	59808884	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:59808884T>A	ENST00000288228.5	+	8	1014	c.827T>A	c.(826-828)aTg>aAg	p.M276K		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	276										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CTCAGCCAGATGTCAGCCAGG	0.448000													7	16					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													3	37					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71640936	71640936	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:71640936G>A	ENST00000226328.4	+	7	1373	c.810G>A	c.(808-810)ctG>ctA	p.L270L	RUFY3_ENST00000381006.3_Silent_p.L270L|RUFY3_ENST00000417478.2_Silent_p.L330L|RUFY3_ENST00000536664.1_Silent_p.L254L|RUFY3_ENST00000502653.1_Silent_p.L217L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	270					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TAGAAGAACTGAACAGACATT	0.343000													20	87					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35646888	35646888	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:35646888G>A	ENST00000440995.2	+	5	705	c.705G>A	c.(703-705)atG>atA	p.M235I	SPEF2_ENST00000509059.1_Missense_Mutation_p.M235I|SPEF2_ENST00000282469.6_Missense_Mutation_p.M235I|SPEF2_ENST00000356031.3_Missense_Mutation_p.M235I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	235					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAATGATGAAAAAGAAAA	0.343000													13	117					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163027	141163027	+	Silent	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:141163027A>C	ENST00000514251.1	+	4	2076	c.1797A>C	c.(1795-1797)gcA>gcC	p.A599A	ZBTB38_ENST00000441582.2_Silent_p.A599A|ZBTB38_ENST00000321464.5_Silent_p.A600A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	599					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATGAGTCTGCACCTGGTACCT	0.433000													29	47					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190927242	190927242	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:190927242A>G	ENST00000260950.4	-	1	213	c.81T>C	c.(79-81)agT>agC	p.S27S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	27					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTTTTTGCTCACTGTTCTCAT	0.338000													42	76					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105463582	105463582	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:105463582C>T	ENST00000351513.2	-	2	447	c.315G>A	c.(313-315)caG>caA	p.Q105Q		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	105					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCCACCTTTCTGAGGAATGG	0.488000													6	23					0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986228	42986228	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:42986228A>G	ENST00000326974.4	+	6	862	c.667A>G	c.(667-669)Act>Gct	p.T223A	KLHDC3_ENST00000244670.8_Missense_Mutation_p.T89A|KLHDC3_ENST00000332245.8_Missense_Mutation_p.T164A	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	223					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGACACCAGAACTGAGGCTTG	0.562000													52	38					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153047009	153047009	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:153047009C>T	ENST00000489426.1	+	9	2807	c.441C>T	c.(439-441)caC>caT	p.H147H	SRPK3_ENST00000370104.1_Silent_p.H80H|SRPK3_ENST00000393786.3_Silent_p.H80H|SRPK3_ENST00000370100.1_Silent_p.H38H|SRPK3_ENST00000370108.3_Silent_p.H80H|SRPK3_ENST00000370101.3_Silent_p.H80H			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	80	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity	p.H80H(1)|p.H147H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGTACCACGTGGTGCGCA	0.657000													10	13					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58971754	58971754	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:58971754T>C	ENST00000371226.3	-	8	1456	c.1343A>G	c.(1342-1344)tAc>tGc	p.Y448C	OMA1_ENST00000358603.2_Missense_Mutation_p.Y448C|DAB1_ENST00000485760.1_5'UTR	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	448					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TCTATCCAAGTACTCAACTCG	0.428000													18	32					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5238879	5238879	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:5238879C>G	ENST00000380448.1	+	3	302	c.49C>G	c.(49-51)Ccc>Gcc	p.P17A	AKR1C4_ENST00000263126.1_Missense_Mutation_p.P17A|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	17					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TCACTTCATGCCCGTATTGGG	0.428000													30	68					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42436766	42436766	+	Silent	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:42436766G>T	ENST00000397272.3	-	17	1954	c.1863C>A	c.(1861-1863)tcC>tcA	p.S621S	PLA2G4F_ENST00000382396.4_Silent_p.S619S	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	619	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCACAGCCTGGGAGAAGGGCC	0.612000													5	23					0.00198382	0.00202618	1	1	0
LRBA	987	broad.mit.edu	37	4	151773618	151773618	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:151773618T>C	ENST00000535741.1	-	23	3717	c.3244A>G	c.(3244-3246)Ata>Gta	p.I1082V	LRBA_ENST00000357115.3_Missense_Mutation_p.I1082V|LRBA_ENST00000510413.1_Missense_Mutation_p.I1082V|LRBA_ENST00000507224.1_Missense_Mutation_p.I1082V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1082						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAGAACTTATAGAAGCAGTT	0.368000													14	43					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334821	21334821	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:21334821G>A	ENST00000359039.4	-	1	558	c.38C>T	c.(37-39)tCt>tTt	p.S13F	KLHL9_ENST00000537938.1_Intron			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	13					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CAAATGGGCAGAGACGCCCAT	0.453000													10	32					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96800058	96800058	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:96800058C>T	ENST00000359933.4	-	8	2067	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	392										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GTTTCTGTCTCATAAAAGCTT	0.373000													18	51					0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2062800	2062800	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:2062800A>G	ENST00000423729.2	+	2	452	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	NAT8L_ENST00000331662.3_5'UTR	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	151	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGCGCTACTACTACAGCCGC	0.697000													3	12					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10190617	10190617	+	Silent	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:10190617G>T	ENST00000377157.3	+	12	2081	c.1020G>T	c.(1018-1020)ctG>ctT	p.L340L	UBE4B_ENST00000343090.6_Silent_p.L585L|UBE4B_ENST00000253251.8_Silent_p.L456L|UBE4B_ENST00000475795.1_3'UTR	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	585					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GGCGGGAGCTGCAGAGACTCT	0.488000													62	120					4.88506e-25	5.46593e-25	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25783923	25783923	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:25783923A>G	ENST00000399878.3	-	15	2520	c.2398T>C	c.(2398-2400)Tac>Cac	p.Y800H	SEL1L3_ENST00000502949.1_Missense_Mutation_p.Y647H|SEL1L3_ENST00000264868.5_Missense_Mutation_p.Y765H	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	800						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCAAGATTGTATGACGCATCT	0.458000													41	94					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144844193	144844193	+	Silent	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:144844193A>T	ENST00000367545.3	+	40	5775	c.5775A>T	c.(5773-5775)gcA>gcT	p.A1925A		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1925					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCAGATTGCAGTCATTCATG	0.378000													16	28					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150321667	150321667	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:150321667A>C	ENST00000324862.6	+	15	2043	c.1878A>C	c.(1876-1878)aaA>aaC	p.K626N	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K577N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	626					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTGAAGAAAACCAACAAAT	0.358000													27	59					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019292	166019292	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:166019292A>G	ENST00000360093.3	-	8	1232	c.741T>C	c.(739-741)ctT>ctC	p.L247L	SCN3A_ENST00000409101.3_Silent_p.L247L|SCN3A_ENST00000283254.7_Silent_p.L247L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	247						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCACATCAGAAAGCTTCTTTA	0.468000													14	70					0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190426706	190426706	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:190426706A>T	ENST00000261024.2	-	8	2040	c.1614T>A	c.(1612-1614)taT>taA	p.Y538*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	538					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CAAATCGGAAATACATAATGT	0.418000													12	23					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21842333	21842333	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:21842333C>T	ENST00000382254.1	-	8	1837	c.751G>A	c.(751-753)Gga>Aga	p.G251R	CDH12_ENST00000522262.1_Missense_Mutation_p.G211R|CDH12_ENST00000504376.2_Missense_Mutation_p.G251R|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	251	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G251R(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTGTTGTTCCGGCTAATCCT	0.428000										HNSCC(59;0.17)			6	89					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223178	35223178	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:35223178C>A	ENST00000338513.1	+	2	420	c.247C>A	c.(247-249)Ctg>Atg	p.L83M		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	83					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)				GCAGCTTATCCTGGTGACATG	0.612000													10	37					0.010729	0.0108807	1	1	0
PLEC	5339	broad.mit.edu	37	8	144995667	144995667	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:144995667G>A	ENST00000322810.4	-	32	8902	c.8733C>T	c.(8731-8733)gtC>gtT	p.V2911V	PLEC_ENST00000527096.1_Silent_p.V2797V|PLEC_ENST00000354589.3_Silent_p.V2774V|PLEC_ENST00000436759.2_Silent_p.V2801V|PLEC_ENST00000398774.2_Silent_p.V2742V|PLEC_ENST00000356346.3_Silent_p.V2760V|PLEC_ENST00000345136.3_Silent_p.V2774V|PLEC_ENST00000354958.2_Silent_p.V2752V|PLEC_ENST00000357649.2_Silent_p.V2778V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2911	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTAGCCAGTGACGGCGCGCT	0.662000													13	51					0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76141411	76141411	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:76141411G>T	ENST00000377595.3	+	5	419	c.389G>T	c.(388-390)aGc>aTc	p.S130I	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	130					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GTGTCAATGAGCCCTGAAGAA	0.403000													18	48					9.7654e-05	0.000101179	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98503868	98503868	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:98503868G>A	ENST00000359863.4	+	13	1314	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E369K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E369K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	369					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACTGCCAGAGAGACTCTAAG	0.408000													6	51					0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36336720	36336720	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:36336720C>T	ENST00000242108.4	+	7	2152	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	EEPD1_ENST00000534978.1_Silent_p.I478I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	478					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TCACCAACATCAGCACCAAGA	0.483000													16	24					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43604272	43604272	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:43604272A>C	ENST00000451025.2	+	3	507	c.297A>C	c.(295-297)gaA>gaC	p.E99D	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.E67D|MAD2L1BP_ENST00000508232.1_3'UTR	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	67					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGAGCCAGGAAGGCTGCTGTC	0.502000													27	54					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584827	179584827	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:179584827C>G	ENST00000589042.1	-	81	23766	c.23542G>C	c.(23542-23544)Gat>Cat	p.D7848H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6604H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7531H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7531	Ig-like 60.						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)			GCAATGTTATCAATGAATGAA	0.438000													12	42					0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108817118	108817118	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:108817118A>G	ENST00000394684.4	+	3	966	c.409A>G	c.(409-411)Ata>Gta	p.I137V	SGMS2_ENST00000394686.3_Missense_Mutation_p.I137V|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.I137V	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	137					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	AAATGGGATTATATTAGTTGG	0.383000													23	40					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527594	23527594	+	Silent	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:23527594A>C	ENST00000296682.3	+	11	2579	c.2397A>C	c.(2395-2397)acA>acC	p.T799T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	799					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGACACACACAGGGGAGAAGC	0.567000										HNSCC(3;0.000094)			44	102					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834475	101834475	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:101834475G>A	ENST00000263468.8	+	6	2979	c.2709G>A	c.(2707-2709)gcG>gcA	p.A903A	KIAA1377_ENST00000537689.1_Silent_p.A704A	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	903							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGCAAGATGCGACATTATATT	0.413000													28	67					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168994608	168994608	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:168994608G>C	ENST00000355999.4	-	8	1669	c.964C>G	c.(964-966)Cct>Gct	p.P322A		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	322	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTTTTGGAAGGATCTTTCTGA	0.403000													6	48					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204216508	204216508	+	Silent	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:204216508G>C	ENST00000272203.3	-	13	2221	c.1905C>G	c.(1903-1905)ctC>ctG	p.L635L	PLEKHA6_ENST00000414478.1_Silent_p.L655L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	635										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TGTCCAAATTGAGCTGCTCCC	0.567000													6	15					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123599813	123599813	+	Silent	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:123599813C>G	ENST00000340011.5	+	5	1677	c.1320C>G	c.(1318-1320)acC>acG	p.T440T	SPAM1_ENST00000223028.7_Silent_p.T440T|SPAM1_ENST00000460182.1_Silent_p.T440T|SPAM1_ENST00000402183.2_Silent_p.T440T|SPAM1_ENST00000439500.1_Silent_p.T440T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	440					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTTATAGCACCTTGAGTTGTA	0.398000													20	40					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84055990	84055990	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:84055990C>A	ENST00000369705.3	-	5	618	c.502G>T	c.(502-504)Ggc>Tgc	p.G168C	ME1_ENST00000541327.1_Missense_Mutation_p.G2C|ME1_ENST00000543031.1_Missense_Mutation_p.G93C	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	168					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ACAGGGATGCCCATTCCATTA	0.448000													16	38					3.45872e-05	3.62282e-05	1	1	0
DCAF13	25879	broad.mit.edu	37	8	104442886	104442886	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:104442886A>G	ENST00000297579.5	+	6	1404	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	224					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATAGTACTGTACGATATGAGG	0.373000													42	86					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535280	96535280	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:96535280G>C	ENST00000371321.3	+	3	547	c.465G>C	c.(463-465)gaG>gaC	p.E155D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	155					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTGTGGAGGAGTTGAGAAAAA	0.522000													17	98					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50036917	50036917	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:50036917G>A	ENST00000443081.1	+	6	2051	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D510N			P78332	RBM6_HUMAN	RNA binding motif protein 6	510					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTCTTGGAAGATGCCATCGG	0.448000													34	90					0	0	1	0	0
KLRC4	8302	broad.mit.edu	37	12	10562131	10562131	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:10562131T>C	ENST00000309384.1	-	1	225	c.44A>G	c.(43-45)cAg>cGg	p.Q15R	KLRC4-KLRK1_ENST00000539300.1_Silent_p.P6P	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	15					cellular defense response	integral to membrane	binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CTTTGGGTCCTGGGCCAGACT	0.418000													26	45					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77651495	77651495	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:77651495T>C	ENST00000461745.1	+	20	3889	c.2989T>C	c.(2989-2991)Tat>Cat	p.Y997H	ROBO2_ENST00000487694.3_Missense_Mutation_p.Y1013H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y997H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	997					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCTACCCCATATGCCACGAC	0.433000													15	33					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160466020	160466020	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:160466020T>A	ENST00000368059.3	-	2	282	c.213A>T	c.(211-213)aaA>aaT	p.K71N	SLAMF6_ENST00000368057.3_Missense_Mutation_p.K71N|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	71						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTTCTGGACTTTTGGTTTCAT	0.468000													37	63					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9009144	9009144	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:9009144C>T	ENST00000344836.4	-	10	1243	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	USP7_ENST00000381886.4_Missense_Mutation_p.D333N|USP7_ENST00000535863.1_Missense_Mutation_p.D250N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	349					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGCTGGATATCATAATAATCT	0.308000													6	79					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123210198	123210198	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:123210198T>A	ENST00000371160.1	+	26	2840	c.2550T>A	c.(2548-2550)gaT>gaA	p.D850E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.D850E|STAG2_ENST00000371157.3_Missense_Mutation_p.D850E|STAG2_ENST00000371144.3_Missense_Mutation_p.D850E|STAG2_ENST00000371145.3_Missense_Mutation_p.D850E|STAG2_ENST00000354548.5_Missense_Mutation_p.D781E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	850					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCAAGAGGATGAAGCCAGTA	0.348000													12	74					0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5556513	5556513	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:5556513T>A	ENST00000379019.4	-	9	1029	c.817A>T	c.(817-819)Act>Tct	p.T273S	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	273			T -> I (in dbSNP:rs2273373).		glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATGGGAAGAGTAAGAATTCCA	0.443000													15	62					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109109	123109109	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:123109109T>C	ENST00000264501.4	+	9	1060	c.687T>C	c.(685-687)gaT>gaC	p.D229D	KIAA1109_ENST00000388738.3_Silent_p.D229D|KIAA1109_ENST00000455637.1_Silent_p.D229D			Q2LD37	K1109_HUMAN	KIAA1109	229					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACTTTGATGATGCTTTCTTAA	0.348000													27	57					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100203987	100203987	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:100203987T>G	ENST00000355295.4	+	6	980	c.685T>G	c.(685-687)Tct>Gct	p.S229A	TDRD7_ENST00000422139.2_Missense_Mutation_p.S155A	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	229					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GCCTCCTGCCTCTTACACTTA	0.284000													23	27					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512506	152512506	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:152512506T>A	ENST00000427231.2	-	50	6729	c.6527A>T	c.(6526-6528)tAc>tTc	p.Y2176F	NEB_ENST00000409198.1_Missense_Mutation_p.Y2176F|NEB_ENST00000604864.1_Missense_Mutation_p.Y2176F|NEB_ENST00000172853.10_Missense_Mutation_p.Y2176F|NEB_ENST00000603639.1_Missense_Mutation_p.Y2176F|NEB_ENST00000397345.3_Missense_Mutation_p.Y2176F	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGCCCTTTGTACCATTCATT	0.413000													13	29					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820167	113820167	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:113820167C>T	ENST00000393200.2	+	5	542	c.381C>T	c.(379-381)gcC>gcT	p.A127A	IL36RN_ENST00000346807.3_Silent_p.A127A	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	127						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGCCTGAAGCCGATCAGCCTG	0.607000													5	32					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6609684	6609684	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:6609684T>C	ENST00000377705.5	-	3	723	c.691A>G	c.(691-693)Act>Gct	p.T231A		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	231					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTTTACAGTGGCAGTTTTC	0.398000													12	72					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923806	24923806	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:24923806C>T	ENST00000329468.2	+	1	3266	c.2792C>T	c.(2791-2793)cCt>cTt	p.P931L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTAACATCTCCTTCAGTCCAG	0.493000													14	56					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202899695	202899695	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:202899695G>A	ENST00000286201.1	+	1	386	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	109	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTATGCGCCCGTGTGCACCGT	0.627000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	38					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71697814	71697814	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:71697814G>A	ENST00000568954.1	-	13	2351	c.1973C>T	c.(1972-1974)aCc>aTc	p.T658I	RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000567016.1_Missense_Mutation_p.T693I|PHLPP2_ENST00000393524.2_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T658I|PHLPP2_ENST00000540628.1_5'UTR|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T658I			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	658						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TGCAGGAAAGGTCTGTAACTG	0.398000													19	31					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924130	150924130	+	Silent	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:150924130G>C	ENST00000261800.5	-	9	6570	c.6558C>G	c.(6556-6558)ctC>ctG	p.L2186L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2186	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGGGTATAGAGGGTGATAT	0.478000													33	61					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906895	32906895	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:32906895A>G	ENST00000544455.1	+	10	1507	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	BRCA2_ENST00000380152.3_Missense_Mutation_p.D427G	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	427					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAGAAAAAGACCTATTAGAC	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			49	84					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083771	152083771	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:152083771T>C	ENST00000368804.1	-	2	1921	c.1922A>G	c.(1921-1923)gAg>gGg	p.E641G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	641	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCGCCTCTCCTCCTGCTC	0.677000													16	53					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76554236	76554236	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:76554236C>G	ENST00000389840.5	-	14	2256	c.2132G>C	c.(2131-2133)cGg>cCg	p.R711P	DNAH17_ENST00000585328.1_Missense_Mutation_p.R711P					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACAAACTTCCGGAAAGTTTC	0.448000													11	6					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71148261	71148261	+	Translation_Start_Site	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:71148261T>C	ENST00000440835.2	-	0	180				PTPRR_ENST00000342084.4_Intron|PTPRR_ENST00000378778.1_Intron|PTPRR_ENST00000283228.2_Intron|PTPRR_ENST00000549308.1_Intron	NM_130846.2	NP_570897.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CATCCTTATATATCGAGATTA	0.483000													7	15					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194159647	194159647	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:194159647T>C	ENST00000439040.1	-	17	2556	c.1765A>G	c.(1765-1767)Aca>Gca	p.T589A	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T589A			Q9H7F0	AT133_HUMAN	ATPase type 13A3	589					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CGAACCACTGTGGGCATAATT	0.383000													13	58					0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656503	240656503	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:240656503G>A	ENST00000318160.4	-	2	539	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	91	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			GGTTGAGGATGGTGCGGCTCC	0.637000													11	37					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020173	111020173	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:111020173T>A	ENST00000262839.2	-	11	3208	c.2290A>T	c.(2290-2292)Aga>Tga	p.R764*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	764					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATGTTTTCTATTTCCCAAG	0.453000													38	236					0	0	1	0	0
THTPA	79178	broad.mit.edu	37	14	24027994	24027994	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:24027994A>G	ENST00000288014.6	+	2	1374	c.638A>G	c.(637-639)aAc>aGc	p.N213S	RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000404535.3_Missense_Mutation_p.N213S|THTPA_ENST00000554970.1_Missense_Mutation_p.N123S|THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554789.1_3'UTR			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	213					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	CTAGAAGTGAACAGCTCCAGA	0.552000											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	23					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18145297	18145297	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:18145297G>A	ENST00000316843.4	+	19	2962	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	956					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTGGCCCCGCGATGCCACCCA	0.612000													7	40					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134992292	134992292	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:134992292A>G	ENST00000535938.1	+	15	1994	c.1827A>G	c.(1825-1827)gcA>gcG	p.A609A	SAGE1_ENST00000537770.1_Silent_p.A233A|SAGE1_ENST00000370709.3_Silent_p.A609A|SAGE1_ENST00000324447.3_Silent_p.A609A	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	609										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTAATATGGCAGCAACTGGTG	0.413000													29	98					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76427352	76427352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:76427352C>T	ENST00000357063.3	+	29	5905	c.4645C>T	c.(4645-4647)Cag>Tag	p.Q1549*	LMO7_ENST00000321797.8_Nonsense_Mutation_p.Q1264*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.Q1215*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.Q1141*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.Q1264*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.Q1549*			Q8WWI1	LMO7_HUMAN	LIM domain 7	1549						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCACCACCTCAGCTGGTGTC	0.587000													7	29					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24507310	24507310	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:24507310C>T	ENST00000327535.1	-	2	105	c.93G>A	c.(91-93)acG>acA	p.T31T	IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000374418.3_Silent_p.T31T|IFNLR1_ENST00000327575.2_Silent_p.T31T|IFNLR1_ENST00000374421.3_Silent_p.T31T	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		GGGAGAGCAGCGTCACATTCT	0.602000													6	25					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060567	152060567	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:152060567T>C	ENST00000368806.1	-	2	117	c.53A>G	c.(52-54)tAt>tGt	p.Y18C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	18							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCACTGGCATATTTGTGGAA	0.463000													32	53					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48145609	48145609	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:48145609A>G	ENST00000320031.8	+	4	934	c.604A>G	c.(604-606)Agc>Ggc	p.S202G	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.S202G	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	202					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCTGGGCACCAGCGGTGGCTT	0.592000													7	56					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68835597	68835597	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:68835597G>C	ENST00000261769.5	+	3	379	c.188G>C	c.(187-189)cGa>cCa	p.R63P	CDH1_ENST00000422392.2_Missense_Mutation_p.R63P|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	63					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCACCGGTCGACAAAGGACA	0.453000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				27	94					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877271	24877271	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:24877271A>T	ENST00000382554.3	+	3	713	c.395A>T	c.(394-396)aAc>aTc	p.N132I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	132					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGACACAGAACTGGCTGGAG	0.687000													15	35					0	0	1	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	T	A	rs3869320	by1000genomes	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:25161438T>A	ENST00000453498.1	+	0	962				TPTE2P6_ENST00000440905.1_RNA																							CTCTTTATAATAAGATTCATT	0.378000													4	46					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924174	150924174	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:150924174G>A	ENST00000261800.5	-	9	6526	c.6514C>T	c.(6514-6516)Cag>Tag	p.Q2172*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2172	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAGGACTCTGAAACAGTGGG	0.488000													32	70					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887495	52887495	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:52887495T>C	ENST00000422689.2	+	4	677	c.662T>C	c.(661-663)tTc>tCc	p.F221S		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	221					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GACAAGGTCTTCAGTAACAGT	0.393000													13	9					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30825274	30825274	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:30825274G>A	ENST00000383096.3	-	15	1710	c.1528C>T	c.(1528-1530)Cac>Tac	p.H510Y	CCDC178_ENST00000406524.2_Missense_Mutation_p.H510Y|CCDC178_ENST00000402325.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000403303.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000300227.8_Missense_Mutation_p.H510Y|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.H510Y|CCDC178_ENST00000583930.1_Missense_Mutation_p.H510Y					coiled-coil domain containing 178																		TTGGTTAGGTGGAAAAGAGTA	0.328000													6	14					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121228938	121228938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:121228938C>T	ENST00000264233.5	-	11	1892	c.1764G>A	c.(1762-1764)tgG>tgA	p.W588*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	588					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTCTAGTAGCCACATCACAC	0.418000								DNA polymerases (catalytic subunits)					9	63					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86049847	86049847	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:86049847T>C	ENST00000414626.2	+	14	3307	c.2418T>C	c.(2416-2418)atT>atC	p.I806I	LRRCC1_ENST00000360375.3_Silent_p.I826I			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	826					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CTGAAACTATTAGAAAATTAA	0.313000													38	82					0	0	1	0	0
C8orf47	203111	broad.mit.edu	37	8	99101969	99101969	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:99101969G>A	ENST00000318528.3	+	2	1083	c.724G>A	c.(724-726)Gag>Aag	p.E242K	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	242	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AACAGCTGAAGAGCAGCAACT	0.443000													7	23					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28712133	28712133	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:28712133G>C	ENST00000225719.4	+	2	949	c.873G>C	c.(871-873)ttG>ttC	p.L291F	CPD_ENST00000543464.2_Missense_Mutation_p.L44F	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	291	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTAAATACTTGGCAAAAGCTT	0.423000													20	100					0	0	1	0	0
C1orf63	57035	broad.mit.edu	37	1	25569143	25569143	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:25569143T>C	ENST00000243189.7	-	5	1086	c.810A>G	c.(808-810)gcA>gcG	p.A270A	C1orf63_ENST00000417642.2_Silent_p.A271A	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	270										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATCTTGAAGATGCCTCTTCTG	0.363000													7	60					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734207	37734207	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:37734207C>T	ENST00000589413.1	+	8	1652	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ZNF383_ENST00000352998.3_Nonsense_Mutation_p.Q357*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.Q357*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACTAATCATCAGAGAATTCA	0.428000													31	49					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100091379	100091379	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:100091379C>T	ENST00000423930.1	+	7	2541	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	NYAP1_ENST00000300179.2_Silent_p.I793I|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000454988.1_Silent_p.I737I			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	793																	GCAAGGAGATCAAGGCGCGCC	0.736000													2	2					0	0	1	0	0
PPP1CB	5500	broad.mit.edu	37	2	29016737	29016737	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:29016737A>G	ENST00000395366.2	+	7	1025	c.753A>G	c.(751-753)gaA>gaG	p.E251E	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000358506.2_Silent_p.E251E|PPP1CB_ENST00000296122.6_Silent_p.E251E	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	251					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGGTGGTGGAAGATGGATATG	0.388000													13	46					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	899856	899856	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:899856C>T	ENST00000456758.2	+	20	2183	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	SUN1_ENST00000401592.1_Missense_Mutation_p.S539L|SUN1_ENST00000425407.2_Missense_Mutation_p.S456L|SUN1_ENST00000405266.1_Missense_Mutation_p.S576L|SUN1_ENST00000389574.3_Missense_Mutation_p.S456L|SUN1_ENST00000452783.2_Missense_Mutation_p.S436L|SUN1_ENST00000413514.2_Missense_Mutation_p.S337L			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	566	SUN.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGTTCTCATCACAGTTTGTG	0.532000													7	24					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9859372	9859372	+	Translation_Start_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:9859372A>T	ENST00000397241.1	+	0	575				TTLL3_ENST00000427853.3_De_novo_Start_OutOfFrame|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E214V|TTLL3_ENST00000547186.1_Missense_Mutation_p.E120V|TTLL3_ENST00000426895.4_Missense_Mutation_p.E263V			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGGTTTGATGAGGTTGATGCC	0.557000													20	127					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48593483	48593483	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:48593483T>G	ENST00000342988.3	+	10	1772	c.1234T>G	c.(1234-1236)Tac>Gac	p.Y412D	SMAD4_ENST00000588745.1_Missense_Mutation_p.Y316D|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y412D	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	412	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTACAGAGTTACTACTTAGA	0.428000													20	49					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4881809	4881809	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:4881809G>A	ENST00000361571.5	-	9	2163	c.1752C>T	c.(1750-1752)tgC>tgT	p.C584C	CAMTA2_ENST00000348066.3_Silent_p.C585C|CAMTA2_ENST00000358183.4_Silent_p.C585C|CAMTA2_ENST00000414043.3_Silent_p.C608C|CAMTA2_ENST00000381311.5_Silent_p.C587C|CAMTA2_ENST00000572543.1_Silent_p.C590C	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	585	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGGGACAGTAGCAGCGTAAGA	0.562000													5	16					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969138	37969138	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:37969138G>A	ENST00000327441.7	+	13	1523	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	MIPOL1_ENST00000556451.1_Missense_Mutation_p.E322K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.E353K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.E353K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.E322K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.E172K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.E322K	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	353										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		ATCTCAAGAAGAAAATCTGAA	0.274000													9	34					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:7578502A>G	ENST00000420246.2	-	5	560	c.428T>C	c.(427-429)gTg>gCg	p.V143A	TP53_ENST00000269305.4_Missense_Mutation_p.V143A|TP53_ENST00000359597.4_Missense_Mutation_p.V143A|TP53_ENST00000455263.2_Missense_Mutation_p.V143A|TP53_ENST00000413465.2_Missense_Mutation_p.V143A|TP53_ENST00000445888.2_Missense_Mutation_p.V143A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587000		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)			16	18					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202151181	202151181	+	Splice_Site	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:202151181G>C	ENST00000358485.4	+	9	1677		c.e9-1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000432109.2_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.?(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATGTATTTCAGAGGCGATGAT	0.428000										HNSCC(4;0.00038)			9	23					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654326	61654326	+	Silent	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:61654326T>G	ENST00000397985.2	+	7	1195	c.939T>G	c.(937-939)gtT>gtG	p.V313V	SERPINB8_ENST00000353706.2_Silent_p.V313V|SERPINB8_ENST00000542677.1_Silent_p.V131V|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	313					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TGTCCAAGGTTGCCCACAAGT	0.517000													4	28					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239056	126239056	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:126239056T>C	ENST00000394329.3	+	1	1503	c.1490T>C	c.(1489-1491)aTa>aCa	p.I497T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	497	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGAGTGGGATATCTGCCACT	0.498000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	16					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254992	3254992	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:3254992T>C	ENST00000304646.2	+	1	746	c.746T>C	c.(745-747)cTc>cCc	p.L249P	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GCTGTGGTTCTCCTCTTCTAC	0.488000													37	57					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954954	954954	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:954954C>T	ENST00000273814.3	-	22	2683	c.2610G>A	c.(2608-2610)cgG>cgA	p.R870R		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	870					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGGGCAATCCGGATTCCGG	0.711000													16	9					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158597508	158597508	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:158597508C>A	ENST00000368147.4	-	40	5751	c.5571G>T	c.(5569-5571)ttG>ttT	p.L1857F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTCATTAGCAAGCTCTGCA	0.403000													6	41					0.00307968	0.00313985	1	1	0
TSPAN1	10103	broad.mit.edu	37	1	46650472	46650472	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:46650472A>G	ENST00000372003.1	+	6	819	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	119						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GCACTTCCTGACGTTGCTGGT	0.557000													9	66					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12340387	12340387	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:12340387G>C	ENST00000269143.3	-	15	2024	c.1793C>G	c.(1792-1794)cCa>cGa	p.P598R		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	598					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTTGCCACGTGGGATGATGGA	0.388000													7	71					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181183	6181183	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:6181183G>C	ENST00000262450.3	-	33	4993	c.4894C>G	c.(4894-4896)Ccg>Gcg	p.P1632A	CHD5_ENST00000378021.1_Missense_Mutation_p.P489A	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1632					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCTGCTCCGGGGAGGGCGGG	0.657000													3	9					0	0	1	0	0
TP53TG5	27296	broad.mit.edu	37	20	44005882	44005882	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:44005882C>A	ENST00000372726.3	-	3	380	c.224G>T	c.(223-225)aGt>aTt	p.S75I	TP53TG5_ENST00000494455.1_5'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000537995.1_Missense_Mutation_p.S59I	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	75					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CTTTGGAACACTGAGCAGTGA	0.512000													35	140					2.42023e-17	2.68707e-17	1	1	0
HSPA13	6782	broad.mit.edu	37	21	15746066	15746066	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr21:15746066C>G	ENST00000285667.3	-	5	1355	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L	HSPA13_ENST00000544452.1_Missense_Mutation_p.V222L	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	430						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TCAGGGTCTACAGATGTGTTG	0.478000													29	47					0	0	1	0	0
C4orf32	132720	broad.mit.edu	37	4	113107967	113107967	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:113107967A>G	ENST00000309733.5	+	2	456	c.272A>G	c.(271-273)tAt>tGt	p.Y91C		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32							integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		ACAAGGATGTATTTTGGAGAA	0.433000													30	151					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153186957	153186957	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:153186957G>C	ENST00000370028.3	-	3	353	c.296C>G	c.(295-297)cCc>cGc	p.P99R	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P99R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P76R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P99R|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P99R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	99					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTGCAAGGGCGACAGGAG	0.726000													3	12					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43171267	43171267	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr21:43171267C>T	ENST00000352483.2	-	3	677	c.613G>A	c.(613-615)Gat>Aat	p.D205N	RIPK4_ENST00000544709.1_Missense_Mutation_p.D142N|RIPK4_ENST00000542057.1_Missense_Mutation_p.D142N|RIPK4_ENST00000332512.3_Missense_Mutation_p.D205N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	205						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGTATACATCGTGCTTGGTG	0.592000													6	18					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525162	61525162	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:61525162G>A	ENST00000266070.4	-	12	3282	c.2957C>T	c.(2956-2958)cCa>cTa	p.P986L	DIDO1_ENST00000395335.2_Missense_Mutation_p.P986L|DIDO1_ENST00000395340.1_Missense_Mutation_p.P986L|DIDO1_ENST00000395343.1_Missense_Mutation_p.P986L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	986					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTGCTGTCTGGGCGGGATGC	0.617000													16	48					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575098	136575098	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:136575098T>C	ENST00000264162.2	-	6	1530	c.1520A>G	c.(1519-1521)cAt>cGt	p.H507R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	507	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCATCCACCATGATCCTGCAG	0.582000													4	28					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73336102	73336102	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:73336102T>G	ENST00000377767.4	-	17	2401	c.2301A>C	c.(2299-2301)ttA>ttC	p.L767F	DIS3_ENST00000545453.1_Missense_Mutation_p.L605F|DIS3_ENST00000377780.4_Missense_Mutation_p.L737F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	767					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328000										Multiple Myeloma(4;0.011)			14	44					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41276538	41276538	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:41276538C>G	ENST00000361937.3	-	33	4358	c.3934G>C	c.(3934-3936)Gat>Cat	p.D1312H	INO80_ENST00000401393.3_Missense_Mutation_p.D1312H			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1312	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCCAATTCATCTTCTTTTTTC	0.448000													6	20					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110342883	110342883	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:110342883C>A	ENST00000356688.4	-	4	548	c.233G>T	c.(232-234)gGa>gTa	p.G78V	SEPT10_ENST00000545389.1_Intron|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000397712.2_Missense_Mutation_p.G78V|SEPT10_ENST00000437928.1_Missense_Mutation_p.G63V|SEPT10_ENST00000397714.2_Missense_Mutation_p.G55V|SEPT10_ENST00000415095.1_Missense_Mutation_p.G78V			Q9P0V9	SEP10_HUMAN	septin 10	78					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTGATTTTCCAATTCCAGT	0.338000													11	30					6.40141e-05	6.65654e-05	1	1	0
EPHX3	79852	broad.mit.edu	37	19	15338269	15338269	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:15338269G>A	ENST00000221730.3	-	7	1282	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	EPHX3_ENST00000435261.1_Silent_p.F354F|EPHX3_ENST00000602233.1_Silent_p.F354F	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	354						extracellular region	hydrolase activity	p.F354L(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGTCTTGCAAGAAGGCCCACA	0.592000													9	23					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13758996	13758996	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:13758996C>T	ENST00000265104.4	-	61	10482	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3460	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547000									Kartagener syndrome				54	99					0	0	1	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39928410	39928410	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:39928410C>T	ENST00000334678.3	-	2	287	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	57						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCAGTGCCGACTTGGGCACCT	0.642000													9	24					0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62700768	62700768	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:62700768T>G	ENST00000395053.3	+	5	539	c.384T>G	c.(382-384)ttT>ttG	p.F128L	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.F101L|TCEA2_ENST00000343484.5_Missense_Mutation_p.F128L			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	128					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCACCACATTTCCTCCGGTGC	0.677000													4	7					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13224193	13224193	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:13224193G>T	ENST00000197268.8	+	10	1507	c.1387G>T	c.(1387-1389)Gac>Tac	p.D463Y		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	463						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTGGATGGTGACTCTGGCTC	0.478000													31	51					1.836e-18	2.04237e-18	1	1	0
PUS7L	83448	broad.mit.edu	37	12	44148388	44148388	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:44148388A>G	ENST00000416848.2	-	2	1149	c.661T>C	c.(661-663)Tat>Cat	p.Y221H	PUS7L_ENST00000551923.1_Missense_Mutation_p.Y221H|PUS7L_ENST00000553166.1_Missense_Mutation_p.Y221H|PUS7L_ENST00000344862.5_Missense_Mutation_p.Y221H|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	221					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GCATCCAAATATTTAAAAAAG	0.303000													18	29					0	0	1	0	0
NKX6-3	157848	broad.mit.edu	37	8	41504095	41504095	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:41504095G>C	ENST00000524115.2	-	2	284	c.281C>G	c.(280-282)tCg>tGg	p.S94W		NM_152568.2	NP_689781.1	A6NJ46	NKX63_HUMAN	NK6 homeobox 3	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCGTTCTCCGAGGGTGCGCG	0.721000													5	4					0	0	1	0	0
PAK3	5063	broad.mit.edu	37	X	110391069	110391069	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:110391069T>A	ENST00000372007.5	+	7	772	c.381T>A	c.(379-381)gaT>gaA	p.D127E	PAK3_ENST00000417227.1_Missense_Mutation_p.D148E|PAK3_ENST00000425146.1_Missense_Mutation_p.D127E|PAK3_ENST00000518291.1_Missense_Mutation_p.D163E|PAK3_ENST00000519681.1_Missense_Mutation_p.D148E|PAK3_ENST00000360648.4_Missense_Mutation_p.D163E|PAK3_ENST00000372010.1_Missense_Mutation_p.D142E|PAK3_ENST00000446737.1_Missense_Mutation_p.D127E|PAK3_ENST00000262836.4_Missense_Mutation_p.D142E	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Autoregulatory region (By similarity).|Linker.			QKKN -> PEEE (in Ref. 2).	multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATTCTATGATTCCAAAGAAA	0.373000										TSP Lung(19;0.15)			25	43					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166408670	166408670	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:166408670G>C	ENST00000402744.4	+	6	1334	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	352					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCACCTGAAGAGACTCTGAA	0.453000													31	54					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31153274	31153274	+	Missense_Mutation	SNP	G	G	C	rs141721966	byFrequency	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:31153274G>C	ENST00000268281.4	-	11	1587	c.1529C>G	c.(1528-1530)tCg>tGg	p.S510W	PRSS36_ENST00000569305.1_Missense_Mutation_p.S505W|PRSS36_ENST00000418068.2_Missense_Mutation_p.S510W	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	510	Peptidase S1 2.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCTCCAACGCGAGTCATTCTG	0.542000													22	28					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371529	139371529	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:139371529G>C	ENST00000313050.7	-	1	612	c.539C>G	c.(538-540)cCt>cGt	p.P180R	SEC16A_ENST00000371706.3_Missense_Mutation_p.P2R|SEC16A_ENST00000290037.6_Missense_Mutation_p.P2R|SEC16A_ENST00000431893.2_Missense_Mutation_p.P2R	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTCGAGCCCAGGCATGTTCCC	0.582000													7	73					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150671929	150671929	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:150671929C>T	ENST00000262186.5	-	2	578	c.177G>A	c.(175-177)gtG>gtA	p.V59V	KCNH2_ENST00000430723.3_Silent_p.V59V	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	59	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GTCGCTGCATCACCTCGGCCC	0.692000													5	19					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521259	22521259	+	RNA	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:22521259T>G	ENST00000390449.3	+	0	287																											ACGTAGTACTTTATACATTGC	0.468000													7	17					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56716356	56716356	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:56716356T>C	ENST00000370754.5	-	4	463	c.464A>G	c.(463-465)gAt>gGt	p.D155G	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCGGAAAAATCCGCAGAGGA	0.473000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	24					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85711789	85711789	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:85711789G>A	ENST00000526033.1	-	11	1367	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y	PICALM_ENST00000528398.1_Missense_Mutation_p.H300Y|PICALM_ENST00000356360.5_Missense_Mutation_p.H351Y|PICALM_ENST00000393346.3_Missense_Mutation_p.H351Y|PICALM_ENST00000532317.1_Missense_Mutation_p.H351Y	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	351					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAAGAGGTATGAGGTTTCTTT	0.423000			T	"""MLLT10, MLL"""	"""TALL, AML, """								22	64					0	0	1	0	0
FAM218A	152756	broad.mit.edu	37	4	165878395	165878395	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:165878395T>C	ENST00000513876.2	+	1	296	c.221T>C	c.(220-222)cTc>cCc	p.L74P	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN	family with sequence similarity 218, member A	74																	CAGCGGTCGCTCCACCAATCC	0.587000													5	12					0	0	1	0	0
RAB25	57111	broad.mit.edu	37	1	156038131	156038131	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:156038131G>T	ENST00000361084.5	+	3	551	c.310G>T	c.(310-312)Gag>Tag	p.E104*	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	104					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCTGTGGTGGAGCGATGGCT	0.572000													13	56					2.68362e-12	2.93409e-12	1	1	0
CASC5	57082	broad.mit.edu	37	15	40912936	40912936	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:40912936T>C	ENST00000346991.5	+	11	942	c.552T>C	c.(550-552)acT>acC	p.T184T	CASC5_ENST00000399668.2_Silent_p.T158T|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	184	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAAGTCACACTGTAATGATTA	0.373000													7	35					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005918	50005918	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:50005918C>T	ENST00000443081.1	+	3	1583	c.664C>T	c.(664-666)Cca>Tca	p.P222S	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.P354S			P78332	RBM6_HUMAN	RNA binding motif protein 6	354					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGAGTCTCCAGCAGACTT	0.438000													8	46					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94841845	94841845	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:94841845C>T	ENST00000337841.4	-	6	443	c.431G>A	c.(430-432)tGa>tAa	p.*144*	SPTLC1_ENST00000262554.2_Intron|SPTLC1_ENST00000482632.1_5'UTR	NM_178324.1	NP_847894.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	0			V -> D (in HSAN1A).			integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTTCATCTTCATTCTAGAAA	0.428000													8	60					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44278753	44278753	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:44278753G>A	ENST00000244571.4	-	4	729	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	243					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ATGAAGACCAGGTTCCAAAGC	0.532000													16	57					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765801	41765801	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:41765801G>A	ENST00000301178.4	+	20	2867	c.2677G>A	c.(2677-2679)Ggt>Agt	p.G893S	AXL_ENST00000359092.3_Missense_Mutation_p.G884S|AXL_ENST00000593513.1_Missense_Mutation_p.G625S	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	893						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAGGAGGATGGTGCCTGAGA	0.627000													3	20					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129034	248129034	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:248129034C>G	ENST00000366480.3	+	1	500	c.401C>G	c.(400-402)tCt>tGt	p.S134C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGTTTTATGTCTTATGATCGC	0.448000													48	101					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170518892	170518892	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:170518892A>G	ENST00000447353.1	-	5	822	c.717T>C	c.(715-717)gaT>gaC	p.D239D		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TTTCCTCAGCATCTTTTTCTT	0.308000													19	40					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298265	75298265	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:75298265C>T	ENST00000304771.3	-	4	3031	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	MAP6_ENST00000526740.1_Missense_Mutation_p.D432N|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	761	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCAGAGGATCTTGATCCTTC	0.532000													13	77					0	0	1	0	0
SMC5	23137	broad.mit.edu	37	9	72897351	72897351	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:72897351T>C	ENST00000361138.5	+	7	891	c.833T>C	c.(832-834)gTt>gCt	p.V278A		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	278					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TATGAAAATGTTCGTCAGGAA	0.348000													10	25					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062822	194062822	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:194062822C>A	ENST00000323830.3	-	2	699	c.610G>T	c.(610-612)Gcg>Tcg	p.A204S	CPN2_ENST00000429275.1_Missense_Mutation_p.A204S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	204					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGAGAGCGCGTTGTTGCTC	0.612000													5	27					0.184627	0.18495	1	1	0
TRAPPC8	22878	broad.mit.edu	37	18	29522680	29522680	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:29522680G>A	ENST00000283351.4	-	1	383	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Silent_p.F16F|TRAPPC8_ENST00000582539.1_Intron|RP11-326K13.4_ENST00000580420.1_RNA	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	16					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGGGGACGAAGGAGTCCG	0.662000													3	3					0	0	1	0	0
COA4	51287	broad.mit.edu	37	11	73584433	73584433	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:73584433G>A	ENST00000541455.1	-	2	411	c.18C>T	c.(16-18)ccC>ccT	p.P6P	COA4_ENST00000355693.4_5'UTR|COA4_ENST00000537289.1_5'UTR|COA4_ENST00000545127.1_5'UTR					cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)																		TCCTGGGGATGGGGAGTCTAT	0.478000													3	26					0	0	1	0	0
RASSF5	83593	broad.mit.edu	37	1	206711530	206711530	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:206711530C>T	ENST00000355294.4	+	2	544	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	RASSF5_ENST00000367117.3_Missense_Mutation_p.R163C	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	163					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGAATGCCGCAGCCTGAT	0.532000													10	56					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038092	75038092	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:75038092T>A	ENST00000326665.5	-	14	3520	c.3302A>T	c.(3301-3303)gAa>gTa	p.E1101V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1101	Glu-rich.			E -> G (in Ref. 4; BAC86994).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCCCTTCTTCCGCTTTAAG	0.453000													14	71					0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19231604	19231604	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:19231604A>G	ENST00000578270.1	-	8	1533	c.593T>C	c.(592-594)gTc>gCc	p.V198A	ABHD3_ENST00000580981.1_Missense_Mutation_p.V340A|ABHD3_ENST00000289119.2_Missense_Mutation_p.V393A			Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	393						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TTGCTTGAAGACACGATCCAT	0.428000													7	81					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294605	12294605	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:12294605A>T	ENST00000379375.5	+	4	768	c.501A>T	c.(499-501)agA>agT	p.R167S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	167					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAAAAATCAGAAGAAGTTCAG	0.393000													14	22					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518334	105518334	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:105518334A>G	ENST00000329797.3	-	4	1051	c.140T>C	c.(139-141)gTg>gCg	p.V47A	GPR132_ENST00000392585.2_Missense_Mutation_p.V38A|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.V47A	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	47					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCTGTACACCACGACCAGGAC	0.667000													15	28					0	0	1	0	0
MANEA	79694	broad.mit.edu	37	6	96034649	96034649	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:96034649G>A	ENST00000358812.4	+	2	468	c.334G>A	c.(334-336)Gga>Aga	p.G112R	MANEA_ENST00000369293.1_Missense_Mutation_p.G112R	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	112	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CAGTTGGTATGGAAATCCACA	0.363000													16	30					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94171869	94171869	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:94171869A>T	ENST00000297689.3	-	2	1542	c.1148T>A	c.(1147-1149)gTg>gAg	p.V383E		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	383					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AGTCACTTGCACTGAGAAAGG	0.393000													69	92					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74487115	74487115	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:74487115T>C	ENST00000422840.2	-	26	3489	c.3490A>G	c.(3490-3492)Atg>Gtg	p.M1164V	GLG1_ENST00000447066.2_Missense_Mutation_p.M1153V|GLG1_ENST00000205061.5_Missense_Mutation_p.M1164V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1164						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CGTCCACACATCAGGCCAATC	0.483000													33	85					0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24134631	24134631	+	Silent	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:24134631G>T	ENST00000374483.4	-	8	1340	c.669C>A	c.(667-669)gcC>gcA	p.A223A	HMGCL_ENST00000374490.3_Silent_p.A248A|HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Silent_p.A177A			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	248					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TTACCTGCAGGGCCATCAAGG	0.507000													8	39					0.000157383	0.000162187	1	1	0
KRT32	3882	broad.mit.edu	37	17	39622399	39622399	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:39622399C>T	ENST00000225899.3	-	2	601	c.498G>A	c.(496-498)agG>agA	p.R166R		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	166	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TCACAACCATCCTGGCATTCT	0.517000													10	36					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44912496	44912496	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:44912496T>C	ENST00000261866.7	-	15	2742	c.2726A>G	c.(2725-2727)tAt>tGt	p.Y909C	SPG11_ENST00000427534.2_Missense_Mutation_p.Y909C|SPG11_ENST00000558319.1_Missense_Mutation_p.Y909C|SPG11_ENST00000535302.2_Missense_Mutation_p.Y909C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	909					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGTGAAGCATAACTATGCTG	0.388000													9	53					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122816	36122816	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:36122816A>G	ENST00000303965.4	-	23	4368	c.3879T>C	c.(3877-3879)taT>taC	p.Y1293Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1293	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ATATTTCTACATAATTATTAA	0.318000													17	36					0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104853781	104853781	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:104853781C>T	ENST00000343289.5	-	13	1023	c.936G>A	c.(934-936)ctG>ctA	p.L312L	NT5C2_ENST00000404739.3_Silent_p.L312L|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Silent_p.L283L	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	312					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACCAATTTTCAGCTTGCCAG	0.458000													14	74					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179143996	179143996	+	Translation_Start_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:179143996A>T	ENST00000232564.3	-	0	279				GNB4_ENST00000468623.1_De_novo_Start_OutOfFrame	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4						cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATTTTTTCAATTTGTTTACC	0.353000													11	25					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10504057	10504057	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:10504057C>A	ENST00000222005.2	-	6	840	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	263					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CGGCCCCGCACACGCTCCTTG	0.657000													7	41					0.0381472	0.0384149	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113328772	113328772	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:113328772T>A	ENST00000389385.4	+	19	2236	c.1739T>A	c.(1738-1740)aTg>aAg	p.M580K	RPH3A_ENST00000420983.2_Missense_Mutation_p.M580K|RPH3A_ENST00000415485.3_Missense_Mutation_p.M580K|RPH3A_ENST00000551052.1_Missense_Mutation_p.M576K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.M580K|RPH3A_ENST00000548866.1_Missense_Mutation_p.M531K|RPH3A_ENST00000447659.2_Missense_Mutation_p.M531K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	580	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTGGCTGCCATGGACGCTAAT	0.572000													3	10					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237917	29237917	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:29237917C>G	ENST00000382535.3	+	2	1801	c.1432C>G	c.(1432-1434)Caa>Gaa	p.Q478E	FOXG1_ENST00000313071.4_Missense_Mutation_p.Q478E			P55316	FOXG1_HUMAN	forkhead box G1	478					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTTCACACATCAAAATCAGGG	0.458000													22	52					0	0	1	0	0
ATG4A	115201	broad.mit.edu	37	X	107381402	107381402	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:107381402T>C	ENST00000372232.3	+	9	954	c.795T>C	c.(793-795)taT>taC	p.Y265Y	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Silent_p.Y241Y|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	265					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ATAACGCGTATTATTTCATAG	0.458000													27	76					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50750629	50750629	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:50750629T>A	ENST00000413817.3	-	20	1768	c.1697A>T	c.(1696-1698)tAc>tTc	p.Y566F		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CGTCTCGATGTACAGCTGTGC	0.662000													8	9					0	0	1	0	0
CTBP1	1487	broad.mit.edu	37	4	1222104	1222104	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:1222104T>C	ENST00000382952.3	-	4	574	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	CTBP1_ENST00000290921.6_Missense_Mutation_p.M75V	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	75	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTGTGGTACATCAGGGCCCCC	0.597000													30	54					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50847395	50847395	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:50847395C>T	ENST00000398473.2	+	9	1069	c.957C>T	c.(955-957)gtC>gtT	p.V319V	LARP4_ENST00000518444.1_Silent_p.V318V|LARP4_ENST00000518561.1_Silent_p.V249V|LARP4_ENST00000522085.1_Silent_p.V319V|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Silent_p.V319V|LARP4_ENST00000429001.3_Silent_p.V325V	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	319							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGTACTCGGTCTATAGTATTG	0.383000													29	35					0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153640430	153640430	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:153640430G>T	ENST00000299328.5	+	2	406	c.117G>T	c.(115-117)atG>atT	p.M39I	TAZ_ENST00000369790.4_Missense_Mutation_p.M39I|TAZ_ENST00000475699.1_Missense_Mutation_p.M39I|TAZ_ENST00000351413.4_Missense_Mutation_p.M39I|TAZ_ENST00000350743.4_Missense_Mutation_p.M39I|TAZ_ENST00000369776.4_Intron	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	39					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGAGTACATGAACCACCTGA	0.677000											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	10					5.18039e-06	5.45605e-06	1	1	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													4	8					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33846755	33846755	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:33846755A>G	ENST00000261326.5	+	14	2474	c.2453A>G	c.(2452-2454)cAg>cGg	p.Q818R	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	818	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TGCATCGACCAGCAAACTGGG	0.473000													9	17					0	0	1	0	0
FAM221A	340277	broad.mit.edu	37	7	23731032	23731032	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:23731032A>G	ENST00000344962.4	+	4	543	c.454A>G	c.(454-456)Agc>Ggc	p.S152G	FAM221A_ENST00000409994.3_Missense_Mutation_p.S94G|FAM221A_ENST00000409653.1_Missense_Mutation_p.S94G|FAM221A_ENST00000409192.3_Missense_Mutation_p.S152G	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	152																	AGGATTCCATAGCTGCTTCAC	0.433000													30	63					0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80010254	80010254	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:80010254T>C	ENST00000392358.2	+	1	421	c.72T>C	c.(70-72)agT>agC	p.S24S	GPS1_ENST00000355130.2_Silent_p.S24S|GPS1_ENST00000320548.4_5'UTR|GPS1_ENST00000306823.6_Intron|GPS1_ENST00000578552.1_Intron	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	0					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CTCACAGCAGTAGGTCAGACC	0.642000													4	10					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	59844509	59844509	+	Splice_Site	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:59844509G>T	ENST00000371218.4	+	5	738	c.554G>T	c.(553-555)cGg>cTg	p.R185L	FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Splice_Site_p.R185L|FGGY_ENST00000371212.1_Splice_Site_p.R97L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	185					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.R185Q(1)|p.R73Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GTCACAGCACGGTATGTTAAT	0.408000													13	37					6.31663e-08	6.7268e-08	1	1	0
CORIN	10699	broad.mit.edu	37	4	47765546	47765546	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:47765546A>T	ENST00000273857.4	-	4	466	c.467T>A	c.(466-468)cTg>cAg	p.L156Q	CORIN_ENST00000502252.1_Missense_Mutation_p.L89Q|CORIN_ENST00000504584.1_Missense_Mutation_p.L156Q|CORIN_ENST00000508498.1_Missense_Mutation_p.L17Q|CORIN_ENST00000505909.1_Missense_Mutation_p.L156Q	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	156	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GAGAGGTGTCAGCGTGGCGTG	0.468000													11	43					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14724925	14724925	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:14724925G>A	ENST00000403951.2	-	10	1193	c.774C>T	c.(772-774)tgC>tgT	p.C258C	DGKB_ENST00000258767.5_Silent_p.C258C|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.C258C|DGKB_ENST00000406247.3_Silent_p.C258C|DGKB_ENST00000407950.1_Silent_p.C251C|DGKB_ENST00000444700.2_Silent_p.C251C|DGKB_ENST00000399322.3_Silent_p.C258C			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	258					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.C258C(1)|p.C258*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGCAAAGGTTGCAATAGGCAG	0.493000													26	31					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154306994	154306994	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:154306994T>A	ENST00000368489.3	+	11	863	c.863T>A	c.(862-864)cTg>cAg	p.L288Q	ATP8B2_ENST00000368487.3_Missense_Mutation_p.L255Q|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L274Q|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	274					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACACTAAGCTGATGCAAAAC	0.542000													5	34					0	0	1	0	0
KXD1	79036	broad.mit.edu	37	19	18679354	18679354	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:18679354C>T	ENST00000602094.1	+	5	1904	c.444C>T	c.(442-444)ggC>ggT	p.G148G	KXD1_ENST00000539106.1_Silent_p.G148G|KXD1_ENST00000595073.1_Silent_p.G148G|AC005253.4_ENST00000593791.1_RNA|KXD1_ENST00000540691.1_Silent_p.G148G|KXD1_ENST00000222307.4_Silent_p.G148G|KXD1_ENST00000601630.1_Silent_p.G167G|KXD1_ENST00000599319.1_Silent_p.G148G			Q9BQD3	CS050_HUMAN	KxDL motif containing 1	148							protein binding										TGAGCCCCGGCTTCGAGGACC	0.662000													27	50					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10548990	10548990	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:10548990A>T	ENST00000322897.6	+	11	761	c.692A>T	c.(691-693)gAc>gTc	p.D231V	NAPG_ENST00000542979.1_Missense_Mutation_p.D149V	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	231					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GGCAGTGAAGACTGTGCTGCC	0.483000													22	59					0	0	1	0	0
IP6K1	9807	broad.mit.edu	37	3	49765535	49765535	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:49765535C>T	ENST00000321599.4	-	5	1094		c.e5+1		IP6K1_ENST00000395238.1_Splice_Site|IP6K1_ENST00000468463.1_Splice_Site|IP6K1_ENST00000460540.1_Splice_Site	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1						phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						AGGTAACTCACCTGCATGCCG	0.602000													8	74					0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46620610	46620610	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:46620610A>C	ENST00000296145.5	+	2	794	c.61A>C	c.(61-63)Aaa>Caa	p.K21Q	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.K5Q	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	21					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GGCCATTTCTAAAGTCTTTGA	0.388000													28	55					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111154926	111154926	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:111154926G>C	ENST00000280325.4	+	3	280	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	45										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GTTTCCCTGTGAGTCCTCCGC	0.592000													17	104					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505468	32505468	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:32505468A>G	ENST00000520502.2	+	1	232	c.232A>G	c.(232-234)Att>Gtt	p.I78V	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287842.3_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	0	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAAAATCTGCATTGTCCCCAT	0.567000													14	44					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832544	32832544	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:32832544T>G	ENST00000421745.2	+	72	14227	c.14093T>G	c.(14092-14094)cTt>cGt	p.L4698R		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4698	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCCAGTCCCTTATATTAGTA	0.408000													28	103					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50089793	50089793	+	Missense_Mutation	SNP	G	G	A	rs147272111	byFrequency	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:50089793G>A	ENST00000376042.1	+	10	4095	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H	CCNB3_ENST00000276014.7_Missense_Mutation_p.R1266H|CCNB3_ENST00000348603.2_Missense_Mutation_p.R162H|CCNB3_ENST00000376038.1_Missense_Mutation_p.R162H			Q8WWL7	CCNB3_HUMAN	cyclin B3	1266					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATTTTCTGCGCAGATATGCT	0.443000													6	25					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55085829	55085829	+	Silent	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:55085829T>A	ENST00000251377.3	+	4	265	c.132T>A	c.(130-132)ccT>ccA	p.P44P	LILRA2_ENST00000251376.3_Silent_p.P44P|LILRA2_ENST00000391738.3_Silent_p.P44P|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.P32P|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGGAAGTCCTGTGACCCTCA	0.547000													32	46					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91462983	91462983	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:91462983T>C	ENST00000360468.3	+	22	3437	c.3419T>C	c.(3418-3420)aTg>aCg	p.M1140T	MAN2A2_ENST00000430376.2_Missense_Mutation_p.M330T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.M648T|MAN2A2_ENST00000559717.1_Missense_Mutation_p.M1140T	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1140					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTGGAGCCCATGGAGATTGCT	0.512000													16	33					0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39722425	39722425	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:39722425A>G	ENST00000280082.3	+	6	2136	c.1937A>G	c.(1936-1938)aAt>aGt	p.N646S	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATTTTGCTAAATATAAGAGTG	0.289000													15	49					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090670	49090670	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:49090670G>A	ENST00000323090.4	+	2	729	c.354G>A	c.(352-354)aaG>aaA	p.K118K	SULT2B1_ENST00000201586.2_Silent_p.K133K	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCTTCACCAAGGCCTTCTTCA	0.607000													6	36					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183387050	183387050	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:183387050A>G	ENST00000435564.1	-	1	254	c.54T>C	c.(52-54)taT>taC	p.Y18Y	PDE1A_ENST00000358139.2_Silent_p.Y18Y|PDE1A_ENST00000410103.1_Silent_p.Y18Y|PDE1A_ENST00000456212.1_Silent_p.Y18Y|PDE1A_ENST00000331935.6_Silent_p.Y18Y|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	18					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTCCTGTAAGATACTTAAAAG	0.403000													18	53					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26830576	26830576	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:26830576T>C	ENST00000376236.4	+	11	1565	c.1110T>C	c.(1108-1110)caT>caC	p.H370H		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	370	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GGACTCAGCATAAAATGAAAT	0.303000													15	37					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494780	55494780	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:55494780A>T	ENST00000543010.1	+	6	1857	c.1714A>T	c.(1714-1716)Act>Tct	p.T572S	NLRP2_ENST00000448584.2_Missense_Mutation_p.T572S|NLRP2_ENST00000537859.1_Missense_Mutation_p.T550S|NLRP2_ENST00000339757.7_Missense_Mutation_p.T550S|NLRP2_ENST00000427260.2_Missense_Mutation_p.T549S|NLRP2_ENST00000263437.6_Missense_Mutation_p.T569S|NLRP2_ENST00000538819.1_Missense_Mutation_p.T548S|NLRP2_ENST00000391721.4_Missense_Mutation_p.T548S	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	572					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTTGGAGGCCACTTTTGGCTG	0.537000													28	22					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833630	101833630	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:101833630G>C	ENST00000263468.8	+	6	2134	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E423Q	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	622							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAAGGTGCAGAAATTCCAAA	0.313000													12	25					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23891567	23891567	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:23891567A>T	ENST00000264867.2	-	1	133	c.14T>A	c.(13-15)aTg>aAg	p.M5K	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.M5K	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	5					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CTGGTTGCACATGTCCCACGC	0.557000													15	49					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102250648	102250648	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:102250648G>A	ENST00000376180.3	+	7	1233	c.1014G>A	c.(1012-1014)agG>agA	p.R338R	ITGBL1_ENST00000376162.3_Splice_Site_p.R245R|ITGBL1_ENST00000545560.2_Splice_Site_p.R197R	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	338	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCTGGGAGGGGTAAGTGAG	0.498000													4	9					0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3734740	3734740	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:3734740C>G	ENST00000379772.3	-	6	1300	c.490G>C	c.(490-492)Gac>Cac	p.D164H	C20orf27_ENST00000217195.8_Missense_Mutation_p.D189H	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	164										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCTCTGAGTCGTATTCCAGC	0.667000													3	10					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48456576	48456576	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:48456576C>T	ENST00000393271.2	+	6	1342	c.1260C>T	c.(1258-1260)gaC>gaT	p.D420D	EME1_ENST00000338165.4_Silent_p.D407D|EME1_ENST00000511648.2_Silent_p.D420D	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	407					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCAGGGTAGACGCTGAAGAGG	0.502000								Direct reversal of damage;Homologous recombination					30	24					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25393963	25393963	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:25393963G>C	ENST00000315368.3	+	10	851	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	ANAPC4_ENST00000510092.1_Missense_Mutation_p.E237Q	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	237					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTACAGCTTGAAACTAATCT	0.363000													20	57					0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134540329	134540329	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:134540329A>G	ENST00000368594.3	+	9	929	c.652A>G	c.(652-654)Att>Gtt	p.I218V	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Missense_Mutation_p.I218V	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	218					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTCCAGAATCATTGATCAGCG	0.567000													6	62					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3344706	3344706	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:3344706C>T	ENST00000336727.3	+	3	2828	c.1924C>T	c.(1924-1926)Caa>Taa	p.Q642*	RGS12_ENST00000306648.7_Nonsense_Mutation_p.Q40*|RGS12_ENST00000344733.5_Nonsense_Mutation_p.Q642*|RGS12_ENST00000382788.3_Nonsense_Mutation_p.Q642*|RGS12_ENST00000543385.1_Nonsense_Mutation_p.Q642*	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	642						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAGCCTTCTCAACGCACGTC	0.418000													54	90					0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58705052	58705052	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:58705052G>A	ENST00000570101.1	-	9	2011	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	SLC38A7_ENST00000564010.1_Silent_p.V287V|SLC38A7_ENST00000219320.4_Silent_p.V376V|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	376					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGGAACCAGACCAGCGTCT	0.667000													5	8					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185984480	185984480	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:185984480G>A	ENST00000271588.4	+	31	5049	c.4820G>A	c.(4819-4821)cGa>cAa	p.R1607Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1607Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1607	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATATTCCTCGAGCACAGGTC	0.428000													17	32					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060579	111060579	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:111060579G>A	ENST00000369771.2	-	1	1218	c.831C>T	c.(829-831)acC>acT	p.T277T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	277						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACACGATGCAGGTAGACTCCA	0.512000													25	39					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84494279	84494279	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:84494279G>A	ENST00000416219.2	+	25	2529	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N	ATP2C2_ENST00000262429.4_Missense_Mutation_p.D785N|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	785					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGAGCCCGTTGACAAAGACGC	0.547000													12	117					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362286	83362286	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:83362286C>G	ENST00000296591.5	-	7	1209	c.791G>C	c.(790-792)gGc>gCc	p.G264A	EDIL3_ENST00000380138.3_Missense_Mutation_p.G254A|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	264	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCATTGGTGCCTTTCACTTT	0.343000													18	41					0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46511644	46511644	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:46511644C>G	ENST00000262741.5	-	9	1822	c.1133G>C	c.(1132-1134)gGt>gCt	p.G378A	PIK3R3_ENST00000420542.1_Missense_Mutation_p.G378A|PIK3R3_ENST00000540385.1_Missense_Mutation_p.G424A|PIK3R3_ENST00000372006.1_Missense_Mutation_p.G378A|PIK3R3_ENST00000423209.1_Missense_Mutation_p.G319A|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Missense_Mutation_p.G319A|PIK3R3_ENST00000340332.6_Missense_Mutation_p.G283A	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	378	SH2 2.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TAAGAATGCACCATCAGGTTT	0.413000													34	63					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262637	132262637	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:132262637C>T	ENST00000261674.4	+	14	2311	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	SFSWAP_ENST00000541286.1_Silent_p.L724L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	724					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CTGCCCTCTACTGACTGGAGG	0.423000													24	24					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294671	124294671	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:124294671C>A	ENST00000356130.3	-	1	118	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATAGATCCCTAAGAATAGA	0.453000													18	30					3.99206e-14	4.39816e-14	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155451320	155451320	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:155451320A>G	ENST00000461783.3	+	6	2236	c.963A>G	c.(961-963)gaA>gaG	p.E321E	TIAM2_ENST00000318981.5_Silent_p.E321E|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.E321E|TIAM2_ENST00000529824.2_Silent_p.E321E|TIAM2_ENST00000456144.1_Silent_p.E321E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	321					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)		TTTCTGATGAATACATGGGCA	0.562000													13	16					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55956123	55956123	+	Splice_Site	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:55956123A>G	ENST00000263923.4	-	23	3487	c.3192T>C	c.(3190-3192)gaT>gaC	p.D1064D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1064	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAAACTTACATCTCCTTTTC	0.393000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			24	50					0	0	1	0	0
BTF3L4	91408	broad.mit.edu	37	1	52530525	52530525	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:52530525T>C	ENST00000313334.8	+	3	351	c.83T>C	c.(82-84)gTa>gCa	p.V28A	BTF3L4_ENST00000484036.1_Missense_Mutation_p.V28A|BTF3L4_ENST00000489308.2_Missense_Mutation_p.V28A|BTF3L4_ENST00000472944.2_5'UTR|BTF3L4_ENST00000533836.1_3'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	28										endometrium(2)|kidney(1)|large_intestine(2)	5						AAGAAGGTGGTACATAGAACA	0.418000													9	41					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47783683	47783683	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr21:47783683A>G	ENST00000359568.5	+	14	2550	c.2443A>G	c.(2443-2445)Acg>Gcg	p.T815A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	815					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAGGTCCTTGACGGAGCAGCA	0.592000													7	56					0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87399901	87399901	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:87399901G>A	ENST00000338056.3	+	8	1096	c.685G>A	c.(685-687)Gat>Aat	p.D229N	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.D212N|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.D212N|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	229										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCCCAGTTCTGATAGTATCAG	0.388000													3	13					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235046	73235046	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:73235046G>T	ENST00000377110.3	-	15	2282	c.2039C>A	c.(2038-2040)gCc>gAc	p.A680D	TRPM3_ENST00000358082.3_Missense_Mutation_p.A542D|TRPM3_ENST00000396280.5_Missense_Mutation_p.A529D|TRPM3_ENST00000408909.2_Missense_Mutation_p.A539D|TRPM3_ENST00000423814.3_Missense_Mutation_p.A707D|TRPM3_ENST00000377105.1_Missense_Mutation_p.A539D|TRPM3_ENST00000377106.1_Missense_Mutation_p.A552D|TRPM3_ENST00000360823.2_Missense_Mutation_p.A542D|TRPM3_ENST00000396292.4_Missense_Mutation_p.A552D|TRPM3_ENST00000396285.1_Missense_Mutation_p.A527D|TRPM3_ENST00000357533.2_Missense_Mutation_p.A684D|TRPM3_ENST00000377111.2_Missense_Mutation_p.A680D			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTCTCAGAGGCCTCATGAGC	0.587000													4	30					0.00024832	0.00025544	1	1	0
PRR14	78994	broad.mit.edu	37	16	30664040	30664040	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:30664040A>T	ENST00000542965.2	+	3	648		c.e3-1		PRR14_ENST00000300835.4_Splice_Site			Q9BWN1	PRR14_HUMAN	proline rich 14											breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTTCTCTTCCAGGTCCCCGTG	0.587000													9	26					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338649	5338649	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:5338649G>T	ENST00000396872.3	+	8	1074	c.913G>T	c.(913-915)Gag>Tag	p.E305*	SLC29A4_ENST00000406453.3_Nonsense_Mutation_p.E291*|SLC29A4_ENST00000297195.4_Nonsense_Mutation_p.E305*			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGCCCCCAACGAGTCCCCAAA	0.692000													6	21					0.0215528	0.0217804	1	1	0
FOSL2	2355	broad.mit.edu	37	2	28616605	28616605	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:28616605C>T	ENST00000264716.4	+	1	881	c.18C>T	c.(16-18)ccC>ccT	p.P6P	AC104695.3_ENST00000427929.1_RNA|FOSL2_ENST00000460736.1_Intron|FOSL2_ENST00000379619.1_Intron|AC104695.3_ENST00000445878.1_RNA	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	6					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGGATTATCCCGGGAACTTTG	0.711000													4	5					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72288486	72288486	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:72288486T>C	ENST00000550746.1	+	8	793	c.729T>C	c.(727-729)taT>taC	p.Y243Y	TBC1D15_ENST00000319106.8_Silent_p.Y234Y|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Silent_p.Y226Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	243							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGACCCTTATACGGCAACTA	0.353000													16	26					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109927862	109927862	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:109927862A>G	ENST00000537063.1	+	8	920	c.683A>G	c.(682-684)cAc>cGc	p.H228R	UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000280774.5_Intron			Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAACACCTGCACTTGGATTTT	0.473000													18	18					0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85714467	85714467	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:85714467C>G	ENST00000526033.1	-	9	1151	c.835G>C	c.(835-837)Gaa>Caa	p.E279Q	PICALM_ENST00000528398.1_Missense_Mutation_p.E228Q|PICALM_ENST00000356360.5_Missense_Mutation_p.E279Q|PICALM_ENST00000393346.3_Missense_Mutation_p.E279Q|PICALM_ENST00000532317.1_Missense_Mutation_p.E279Q	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	279					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTTGTTCCAAAGCATCA	0.358000			T	"""MLLT10, MLL"""	"""TALL, AML, """								8	42					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70229858	70229858	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:70229858C>G	ENST00000399180.2	-	2	394	c.395G>C	c.(394-396)cGg>cCg	p.R132P	DNA2_ENST00000358410.3_Missense_Mutation_p.R46P|DNA2_ENST00000399179.2_Missense_Mutation_p.R46P			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	46					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CACCAGGTACCGGTTATCCAT	0.413000													6	18					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9590195	9590195	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:9590195G>A	ENST00000285199.7	+	8	1418	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.R441H	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCAAGGTCCGCCATCTTATG	0.552000													3	12					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54780385	54780385	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:54780385G>A	ENST00000218436.6	-	10	3245	c.3216C>T	c.(3214-3216)agC>agT	p.S1072S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1072					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGTGAAGATGCTAGGCAATG	0.527000													10	9					0	0	1	0	0
IGKV3-15	28913	broad.mit.edu	37	2	89384818	89384818	+	RNA	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:89384818A>G	ENST00000390252.2	-	0	296																											ACCATAGATGAGGAGCCTGGG	0.592000													25	25					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136742914	136742914	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:136742914C>T	ENST00000354570.3	-	2	501	c.91G>A	c.(91-93)Gat>Aat	p.D31N	MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.D16N|MAP7_ENST00000438100.2_Missense_Mutation_p.D53N|MAP7_ENST00000454590.1_Missense_Mutation_p.D53N	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	31					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTTTCTTATCTTGCACTTTG	0.383000													14	29					0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118499701	118499701	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:118499701G>C	ENST00000349139.5	+	25	2511	c.2464G>C	c.(2464-2466)Gaa>Caa	p.E822Q	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGAGCTGGAAGAATCTCTACT	0.338000													18	79					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385535	69385535	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:69385535C>T	ENST00000288025.3	-	1	177	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RP11-343C2.7_ENST00000564737.1_Silent_p.S33S|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	41					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						AAAGTCATATCGATCAGCTCC	0.522000													33	87					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138687884	138687884	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:138687884A>G	ENST00000520602.1	-	16	2010	c.1725T>C	c.(1723-1725)taT>taC	p.Y575Y	MCF2_ENST00000519895.1_Silent_p.Y591Y|MCF2_ENST00000338585.6_Silent_p.Y531Y|MCF2_ENST00000370573.4_Silent_p.Y515Y|MCF2_ENST00000414978.1_Silent_p.Y575Y|MCF2_ENST00000370578.4_Silent_p.Y660Y|MCF2_ENST00000370576.4_Silent_p.Y515Y|MCF2_ENST00000536274.1_Silent_p.Y476Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	515	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACAAAACAGTATACAGTTCTC	0.353000													35	113					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7918760	7918760	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:7918760A>G	ENST00000254854.4	+	15	3034	c.2884A>G	c.(2884-2886)Act>Gct	p.T962A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	962	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGCCGTGGGCACTTTCCGCAT	0.647000													7	13					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390881	78390881	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:78390881G>A	ENST00000238561.5	+	8	1039	c.940G>A	c.(940-942)Gta>Ata	p.V314I	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.V246I	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	321	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCCCGGCAATGTACTGGTGCG	0.572000													7	42					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570648	104570648	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:104570648C>T	ENST00000551177.1	+	8	853	c.761C>T	c.(760-762)gCc>gTc	p.A254V	ASPG_ENST00000546892.2_Missense_Mutation_p.A254V|ASPG_ENST00000455920.2_Missense_Mutation_p.A254V	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	254	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGGTTCGGGCCTTCTTGCAG	0.682000													8	16					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17771498	17771498	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:17771498T>C	ENST00000380043.3	+	7	1223	c.895T>C	c.(895-897)Tgc>Cgc	p.C299R	SCML1_ENST00000380045.3_Missense_Mutation_p.C205R|SCML1_ENST00000380041.3_Missense_Mutation_p.C326R|SCML1_ENST00000398080.1_Missense_Mutation_p.C205R	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	326	SAM.				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					ACAAGGAAAATGCTTTGAAAA	0.438000													18	53					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61187078	61187078	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:61187078C>T	ENST00000216513.4	-	2	1008	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	317						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GTGATGCCATCAGATGAACTG	0.458000													17	57					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940149	49940149	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:49940149G>A	ENST00000296474.3	-	1	921	c.894C>T	c.(892-894)ctC>ctT	p.L298L	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.L298L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	298	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATCTGCAGTCGAGGACCAGCT	0.667000													16	76					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786703	3786703	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:3786703T>C	ENST00000262367.5	-	27	5317	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	CREBBP_ENST00000382070.3_Missense_Mutation_p.Y1465C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1503	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.Y1503F(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATCTTTTTGTACCACTCCTG	0.507000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						32	57					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6826270	6826270	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:6826270G>A	ENST00000307659.5	+	3	545	c.90G>A	c.(88-90)atG>atA	p.M30I	KIAA0232_ENST00000425103.1_Missense_Mutation_p.M30I	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	30							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TTTCTGAAATGTCTCTGCTTC	0.468000													46	110					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143800283	143800283	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:143800283G>C	ENST00000367591.4	+	10	952	c.889G>C	c.(889-891)Gag>Cag	p.E297Q		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	297					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAATATGGCTGAGTTCTTTCG	0.318000													21	25					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27438821	27438821	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:27438821C>T	ENST00000527372.1	-	16	2839	c.2659G>A	c.(2659-2661)Gct>Act	p.A887T	MYO18A_ENST00000531253.1_Missense_Mutation_p.A887T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A887T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A887T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	887	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCACCAGAGCCTCCTCTTCC	0.592000											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	22					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16380202	16380202	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:16380202T>G	ENST00000375679.4	+	16	1802	c.1691T>G	c.(1690-1692)cTg>cGg	p.L564R	CLCNKB_ENST00000375667.3_Missense_Mutation_p.L395R	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GACATGCCACTGGAGGAGGTG	0.627000													5	27					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206224503	206224503	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:206224503T>C	ENST00000367126.4	+	1	528	c.63T>C	c.(61-63)aaT>aaC	p.N21N		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	21					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGCCCCCAATGCCACAACAC	0.657000													48	92					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56690865	56690865	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:56690865A>G	ENST00000389934.3	-	9	1039	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	TEX14_ENST00000349033.5_Missense_Mutation_p.C308R|TEX14_ENST00000240361.8_Missense_Mutation_p.C314R	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	314	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGAGAGACACACAGCCATC	0.483000													4	66					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30825275	30825275	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:30825275G>T	ENST00000383096.3	-	15	1709	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	CCDC178_ENST00000406524.2_Missense_Mutation_p.F509L|CCDC178_ENST00000402325.1_Missense_Mutation_p.F509L|CCDC178_ENST00000403303.1_Missense_Mutation_p.F509L|CCDC178_ENST00000300227.8_Missense_Mutation_p.F509L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.F509L|CCDC178_ENST00000583930.1_Missense_Mutation_p.F509L					coiled-coil domain containing 178																		TGGTTAGGTGGAAAAGAGTAC	0.328000													6	14					8.12818e-05	8.43685e-05	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142569514	142569514	+	Silent	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:142569514A>T	ENST00000359396.3	-	15	2369	c.2124T>A	c.(2122-2124)cgT>cgA	p.R708R		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	708	Interaction with calmodulin.				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGATTATCCCACGCAGGTCTC	0.562000													4	42					0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127520035	127520035	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:127520035G>A	ENST00000299130.3	+	5	470	c.458G>A	c.(457-459)tGt>tAt	p.C153Y	BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000368759.5_Missense_Mutation_p.C153Y|BCCIP_ENST00000278100.6_Missense_Mutation_p.C153Y|BCCIP_ENST00000429863.2_Missense_Mutation_p.C123Y	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	153	Interaction with BRCA2.				cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTACGCTTCTGTGAGAAGAAC	0.413000													9	62					0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121825300	121825300	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:121825300T>C	ENST00000330540.2	+	4	772	c.656T>C	c.(655-657)aTt>aCt	p.I219T	CD86_ENST00000493101.1_Missense_Mutation_p.I107T|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.I137T|CD86_ENST00000393627.2_Missense_Mutation_p.I213T	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	219	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	ATCTTCTGTATTCTGGAAACT	0.388000													54	119					0	0	1	0	0
MRPS24	64951	broad.mit.edu	37	7	43906362	43906362	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:43906362T>A	ENST00000317534.5	-	4	501	c.440A>T	c.(439-441)tAc>tTc	p.Y147F	URGCP-MRPS24_ENST00000603700.1_3'UTR	NM_032014.2	NP_114403.1	Q96EL2	RT24_HUMAN	mitochondrial ribosomal protein S24	147					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGGACATTTGTAAAAGTAGGA	0.483000													12	55					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511945	48511945	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:48511945C>T	ENST00000339841.2	+	2	199	c.21C>T	c.(19-21)taC>taT	p.Y7Y	ELSPBP1_ENST00000597519.1_Silent_p.Y7Y	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	7					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGTCCAGTTACCTGTTGGGAT	0.468000													10	10					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69343933	69343933	+	Missense_Mutation	SNP	T	T	A	rs146368799		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:69343933T>A	ENST00000193403.6	-	20	2769	c.2386A>T	c.(2386-2388)Atg>Ttg	p.M796L	ACTN1_ENST00000376839.3_Missense_Mutation_p.M726L|ACTN1_ENST00000438964.2_Missense_Mutation_p.M791L|ACTN1_ENST00000394419.4_Missense_Mutation_p.M818L|ACTN1_ENST00000538545.2_Missense_Mutation_p.M791L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	796	EF-hand 2.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACAATGCTCATGATGCGGGCA	0.562000													9	25					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43585846	43585846	+	RNA	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:43585846T>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AATCCTCCAATGTACCTGACT	0.493000													8	34					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409446	82409446	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:82409446T>C	ENST00000370728.1	+	8	1836	c.1191T>C	c.(1189-1191)ccT>ccC	p.P397P	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Silent_p.P397P|LPHN2_ENST00000370727.1_Silent_p.P397P|LPHN2_ENST00000370717.2_Silent_p.P397P|LPHN2_ENST00000370723.1_Silent_p.P397P|LPHN2_ENST00000319517.6_Silent_p.P397P|LPHN2_ENST00000359929.3_Silent_p.P397P|LPHN2_ENST00000370730.1_Silent_p.P397P|LPHN2_ENST00000370715.1_Silent_p.P397P|LPHN2_ENST00000335786.5_Silent_p.P397P|LPHN2_ENST00000370713.1_Silent_p.P397P|LPHN2_ENST00000394879.1_Silent_p.P397P|LPHN2_ENST00000370725.1_Silent_p.P397P|LPHN2_ENST00000370721.1_Silent_p.P401P			O95490	LPHN2_HUMAN	latrophilin 2	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CACCTGATCCTGCCCAAGGTA	0.348000													13	69					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232119	132232119	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:132232119C>G	ENST00000265343.5	-	11	2582	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	AFF4_ENST00000378595.3_Missense_Mutation_p.E735Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	735					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGGCGGCTCTGTTTCTTTG	0.453000													30	59					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111637044	111637044	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:111637044C>T	ENST00000527614.1	-	1	107	c.42G>A	c.(40-42)gcG>gcA	p.A14A	PPP2R1B_ENST00000311129.5_Silent_p.A14A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Silent_p.A14A|PPP2R1B_ENST00000393055.2_Silent_p.A14A|PPP2R1B_ENST00000426998.2_Silent_p.A14A	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	14							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CATCTCCACCCGCTGCTCCTG	0.667000													6	32					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387236	45387236	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:45387236G>A	ENST00000389039.6	-	32	4678	c.4293C>T	c.(4291-4293)gaC>gaT	p.D1431D	DUOX2_ENST00000603300.1_Silent_p.D1431D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1431					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGGATGATGTCAGCCAGCC	0.572000													3	23					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179184	100179184	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:100179184G>A	ENST00000524871.1	+	21	3004	c.2714G>A	c.(2713-2715)aGa>aAa	p.R905K	CNTN5_ENST00000528682.1_Missense_Mutation_p.R905K|CNTN5_ENST00000527185.1_Missense_Mutation_p.R905K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.R831K|CNTN5_ENST00000279463.3_Missense_Mutation_p.R905K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	905	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCTAGGAAGACCACAGGGA	0.428000													5	17					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45332609	45332609	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:45332609A>T	ENST00000267814.9	+	2	250	c.70A>T	c.(70-72)Aac>Tac	p.N24Y	SORD_ENST00000558580.1_Missense_Mutation_p.N3Y	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	24					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	CTTTTAGGAGAACTATCCTAT	0.308000													11	29					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384769	41384769	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:41384769C>G	ENST00000301146.4	-	5	1268	c.727G>C	c.(727-729)Ggg>Cgg	p.G243R	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G192R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	243						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCTCCAGCCCTTGCAGCAAC	0.537000													9	24					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86465051	86465051	+	Silent	SNP	G	G	A	rs144826636		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:86465051G>A	ENST00000297814.2	-	16	3662	c.3519C>T	c.(3517-3519)caC>caT	p.H1173H	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Silent_p.H1076H|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Silent_p.H1107H|RP11-575L7.4_ENST00000589817.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1173					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCTTTTGTTCGTGTTCCTTTT	0.418000													48	60					0	0	1	0	0
ATP5S	27109	broad.mit.edu	37	14	50788199	50788199	+	Splice_Site	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:50788199A>C	ENST00000245448.6	+	2	732		c.e2-1		ATP5S_ENST00000311459.7_Splice_Site|ATP5S_ENST00000426751.2_Splice_Site|ATP5S_ENST00000358473.1_Intron|ATP5S_ENST00000554438.1_Splice_Site	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)						ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		TTGTGTGTCTAGATCAAATGA	0.418000													8	36					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46303791	46303791	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:46303791C>T	ENST00000221538.3	-	5	1971	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	RSPH6A_ENST00000600188.1_Missense_Mutation_p.R346H|RSPH6A_ENST00000597055.1_Missense_Mutation_p.R610H	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	610	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GCAGGACAGGCGGGTGGTCCA	0.667000													8	21					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103596086	103596086	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:103596086C>T	ENST00000560869.1	+	4	1509	c.870C>T	c.(868-870)atC>atT	p.I290I	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.I290I			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	290					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			GTGACATCATCAACAGCCCCA	0.617000													8	19					0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:119048716G>A	ENST00000371431.3	+	5	590	c.316G>A	c.(316-318)Gac>Aac	p.D106N	AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron|AKAP14_ENST00000371425.4_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408000													21	87					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156721097	156721097	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:156721097C>T	ENST00000264424.8	+	9	1128	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	GUCY1B3_ENST00000507146.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.T371M|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.T281M|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.T329M|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.T349M	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	349					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CATGATGCCACGCGCGATCTT	0.468000													4	32					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918486	43918486	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:43918486G>A	ENST00000336086.6	-	4	2683	c.447C>T	c.(445-447)ctC>ctT	p.L149L	URGCP_ENST00000223341.7_Silent_p.L149L|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Silent_p.L149L|URGCP_ENST00000447717.3_Silent_p.L149L|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.L183L|URGCP_ENST00000453200.1_Silent_p.L192L			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	192					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCTGAGGAGAGCAGCAGGG	0.527000													10	27					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374220	95374220	+	RNA	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:95374220T>C	ENST00000494840.1	-	0	1641					NR_077228.1																						CCCACGTATGTGCAGTGACAT	0.423000													7	36					0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50283285	50283285	+	Silent	SNP	G	G	A	rs139044559		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:50283285G>A	ENST00000320634.3	-	9	724	c.630C>T	c.(628-630)acC>acT	p.T210T	FAIM2_ENST00000550890.1_Silent_p.T164T	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	210					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AGCTGAAGACGGTGACTGAGA	0.652000													12	19					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57574709	57574709	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:57574709C>G	ENST00000267811.5	+	19	2277	c.1973C>G	c.(1972-1974)tCg>tGg	p.S658W	TCF12_ENST00000343827.3_Missense_Mutation_p.S488W|TCF12_ENST00000452095.2_Missense_Mutation_p.S678W|TCF12_ENST00000333725.5_Missense_Mutation_p.S682W|TCF12_ENST00000557843.1_Missense_Mutation_p.S658W|TCF12_ENST00000543579.1_Missense_Mutation_p.S512W|TCF12_ENST00000537840.1_Missense_Mutation_p.S422W|TCF12_ENST00000559710.1_Missense_Mutation_p.S292W|TCF12_ENST00000438423.2_Missense_Mutation_p.S682W|TCF12_ENST00000559703.1_Missense_Mutation_p.S315W	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	658					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTGCCGTATCGGCAGAGCCG	0.478000			T	TEC	extraskeletal myxoid chondrosarcoma								18	104					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48241511	48241511	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:48241511C>T	ENST00000400384.2	+	3	1645	c.609C>T	c.(607-609)ccC>ccT	p.P203P	MAPK4_ENST00000540640.1_5'UTR|MAPK4_ENST00000592595.1_Silent_p.P203P	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	203	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCCTTTCCCCCAATAACTACA	0.502000													3	39					0	0	1	0	0
CRTAM	56253	broad.mit.edu	37	11	122742105	122742105	+	Nonstop_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:122742105T>C	ENST00000227348.4	+	10	1227	c.1180T>C	c.(1180-1182)Tag>Cag	p.*394Q	CRTAM_ENST00000533709.1_Nonstop_Mutation_p.*195Q	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	0					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGTATTGTGTAGTGCTCTCT	0.418000													7	28					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65919001	65919001	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:65919001G>A	ENST00000321892.4	+	16	6042	c.5981G>A	c.(5980-5982)cGg>cAg	p.R1994Q	BPTF_ENST00000306378.6_Missense_Mutation_p.R1868Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R1855Q|BPTF_ENST00000335221.5_Missense_Mutation_p.R1994Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1994					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTGCACTGCGGCCAAAGAGA	0.433000													11	56					0	0	1	0	0
PKIA	5569	broad.mit.edu	37	8	79510686	79510686	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:79510686A>G	ENST00000396418.2	+	3	553	c.67A>G	c.(67-69)Ata>Gta	p.I23V	PKIA_ENST00000518467.1_Missense_Mutation_p.I23V|PKIA_ENST00000352966.5_Missense_Mutation_p.I23V	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	23							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						AAGAAATGCAATACATGATAT	0.398000													21	74					0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27016985	27016985	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:27016985A>G	ENST00000443698.1	+	11	1041	c.870A>G	c.(868-870)caA>caG	p.Q290Q	IFT74_ENST00000433700.1_Silent_p.Q290Q|IFT74_ENST00000380062.5_Silent_p.Q290Q|IFT74_ENST00000429045.2_Silent_p.Q290Q	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	290						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ATCGAGATCAAATGATTGCAG	0.403000													17	43					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5812138	5812138	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:5812138A>G	ENST00000382674.2	+	20	3039	c.2855A>G	c.(2854-2856)gAg>gGg	p.E952G	EVC_ENST00000264956.6_Missense_Mutation_p.E952G			P57679	EVC_HUMAN	Ellis van Creveld syndrome	952					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAACAATGAGGACCTTGCC	0.592000													4	9					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177936929	177936929	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:177936929C>A	ENST00000308284.6	-	2	277	c.188G>T	c.(187-189)aGg>aTg	p.R63M	SEC16B_ENST00000464631.2_Missense_Mutation_p.R63M|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	63	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATGGTCTGCCCTGGGCTCCTG	0.572000													25	30					1.64293e-13	1.8066e-13	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31476378	31476378	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:31476378A>G	ENST00000457010.2	+	4	2735	c.2034A>G	c.(2032-2034)ccA>ccG	p.P678P	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000408912.3_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	529							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGTCCCTCCATGGGCCCACA	0.647000													11	14					0	0	1	0	0
EMC9	51016	broad.mit.edu	37	14	24610507	24610507	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:24610507C>T	ENST00000419198.2	-	1	287	c.7G>A	c.(7-9)Gag>Aag	p.E3K	EMC9_ENST00000216799.4_Missense_Mutation_p.E3K|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR					ER membrane protein complex subunit 9																		ATCTCCACCTCCCCCATGGCG	0.667000											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888152	7888152	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:7888152C>A	ENST00000332175.8	+	3	1282	c.245C>A	c.(244-246)gCc>gAc	p.A82D	PTPRM_ENST00000400053.4_Missense_Mutation_p.A20D|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82D|PTPRM_ENST00000580170.1_Missense_Mutation_p.A82D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	82	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGCAGAGAGCCCACCTGCTC	0.458000													28	96					5.61819e-17	6.22556e-17	1	1	0
MCM5	4174	broad.mit.edu	37	22	35812629	35812629	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:35812629A>T	ENST00000216122.4	+	12	1567		c.e12-1		MCM5_ENST00000382011.5_Splice_Site|MCM5_ENST00000465557.1_Splice_Site	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCGCCTGTTAGGCTGGGATC	0.552000													7	27					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231061312	231061312	+	Silent	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:231061312C>G	ENST00000366661.4	-	13	1546	c.1539G>C	c.(1537-1539)ctG>ctC	p.L513L	TTC13_ENST00000366662.4_Silent_p.L460L|TTC13_ENST00000414259.1_Silent_p.L460L	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	513							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CATATTGCATCAGGGATCCCA	0.403000													21	59					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218285	134218285	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:134218285C>G	ENST00000305233.5	+	2	340	c.281C>G	c.(280-282)cCc>cGc	p.P94R	PWWP2B_ENST00000368609.4_Missense_Mutation_p.P94R	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	94	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GTTCAGCCCCCCGAGACCACC	0.746000													5	9					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458277	66458277	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:66458277G>A	ENST00000246868.2	-	3	569	c.386C>T	c.(385-387)aCc>aTc	p.T129I		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	129					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						AAGGATCACGGTGTATGGTCT	0.413000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				24	144					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127965871	127965871	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:127965871C>T	ENST00000223073.2	-	11	1317	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	RBM28_ENST00000415472.2_Splice_Site_p.E260E	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCTTCCTTACCTCATTCTCTG	0.408000													4	30					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103411545	103411545	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:103411545C>A	ENST00000493442.1	+	1	245	c.79C>A	c.(79-81)Cct>Act	p.P27T		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	27										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCTGGGACCTCCTCGCGGGGT	0.672000													3	8					0.115264	0.115667	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42237328	42237328	+	Translation_Start_Site	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:42237328T>C	ENST00000541110.1	-	5	569	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRERF1_ENST00000372922.4_Start_Codon_SNP_p.M1V|TRERF1_ENST00000354325.2_Start_Codon_SNP_p.M1V|TRERF1_ENST00000372917.4_Start_Codon_SNP_p.M1V|TRERF1_ENST00000340840.2_Start_Codon_SNP_p.M1V			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTCACCCATGCTGTCTGCC	0.483000													31	16					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56497762	56497762	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:56497762T>C	ENST00000370754.5	-	27	3595	c.3596A>G	c.(3595-3597)gAa>gGa	p.E1199G	DST_ENST00000244364.6_Missense_Mutation_p.E695G|DST_ENST00000518935.1_Missense_Mutation_p.E695G|DST_ENST00000370788.2_Missense_Mutation_p.E1021G|DST_ENST00000312431.6_Missense_Mutation_p.E1021G|DST_ENST00000361203.3_Missense_Mutation_p.E1021G|DST_ENST00000370769.4_Missense_Mutation_p.E1021G|DST_ENST00000370765.6_Missense_Mutation_p.E695G|DST_ENST00000421834.2_Missense_Mutation_p.E1021G|DST_ENST00000446842.2_Missense_Mutation_p.E695G			Q03001	DYST_HUMAN	dystonin	1021					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGGCTATCTTCCAGAAAATC	0.358000													22	49					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66410116	66410116	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:66410116G>A	ENST00000341567.4	+	3	568	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_017994.4	NP_060464.1			transmembrane protein 248																		CCAGGCCCTGGAGGACTCGGG	0.577000													18	43					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89961457	89961457	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:89961457G>C	ENST00000263346.8	+	8	896	c.840G>C	c.(838-840)caG>caC	p.Q280H	TCF25_ENST00000263347.7_Missense_Mutation_p.Q45H	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	280					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TTCTGCTCCAGACGAGCCCTT	0.562000													17	29					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124103676	124103676	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:124103676G>T	ENST00000286713.2	-	7	688	c.671C>A	c.(670-672)gCc>gAc	p.A224D	STOM_ENST00000538954.1_Missense_Mutation_p.A173D|AL161784.1_ENST00000594963.1_Missense_Mutation_p.A18S|STOM_ENST00000347359.2_Missense_Mutation_p.A59D	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	224					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTCTCCTTCGGCTGCAATAAC	0.522000													27	36					8.24728e-16	9.12127e-16	1	1	0
PHTF2	57157	broad.mit.edu	37	7	77549629	77549629	+	Silent	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:77549629A>T	ENST00000416283.2	+	8	834	c.708A>T	c.(706-708)tcA>tcT	p.S236S	PHTF2_ENST00000422959.2_Silent_p.S236S|PHTF2_ENST00000424760.1_Silent_p.S232S|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Silent_p.S232S|PHTF2_ENST00000248550.7_Silent_p.S270S|PHTF2_ENST00000415251.2_Silent_p.S232S|PHTF2_ENST00000307305.8_Silent_p.S232S|PHTF2_ENST00000450574.1_Silent_p.S236S	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTGATAAATCAACTGAAACTG	0.328000													6	18					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419246	55419246	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:55419246T>A	ENST00000312422.2	+	1	867	c.867T>A	c.(865-867)aaT>aaA	p.N289K		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CACTGAGAAATGCAGAAGTAA	0.383000													4	238					0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2861179	2861179	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:2861179C>T	ENST00000545496.1	-	9	1419	c.1128G>A	c.(1126-1128)acG>acA	p.T376T	ARSE_ENST00000381134.3_Silent_p.T351T|ARSE_ENST00000540563.1_Silent_p.T306T	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	351					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGATCCGACGTAAAATAAA	0.473000													9	43					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175583	19175583	+	Silent	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:19175583C>A	ENST00000263200.10	-	28	4416	c.4344G>T	c.(4342-4344)gtG>gtT	p.V1448V	CLTCL1_ENST00000353891.5_Silent_p.V1448V|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Silent_p.V1448V	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1448	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGTAAGGCTTCACCAGGGGCA	0.582000			T	?	ALCL								41	85					2.19962e-31	2.46598e-31	1	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155922566	155922566	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:155922566C>A	ENST00000462460.2	-	19	2226	c.1972G>T	c.(1972-1974)Ggg>Tgg	p.G658W	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.G585W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G585W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.G614W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G613W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G612W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCAAACAGCCCGACCTTCTCT	0.602000													4	34					5.9392e-07	6.28985e-07	1	1	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119393	32119393	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr21:32119393T>C	ENST00000333892.2	-	1	158	c.128A>G	c.(127-129)tAt>tGt	p.Y43C		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	43						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						gccagttccatagccagagcc	0.557000													16	45					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	410401	410401	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:410401A>C	ENST00000280886.6	-	20	2477	c.2390T>G	c.(2389-2391)aTg>aGg	p.M797R	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.M118R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	797						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTGACCACCATGAGGCCATC	0.617000													17	25					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59001827	59001827	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:59001827G>T	ENST00000589222.1	+	13	1121	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	BCAS3_ENST00000585744.1_Missense_Mutation_p.E122D|BCAS3_ENST00000588462.1_Missense_Mutation_p.E351D|BCAS3_ENST00000407086.3_Missense_Mutation_p.E351D|BCAS3_ENST00000390652.5_Missense_Mutation_p.E351D|BCAS3_ENST00000588874.1_Missense_Mutation_p.E122D|BCAS3_ENST00000408905.3_Missense_Mutation_p.E351D			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	351						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGCCCATGAGAAGCCAGTGT	0.393000													16	33					4.7546e-09	5.1012e-09	1	1	0
FAT2	2196	broad.mit.edu	37	5	150925519	150925519	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:150925519G>C	ENST00000261800.5	-	9	5181	c.5169C>G	c.(5167-5169)atC>atG	p.I1723M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1723	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTAAGACGAGATTTTCTCAT	0.408000													24	50					0	0	1	0	0
TREX2	11219	broad.mit.edu	37	X	152713230	152713230	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:152713230C>T	ENST00000334497.2	-	10	1212	c.71G>A	c.(70-72)cGt>cAt	p.R24H	TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000393862.2_5'UTR|HAUS7_ENST00000370211.4_3'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000414588.1_Missense_Mutation_p.V8I|TREX2_ENST00000370232.1_Missense_Mutation_p.R24H|TREX2_ENST00000402951.1_Missense_Mutation_p.R24H|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	24					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCTGCAACGGCTTCTGCT	0.587000								Editing and processing nucleases					71	126					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420506	43420506	+	Translation_Start_Site	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:43420506G>C	ENST00000601833.1	-	0	1268				PSG6_ENST00000187910.2_Missense_Mutation_p.I66M|PSG6_ENST00000402603.4_Missense_Mutation_p.I66M|PSG6_ENST00000292125.2_Missense_Mutation_p.I66M					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CTTTGTACCAGATGTAGCCAG	0.448000													65	223					0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134552526	134552526	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:134552526G>C	ENST00000361388.2	+	3	508	c.42G>C	c.(40-42)aaG>aaC	p.K14N	CALD1_ENST00000417172.1_Missense_Mutation_p.K14N|CALD1_ENST00000361901.2_Missense_Mutation_p.K14N|CALD1_ENST00000422748.1_Missense_Mutation_p.K14N|CALD1_ENST00000361675.2_Missense_Mutation_p.K14N	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	14					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAGGCAAAAGAGGGAGGAGA	0.458000													4	19					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941329	22941329	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:22941329G>A	ENST00000397104.3	-	5	1108	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V	ZNF99_ENST00000596209.1_Missense_Mutation_p.A461V					zinc finger protein 99											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)				ATTGCTAAAAGCTTTGCTGCA	0.368000													20	33					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156955941	156955941	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:156955941T>C	ENST00000368194.3	-	2	1096	c.57A>G	c.(55-57)ggA>ggG	p.G19G	ARHGEF11_ENST00000361409.2_Silent_p.G19G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	19					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGCAGAATCTCCCAGAGAAG	0.522000													13	38					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAAATATACGGTAGGGCACA	0.438000													9	73					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21939629	21939629	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:21939629G>T	ENST00000328843.6	+	82	13246	c.13215G>T	c.(13213-13215)gaG>gaT	p.E4405D	DNAH11_ENST00000409508.3_Missense_Mutation_p.E4398D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4405					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAAAAATGAGTGGCCCCTGG	0.443000									Kartagener syndrome				13	27					1.15088e-07	1.22334e-07	1	1	0
SSBP4	170463	broad.mit.edu	37	19	18538730	18538730	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:18538730G>T	ENST00000270061.7	+	4	511	c.217G>T	c.(217-219)Gcg>Tcg	p.A73S	SSBP4_ENST00000598159.2_3'UTR|SSBP4_ENST00000348495.6_Missense_Mutation_p.A73S	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCTGTACTGCGCGGCGCCTGA	0.667000													3	36					0.014758	0.0149402	1	1	0
ALG9	79796	broad.mit.edu	37	11	111724209	111724209	+	Splice_Site	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:111724209C>T	ENST00000524880.1	-	12	1782		c.e12-1		ALG9_ENST00000531154.1_Splice_Site|ALG9_ENST00000398006.2_Splice_Site|ALG9_ENST00000527228.1_Splice_Site			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CCACAGGCACCTAAAACAGAG	0.368000													11	29					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40627508	40627508	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:40627508C>T	ENST00000397536.2	-	7	861	c.826G>A	c.(826-828)Gag>Aag	p.E276K	C15orf52_ENST00000559313.1_Missense_Mutation_p.E486K			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	486										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCTCCGGGCTCTGGGAGCCCT	0.662000													11	50					0	0	1	0	0
PITX2	5308	broad.mit.edu	37	4	111542403	111542403	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:111542403T>C	ENST00000354925.2	-	6	2012	c.307A>G	c.(307-309)Act>Gct	p.T103A	PITX2_ENST00000394595.3_Intron|PITX2_ENST00000306732.3_Missense_Mutation_p.T110A|PITX2_ENST00000557119.2_Missense_Mutation_p.T110A|PITX2_ENST00000394598.2_Missense_Mutation_p.T103A|PITX2_ENST00000355080.5_Missense_Mutation_p.T57A	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	103					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCTGGAAAGTGGCCTCCAGC	0.612000													7	31					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33214834	33214834	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:33214834C>T	ENST00000396033.2	-	6	886	c.751G>A	c.(751-753)Ggt>Agt	p.G251S	ITGB1_ENST00000302278.3_Missense_Mutation_p.G251S|ITGB1_ENST00000374956.4_Missense_Mutation_p.G251S|ITGB1_ENST00000423113.1_Missense_Mutation_p.G251S	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	251	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				GCATCGAAACCACCTTCTGGA	0.368000													18	40					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141558	5141558	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:5141558A>G	ENST00000380554.3	+	5	1139	c.487A>G	c.(487-489)Att>Gtt	p.I163V	AKR1C3_ENST00000439082.2_Missense_Mutation_p.I44V|AKR1C3_ENST00000605149.1_Missense_Mutation_p.I140V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	163					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGCCAAGTCCATTGGGGTGTC	0.517000													10	63					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44714125	44714125	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:44714125G>A	ENST00000222673.5	+	7	946	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	OGDH_ENST00000443864.2_Missense_Mutation_p.V302M|OGDH_ENST00000444676.1_Missense_Mutation_p.V317M|OGDH_ENST00000439616.2_Missense_Mutation_p.V152M|OGDH_ENST00000447398.1_Missense_Mutation_p.V313M|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000543843.1_Missense_Mutation_p.V253M|OGDH_ENST00000449767.1_Missense_Mutation_p.V298M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	302					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGAGAATGGCGTGGACTACGT	0.562000													14	38					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	68937665	68937665	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr15:68937665G>C	ENST00000543950.1	+	2	521	c.167G>C	c.(166-168)gGg>gCg	p.G56A	CORO2B_ENST00000540068.1_Missense_Mutation_p.G56A|CORO2B_ENST00000566799.1_Missense_Mutation_p.G61A|CORO2B_ENST00000261861.5_Missense_Mutation_p.G56A	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	61					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAGAGCGCAGGGGGCGGCTCC	0.627000													9	31					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239952	3239952	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:3239952G>A	ENST00000217939.6	-	5	3928	c.3774C>T	c.(3772-3774)agC>agT	p.S1258S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1258						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGAGAAGGGCTGGGCTTGG	0.453000													35	85					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244587308	244587308	+	Silent	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:244587308C>A	ENST00000366535.3	-	6	844	c.528G>T	c.(526-528)cgG>cgT	p.R176R	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	176					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TGAGTCCACTCCGAGCAGCTT	0.398000													3	17					6.4e-05	6.65654e-05	1	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100452336	100452336	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:100452336A>G	ENST00000279907.7	-	14	2931	c.2719T>C	c.(2719-2721)Tct>Cct	p.S907P	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S557P	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	907										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGAAGACAAAAAATCC	0.363000													15	22					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371521	139371521	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:139371521C>A	ENST00000313050.7	-	1	620	c.547G>T	c.(547-549)Gac>Tac	p.D183Y	SEC16A_ENST00000371706.3_Missense_Mutation_p.D5Y|SEC16A_ENST00000290037.6_Missense_Mutation_p.D5Y|SEC16A_ENST00000431893.2_Missense_Mutation_p.D5Y	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	5					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGGGTCGGTCGAGCCCAGGC	0.597000													6	69					2.7689e-08	2.95418e-08	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268292	21268292	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:21268292T>A	ENST00000602326.1	-	12	1788	c.1205A>T	c.(1204-1206)gAa>gTa	p.E402V	EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E402V|EIF4G3_ENST00000374927.4_Missense_Mutation_p.E396V|EIF4G3_ENST00000356916.3_Missense_Mutation_p.E407V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.E396V|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E396V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	396					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTTTCATTTCTTCTGGGGG	0.468000													7	66					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63971066	63971066	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:63971066A>G	ENST00000358794.5	+	13	2225	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	STIP1_ENST00000538945.1_Missense_Mutation_p.M487V|STIP1_ENST00000305218.4_Missense_Mutation_p.M511V	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	511					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CCTGGAACAGATGCAGAAGGA	0.602000													7	31					0	0	1	0	0
MBD1	4152	broad.mit.edu	37	18	47797837	47797837	+	Splice_Site	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr18:47797837A>T	ENST00000269468.5	-	16	2287		c.e16+1		MBD1_ENST00000585595.1_Splice_Site|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000347968.3_Splice_Site|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000398495.2_3'UTR|MBD1_ENST00000424334.2_Splice_Site|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000436910.1_Splice_Site|MBD1_ENST00000457839.2_3'UTR|MBD1_ENST00000349085.2_Splice_Site|MBD1_ENST00000382948.5_Splice_Site|MBD1_ENST00000353909.3_Splice_Site|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000339998.6_Intron	NM_015846.3	NP_056671.2	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TGCAAATATCACCTTGAATCC	0.478000													45	120					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110344425	110344425	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:110344425C>A	ENST00000312777.5	+	5	719	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	TCHP_ENST00000405876.4_Missense_Mutation_p.Q169K	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	169	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TTGGGAAATGCAGAAAGAAGA	0.483000													4	17					0.000602214	0.000618374	1	1	0
HK2	3099	broad.mit.edu	37	2	75109301	75109301	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:75109301A>T	ENST00000290573.2	+	12	2374	c.1774A>T	c.(1774-1776)Aag>Tag	p.K592*	HK2_ENST00000409174.1_Nonsense_Mutation_p.K564*	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	592	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CATGGGCATGAAGGGCGTGTC	0.607000													5	32					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8996041	8996041	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:8996041T>C	ENST00000344836.4	-	18	2143	c.1945A>G	c.(1945-1947)Att>Gtt	p.I649V	USP7_ENST00000381886.4_Missense_Mutation_p.I633V|USP7_ENST00000535863.1_Missense_Mutation_p.I550V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	649	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTGAGCTCAATCATCTATTTC	0.408000													20	41					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21139390	21139390	+	Silent	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:21139390T>A	ENST00000377122.4	-	11	1446	c.1050A>T	c.(1048-1050)ccA>ccT	p.P350P	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	350					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTCAAGCATTGGCTTTCCCT	0.323000													23	39					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50824135	50824135	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr10:50824135G>T	ENST00000395562.2	+	2	506	c.37G>T	c.(37-39)Gta>Tta	p.V13L	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000460699.1_Intron|CHAT_ENST00000337653.2_Intron|CHAT_ENST00000351556.3_Intron|CHAT_ENST00000395559.2_Intron|CHAT_ENST00000339797.1_Intron	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACTGAGCACAGTAGGTATGGT	0.507000													23	46					2.48779e-11	2.71482e-11	1	1	0
ACRC	93953	broad.mit.edu	37	X	70823546	70823546	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:70823546A>G	ENST00000373695.1	+	7	956	c.419A>G	c.(418-420)gAc>gGc	p.D140G	ACRC_ENST00000373696.3_Missense_Mutation_p.D140G			Q96QF7	ACRC_HUMAN	acidic repeat containing	140	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GAAGTTCCCGACGACAACAGT	0.483000													76	168					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644182	82644182	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:82644182A>C	ENST00000533655.1	+	6	2014	c.1802A>C	c.(1801-1803)aAt>aCt	p.N601T	C11orf82_ENST00000329143.3_Missense_Mutation_p.N300T|C11orf82_ENST00000430323.2_Missense_Mutation_p.N601T|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	601					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AGGAAGTATAATGATGTCTCT	0.313000													6	38					0	0	1	0	0
CELA2B	51032	broad.mit.edu	37	1	15812408	15812408	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:15812408T>C	ENST00000375910.3	+	6	531	c.506T>C	c.(505-507)cTc>cCc	p.L169P		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AACGGGGCTCTCCCTGATGAC	0.562000													39	99					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206605263	206605263	+	Silent	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:206605263T>C	ENST00000360409.3	+	8	1958	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	NRP2_ENST00000357118.4_Silent_p.D389D|NRP2_ENST00000355117.4_Silent_p.D389D|NRP2_ENST00000272849.3_Silent_p.D389D|NRP2_ENST00000540841.1_Silent_p.D389D|NRP2_ENST00000417189.1_Silent_p.D389D|NRP2_ENST00000412873.2_Silent_p.D389D|NRP2_ENST00000357785.5_Silent_p.D389D|NRP2_ENST00000540178.1_Silent_p.D389D	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	389	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCAACAACGATGCAACTGAGG	0.507000													11	25					0	0	1	0	0
C1QTNF3-AMACR	100534612	broad.mit.edu	37	5	34033491	34033491	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:34033491C>T	ENST00000382079.3	-	3	295	c.221G>A	c.(220-222)gGt>gAt	p.G74D	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.G90D|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.G163D						90																	CCCCAGGTCACCTTTGTCGCC	0.552000													4	59					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236306309	236306309	+	Silent	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:236306309C>G	ENST00000366592.3	+	1	478	c.387C>G	c.(385-387)ctC>ctG	p.L129L	GPR137B_ENST00000366591.4_Silent_p.L129L	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	129						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TTTTCACCCTCACGCTGATGA	0.612000													11	72					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25291229	25291229	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:25291229C>T	ENST00000400358.4	+	18	2050	c.1993C>T	c.(1993-1995)Ctg>Ttg	p.L665L	SGSM1_ENST00000400359.4_Silent_p.L720L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	720	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GAACATCCGCCTGCACAGCGA	0.647000													4	5					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118972285	118972285	+	Silent	SNP	G	G	C	rs145055477		TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:118972285G>C	ENST00000409993.2	-	3	1632	c.81C>G	c.(79-81)acC>acG	p.T27T	DPAGT1_ENST00000354202.4_Silent_p.T27T|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	27					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCGGGATGAGGGTGACTGTGG	0.617000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	70					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35949913	35949913	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:35949913T>G	ENST00000490799.1	-	8	1363	c.1010A>C	c.(1009-1011)gAc>gCc	p.D337A	SLC26A8_ENST00000355574.2_Missense_Mutation_p.D337A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.D232A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	337					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGGAATCATGTCAATAAGCGT	0.423000													22	50					0	0	1	0	0
AKTIP	64400	broad.mit.edu	37	16	53526354	53526354	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:53526354G>A	ENST00000394657.7	-	10	1023	c.849C>T	c.(847-849)ttC>ttT	p.F283F	AKTIP_ENST00000300245.4_Silent_p.F284F|AKTIP_ENST00000570004.1_Silent_p.F283F	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTCTTTACTGAAAGGCTGTA	0.463000													13	66					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121741723	121741723	+	Missense_Mutation	SNP	G	G	C	rs146679922	byFrequency	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:121741723G>C	ENST00000393376.1	-	11	1385	c.1290C>G	c.(1288-1290)gaC>gaG	p.D430E	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.D430E			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	430	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCTGTGTCGCGTCTGATAATA	0.323000													5	31					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6715471	6715471	+	Silent	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:6715471A>C	ENST00000309577.6	-	2	232	c.69T>G	c.(67-69)ctT>ctG	p.L23L	CHD4_ENST00000544040.1_Silent_p.L23L|CHD4_ENST00000544484.1_Silent_p.L23L|CHD4_ENST00000357008.2_Silent_p.L23L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	23					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGTTGTTCAAAAGTGCATCCA	0.657000													12	17					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431764	4431764	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:4431764G>A	ENST00000304735.3	+	2	1041	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	296						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						GCTGGCAGCTGCCCGCAACCC	0.697000													6	21					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67430091	67430091	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:67430091T>C	ENST00000355520.5	-	9	1377	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	OPHN1_ENST00000540071.1_Missense_Mutation_p.M246V	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	246					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGTTCTTCCATCTCTTCCCGG	0.373000													11	20					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123210199	123210199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:123210199G>T	ENST00000371160.1	+	26	2841	c.2551G>T	c.(2551-2553)Gaa>Taa	p.E851*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.E851*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E851*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E782*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	851					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAAGAGGATGAAGCCAGTAA	0.348000													12	74					0.000151284	0.000156182	1	1	0
MAMDC2	256691	broad.mit.edu	37	9	72840727	72840727	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:72840727A>C	ENST00000377182.4	+	13	2590	c.1973A>C	c.(1972-1974)aAa>aCa	p.K658T	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	658	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GATGATGTTAAATTTCAGGCA	0.318000													5	30					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96624901	96624901	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:96624901G>A	ENST00000376747.3	-	11	1187	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	373					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGCCTGGCTGAATTTTAAAT	0.338000													11	26					0	0	1	0	0
RAB14	51552	broad.mit.edu	37	9	123953011	123953011	+	Splice_Site	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:123953011T>G	ENST00000373840.4	-	4	344		c.e4-2			NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family						embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CAGCCATAACTGTTAAGGAGG	0.358000													12	40					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411650	2411650	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:2411650G>A	ENST00000449969.1	+	4	624	c.463G>A	c.(463-465)Gac>Aac	p.D155N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D182N|PLCH2_ENST00000419816.2_Missense_Mutation_p.D182N|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378488.3_Missense_Mutation_p.D182N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	182	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGACGAGGCCGACAAGAACGG	0.617000													16	47					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404582	124404582	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:124404582T>C	ENST00000303921.2	-	1	1099	c.449A>G	c.(448-450)gAg>gGg	p.E150G		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	150						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTCTTCCTCCTCTGAGATCTG	0.607000													18	66					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25820123	25820123	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:25820123G>T	ENST00000428257.1	-	2	295	c.188C>A	c.(187-189)aCt>aAt	p.T63N	NGLY1_ENST00000396649.3_Missense_Mutation_p.T63N|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.T63N|NGLY1_ENST00000417874.2_Missense_Mutation_p.T21N	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	63	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGAGTCTAGTAGAAAAGGC	0.363000													15	69					5.35267e-07	5.67917e-07	1	1	0
PPP2R5B	5526	broad.mit.edu	37	11	64700272	64700272	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:64700272G>A	ENST00000164133.2	+	12	1774	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	384					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GGAACAATGAGTATATCCTAA	0.527000													19	39					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162813747	162813747	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:162813747G>A	ENST00000375514.5	+	20	3020	c.2733G>A	c.(2731-2733)ctG>ctA	p.L911L	SLC4A10_ENST00000421911.1_Silent_p.L930L|SLC4A10_ENST00000272716.5_Silent_p.L900L|SLC4A10_ENST00000415876.2_Silent_p.L900L|SLC4A10_ENST00000446997.1_Silent_p.L930L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	930					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCAGTATTCTGAAGGTAACAA	0.333000													6	13					0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28232615	28232615	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:28232615C>T	ENST00000342303.5	+	4	732	c.277C>T	c.(277-279)Cta>Tta	p.L93L	METTL15_ENST00000303459.6_Silent_p.L93L|METTL15_ENST00000407364.3_Silent_p.L93L|METTL15_ENST00000406787.3_Silent_p.L93L	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	93							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CTAGATTTTTCTAGATATGAC	0.368000													11	27					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100813090	100813090	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:100813090G>A	ENST00000355338.2	-	7	1437	c.819C>T	c.(817-819)gaC>gaT	p.D273D	WARS_ENST00000392882.2_Silent_p.D273D|WARS_ENST00000557135.1_Silent_p.D273D|WARS_ENST00000344102.5_Silent_p.D232D|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Silent_p.D232D|WARS_ENST00000358655.4_Silent_p.D232D	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	273					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TACCAATGCAGTCGCTGTCAG	0.468000													12	35					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388527	90388527	+	RNA	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:90388527G>A	ENST00000354530.2	+	0	393					NR_027917.1																						TGGAGGCCTGGACTCTGAGGA	0.463000													33	46					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49197844	49197844	+	Silent	SNP	C	C	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:49197844C>A	ENST00000262013.7	-	1	382	c.174G>T	c.(172-174)ctG>ctT	p.L58L	SPAG9_ENST00000505279.1_Silent_p.L58L|SPAG9_ENST00000357122.4_Silent_p.L58L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	58					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CCAGGTTCTCCAGCACAGCCA	0.652000													11	16					0.000151284	0.000156182	1	1	0
SDPR	8436	broad.mit.edu	37	2	192711255	192711255	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:192711255C>G	ENST00000304141.4	-	1	726	c.397G>C	c.(397-399)Gat>Cat	p.D133H		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	133						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CACTGCCTATCCATGCGCTCT	0.607000													3	31					0	0	1	0	0
TRGV9	6983	broad.mit.edu	37	7	38356729	38356729	+	RNA	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:38356729C>T	ENST00000444775.2	-	0	1623																											ATTTGCCTGACGGAATGCCGG	0.453000													15	28					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998673	173998673	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:173998673A>G	ENST00000457714.1	+	7	2481	c.2052A>G	c.(2050-2052)gcA>gcG	p.A684A	NLGN1_ENST00000361589.4_Silent_p.A684A|NLGN1_ENST00000401917.3_Silent_p.A724A|NLGN1_ENST00000545397.1_Silent_p.A684A	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	701					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGTTGGAGCATCACTGCTGT	0.478000													19	29					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183836102	183836102	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:183836102T>G	ENST00000438320.2	-	3	508	c.218A>C	c.(217-219)aAt>aCt	p.N73T	DCTD_ENST00000357067.3_Missense_Mutation_p.N84T|DCTD_ENST00000513383.1_5'UTR|DCTD_ENST00000510370.1_Missense_Mutation_p.N73T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	73					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		GTCCAGCTTATTCTCTGCTGT	0.463000													12	25					0	0	1	0	0
TRAV29DV5	28653	broad.mit.edu	37	14	22631736	22631736	+	RNA	SNP	G	G	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:22631736G>C	ENST00000390458.3	+	0	439																											CCAGCCTGGAGACTCTGCAGT	0.498000													6	10					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166859220	166859220	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:166859220T>C	ENST00000423058.2	-	21	4063	c.4046A>G	c.(4045-4047)aAt>aGt	p.N1349S	SCN1A_ENST00000409050.1_Missense_Mutation_p.N1321S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1349S|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1338S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1349						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAGAAGCACATTCATGATGGA	0.353000													10	28					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74751326	74751326	+	Silent	SNP	A	A	G			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:74751326A>G	ENST00000404568.3	-	4	759	c.540T>C	c.(538-540)gaT>gaC	p.D180D	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Silent_p.D180D	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	180	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CCTGGAGTGAATCTGATGCCA	0.612000													12	49					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821597	72821597	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:72821597G>A	ENST00000268489.5	-	10	11250	c.10578C>T	c.(10576-10578)ggC>ggT	p.G3526G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2612G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3526	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTACGAgccgccgccgccgc	0.692000													32	62					0	0	1	0	0
BID	637	broad.mit.edu	37	22	18220843	18220843	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr22:18220843G>T	ENST00000317361.7	-	5	980	c.654C>A	c.(652-654)caC>caA	p.H218Q	BID_ENST00000342111.5_3'UTR|BID_ENST00000399767.1_Missense_Mutation_p.H76Q|BID_ENST00000399774.3_Missense_Mutation_p.H172Q|BID_ENST00000473439.1_5'UTR|BID_ENST00000551952.1_Missense_Mutation_p.H172Q|BID_ENST00000399765.1_Missense_Mutation_p.H76Q	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	172					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		TCACTGTTGTGTGAAAGACAT	0.542000													14	57					2.61681e-11	2.84479e-11	1	1	0
ANXA6	309	broad.mit.edu	37	5	150512104	150512104	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr5:150512104C>T	ENST00000354546.5	-	10	896	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000523714.1_Silent_p.G191G|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Silent_p.G223G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	223						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAATCGGCTTCCCTGTGGTCT	0.532000													4	8					0	0	1	0	0
TCEAL8	90843	broad.mit.edu	37	X	102508734	102508734	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:102508734G>A	ENST00000372685.3	-	3	410	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TCEAL8_ENST00000360000.4_Silent_p.G58G	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|lung(1)|ovary(1)	4						TAAATCCCTGGCCAGGCTGAT	0.502000													31	61					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283907	25283907	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr13:25283907C>T	ENST00000218548.6	+	19	3055	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	ATP12A_ENST00000381946.3_Missense_Mutation_p.R902W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	902					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATTAACCTGCGGGTAGAATG	0.532000													28	68					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125076611	125076611	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:125076611A>C	ENST00000522917.1	+	26	3558	c.3352A>C	c.(3352-3354)Act>Cct	p.T1118P	FER1L6_ENST00000399018.1_Missense_Mutation_p.T1118P|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1118						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTAACAGCCACTGAGTCCTC	0.537000													23	72					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123374755	123374755	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr9:123374755A>C	ENST00000373930.3	-	4	1117	c.1006T>G	c.(1006-1008)Ttt>Gtt	p.F336V	MEGF9_ENST00000426959.1_Missense_Mutation_p.F373V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	336	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTCTGATAAAATCCTTCTTTA	0.368000													9	27					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113654	147113654	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr3:147113654T>C	ENST00000383075.3	-	3	1185	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.K275E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K225E|ZIC4_ENST00000425731.3_Missense_Mutation_p.K263E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K225E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	225						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGAGTTCGTTTGTGTATTTTG	0.552000													24	45					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33148712	33148712	+	Silent	SNP	C	C	T			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:33148712C>T	ENST00000374820.2	-	11	1226	c.1206G>A	c.(1204-1206)ttG>ttA	p.L402L	PIGU_ENST00000452740.2_3'UTR			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	422					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CCTTGGCGGTCAAGTAGAGGC	0.617000													3	22					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	39					0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76548996	76548996	+	Silent	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr14:76548996G>A	ENST00000314067.6	+	7	439	c.405G>A	c.(403-405)ctG>ctA	p.L135L	IFT43_ENST00000238628.6_Silent_p.L140L	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	135					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCGTGACCTGGACAATGACC	0.557000													17	48					0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58468439	58468439	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr2:58468439T>A	ENST00000402135.3	-	1	46	c.10A>T	c.(10-12)Acg>Tcg	p.T4S	FANCL_ENST00000233741.4_Missense_Mutation_p.T4S|FANCL_ENST00000403295.3_Missense_Mutation_p.T4S|FANCL_ENST00000540646.1_Missense_Mutation_p.T4S	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	4					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CTCGCTTCCGTCACCGCCATG	0.637000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	14					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30496506	30496506	+	Splice_Site	SNP	G	G	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr20:30496506G>A	ENST00000375938.4	+	5	571		c.e5+1		TTLL9_ENST00000535842.1_Splice_Site|TTLL9_ENST00000375934.4_Splice_Site|TTLL9_ENST00000375922.4_Splice_Site|TTLL9_ENST00000310998.4_Splice_Site|TTLL9_ENST00000375921.2_Splice_Site			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9						protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCACTATGAGGTGAGCTGGGC	0.537000													4	16					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				5	8	---	---	---	---					
DDX60L	91351	broad.mit.edu	37	4	169342991	169343007	+	Frame_Shift_Del	DEL	TTTTGCCTGAGGACGTT	TTTTGCCTGAGGACGTT	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr4:169342991_169343007delTTTTGCCTGAGGACGTT	ENST00000511577.1	-	17	2545_2561	c.2298_2314delAACGTCCTCAGGCAAAA	c.(2296-2316)ccaacgtcctcaggcaaaaccfs	p.TSSGKT767fs	DDX60L_ENST00000260184.7_Frame_Shift_Del_p.TSSGKT767fs|DDX60L_ENST00000505890.1_Frame_Shift_Del_p.TSSGKT767fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	767	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAAGCATAGGTTTTGCCTGAGGACGTTGGGGCAACAA	0.488													23	74	---	---	---	---					
HIST1H2AJ	8331	broad.mit.edu	37	6	27782265	27782280	+	Frame_Shift_Del	DEL	TGGAGGTGACGCGGGA	TGGAGGTGACGCGGGA	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr6:27782265_27782280delTGGAGGTGACGCGGGA	ENST00000333151.3	-	1	327_342	c.239_254delTCCCGCGTCACCTCCA	c.(238-255)atcccgcgtcacctccagfs	p.IPRHLQ80fs		NM_021066.2	NP_066544.1	Q99878	H2A1J_HUMAN	histone cluster 1, H2aj	80					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	11						GATGGCCAGCTGGAGGTGACGCGGGATGATGCGAGT	0.648													12	52	---	---	---	---					
SRRT	51593	broad.mit.edu	37	7	100473270	100473272	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr7:100473270_100473272delGCA	ENST00000388793.4	+	2	279_281	c.59_61delGCA	c.(58-63)cgcagc>cgc	p.S21del	SRRT_ENST00000457580.2_In_Frame_Del_p.S21del|SRRT_ENST00000347433.4_In_Frame_Del_p.S21del|SRRT_ENST00000432932.1_In_Frame_Del_p.S21del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	21	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGAGAGCGCAGCGACTACGA	0.581													8	24	---	---	---	---					
C8orf86	389649	broad.mit.edu	37	8	38386020	38386036	+	Frame_Shift_Del	DEL	GTTTTAGTCTCTTGCTC	GTTTTAGTCTCTTGCTC	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:38386020_38386036delGTTTTAGTCTCTTGCTC	ENST00000358138.1	-	1	144_160	c.120_136delGAGCAAGAGACTAAAAC	c.(118-138)gggagcaagagactaaaaccafs	p.SKRLKP41fs	C8orf86_ENST00000437935.2_Frame_Shift_Del_p.SKRLKP41fs	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	41										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AACTTGGCTGGTTTTAGTCTCTTGCTCCCAAGCTCCT	0.516													13	23	---	---	---	---					
FAM110B	90362	broad.mit.edu	37	8	59059449	59059461	+	Frame_Shift_Del	DEL	TGCCCCTCCCCTG	TGCCCCTCCCCTG	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr8:59059449_59059461delTGCCCCTCCCCTG	ENST00000361488.3	+	5	1540_1552	c.660_672delTGCCCCTCCCCTG	c.(658-672)tctgcccctcccctgfs	p.SAPPL220fs	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	220						microtubule organizing center|mitochondrion|nucleus		p.P223S(1)|p.P222H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GCAGTAGCTCTGCCCCTCCCCTGCCTCCCAAGC	0.638													9	32	---	---	---	---					
OR5L1	219437	broad.mit.edu	37	11	55579107	55579107	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr11:55579107delC	ENST00000333973.2	+	1	254	c.165delC	c.(163-165)ctcfs	p.L55fs		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTCTCGGCTCCACACCCCCA	0.463													45	145	---	---	---	---					
CYP27B1	1594	broad.mit.edu	37	12	58160753	58160775	+	Frame_Shift_Del	DEL	GGAGGCGCCCAACTCGGGCGCCC	GGAGGCGCCCAACTCGGGCGCCC	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:58160753_58160775delGGAGGCGCCCAACTCGGGCGCCC	ENST00000228606.4	-	1	259_281	c.50_72delGGGCGCCCGAGTTGGGCGCCTCC	c.(49-72)tgggcgcccgagttgggcgcctccfs	p.WAPELGAS17fs		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	17					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GGTAGCCTAGGGAGGCGCCCAACTCGGGCGCCCAGCGGACGCG	0.619													16	84	---	---	---	---					
RNFT2	84900	broad.mit.edu	37	12	117217069	117217081	+	Frame_Shift_Del	DEL	AGACTTTGTTCTG	AGACTTTGTTCTG	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr12:117217069_117217081delAGACTTTGTTCTG	ENST00000257575.4	+	7	1031_1043	c.798_810delAGACTTTGTTCTG	c.(796-810)gcagactttgttctgfs	p.ADFVL266fs	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Frame_Shift_Del_p.ADFVL266fs|RNFT2_ENST00000392549.2_Frame_Shift_Del_p.ADFVL266fs			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	266						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		TGGGGATCGCAGACTTTGTTCTGAAGTACATCA	0.545													28	76	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29118702	29118704	+	RNA	DEL	AGC	AGC	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:29118702_29118704delAGC	ENST00000564580.1	+	0	1448				CTB-134H23.3_ENST00000562618.1_RNA																							GCCAGGTCCAagcagcagcagca	0.660													2	4	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72821614	72821615	+	In_Frame_Ins	INS	-	-	ACT			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr16:72821614_72821615insACT	ENST00000268489.5	-	10	11232_11233	c.10560_10561insAGT	c.(10558-10563)ggcggc>ggcAGTggc	p.3520_3521GG>GSG	ZFHX3_ENST00000397992.5_In_Frame_Ins_p.2606_2607GG>GSG|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ccgccgccgccgccaccgccgc	0.703													12	48	---	---	---	---					
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1																						TGAACAGATTGAAAAAAAAAAC	0.525													2	4	---	---	---	---					
RPS6KA3	6197	broad.mit.edu	37	X	20174206	20174228	+	Splice_Site	DEL	TGACTGTATGGGGCTGCTCACCT	TGACTGTATGGGGCTGCTCACCT	-			TCGA-XF-A9T3-01A-11D-A42E-08	TCGA-XF-A9T3-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e487301-13ba-4467-b03b-7454cf100659	67ff99f6-3100-4d2f-8829-9a98a96c2c44	g.chrX:20174206_20174228delTGACTGTATGGGGCTGCTCACCT	ENST00000379565.3	-	21	2306_2308	c.2099_2101delAGGTGAGCAGCCCCATACAGTCA	c.(2098-2103)aaggtg>atg	p.KV700fs	RPS6KA3_ENST00000544447.1_Splice_Site_p.KV672fs|RPS6KA3_ENST00000379548.4_Splice_Site_p.KV670fs|RPS6KA3_ENST00000540702.1_Splice_Site_p.KV671fs|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	700					axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGGAAAACAGTGACTGTATGGGGCTGCTCACCTTTACTAGATG	0.511													12	56	---	---	---	---					
