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
TTLL11	158135	broad.mit.edu	37	9	124794104	124794104	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:124794104C>T	ENST00000321582.5	-	3	1048	c.861G>A	c.(859-861)ctG>ctA	p.L287L	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000373776.3_Silent_p.L287L	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	287	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CTGCTCTGCTCAGAGTAATTT	0.478000													32	99					0	0	0.013726	0	0
EPHA2	1969	broad.mit.edu	37	1	16464404	16464404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16464404G>C	ENST00000358432.5	-	5	1410	c.1256C>G	c.(1255-1257)tCa>tGa	p.S419*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	419	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TACCAGGCCTGAGACGCCATT	0.637000													17	79					0	0	0.006122	0	0
TCEB1	6921	broad.mit.edu	37	8	74859029	74859029	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:74859029C>T	ENST00000518127.1	-	4	267	c.175G>A	c.(175-177)Gag>Aag	p.E59K	TCEB1_ENST00000520210.1_Missense_Mutation_p.E43K|TCEB1_ENST00000523815.1_Missense_Mutation_p.E59K|TCEB1_ENST00000519487.1_Missense_Mutation_p.E59K|TCEB1_ENST00000522337.1_Missense_Mutation_p.E59K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000520242.1_Missense_Mutation_p.E59K|TCEB1_ENST00000284811.8_Missense_Mutation_p.E59K	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	59					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			AAATTGACCTCATTGGTTTCG	0.383000													18	55					0	0	0.010504	0	0
SBNO1	55206	broad.mit.edu	37	12	123810857	123810857	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123810857G>A	ENST00000420886.2	-	13	1716	c.1717C>T	c.(1717-1719)Cag>Tag	p.Q573*	SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q573*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q572*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q572*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	573							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCAGCTTGCTGAAACCGCTCT	0.403000													20	175					0	0	0.010504	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023375	18023375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:18023375G>A	ENST00000361221.3	+	29	3499	c.3340G>A	c.(3340-3342)Ggg>Agg	p.G1114R	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1075R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G887R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G817R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1075R	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1114					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGGGCACTGTGGGCCTGTGGC	0.627000											OREG0013156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	32					0	0	0.013537	0	0
ZNF623	9831	broad.mit.edu	37	8	144732148	144732148	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144732148G>A	ENST00000501748.2	+	1	195	c.106G>A	c.(106-108)Gac>Aac	p.D36N	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACGACGTCAGACAGACTCAC	0.502000													41	74					0	0	0.014410	0	0
ESRP1	54845	broad.mit.edu	37	8	95690463	95690463	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:95690463C>T	ENST00000433389.2	+	13	1874	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	ESRP1_ENST00000423620.2_Missense_Mutation_p.P558S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P558S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P562S	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	562					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ATTTCCAGCTCCTGCTGCAGT	0.493000													24	81					0	0	0.004656	0	0
STX4	6810	broad.mit.edu	37	16	31049870	31049870	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31049870G>A	ENST00000394998.1	+	9	941	c.598G>A	c.(598-600)Gag>Aag	p.E200K	STX4_ENST00000313843.3_Missense_Mutation_p.E202K|STX4_ENST00000493902.1_3'UTR	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	202	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGCCTTAAATGAGATCTCGGC	0.552000													20	55					0	0	0.014323	0	0
OXSR1	9943	broad.mit.edu	37	3	38266073	38266073	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:38266073G>A	ENST00000311806.3	+	8	1086	c.714G>A	c.(712-714)ctG>ctA	p.L238L	OXSR1_ENST00000446845.1_Silent_p.L238L	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	238	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTTAATGCTGACACTGCAGA	0.343000													6	80					0	0	0.001984	0	0
ZNF514	84874	broad.mit.edu	37	2	95815860	95815860	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95815860C>T	ENST00000295208.2	-	5	832	c.370G>A	c.(370-372)Gag>Aag	p.E124K	ZNF514_ENST00000411425.1_Missense_Mutation_p.E124K	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCTGCATCTCTAACTGGCCA	0.423000													40	82					0	0	0.006230	0	0
BDH1	622	broad.mit.edu	37	3	197259341	197259341	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:197259341G>A	ENST00000392379.1	-	5	610	c.209C>T	c.(208-210)tCa>tTa	p.S70L	BDH1_ENST00000441275.1_5'UTR|BDH1_ENST00000392378.2_Missense_Mutation_p.S70L|BDH1_ENST00000358186.2_Missense_Mutation_p.S70L	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	70				S -> A (in Ref. 3; AAH11964).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTTGGCCAATGAGAACCCAAA	0.473000													10	42					0	0	0.013537	0	0
PRKDC	5591	broad.mit.edu	37	8	48719860	48719860	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48719860C>G	ENST00000314191.2	-	70	9638	c.9582G>C	c.(9580-9582)gaG>gaC	p.E3194D	PRKDC_ENST00000338368.3_Missense_Mutation_p.E3194D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3195	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGGTAAGCTTCTCCTCTATTT	0.423000								Non-homologous end-joining					46	127					0	0	0.014410	0	0
RFX5	5993	broad.mit.edu	37	1	151317305	151317305	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:151317305C>A	ENST00000290524.4	-	6	430	c.252G>T	c.(250-252)ctG>ctT	p.L84L	RFX5_ENST00000452671.2_Silent_p.L84L|RFX5_ENST00000452513.2_Intron|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Silent_p.L84L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	84	N-terminal domain.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCATTGCTCAGTGTACTTG	0.463000													8	59					7.48243e-07	7.7865e-07	0.006214	1	0
SOCS5	9655	broad.mit.edu	37	2	46986870	46986870	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46986870G>T	ENST00000306503.5	+	2	1373	c.1201G>T	c.(1201-1203)Ggc>Tgc	p.G401C	SOCS5_ENST00000394861.2_Missense_Mutation_p.G401C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	401	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAAACCTGAAGGCACGTTTTT	0.527000													26	78					7.92952e-12	8.39803e-12	0.003954	1	0
NBPF22P	285622	broad.mit.edu	37	5	85578475	85578475	+	RNA	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:85578475C>T	ENST00000590707.1	+	0	198					NR_003719.2																						TAATTGTCATCTCTCAGTCCT	0.413000													11	29					0	0	0.008291	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488000													5	260					0	0	0.004482	0	0
NDUFA3	4696	broad.mit.edu	37	19	54611809	54611809	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54611809C>G	ENST00000391764.3	+	4	236	c.226C>G	c.(226-228)Cct>Gct	p.P76A	TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CCAAAGCTGTCCtggagccag	0.592000													13	29					0	0	0.002450	0	0
TCF21	6943	broad.mit.edu	37	6	134212923	134212923	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:134212923G>A	ENST00000367882.4	+	2	783	c.523G>A	c.(523-525)Gga>Aga	p.G175R	TCF21_ENST00000237316.3_Missense_Mutation_p.G175R|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	175					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCGCTTATGTGGAACCACCGC	0.657000													11	34					0	0	0.008291	0	0
MYH14	79784	broad.mit.edu	37	19	50721024	50721024	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:50721024G>T	ENST00000440075.2	+	3	605	c.558G>T	c.(556-558)ctG>ctT	p.L186L	MYH14_ENST00000262269.8_Silent_p.L186L|MYH14_ENST00000376970.2_Silent_p.L186L|MYH14_ENST00000425460.1_Silent_p.L186L|MYH14_ENST00000598205.1_Silent_p.L186L|MYH14_ENST00000601313.1_Silent_p.L186L|MYH14_ENST00000596571.1_Silent_p.L186L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	186	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGCATGCTGCAGGGTGAGT	0.642000													29	57					7.01153e-11	7.38219e-11	0.007291	1	0
MYH13	8735	broad.mit.edu	37	17	10206785	10206785	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:10206785C>T	ENST00000418404.3	-	37	5660	c.5497G>A	c.(5497-5499)Gaa>Aaa	p.E1833K	MYH13_ENST00000252172.4_Missense_Mutation_p.E1833K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1833K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1833					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTCTGTTCCACATCAAGC	0.517000													74	106					0	0	0.014410	0	0
ZNF350	59348	broad.mit.edu	37	19	52468574	52468574	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52468574C>G	ENST00000243644.4	-	5	1359	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	378					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TTCCCACATTCACTACATTCA	0.433000													11	43					0	0	0.013537	0	0
ATG2A	23130	broad.mit.edu	37	11	64673226	64673226	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64673226G>A	ENST00000421419.2	-	23	3473	c.3359C>T	c.(3358-3360)tCt>tTt	p.S1120F	ATG2A_ENST00000377264.3_Missense_Mutation_p.S1120F			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1120							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATAGTCCACAGAGCAGGAGAA	0.632000													7	84					0	0	0.006214	0	0
PRPF40B	25766	broad.mit.edu	37	12	50029224	50029224	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:50029224G>A	ENST00000261897.1	+	13	1710	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	PRPF40B_ENST00000380281.1_Missense_Mutation_p.D393N|PRPF40B_ENST00000548825.2_Missense_Mutation_p.D415N			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	393					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGTTTATGATGATGTCCTCTT	0.512000													46	154					0	0	0.010771	0	0
AHDC1	27245	broad.mit.edu	37	1	27877465	27877465	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27877465C>T	ENST00000374011.2	-	6	2130	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	AHDC1_ENST00000247087.5_Missense_Mutation_p.D388N|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	388	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTTGGCCTATCAGTGCGCCGC	0.716000													6	15					0	0	0.001168	0	0
RBM23	55147	broad.mit.edu	37	14	23371581	23371581	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23371581G>T	ENST00000359890.3	-	11	1136	c.941C>A	c.(940-942)tCt>tAt	p.S314Y	RBM23_ENST00000555209.1_Missense_Mutation_p.S64Y|RBM23_ENST00000399922.2_Missense_Mutation_p.S298Y|RBM23_ENST00000542016.2_Missense_Mutation_p.S144Y|RBM23_ENST00000346528.5_Missense_Mutation_p.S280Y	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	314	RRM 2.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GGCACACTCAGAATCAGAGAA	0.532000													15	35					3.45872e-05	3.55287e-05	0.004007	1	0
TMEM214	54867	broad.mit.edu	37	2	27263361	27263361	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27263361G>A	ENST00000238788.9	+	16	2002	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	TMEM214_ENST00000404032.3_Missense_Mutation_p.C602Y	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	647						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CATGAGGCATGCAGGTGAGAC	0.637000													5	56					0	0	0.001168	0	0
CATSPERG	57828	broad.mit.edu	37	19	38853162	38853162	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:38853162C>T	ENST00000409235.3	+	19	2419	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.F728F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	768					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGTACAGCTTCGCCATCTTCC	0.612000													9	54					0	0	0.008291	0	0
ABCB4	5244	broad.mit.edu	37	7	87072722	87072722	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:87072722C>T	ENST00000265723.4	-	12	1380	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ABCB4_ENST00000453593.1_Silent_p.Q423Q|ABCB4_ENST00000359206.3_Silent_p.Q423Q|ABCB4_ENST00000358400.3_Silent_p.Q423Q|ABCB4_ENST00000545634.1_Silent_p.Q423Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	423	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGGCCACCGTCTGCCCACTCT	0.493000													10	84					0	0	0.006214	0	0
FDPS	2224	broad.mit.edu	37	1	155279943	155279943	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155279943G>A	ENST00000356657.6	+	3	448	c.286G>A	c.(286-288)Gag>Aag	p.E96K	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000447866.1_Missense_Mutation_p.E30K|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E96K	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	96					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GGTGCTGACTGAGGATGAGAT	0.512000													18	64					0	0	0.008871	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487070	20487070	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:20487070G>A	ENST00000573854.1	+	8	1187	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	ACSM2A_ENST00000417235.2_Missense_Mutation_p.R279Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R358Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R130Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	358					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CTGGACATCCGAGAATCCTAT	0.493000													27	245					0	0	0.006320	0	0
CD300A	11314	broad.mit.edu	37	17	72469964	72469964	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:72469964C>T	ENST00000360141.3	+	2	618	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	110	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACCATGGCTCCGAGACTTTC	0.562000													12	109					0	0	0.002450	0	0
PCCA	5095	broad.mit.edu	37	13	100764110	100764110	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100764110C>G	ENST00000376285.1	+	3	237	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V	PCCA_ENST00000376279.3_Missense_Mutation_p.L67V|PCCA_ENST00000376286.4_Missense_Mutation_p.L41V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	67	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAAAATTCTTGTTGCTAA	0.303000													9	24					0	0	0.008291	0	0
POM121L12	285877	broad.mit.edu	37	7	53103800	53103800	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:53103800C>T	ENST00000408890.4	+	1	452	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	146										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCCCCCTGAGCGTCAGGAGAG	0.711000													13	29					0	0	0.003163	0	0
FLT1	2321	broad.mit.edu	37	13	29001376	29001376	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:29001376C>A	ENST00000282397.4	-	10	1607	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	FLT1_ENST00000541932.1_Silent_p.L452L|FLT1_ENST00000539099.1_Silent_p.L452L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	452	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGTACAAGTCAGGATTTGTC	0.488000													18	61					9.16793e-09	9.59621e-09	0.004990	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73149386	73149386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:73149386G>A	ENST00000286657.4	-	22	3121	c.3085C>T	c.(3085-3087)Caa>Taa	p.Q1029*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1029	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACTTCCATTTGACAGAATATG	0.393000													25	63					0	0	0.007291	0	0
FOXP2	93986	broad.mit.edu	37	7	114329955	114329955	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:114329955G>A	ENST00000408937.3	+	18	2571	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K	FOXP2_ENST00000350908.4_Missense_Mutation_p.E708K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E725K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E687K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E616K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E523K|FOXP2_ENST00000393494.2_Missense_Mutation_p.E708K	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	708					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GATTGAAGAAGAGCCTTTATC	0.438000													9	60					0	0	0.006214	0	0
POLL	27343	broad.mit.edu	37	10	103344383	103344383	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:103344383G>T	ENST00000370162.3	-	5	1361	c.867C>A	c.(865-867)ttC>ttA	p.F289L	POLL_ENST00000299206.4_Missense_Mutation_p.F289L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.S147Y|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.F289L|POLL_ENST00000370172.1_Missense_Mutation_p.F201L|POLL_ENST00000339310.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	289					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CAGGCTTATGGAAGCTCTTGA	0.562000								DNA polymerases (catalytic subunits)					14	51					1.05317e-09	1.10722e-09	0.002450	1	0
CRTAC1	55118	broad.mit.edu	37	10	99655057	99655057	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:99655057G>A	ENST00000370597.3	-	11	1786	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	CRTAC1_ENST00000370591.2_Silent_p.I477I|CRTAC1_ENST00000298819.4_Silent_p.I477I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	477						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCCCCCGTCGATGATCCTCA	0.632000													18	36					0	0	0.007413	0	0
ROBO2	6092	broad.mit.edu	37	3	77666728	77666728	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:77666728G>C	ENST00000461745.1	+	22	4258	c.3358G>C	c.(3358-3360)Gat>Cat	p.D1120H	ROBO2_ENST00000332191.8_Missense_Mutation_p.D1120H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1136H|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1120					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)		AGGTCTGGAAGATGAACTGGA	0.458000													31	84					0	0	0.004289	0	0
ADAM7	8756	broad.mit.edu	37	8	24356805	24356805	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:24356805C>T	ENST00000175238.6	+	17	1982	c.1899C>T	c.(1897-1899)tgC>tgT	p.C633C	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.C633C|ADAM7_ENST00000520720.1_Silent_p.C405C|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	633	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAACCAATTGCCCCTCTCAGT	0.348000													3	46					0	0	0.004672	0	0
SNTB1	6641	broad.mit.edu	37	8	121823639	121823639	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121823639C>T	ENST00000395601.3	-	2	859	c.445G>A	c.(445-447)Gac>Aac	p.D149N	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.D149N	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	149	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGTCTGGTCCGCCGCCAGC	0.657000													22	88					0	0	0.012319	0	0
SPTBN1	6711	broad.mit.edu	37	2	54852072	54852072	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:54852072G>A	ENST00000333896.5	+	10	1660	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	SPTBN1_ENST00000356805.4_Silent_p.L438L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	438					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGACTTGGCTGAGCGAAAACC	0.488000													6	102					0	0	0.001984	0	0
C3orf58	205428	broad.mit.edu	37	3	143691432	143691432	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:143691432C>G	ENST00000315691.3	+	1	793	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	86						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGACTTCCTCAACGTGAAGA	0.697000													7	48					0	0	0.001984	0	0
GPR110	266977	broad.mit.edu	37	6	46977332	46977332	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977332C>A	ENST00000371253.2	-	11	2054	c.1839G>T	c.(1837-1839)caG>caT	p.Q613H	GPR110_ENST00000283297.5_Missense_Mutation_p.Q416H|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	613					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTTTTTTAATCTGCTTCCAAA	0.443000													10	50					3.86212e-05	3.95591e-05	0.008291	1	0
ZNF514	84874	broad.mit.edu	37	2	95818421	95818421	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:95818421G>A	ENST00000295208.2	-	4	677	c.215C>T	c.(214-216)tCa>tTa	p.S72L	ZNF514_ENST00000411425.1_Missense_Mutation_p.S72L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCACTCACCTGAGTGGGCTCC	0.522000													54	150					0	0	0.014410	0	0
BRD2	6046	broad.mit.edu	37	6	32942323	32942323	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32942323C>T	ENST00000395289.2	+	3	1715	c.114C>T	c.(112-114)ctC>ctT	p.L38L	BRD2_ENST00000374831.4_Silent_p.L38L|BRD2_ENST00000395287.1_Silent_p.L38L|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000374825.4_Silent_p.L38L			P25440	BRD2_HUMAN	bromodomain containing 2	38					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AACCCTCTCTCTTGTATGAGG	0.582000													10	80					0	0	0.006214	0	0
COQ10A	93058	broad.mit.edu	37	12	56664084	56664084	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:56664084G>C	ENST00000308197.5	+	5	988	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	COQ10A_ENST00000433805.2_Missense_Mutation_p.E211Q|COQ10A_ENST00000546544.1_Missense_Mutation_p.E226Q	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	243						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						GATGTTCCATGAGGTGCACCA	0.498000													31	96					0	0	0.009535	0	0
DUOXA1	90527	broad.mit.edu	37	15	45415129	45415129	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45415129G>A	ENST00000558996.1	-	2	138	c.84C>T	c.(82-84)atC>atT	p.I28I	DUOXA1_ENST00000560572.1_Silent_p.I28I|DUOXA1_ENST00000430224.2_Silent_p.I28I|DUOXA1_ENST00000267803.4_Silent_p.I28I|DUOXA1_ENST00000559014.1_Silent_p.I28I|DUOXA1_ENST00000558422.1_Silent_p.I28I	NM_001276267.1|NM_001276268.1	NP_001263196.1|NP_001263197.1	Q1HG43	DOXA1_HUMAN	dual oxidase maturation factor 1	28					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		GAAAGATCATGATGATGCTGG	0.562000													30	62					0	0	0.009535	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200801916	200801916	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:200801916G>A	ENST00000358823.2	+	6	1140	c.870G>A	c.(868-870)ttG>ttA	p.L290L	CAMSAP2_ENST00000236925.4_Silent_p.L301L|CAMSAP2_ENST00000413307.2_Silent_p.L290L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	301	CH.					cytoplasm|microtubule	protein binding										AAGAATACTTGAACCAGTGTT	0.323000													19	74					0	0	0.010504	0	0
YIPF3	25844	broad.mit.edu	37	6	43480834	43480834	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:43480834G>A	ENST00000372422.2	-	6	821	c.639C>T	c.(637-639)atC>atT	p.I213I	YIPF3_ENST00000506469.1_Silent_p.I219I	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	213					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCAGCATGGTGATCTGGGCGT	0.562000													52	154					0	0	0.014410	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	77					0	0	0.008291	0	0
ADA	100	broad.mit.edu	37	20	43251500	43251500	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:43251500G>A	ENST00000372874.4	-	8	884	c.750C>T	c.(748-750)aaC>aaT	p.N250N	ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Silent_p.N226N|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	250					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCCGCAGCCTGTTATAAAGGG	0.557000									Adenosine Deaminase Deficiency				27	133					0	0	0.006320	0	0
PKM	5315	broad.mit.edu	37	15	72499611	72499611	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72499611C>T	ENST00000319622.6	-	7	1300	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	PKM_ENST00000389093.3_Missense_Mutation_p.E282K|PKM_ENST00000565154.1_Missense_Mutation_p.E282K|PKM_ENST00000565184.1_Missense_Mutation_p.E282K|PKM_ENST00000335181.5_Missense_Mutation_p.E282K|PKM_ENST00000568883.1_Missense_Mutation_p.E117K|PKM_ENST00000449901.2_Missense_Mutation_p.E267K|PKM_ENST00000568459.1_Missense_Mutation_p.E282K	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						TCCAGGATTTCATCAAACCTG	0.478000													15	46					0	0	0.004007	0	0
ZNF484	83744	broad.mit.edu	37	9	95610741	95610741	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95610741C>T	ENST00000395505.2	-	3	312	c.220G>A	c.(220-222)Gac>Aac	p.D74N	ZNF484_ENST00000375495.3_Missense_Mutation_p.D110N|ZNF484_ENST00000395506.3_Missense_Mutation_p.D112N|ZNF484_ENST00000332591.6_Missense_Mutation_p.D74N|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAATATGGGTCATCTCTTGTG	0.353000													39	110					0	0	0.007835	0	0
XPOT	11260	broad.mit.edu	37	12	64813889	64813889	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:64813889G>A	ENST00000332707.5	+	7	1058	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	177	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TACCATGAGGGAACAGTGCAT	0.363000													23	46					0	0	0.002780	0	0
NFATC3	4775	broad.mit.edu	37	16	68160439	68160439	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:68160439C>T	ENST00000349223.5	+	3	1551	c.1327C>T	c.(1327-1329)Cat>Tat	p.H443Y	NFATC3_ENST00000575270.1_Missense_Mutation_p.H443Y|NFATC3_ENST00000346183.3_Missense_Mutation_p.H443Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H443Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	443	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TAAAACTCATCATCGAGCCCA	0.433000													33	71					0	0	0.013726	0	0
C3orf20	84077	broad.mit.edu	37	3	14769987	14769987	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:14769987G>A	ENST00000253697.3	+	12	2184	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	C3orf20_ENST00000412910.1_Missense_Mutation_p.E456K|C3orf20_ENST00000435614.1_Missense_Mutation_p.E456K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	578	Poly-Glu.					cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGAGGAGGAAGAATTTGTTCG	0.473000													23	94					0	0	0.003330	0	0
NOL8	55035	broad.mit.edu	37	9	95077643	95077643	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077643C>T	ENST00000545558.1	-	7	1756	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	NOL8_ENST00000358855.4_Missense_Mutation_p.D354N|NOL8_ENST00000542053.1_Missense_Mutation_p.D354N|NOL8_ENST00000535387.1_Missense_Mutation_p.D422N|NOL8_ENST00000442668.2_Missense_Mutation_p.D422N			Q76FK4	NOL8_HUMAN	nucleolar protein 8	422					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACAGTGATCAGAAAGCTCA	0.333000													7	30					0	0	0.001984	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653641	43653641	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43653641C>T	ENST00000396976.2	-	5	2323	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.G340E|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.G341E	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	730					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTTTCTCTCCTGTGTGGAT	0.433000													15	59					0	0	0.002450	0	0
ZAN	7455	broad.mit.edu	37	7	100350144	100350144	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:100350144G>A	ENST00000542585.1	+	0	2564				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.527000													9	74					0	0	0.004482	0	0
NUP205	23165	broad.mit.edu	37	7	135289087	135289087	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:135289087G>C	ENST00000285968.6	+	19	2728		c.e19-1			NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTCTTTAAAGATACCTATAT	0.348000													7	23					0	0	0.004482	0	0
FAM129A	116496	broad.mit.edu	37	1	184787891	184787891	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:184787891C>G	ENST00000367511.3	-	9	1247	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	352					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGAGCTCCTCCAGGATGGAT	0.527000													28	189					0	0	0.006320	0	0
ITPR1	3708	broad.mit.edu	37	3	4725457	4725457	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4725457G>C	ENST00000302640.8	+	27	3778	c.3428G>C	c.(3427-3429)gGa>gCa	p.G1143A	ITPR1_ENST00000357086.4_Missense_Mutation_p.G1149A|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1134A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1149A|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1143A|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1158A	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1158					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGTGCATCTGGAGAAAATGAA	0.473000													19	44					0	0	0.008871	0	0
SENP6	26054	broad.mit.edu	37	6	76407199	76407199	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:76407199G>C	ENST00000370014.3	+	18	2873	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	SENP6_ENST00000447266.2_Missense_Mutation_p.E752Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	752	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGATATTTTTGAGAAGGATTT	0.303000													10	25					0	0	0.010729	0	0
PLXDC1	57125	broad.mit.edu	37	17	37264415	37264415	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:37264415C>T	ENST00000315392.4	-	5	764	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	PLXDC1_ENST00000394316.2_Missense_Mutation_p.G185S|PLXDC1_ENST00000539608.1_Missense_Mutation_p.G112S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.G145S	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	185					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGAGTAGCCAGGGTTGAAG	0.522000													51	107					0	0	0.014410	0	0
OR13C3	138803	broad.mit.edu	37	9	107298345	107298345	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107298345G>A	ENST00000374781.2	-	1	792	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGTAGAGGATGAACATATAGG	0.428000													37	81					0	0	0.005524	0	0
CXADR	1525	broad.mit.edu	37	21	18931416	18931416	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:18931416G>A	ENST00000284878.7	+	4	1286	c.538G>A	c.(538-540)Gac>Aac	p.D180N	CXADR_ENST00000306618.10_Missense_Mutation_p.D180N|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.D180N|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Missense_Mutation_p.D180N	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	180	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AAAATTGTCTGACTCACAGAA	0.383000													18	68					0	0	0.008871	0	0
NAMPT	10135	broad.mit.edu	37	7	105893498	105893498	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105893498C>G	ENST00000222553.3	-	10	1637	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	444					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TTTCCTTCCTCCAGTGTAACA	0.408000													10	55					0	0	0.013537	0	0
TRGC2	6967	broad.mit.edu	37	7	38288908	38288908	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:38288908G>A	ENST00000436911.2	-	0	265																											CATGTCTGACGATACATCTGT	0.393000													38	103					0	0	0.003755	0	0
EVX2	344191	broad.mit.edu	37	2	176948129	176948129	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:176948129G>A	ENST00000308618.4	-	1	512	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CCGGGGGAGCGAAGCGCGGAG	0.682000													6	13					0	0	0.001168	0	0
ZNF80	7634	broad.mit.edu	37	3	113955429	113955429	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:113955429C>G	ENST00000482457.2	-	1	996	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	165						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTTCCACATTCTTTGCACCCA	0.488000													17	156					0	0	0.006122	0	0
DOCK6	57572	broad.mit.edu	37	19	11354276	11354276	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:11354276C>T	ENST00000294618.7	-	11	1226	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	405					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CAGCGCTGCTCACGATGTTGG	0.692000											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					0	0	0.001168	0	0
PAH	5053	broad.mit.edu	37	12	103248921	103248921	+	Silent	SNP	G	G	A	rs62517208		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:103248921G>A	ENST00000553106.1	-	6	1171	c.699C>T	c.(697-699)ttC>ttT	p.F233F	PAH_ENST00000307000.2_Silent_p.F228F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	233			F -> L (in PKU; haplotypes 2,3).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTCTGCAGGAACTGAGAAA	0.488000													17	48					0	0	0.006122	0	0
FAM118B	79607	broad.mit.edu	37	11	126110786	126110786	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:126110786C>G	ENST00000533050.1	+	4	679	c.186C>G	c.(184-186)ctC>ctG	p.L62L	FAM118B_ENST00000360194.4_Silent_p.L62L|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	62										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TTCCAGCCCTCAAATCCTGGA	0.453000													74	256					0	0	0.014410	0	0
ACACB	32	broad.mit.edu	37	12	109577263	109577263	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109577263C>G	ENST00000338432.7	+	2	172	c.53C>G	c.(52-54)tCc>tGc	p.S18C	ACACB_ENST00000377854.5_Missense_Mutation_p.S18C|ACACB_ENST00000377848.3_Missense_Mutation_p.S18C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	18					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTGACCTTTTCCTGGTTAAAA	0.433000													10	91					0	0	0.010729	0	0
SYT1	6857	broad.mit.edu	37	12	79689973	79689973	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:79689973G>T	ENST00000261205.4	+	7	1256	c.599G>T	c.(598-600)cGa>cTa	p.R200L	SYT1_ENST00000393240.3_Missense_Mutation_p.R200L|SYT1_ENST00000457153.2_Missense_Mutation_p.R197L|SYT1_ENST00000552744.1_Missense_Mutation_p.R200L	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	200	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAGTCCACCGAAAAACCCTT	0.383000													22	60					1.10923e-09	1.16445e-09	0.002780	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68165736	68165736	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68165736G>A	ENST00000262215.3	-	18	3037	c.2648C>T	c.(2647-2649)tCa>tTa	p.S883L	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S337L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	883					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCTTTCATTGATATCTTTTT	0.308000													6	62					0	0	0.001984	0	0
ATXN7	6314	broad.mit.edu	37	3	63973786	63973786	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:63973786G>C	ENST00000398590.3	+	9	1700	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	ATXN7_ENST00000295900.6_Missense_Mutation_p.D383H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D238H|ATXN7_ENST00000538065.1_Missense_Mutation_p.D383H|ATXN7_ENST00000487717.1_Missense_Mutation_p.D383H	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	383	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAAACGATTTGATGTGTTATT	0.458000													74	201					0	0	0.014410	0	0
IPO8	10526	broad.mit.edu	37	12	30783892	30783892	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:30783892C>G	ENST00000256079.4	-	25	3355		c.e25-1		IPO8_ENST00000544829.1_Splice_Site	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTCTTTGCCTCTAGCATTTTT	0.398000													18	42					0	0	0.006122	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047131	75047131	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75047131G>C	ENST00000343932.4	+	7	1316		c.e7-1			NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2						alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TCCTCTTGCAGAGAGCTGTGG	0.592000													18	112					0	0	0.008871	0	0
ITIH2	3698	broad.mit.edu	37	10	7769773	7769773	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:7769773G>C	ENST00000358415.4	+	11	1427	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	ITIH2_ENST00000379587.4_Missense_Mutation_p.D410H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	421	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTTGGTTTCTGATGGAGATCC	0.453000													15	47					0	0	0.004007	0	0
PXDNL	137902	broad.mit.edu	37	8	52284541	52284541	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:52284541G>A	ENST00000356297.4	-	19	3893	c.3793C>T	c.(3793-3795)Cag>Tag	p.Q1265*	PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q1265*	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1265					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGCACTTGCTGAATGCTGTCA	0.532000													5	26					0	0	0.000602	0	0
BRAF	673	broad.mit.edu	37	7	140453110	140453110	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:140453110G>C	ENST00000288602.6	-	15	1885	c.1825C>G	c.(1825-1827)Cag>Gag	p.Q609E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	609	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTTCAAACTGATGGGACCCA	0.393000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	52					0	0	0.008291	0	0
HMGCR	3156	broad.mit.edu	37	5	74646146	74646146	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74646146G>A	ENST00000287936.4	+	8	883	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	HMGCR_ENST00000343975.5_Missense_Mutation_p.E243K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E243K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	243					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCGAGTTTTAGAAGAAGAAGA	0.413000													5	65					0	0	0.000602	0	0
IQSEC3	440073	broad.mit.edu	37	12	278251	278251	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:278251C>T	ENST00000538872.1	+	12	3162	c.3044C>T	c.(3043-3045)tCa>tTa	p.S1015L	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1015L|IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S712L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1015					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GACCCACAGTCAAAGCAAGGA	0.642000													32	64					0	0	0.008361	0	0
HLA-A	3105	broad.mit.edu	37	6	29910683	29910683	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:29910683T>C	ENST00000396634.1	+	4	564	c.223T>C	c.(223-225)Tgg>Cgg	p.W75R	HLA-A_ENST00000376809.5_Missense_Mutation_p.W75R|HLA-A_ENST00000376802.2_Missense_Mutation_p.W75R|HLA-A_ENST00000376806.5_Missense_Mutation_p.W75R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGGGCGCCGTGGATAGAGCA	0.677000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			11	16					0	0	0.002450	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119940992	119940992	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:119940992G>C	ENST00000297350.4	-	3	955	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	193					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCACATTTTTGAGTTGATTCA	0.393000													4	200					0	0	0.000602	0	0
C9orf116	138162	broad.mit.edu	37	9	138391608	138391608	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:138391608C>G	ENST00000371789.3	-	1	756	c.90G>C	c.(88-90)gtG>gtC	p.V30V	C9orf116_ENST00000429260.2_Silent_p.V30V|C9orf116_ENST00000371791.1_Silent_p.V30V			Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	30															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GGTCCGCGCTCACGCGGTAGT	0.697000													3	19					0	0	0.004672	0	0
ABCA4	24	broad.mit.edu	37	1	94528713	94528713	+	Missense_Mutation	SNP	C	C	T	rs61748559		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:94528713C>T	ENST00000370225.3	-	12	1801	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R572Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	572			R -> P (in STGD1).|R -> Q (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TATGTCCATTCGGATCTTATA	0.473000													58	148					0	0	0.014410	0	0
OSCAR	126014	broad.mit.edu	37	19	54600369	54600369	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54600369C>G	ENST00000284648.6	-	4	350	c.153G>C	c.(151-153)ttG>ttC	p.L51F	OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000351806.4_Missense_Mutation_p.L40F|OSCAR_ENST00000358375.4_Missense_Mutation_p.L51F|OSCAR_ENST00000391761.1_Missense_Mutation_p.L40F|OSCAR_ENST00000356532.3_Missense_Mutation_p.L55F|OSCAR_ENST00000359649.4_Missense_Mutation_p.L55F			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	51	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CCCGGCATCTCAAGGTCACGT	0.592000													28	122					0	0	0.008361	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122962395	122962395	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122962395G>A	ENST00000543897.1	-	11	2979	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ZCCHC8_ENST00000336229.4_Silent_p.L446L|ZCCHC8_ENST00000536306.1_Silent_p.L208L|ZCCHC8_ENST00000538116.1_Silent_p.L57L			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	446						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TACCTGAATCGAGCTCCATGT	0.463000													14	43					0	0	0.001855	0	0
ICAM5	7087	broad.mit.edu	37	19	10402810	10402810	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10402810C>T	ENST00000221980.4	+	4	836	c.773C>T	c.(772-774)tCa>tTa	p.S258L		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	258	Ig-like C2-type 3.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTTCCAGCCTCAGAGGCCAGG	0.647000													6	111					0	0	0.001168	0	0
BNC1	646	broad.mit.edu	37	15	83932315	83932315	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:83932315G>A	ENST00000345382.2	-	4	1773	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	BNC1_ENST00000569704.1_Missense_Mutation_p.S556L|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	563					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTCTTCATCTGAGCTGAGGTT	0.478000													25	174					0	0	0.008361	0	0
ZFP1	162239	broad.mit.edu	37	16	75203755	75203755	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:75203755C>T	ENST00000393430.2	+	4	871	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ZFP1_ENST00000570010.1_Silent_p.F249F|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.F216F			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						GAAAAGCTTTCACCCACCAGT	0.443000													28	59					0	0	0.009535	0	0
MEX3D	399664	broad.mit.edu	37	19	1556393	1556393	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1556393C>G	ENST00000402693.4	-	2	1124	c.1125G>C	c.(1123-1125)aaG>aaC	p.K375N	MEX3D_ENST00000388824.6_Missense_Mutation_p.K375N	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	375					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGGGGGTCTTGGCCCAGA	0.776000													3	9					0	0	0.009096	0	0
MYBL1	4603	broad.mit.edu	37	8	67504755	67504755	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:67504755C>T	ENST00000522677.3	-	8	1197	c.787G>A	c.(787-789)Gat>Aat	p.D263N	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D263N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	263	Transcriptional activation domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTTCCTTATCAGGATCTTCA	0.284000													6	89					0	0	0.001168	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32843968	32843968	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:32843968C>G	ENST00000420878.3	-	3	804	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E117Q|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E117Q	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	117	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						ACAGCTTCCTCTCCATTCTCT	0.498000													11	70					0	0	0.010729	0	0
OR13D1	286365	broad.mit.edu	37	9	107456838	107456838	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:107456838C>G	ENST00000318763.5	+	1	179	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGAATTCTTTCTGGTGGGGCT	0.438000													27	69					0	0	0.004656	0	0
NEURL2	140825	broad.mit.edu	37	20	44517447	44517447	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:44517447C>A	ENST00000372518.4	-	2	1103	c.808G>T	c.(808-810)Gat>Tat	p.D270Y		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	270	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGGAGCCCATCAATGGCCAGC	0.542000													5	73					0.000602214	0.000614207	0.000602	1	0
SEC24D	9871	broad.mit.edu	37	4	119736304	119736304	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:119736304G>C	ENST00000379735.5	-	6	954	c.683C>G	c.(682-684)tCt>tGt	p.S228C	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.S227C	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	227	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGGGGACCAGAGTTGGCTGC	0.498000													20	64					0	0	0.010504	0	0
ZNF625	90589	broad.mit.edu	37	19	12256165	12256165	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:12256165C>T	ENST00000355738.1	-	4	1217	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	ZNF625_ENST00000542938.1_Missense_Mutation_p.E290K|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.E356K			Q96I27	ZN625_HUMAN	zinc finger protein 625	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CAGGGTTTTTCTCCAGTGTGA	0.428000													39	72					0	0	0.004878	0	0
MICAL2	9645	broad.mit.edu	37	11	12263802	12263802	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:12263802C>G	ENST00000256194.4	+	19	2667	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Silent_p.L793L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	793						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGAGAGCTCAAGCAAGTGT	0.562000													10	29					0	0	0.008291	0	0
BAD	572	broad.mit.edu	37	11	64037697	64037697	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64037697G>A	ENST00000394532.3	-	3	761	c.491C>T	c.(490-492)tCc>tTc	p.S164F	BAD_ENST00000544785.1_Silent_p.L100L|BAD_ENST00000309032.3_Missense_Mutation_p.S164F	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	164					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGAGGGGGCGGAGCTTCCCCT	0.637000													11	42					0	0	0.013537	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19764535	19764535	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:19764535C>T	ENST00000397821.3	-	3	477	c.187G>A	c.(187-189)Gac>Aac	p.D63N	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D26N|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D63N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	63					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTGAGAGGGTCTTTCTTCATC	0.403000													54	51					0	0	0.014410	0	0
ACACB	32	broad.mit.edu	37	12	109629726	109629726	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:109629726C>T	ENST00000338432.7	+	15	2489	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	ACACB_ENST00000377854.5_Silent_p.C790C|ACACB_ENST00000377848.3_Silent_p.C790C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	790					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAGAACGTGCATGACAGATT	0.517000													6	76					0	0	0.001168	0	0
CPB2	1361	broad.mit.edu	37	13	46629983	46629983	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:46629983G>C	ENST00000181383.4	-	10	1017	c.999_splice	c.e10-1	p.S334_splice	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Splice_Site_p.S297_splice	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	334					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GGCTACTAGAGACTGGAAGCA	0.333000													16	72					0	0	0.010504	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927287	92927287	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:92927287G>C	ENST00000373079.3	-	1	1280	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	339					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						CATCCGACAAGAACTTCAGAA	0.423000													14	27					0	0	0.003163	0	0
NT5DC2	64943	broad.mit.edu	37	3	52559068	52559068	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:52559068C>G	ENST00000307076.4	-	12	1547	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	NT5DC2_ENST00000422318.2_Missense_Mutation_p.E420Q|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E395Q|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E324Q	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	383							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		ATCTCACGCTCCAGCTCGGGG	0.682000													3	14					0	0	0.004672	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68707045	68707045	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:68707045G>A	ENST00000255078.3	+	15	2939	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	943					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCAGAGAATCAGCCGG	0.642000													16	60					0	0	0.004990	0	0
TCHH	7062	broad.mit.edu	37	1	152079998	152079998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152079998C>T	ENST00000368804.1	-	2	5694	c.5695G>A	c.(5695-5697)Ggg>Agg	p.G1899R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1899					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)			TTTATCTCCCCGACTTGGCGG	0.582000													27	105					0	0	0.006320	0	0
STK38	11329	broad.mit.edu	37	6	36475338	36475338	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:36475338C>T	ENST00000229812.7	-	8	996	c.711G>A	c.(709-711)ctG>ctA	p.L237L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	237	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGCTTTTTTCAGTCCTGTGC	0.408000													92	176					0	0	0.014410	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975904	76975904	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:76975904C>G	ENST00000409911.1	-	3	1916	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	LRRTM4_ENST00000409093.1_Missense_Mutation_p.E564Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E564Q	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	564						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CGGCCCAGCTCCAGGCCGGGG	0.602000													32	121					0	0	0.003755	0	0
GCNT4	51301	broad.mit.edu	37	5	74324700	74324700	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:74324700C>T	ENST00000322348.4	-	1	2024	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	388					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ACACACGCTTCGAAGGTGAGA	0.418000													24	64					0	0	0.009535	0	0
S100A2	6273	broad.mit.edu	37	1	153533966	153533966	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:153533966G>A	ENST00000368708.3	-	3	615	c.243C>T	c.(241-243)ctC>ctT	p.L81L	S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368710.1_Silent_p.L81L|S100A2_ENST00000497140.1_Silent_p.L48L|S100A2_ENST00000487430.2_Silent_p.L81L|S100A2_ENST00000368709.1_Silent_p.L81L	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	82	EF-hand 2.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACAGTGATGAGTGCCAGGA	0.542000													4	184					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179611231	179611231	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179611231G>A	ENST00000360870.5	-	46	16118	c.15896C>T	c.(15895-15897)aCc>aTc	p.T5299I	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8817	Ig-like 33.						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)			TGATGATGTGGTGTGTTCCAA	0.408000													13	34					0	0	0.013537	0	0
DIP2C	22982	broad.mit.edu	37	10	436786	436786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:436786C>G	ENST00000280886.6	-	11	1365	c.1278G>C	c.(1276-1278)caG>caC	p.Q426H	DIP2C_ENST00000381496.3_Missense_Mutation_p.Q319H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	426						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)		AGAAACCTATCTGCTGGCTCC	0.572000													34	121					0	0	0.003271	0	0
EMD	2010	broad.mit.edu	37	X	153608306	153608306	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:153608306G>C	ENST00000369842.4	+	3	480	c.192G>C	c.(190-192)ttG>ttC	p.L64F	EMD_ENST00000369835.3_Missense_Mutation_p.L29F|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	64	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	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)					ATCCAGACTTGAATTCGACTA	0.567000													69	100					0	0	0.014410	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657384	100657384	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657384C>A	ENST00000416321.1	-	2	447	c.445G>T	c.(445-447)Gaa>Taa	p.E149*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	149	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TCTTCAAATTCTAATTCCTTT	0.338000													27	51					2.44723e-14	2.60723e-14	0.004656	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103047052	103047052	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:103047052G>C	ENST00000375735.2	+	37	5907	c.5763G>C	c.(5761-5763)ctG>ctC	p.L1921L	DYNC2H1_ENST00000398093.3_Silent_p.L1921L|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	1921					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)		TTGATGCACTGATAAAAGATG	0.363000													5	18					0	0	0.001168	0	0
TRIB2	28951	broad.mit.edu	37	2	12858450	12858450	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:12858450C>G	ENST00000155926.4	+	1	1436	c.17C>G	c.(16-18)tCt>tGt	p.S6C	TRIB2_ENST00000405331.3_Missense_Mutation_p.S6C|TRIB2_ENST00000381465.2_Intron	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	6					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATACACAGGTCTACCCCCATC	0.537000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	62					0	0	0.001984	0	0
RBM28	55131	broad.mit.edu	37	7	127975631	127975631	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:127975631C>G	ENST00000223073.1	-	8	1026	c.912G>C	c.(910-912)caG>caC	p.Q304H	RBM28_ENST00000415472.2_Missense_Mutation_p.Q163H	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	304					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						TGGTATCACTCTGAGCCAGTT	0.423000													5	37					0	0	0.001168	0	0
COLQ	8292	broad.mit.edu	37	3	15512102	15512102	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15512102C>T	ENST00000383785.2	-	11	783	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	COLQ_ENST00000383781.4_Missense_Mutation_p.E210K|COLQ_ENST00000383786.5_Missense_Mutation_p.E186K|COLQ_ENST00000383788.5_Missense_Mutation_p.E220K|COLQ_ENST00000435459.2_Missense_Mutation_p.E210K|COLQ_ENST00000383787.2_Missense_Mutation_p.E211K|COLQ_ENST00000603808.1_Missense_Mutation_p.E220K			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	220	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATCCCAGGTTCACCTTTTGGA	0.537000													63	194					0	0	0.014410	0	0
ICAM1	3383	broad.mit.edu	37	19	10395703	10395703	+	Splice_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10395703C>T	ENST00000264832.3	+	6	1750	c.1426_splice	c.e6+1	p.L475_splice	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Splice_Site_p.L253_splice	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	475					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGAATGTGCTCTGTGAGTGAG	0.622000													15	37					0	0	0.006122	0	0
KLHL3	26249	broad.mit.edu	37	5	137028128	137028128	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137028128G>A	ENST00000541417.1	-	3	559	c.17C>T	c.(16-18)tCc>tTc	p.S6F	KLHL3_ENST00000508657.1_Silent_p.L92L|KLHL3_ENST00000506491.1_Silent_p.L42L|KLHL3_ENST00000394937.3_Silent_p.L124L|KLHL3_ENST00000309755.4_Silent_p.L124L			Q9UH77	KLHL3_HUMAN	kelch-like family member 3	0						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGCTGCCGGGAGCAGCACCT	0.527000													8	43					0	0	0.004482	0	0
GPR110	266977	broad.mit.edu	37	6	46977535	46977535	+	Missense_Mutation	SNP	C	C	T	rs112946460		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977535C>T	ENST00000371253.2	-	11	1851	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	GPR110_ENST00000283297.5_Missense_Mutation_p.D349N|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	546	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CAgcctgcatcgttccactgc	0.433000													13	43					0	0	0.001855	0	0
HSD11B2	3291	broad.mit.edu	37	16	67469873	67469873	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:67469873C>T	ENST00000326152.5	+	3	624	c.492C>T	c.(490-492)ctC>ctT	p.L164L	HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	164					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TGTGGGGCCTCGTCAACAACG	0.602000													22	78					0	0	0.004656	0	0
TACC2	10579	broad.mit.edu	37	10	123976183	123976183	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:123976183C>G	ENST00000369005.1	+	11	7726	c.7386C>G	c.(7384-7386)atC>atG	p.I2462M	TACC2_ENST00000369001.1_Missense_Mutation_p.I166M|TACC2_ENST00000453444.2_Missense_Mutation_p.I2466M|TACC2_ENST00000368999.1_Missense_Mutation_p.I552M|TACC2_ENST00000360561.3_Missense_Mutation_p.I540M|TACC2_ENST00000513429.1_Missense_Mutation_p.I608M|TACC2_ENST00000334433.3_Missense_Mutation_p.I2462M|TACC2_ENST00000515603.1_Missense_Mutation_p.I2417M|TACC2_ENST00000358010.1_Missense_Mutation_p.I608M|TACC2_ENST00000260733.3_Missense_Mutation_p.I540M|TACC2_ENST00000515273.1_Missense_Mutation_p.I2466M|TACC2_ENST00000369000.1_Missense_Mutation_p.I162M|TACC2_ENST00000369004.3_Missense_Mutation_p.I552M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2462						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CACCAGTGATCTCTGCGGTGG	0.537000													4	101					0	0	0.009096	0	0
PPM1N	147699	broad.mit.edu	37	19	46002055	46002055	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:46002055C>G	ENST00000324688.4	+	1	191	c.91C>G	c.(91-93)Cga>Gga	p.R31G	PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.R109G			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	109	Poly-Glu.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CGGTGGGGCTCGAGCTGCCCG	0.711000													2	3					0	0	0.004672	0	0
EGFL8	80864	broad.mit.edu	37	6	32135415	32135415	+	Missense_Mutation	SNP	G	G	C	rs17853434		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:32135415G>C	ENST00000395512.1	+	8	922	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	EGFL8_ENST00000333845.6_Missense_Mutation_p.E273Q|EGFL8_ENST00000489721.1_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	273				E -> Q (in Ref. 6; AAH35574).		extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GCTGCTGCTGGAGGAGAGGCT	0.612000													23	28					0	0	0.005443	0	0
MTIF2	4528	broad.mit.edu	37	2	55471167	55471167	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55471167C>G	ENST00000394600.3	-	12	2045	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	MTIF2_ENST00000263629.4_Missense_Mutation_p.E437Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.E437Q	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	437					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGATACACCTCAGATTCTACT	0.338000													7	31					0	0	0.003080	0	0
C2orf44	80304	broad.mit.edu	37	2	24255769	24255769	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:24255769G>A	ENST00000295148.4	-	3	1923	c.1866C>T	c.(1864-1866)ctC>ctT	p.L622L	C2orf44_ENST00000406895.3_Intron	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	622							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCATCACAGAGAAGCACCG	0.383000			T	ALK	NSCLC								46	151					0	0	0.014410	0	0
POLRMT	5442	broad.mit.edu	37	19	621366	621366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:621366C>A	ENST00000588649.2	-	10	2416	c.2332G>T	c.(2332-2334)Gag>Tag	p.E778*		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	778					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAGCGCCTCCGCCCGCAGG	0.746000													4	10					0.00909568	0.0092113	0.009096	1	0
NCK1	4690	broad.mit.edu	37	3	136664663	136664663	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:136664663C>A	ENST00000469404.1	+	2	364	c.273C>A	c.(271-273)ttC>ttA	p.F91L	NCK1_ENST00000288986.2_Missense_Mutation_p.F155L|NCK1_ENST00000481752.1_Missense_Mutation_p.F155L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	155					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTGGATGGTTCCCTTCAAACT	0.443000													19	169					1.15919e-05	1.1976e-05	0.008871	1	0
DEF6	50619	broad.mit.edu	37	6	35280429	35280429	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35280429G>A	ENST00000316637.5	+	5	692	c.687G>A	c.(685-687)ctG>ctA	p.L229L	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	229	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAGGGCACCTGAGAAGGAACT	0.612000													3	29					0	0	0.004672	0	0
GALNT12	79695	broad.mit.edu	37	9	101608279	101608279	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101608279G>C	ENST00000375011.3	+	9	1479	c.1479G>C	c.(1477-1479)caG>caC	p.Q493H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	493	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ACACGTCCCAGAAAGAAATAC	0.483000													11	41					0	0	0.008291	0	0
CAPS2	84698	broad.mit.edu	37	12	75692498	75692498	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:75692498C>T	ENST00000393284.3	-	11	975	c.374G>A	c.(373-375)gGa>gAa	p.G125E	CAPS2_ENST00000409445.3_Missense_Mutation_p.G357E|CAPS2_ENST00000409799.1_Missense_Mutation_p.G275E|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	357			L -> F (in dbSNP:rs10879901).				calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTATTGTTTTCCTTTTCTTCG	0.353000													13	50					0	0	0.002450	0	0
NR1H3	10062	broad.mit.edu	37	11	47283391	47283391	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:47283391G>A	ENST00000481889.2	+	5	1035	c.867G>A	c.(865-867)gaG>gaA	p.E289E	NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000467728.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	185	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGATGAGGAGAATCGGCCTC	0.577000													21	68					0	0	0.008871	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595607	44595607	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:44595607C>T	ENST00000245121.5	+	9	820	c.626C>T	c.(625-627)aCa>aTa	p.T209I	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.T281I	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	281						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CAGCTATTTACAGGAATTCTT	0.463000													25	94					0	0	0.005443	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612228	44612228	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:44612228G>C	ENST00000273320.3	+	6	2055	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q542H	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		TTGACCATCAGAGAATCCACA	0.463000													48	123					0	0	0.014410	0	0
PLOD2	5352	broad.mit.edu	37	3	145828128	145828128	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:145828128C>G	ENST00000282903.5	-	4	623	c.446G>C	c.(445-447)aGa>aCa	p.R149T	PLOD2_ENST00000494950.1_Missense_Mutation_p.R94T|PLOD2_ENST00000360060.3_Missense_Mutation_p.R149T	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	149					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	GTCTGCTAGTCTTTTATCTGG	0.388000													25	76					0	0	0.008361	0	0
MITF	4286	broad.mit.edu	37	3	70014321	70014321	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:70014321C>T	ENST00000352241.4	+	10	1648	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	MITF_ENST00000531774.1_Silent_p.S332S|MITF_ENST00000448226.2_Silent_p.S501S|MITF_ENST00000394355.2_Silent_p.S470S|MITF_ENST00000472437.1_Silent_p.S443S|MITF_ENST00000394351.3_Silent_p.S394S|MITF_ENST00000328528.6_Silent_p.S494S|MITF_ENST00000314589.5_Silent_p.S479S|MITF_ENST00000314557.6_Silent_p.S388S	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	501					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CACTCCTTTCCTCAGTGTCCC	0.532000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						20	74					0	0	0.014323	0	0
TTC30B	150737	broad.mit.edu	37	2	178415907	178415907	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:178415907C>G	ENST00000408939.2	-	1	1835	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	529					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GAGAGCTGCTCTTCCTCCTTT	0.378000													64	143					0	0	0.014410	0	0
SEPT9	10801	broad.mit.edu	37	17	75398526	75398526	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:75398526C>T	ENST00000329047.8	+	2	1220	c.408C>T	c.(406-408)atC>atT	p.I136I	SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Silent_p.I154I|SEPT9_ENST00000590294.1_Silent_p.I136I|SEPT9_ENST00000423034.2_Silent_p.I147I|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.I135I|SEPT9_ENST00000449803.2_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	154					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGATCACCATCGTCAAACCCC	0.706000													8	13					0	0	0.010729	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515108	47515108	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:47515108G>C	ENST00000371901.3	+	11	1537	c.1287G>C	c.(1285-1287)ttG>ttC	p.L429F	CYP4X1_ENST00000538609.1_Missense_Mutation_p.L428F	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	429						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGACCCCTTGAGGTTCTCTC	0.458000													36	95					0	0	0.008740	0	0
MACROD1	28992	broad.mit.edu	37	11	63767135	63767135	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63767135C>T	ENST00000255681.6	-	6	831	c.765G>A	c.(763-765)ctG>ctA	p.L255L	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	255	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCGGTGCTCCAGCAGCAGGT	0.716000													4	22					0	0	0.000602	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566301	27566301	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566301C>A	ENST00000359541.2	-	2	550	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.E41*			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	41						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCATTTCTGAAGAGGTC	0.542000													6	239					2.52707e-12	2.68431e-12	0.006214	1	0
FER1L5	90342	broad.mit.edu	37	2	97361634	97361634	+	RNA	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:97361634G>C	ENST00000457909.1	+	0	3553							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGCACCCAAAGCTTCCAAGTA	0.632000													6	29					0	0	0.003080	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566274	27566274	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566274C>G	ENST00000359541.2	-	2	577	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E50Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	50						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACATCTCTACGGAAGCC	0.522000													5	254					0	0	0.008291	0	0
SOX7	83595	broad.mit.edu	37	8	10583925	10583925	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:10583925C>G	ENST00000304501.1	-	2	568	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	SOX7_ENST00000554914.1_Missense_Mutation_p.E216Q|SOX7_ENST00000553390.1_Missense_Mutation_p.E216Q	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	164					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGGAGTACTCACCCCTGTCC	0.726000													8	15					0	0	0.004482	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142283207	142283207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:142283207G>T	ENST00000378004.3	+	8	1160	c.805G>T	c.(805-807)Gag>Tag	p.E269*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.E269*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	269	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTACACCATGGAGGGATACCT	0.473000													22	73					2.89027e-11	3.05202e-11	0.014323	1	0
SON	6651	broad.mit.edu	37	21	34931614	34931614	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:34931614G>A	ENST00000356577.4	+	5	6875	c.6400G>A	c.(6400-6402)Gaa>Aaa	p.E2134K	SON_ENST00000300278.4_Missense_Mutation_p.E2134K|SON_ENST00000381692.2_Missense_Mutation_p.E162K|SON_ENST00000290239.6_Missense_Mutation_p.E2134K	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2134					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAAGAGGAAGAAGAACCTCC	0.323000													11	143					0	0	0.010729	0	0
ABCC4	10257	broad.mit.edu	37	13	95858999	95858999	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:95858999G>A	ENST00000376887.4	-	8	1062	c.948C>T	c.(946-948)ctC>ctT	p.L316L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L241L|ABCC4_ENST00000431522.1_Silent_p.L316L|ABCC4_ENST00000412704.1_Silent_p.L316L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	316	ABC transmembrane type-1 1.				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)	TCATCCCTCTGAGGCAGGAAC	0.463000													21	220					0	0	0.013114	0	0
CCDC57	284001	broad.mit.edu	37	17	80141798	80141798	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80141798C>T	ENST00000392347.1	-	8	1099	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	CCDC57_ENST00000392343.3_Missense_Mutation_p.D355N|CCDC57_ENST00000389641.4_Missense_Mutation_p.D355N|CCDC57_ENST00000327026.3_5'UTR	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	355										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTGATGCATCTTCACGAAGT	0.453000													24	32					0	0	0.003330	0	0
COL11A2	1302	broad.mit.edu	37	6	33154361	33154361	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:33154361C>T	ENST00000395194.1	-	5	1054	c.841G>A	c.(841-843)Gag>Aag	p.E281K	COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron	NM_001163771.1	NP_001157243.1	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1217	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTCTTCCCTCTCTGGGGTGT	0.567000													19	32					0	0	0.007413	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122967208	122967208	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:122967208C>G	ENST00000336229.4	-	8	836	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	236						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATTTGGTGTTCTTCAGAACCA	0.289000													14	44					0	0	0.006122	0	0
IGSF10	285313	broad.mit.edu	37	3	151155923	151155923	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:151155923C>T	ENST00000282466.3	-	6	6425	c.6426G>A	c.(6424-6426)cgG>cgA	p.R2142R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2142	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTGCCTTATCCGGGGAGCAG	0.458000													25	62					0	0	0.004656	0	0
HECTD4	283450	broad.mit.edu	37	12	112699141	112699141	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:112699141G>A	ENST00000550722.1	-	18	2798	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	HECTD4_ENST00000430131.2_Silent_p.L515L|HECTD4_ENST00000377560.5_Silent_p.L765L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CACTATTTATGAGGGCAGTTG	0.458000													19	55					0	0	0.010504	0	0
TTI2	80185	broad.mit.edu	37	8	33369604	33369604	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:33369604G>A	ENST00000431156.2	-	2	1146	c.528C>T	c.(526-528)ctC>ctT	p.L176L	TTI2_ENST00000360742.5_Silent_p.L176L|TTI2_ENST00000520636.1_Silent_p.L176L	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	176							binding										GCAGTGAGGTGAGCACCTCCC	0.493000													6	269					0	0	0.001168	0	0
SPATA5L1	79029	broad.mit.edu	37	15	45695714	45695714	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:45695714G>C	ENST00000305560.6	+	1	1186	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E363Q	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	363						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ATTTGACCGAGAGGTGAATGG	0.662000													6	53					0	0	0.003080	0	0
NCF2	4688	broad.mit.edu	37	1	183543724	183543724	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:183543724C>G	ENST00000367535.3	-	4	650	c.399G>C	c.(397-399)aaG>aaC	p.K133N	NCF2_ENST00000367536.1_Missense_Mutation_p.K133N|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	133					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATTCCTCCTTCTTGGCATACA	0.438000													27	79					0	0	0.007291	0	0
VHL	7428	broad.mit.edu	37	3	10188211	10188211	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10188211C>T	ENST00000256474.2	+	2	1194	c.354C>T	c.(352-354)ctC>ctT	p.L118L	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	118	Involved in binding to CCT complex.		L -> P (in VHLD; type I; dbSNP:rs5030830).|L -> R (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.W117fs*40(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.?(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACCTTTGGCTCTTCAGAGATG	0.507000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				58	146					0	0	0.014410	0	0
FBXO18	84893	broad.mit.edu	37	10	5951160	5951160	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5951160C>T	ENST00000379999.5	+	6	1180	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	FBXO18_ENST00000362091.4_Missense_Mutation_p.P308L|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.P45L|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	308					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTGTGGATCCCGAGAGGGTG	0.592000													19	67					0	0	0.008871	0	0
DENND1C	79958	broad.mit.edu	37	19	6471307	6471307	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:6471307C>T	ENST00000381480.2	-	17	1371	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R376Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	420						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGATAGGATCGAAGGGCCCC	0.607000													7	11					0	0	0.006214	0	0
FBXO11	80204	broad.mit.edu	37	2	48063095	48063095	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:48063095C>T	ENST00000403359.3	-	5	705	c.633G>A	c.(631-633)atG>atA	p.M211I	FBXO11_ENST00000402508.1_Missense_Mutation_p.M127I|FBXO11_ENST00000316377.4_Missense_Mutation_p.M127I|FBXO11_ENST00000480038.1_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	211					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCAGGATGCATCATAGGGC	0.328000			"""Mis, F, D"""		DLBCL								7	54					0	0	0.001984	0	0
LIG3	3980	broad.mit.edu	37	17	33316674	33316674	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:33316674C>T	ENST00000378526.4	+	4	1014	c.881C>T	c.(880-882)tCa>tTa	p.S294L	LIG3_ENST00000262327.5_Missense_Mutation_p.S294L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	294					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CGGAAAGGCTCAGCAGGAGGT	0.552000								Other BER factors					21	98					0	0	0.010504	0	0
LRSAM1	90678	broad.mit.edu	37	9	130263396	130263396	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:130263396G>C	ENST00000323301.4	+	24	2624	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E647Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E674Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E674Q	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	674					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCAGGCCTCAGAGTGTGTCGT	0.662000													13	35					0	0	0.013537	0	0
LRP4	4038	broad.mit.edu	37	11	46897369	46897369	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:46897369C>T	ENST00000378623.1	-	26	3927	c.3685G>A	c.(3685-3687)Gat>Aat	p.D1229N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1229					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGGGCATCGGCCCATAGC	0.597000													8	62					0	0	0.006214	0	0
FASN	2194	broad.mit.edu	37	17	80054216	80054216	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:80054216C>T	ENST00000306749.2	-	2	324	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	36	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGACGGTCATCGTCCGTGACC	0.632000													12	92					0	0	0.001855	0	0
TLL2	7093	broad.mit.edu	37	10	98146809	98146809	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98146809G>C	ENST00000357947.3	-	14	1978	c.1753C>G	c.(1753-1755)Cac>Gac	p.H585D		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	585	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.H585N(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACCCGCCGTGATCTGGCCAG	0.592000													18	48					0	0	0.010504	0	0
TRIM28	10155	broad.mit.edu	37	19	59060728	59060728	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:59060728C>A	ENST00000253024.5	+	13	1982	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	TRIM28_ENST00000341753.6_Missense_Mutation_p.P483T	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	565					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CATTGGAGCCCCTCCTACTGC	0.607000													53	195					6.56871e-35	7.09302e-35	0.014410	1	0
MICALL2	79778	broad.mit.edu	37	7	1479682	1479682	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:1479682C>T	ENST00000297508.7	-	9	2020	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	MICALL2_ENST00000405088.4_Silent_p.P403P	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	615						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCCCGCCCTCGGCTCTGCCA	0.687000													28	61					0	0	0.009535	0	0
FER1L6	654463	broad.mit.edu	37	8	125072457	125072457	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:125072457G>C	ENST00000522917.1	+	23	3117	c.2911G>C	c.(2911-2913)Gag>Cag	p.E971Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E971Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	971						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)			CCCACCCGTTGAGCCACCAGA	0.582000													41	119					0	0	0.014410	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499959	59499959	+	Missense_Mutation	SNP	G	G	C	rs139039522		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499959G>C	ENST00000307144.4	+	1	918	c.820G>C	c.(820-822)Gag>Cag	p.E274Q	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	274					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TAAAGATCCTGAGCAATGGAA	0.433000													9	61					0	0	0.004482	0	0
FOXP4	116113	broad.mit.edu	37	6	41552527	41552527	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:41552527G>A	ENST00000373060.1	+	4	779	c.321G>A	c.(319-321)atG>atA	p.M107I	FOXP4_ENST00000307972.4_Missense_Mutation_p.M107I|FOXP4_ENST00000409208.1_Missense_Mutation_p.M107I|FOXP4_ENST00000373063.3_Missense_Mutation_p.M107I|FOXP4_ENST00000373057.3_Missense_Mutation_p.M107I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	107	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGGTGGCCATGATGTCGCCGC	0.662000													3	6					0	0	0.004672	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317643	30317643	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:30317643C>G	ENST00000375377.1	-	3	1535	c.1434G>C	c.(1432-1434)caG>caC	p.Q478H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	478										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTATTAAGCTCTGTGGATTCC	0.572000													43	124					0	0	0.010771	0	0
CELF6	60677	broad.mit.edu	37	15	72608214	72608214	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72608214G>A	ENST00000287202.5	-	2	571	c.317C>T	c.(316-318)gCa>gTa	p.A106V	RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.A106V	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	106	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTCGTGCAGTGCACTCTGGGC	0.627000													7	13					0	0	0.003080	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613993	81613993	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:81613993C>T	ENST00000380167.4	+	10	1874	c.549C>T	c.(547-549)atC>atT	p.I183I	ATP6AP1L_ENST00000439350.1_Silent_p.I183I|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	183					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						ATGATCTCATCGCCTCTCCTG	0.557000													17	70					0	0	0.004990	0	0
LTB4R	1241	broad.mit.edu	37	14	24785338	24785338	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24785338T>C	ENST00000396789.4	+	2	2206	c.481T>C	c.(481-483)Tgg>Cgg	p.W161R	LTB4R_ENST00000396782.2_Missense_Mutation_p.W161R|LTB4R_ENST00000345363.3_Missense_Mutation_p.W161R	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	161					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		AGTAGTGCCCTGGAAAACGAA	0.637000													3	119					0	0	0.004672	0	0
RBM38	55544	broad.mit.edu	37	20	55982766	55982766	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:55982766C>T	ENST00000356208.5	+	4	759	c.584C>T	c.(583-585)tCg>tTg	p.S195L	RBM38_ENST00000371219.2_Missense_Mutation_p.S114L|RBM38_ENST00000440234.2_3'UTR	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	195					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			TACGCCGCCTCGCCTGCCACG	0.692000													8	20					0	0	0.004482	0	0
LRRC30	339291	broad.mit.edu	37	18	7232012	7232012	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:7232012C>G	ENST00000383467.2	+	1	890	c.876C>G	c.(874-876)ttC>ttG	p.F292L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	292								p.F292F(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTCTTCGGCTACCTGA	0.587000													66	137					0	0	0.014410	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935785	94935785	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:94935785C>G	ENST00000337425.5	-	2	521	c.447G>C	c.(445-447)aaG>aaC	p.K149N	SERPINA9_ENST00000380365.3_Missense_Mutation_p.K131N|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K113N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K51N|SERPINA9_ENST00000424550.2_5'UTR	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	131					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACTTCCCATCTTCAAGGTCA	0.512000													30	153					0	0	0.012213	0	0
KIF27	55582	broad.mit.edu	37	9	86518637	86518637	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:86518637G>C	ENST00000297814.2	-	4	939	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	KIF27_ENST00000413982.1_Missense_Mutation_p.Q266E|KIF27_ENST00000334204.2_Missense_Mutation_p.Q266E	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	266	Kinesin-motor.				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						CTATTGATTTGAATGGATTCT	0.428000													30	81					0	0	0.009535	0	0
APBB2	323	broad.mit.edu	37	4	41016114	41016114	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:41016114G>A	ENST00000295974.8	-	6	950	c.321C>T	c.(319-321)ctC>ctT	p.L107L	APBB2_ENST00000506352.1_Silent_p.L107L|APBB2_ENST00000513140.1_Silent_p.L107L|APBB2_ENST00000508593.1_Silent_p.L107L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	107					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGCCTTACGGAGCTGGTTCT	0.562000													23	70					0	0	0.003954	0	0
TMEM95	339168	broad.mit.edu	37	17	7259355	7259355	+	Silent	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7259355T>C	ENST00000389982.4	+	4	397	c.315T>C	c.(313-315)tgT>tgC	p.C105C	TMEM95_ENST00000330767.4_Silent_p.C105C|TMEM95_ENST00000576060.1_Silent_p.C105C			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	105						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CAGCTCTCTGTCCCCCCGCCT	0.592000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	104					0	0	0.001855	0	0
ZNF521	25925	broad.mit.edu	37	18	22805754	22805754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:22805754G>A	ENST00000361524.3	-	4	2276	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q490*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q710*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	710					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGTGTTTCTGAAGGTCATCC	0.443000			T	PAX5	ALL								24	101					0	0	0.004656	0	0
C22orf23	84645	broad.mit.edu	37	22	38349119	38349119	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38349119C>G	ENST00000249079.2	-	2	294	c.38G>C	c.(37-39)gGa>gCa	p.G13A	POLR2F_ENST00000484894.1_Intron|C22orf23_ENST00000403026.1_Missense_Mutation_p.G13A|C22orf23_ENST00000403305.1_Missense_Mutation_p.G13A			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	13										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GAACCCAGTTCCTTTGGTCAC	0.577000													39	143					0	0	0.006230	0	0
TBL1X	6907	broad.mit.edu	37	X	9679750	9679750	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:9679750C>T	ENST00000217964.7	+	16	2179	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	TBL1X_ENST00000424279.1_Silent_p.F462F|TBL1X_ENST00000380961.1_Silent_p.F462F|TBL1X_ENST00000536365.1_Silent_p.F462F|TBL1X_ENST00000407597.2_Silent_p.F513F	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	513					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GCGTAGCTTTCAGCCCTGATG	0.527000													15	21					0	0	0.004007	0	0
JPH1	56704	broad.mit.edu	37	8	75227373	75227373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:75227373C>T	ENST00000342232.4	-	2	902	c.862G>A	c.(862-864)Gac>Aac	p.D288N		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	288					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTGCGCTTGTCGTTCTTCCAC	0.542000													50	122					0	0	0.014410	0	0
RALGDS	5900	broad.mit.edu	37	9	135975666	135975666	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:135975666G>C	ENST00000393160.3	-	17	2746	c.2393C>G	c.(2392-2394)tCa>tGa	p.S798*	RALGDS_ENST00000372047.3_Nonsense_Mutation_p.S841*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.S824*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.S852*|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.S924*|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.S853*	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	853	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCGGTCATCTGAGAGAATCTG	0.582000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								79	253					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179572396	179572396	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179572396G>A	ENST00000589042.1	-	100	29122	c.28898C>T	c.(28897-28899)tCa>tTa	p.S9633L	TTN_ENST00000591111.1_Missense_Mutation_p.S9316L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8389L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9316							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)			GCATCTGTCTGAAGGCTTTAT	0.483000													18	36					0	0	0.007413	0	0
MEGF6	1953	broad.mit.edu	37	1	3427384	3427384	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:3427384G>A	ENST00000356575.4	-	10	1423	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	MEGF6_ENST00000294599.4_Silent_p.A294A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	399	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGGTAGCCGGCGTAGCAGC	0.672000													30	41					0	0	0.010818	0	0
CCDC104	112942	broad.mit.edu	37	2	55747049	55747049	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:55747049G>A	ENST00000349456.4	+	1	260	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CCDC104_ENST00000407816.3_Missense_Mutation_p.E38K|CCDC104_ENST00000403007.3_Missense_Mutation_p.E38K|CCDC104_ENST00000339012.3_Missense_Mutation_p.E38K|CCDC104_ENST00000406691.3_Missense_Mutation_p.E38K			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	38										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAGAAATGTGAAGGTAAAAA	0.567000													26	50					0	0	0.003330	0	0
PYCARD	29108	broad.mit.edu	37	16	31213912	31213912	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:31213912C>G	ENST00000247470.9	-	1	401	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	PYCARD_ENST00000350605.4_Missense_Mutation_p.E34Q|C16orf98_ENST00000561916.2_Silent_p.L46L	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	34	DAPIN.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	p.E34K(1)		NS(1)|kidney(1)	2						CCGTAGCCCTCGCGCAGCGGC	0.677000													20	31					0	0	0.008871	0	0
ZNF343	79175	broad.mit.edu	37	20	2474463	2474463	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474463C>G	ENST00000278772.4	-	3	566	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	ZNF343_ENST00000358413.2_Missense_Mutation_p.E27Q|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E27Q|ZNF343_ENST00000381253.1_Missense_Mutation_p.E27Q	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E27K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TTCATAGTCTCTACATTTTCC	0.473000													36	161					0	0	0.003271	0	0
RPL15	6138	broad.mit.edu	37	3	23959350	23959350	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:23959350G>A	ENST00000307839.5	+	0	639				NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000413699.1_De_novo_Start_InFrame|RPL15_ENST00000354811.5_De_novo_Start_InFrame|RPL15_ENST00000415719.1_De_novo_Start_InFrame|RPL15_ENST00000456530.2_De_novo_Start_InFrame|RPL15_ENST00000435882.1_De_novo_Start_InFrame	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						GGTAAGCCAAGATGGGTGCAT	0.453000													24	72					0	0	0.005443	0	0
AGO3	192669	broad.mit.edu	37	1	36506033	36506033	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:36506033G>C	ENST00000373191.4	+	16	2512	c.2163G>C	c.(2161-2163)agG>agC	p.R721S	AGO3_ENST00000246314.6_Missense_Mutation_p.R487S	NM_024852.3	NP_079128.2			argonaute RISC catalytic component 3																		GTGCTGATAGGACAGAAAGGG	0.413000													26	75					0	0	0.009535	0	0
USP50	373509	broad.mit.edu	37	15	50830917	50830917	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:50830917G>A	ENST00000532404.1	-	5	965	c.792C>T	c.(790-792)ttC>ttT	p.F264F	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	264					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TTTTTAGGTGGAAAATAATTA	0.368000													6	5					0	0	0.001168	0	0
TRGC2	6967	broad.mit.edu	37	7	38288871	38288871	+	RNA	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:38288871C>G	ENST00000436911.2	-	0	302																											AAGATAATTTCTTGATCAATT	0.348000													13	61					0	0	0.013537	0	0
PTMA	5757	broad.mit.edu	37	2	232576621	232576621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:232576621G>T	ENST00000409115.3	+	3	337	c.139G>T	c.(139-141)Gag>Tag	p.E47*	PTMA_ENST00000341369.7_Nonsense_Mutation_p.E48*|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E68*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E73*|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E47*	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	48	Asp/Glu-rich (acidic).				transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGGGAGCAGGAGGCTGACAA	0.547000													6	9					3.59834e-05	3.691e-05	0.001168	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232649741	232649741	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:232649741G>A	ENST00000366630.1	-	2	1703	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H449Y			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	449					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTTGTGCAGTGAGAGCTGAGT	0.522000													46	142					0	0	0.014410	0	0
SBF2	81846	broad.mit.edu	37	11	9875240	9875240	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:9875240C>G	ENST00000256190.8	-	20	2520	c.2383G>C	c.(2383-2385)Gag>Cag	p.E795Q	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	795					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TCATAGCTCTCAGCTACACTT	0.373000													18	142					0	0	0.006122	0	0
KAT6B	23522	broad.mit.edu	37	10	76789241	76789241	+	Silent	SNP	C	C	T	rs147158118		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:76789241C>T	ENST00000287239.4	+	18	5148	c.4659C>T	c.(4657-4659)agC>agT	p.S1553S	KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372724.1_Silent_p.S1261S|KAT6B_ENST00000372725.1_Silent_p.S1261S|KAT6B_ENST00000372714.1_Silent_p.S1261S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1553					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AGGAGAGCAGCGAACAGGACG	0.527000													15	110					0	0	0.006122	0	0
ANO5	203859	broad.mit.edu	37	11	22301235	22301235	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22301235G>T	ENST00000324559.8	+	22	2983	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	889						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGAACTTGGGAATTAATTCT	0.363000													7	75					0.00198382	0.00202045	0.001984	1	0
GJB6	10804	broad.mit.edu	37	13	20797248	20797248	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:20797248C>T	ENST00000356192.6	-	5	992	c.372G>A	c.(370-372)caG>caA	p.Q124Q	GJB6_ENST00000241124.6_Silent_p.Q124Q|GJB6_ENST00000400065.3_Silent_p.Q124Q|GJB6_ENST00000400066.3_Silent_p.Q124Q	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	124				Q -> H (in Ref. 1; CAA06611).	cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TCCGAACCTTCTGCTTTTTAA	0.463000													15	48					0	0	0.006122	0	0
NNT	23530	broad.mit.edu	37	5	43616149	43616149	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43616149C>T	ENST00000264663.5	+	4	802	c.581C>T	c.(580-582)tCc>tTc	p.S194F	NNT_ENST00000344920.4_Missense_Mutation_p.S194F|NNT_ENST00000512996.2_Missense_Mutation_p.S63F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	194					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCGCTAAGCTCCATGGCCAAC	0.433000													64	133					0	0	0.014410	0	0
ZFP2	80108	broad.mit.edu	37	5	178358745	178358745	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178358745C>T	ENST00000361362.2	+	5	961	c.431C>T	c.(430-432)tCc>tTc	p.S144F	ZFP2_ENST00000503510.2_Missense_Mutation_p.S144F|ZFP2_ENST00000523286.1_Missense_Mutation_p.S144F|ZFP2_ENST00000520301.1_Missense_Mutation_p.S144F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAACGATCCTCCCTTACTGTA	0.403000													19	58					0	0	0.008871	0	0
DNAJC1	64215	broad.mit.edu	37	10	22208791	22208791	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:22208791G>C	ENST00000376980.3	-	5	895	c.605C>G	c.(604-606)tCa>tGa	p.S202*		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	202					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ACCGAGTTTTGATACATCCAC	0.299000													34	123					0	0	0.005524	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829810	26829810	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:26829810C>G	ENST00000215906.5	+	2	667	c.229C>G	c.(229-231)Cac>Gac	p.H77D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	77					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GTACTGTTATCACGTGGGCAG	0.637000													23	74					0	0	0.003954	0	0
DNAH11	8701	broad.mit.edu	37	7	21695520	21695520	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:21695520C>T	ENST00000328843.6	+	29	5061	c.5030C>T	c.(5029-5031)tCt>tTt	p.S1677F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S1672F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1677	Stem (By similarity).				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						CAGGATGTTTCTGCACACAGG	0.403000									Kartagener syndrome				7	49					0	0	0.003080	0	0
GPR116	221395	broad.mit.edu	37	6	46851916	46851916	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46851916C>G	ENST00000283296.7	-	5	709	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	GPR116_ENST00000265417.7_Missense_Mutation_p.E141Q|GPR116_ENST00000362015.4_Missense_Mutation_p.E141Q|GPR116_ENST00000456426.2_Missense_Mutation_p.E141Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ACGTCACGCTCTTGACAAATG	0.502000													17	125					0	0	0.006122	0	0
RBM4B	83759	broad.mit.edu	37	11	66436418	66436418	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436418G>C	ENST00000525754.1	-	2	1425	c.757C>G	c.(757-759)Caa>Gaa	p.Q253E	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q253E			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	253	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CTTTGGACTTGAGGCAGATGG	0.542000													4	158					0	0	0.009096	0	0
RNF31	55072	broad.mit.edu	37	14	24618025	24618025	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24618025G>C	ENST00000324103.6	+	5	891	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q	RNF31_ENST00000559275.1_Missense_Mutation_p.E40Q|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.E40Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	191	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCAGCTTTCAGAATTTGACCC	0.483000													47	240					0	0	0.014410	0	0
NR2F1	7025	broad.mit.edu	37	5	92929548	92929548	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:92929548G>C	ENST00000327111.3	+	3	2959	c.1272G>C	c.(1270-1272)taG>taC	p.*424Y	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	0					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		AGTGCTCCTAGACCTTGGGCG	0.597000													8	85					0	0	0.003080	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593114	35593114	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:35593114C>T	ENST00000557565.1	+	2	1044	c.663C>T	c.(661-663)atC>atT	p.I221I	KIAA0391_ENST00000603544.1_Silent_p.I221I|KIAA0391_ENST00000534898.4_Silent_p.I221I|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.I221I|KIAA0391_ENST00000250377.7_Silent_p.I126I|KIAA0391_ENST00000604948.1_Silent_p.I126I|KIAA0391_ENST00000605870.1_Intron			O15091	MRRP3_HUMAN	KIAA0391	221					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGGGATTGATCCATTCAGACA	0.373000													17	35					0	0	0.006122	0	0
RHOQ	23433	broad.mit.edu	37	2	46770215	46770215	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:46770215C>T	ENST00000238738.4	+	1	349	c.30C>T	c.(28-30)ctC>ctT	p.L10L	RHOQ_ENST00000465198.1_Intron	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	10					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTGATGCTCAAGTGCGTGG	0.736000													6	49					0	0	0.001168	0	0
TATDN3	128387	broad.mit.edu	37	1	212977943	212977943	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:212977943T>C	ENST00000366974.4	+	7	531	c.437T>C	c.(436-438)gTg>gCg	p.V146A	TATDN3_ENST00000531963.1_Missense_Mutation_p.V146A|TATDN3_ENST00000526641.1_Missense_Mutation_p.V125A|TATDN3_ENST00000526997.1_Missense_Mutation_p.V146A|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.V146A|TATDN3_ENST00000366973.4_Missense_Mutation_p.V146A	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	146						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		AACAGAAATGTGCACTCACGC	0.338000													6	39					0	0	0.001984	0	0
COL5A3	50509	broad.mit.edu	37	19	10085036	10085036	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10085036G>T	ENST00000264828.3	-	46	3476	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1131	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCCTTTCTGCCCAAAGAGG	0.607000													14	38					1.49906e-05	1.54429e-05	0.002450	1	0
ZNF16	7564	broad.mit.edu	37	8	146157135	146157135	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:146157135C>T	ENST00000276816.4	-	4	1224	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	ZNF16_ENST00000394909.2_Silent_p.E346E	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CATACGGTTTCTCCCCAGAAT	0.488000													15	81					0	0	0.004007	0	0
LDB2	9079	broad.mit.edu	37	4	16590367	16590367	+	Missense_Mutation	SNP	C	C	A	rs142034467		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:16590367C>A	ENST00000502640.1	-	4	645	c.497G>T	c.(496-498)cGa>cTa	p.R166L	LDB2_ENST00000304523.5_Missense_Mutation_p.R166L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.R42L|LDB2_ENST00000515064.1_Missense_Mutation_p.R166L|LDB2_ENST00000441778.2_Missense_Mutation_p.R166L			O43679	LDB2_HUMAN	LIM domain binding 2	166							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GACTAACTCTCGGTATTGTCT	0.393000													26	71					7.26314e-15	7.74951e-15	0.007291	1	0
KCTD13	253980	broad.mit.edu	37	16	29934634	29934634	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:29934634G>C	ENST00000568000.1	-	2	1292	c.291C>G	c.(289-291)ctC>ctG	p.L97L	KCTD13_ENST00000561540.1_Silent_p.L97L|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	97	BTB.				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GCAGGTAATTGAGGATTGTAC	0.612000													8	45					0	0	0.003080	0	0
FERMT3	83706	broad.mit.edu	37	11	63974990	63974990	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:63974990C>G	ENST00000279227.5	+	2	249	c.154C>G	c.(154-156)Cag>Gag	p.Q52E	FERMT3_ENST00000345728.5_Missense_Mutation_p.Q52E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	52					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GATTGTGGAGCAGATCAGTGA	0.667000													11	61					0	0	0.008291	0	0
TRAV3	28690	broad.mit.edu	37	14	22192180	22192180	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:22192180G>A	ENST00000390425.2	+	0	221																											TCTTCACATTGAGTGAGTAAT	0.542000													9	246					0	0	0.008291	0	0
EFNB1	1947	broad.mit.edu	37	X	68058466	68058466	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:68058466G>A	ENST00000204961.4	+	2	915	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	45					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GCAGGTTCCTGAGTGGGAAGG	0.592000													17	11					0	0	0.006122	0	0
ZNF629	23361	broad.mit.edu	37	16	30793399	30793399	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30793399C>A	ENST00000262525.4	-	3	2457	c.2250G>T	c.(2248-2250)aaG>aaT	p.K750N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGAAGAGCTCTTCCCCAGCT	0.617000													36	100					6.05902e-23	6.53281e-23	0.003755	1	0
GPATCH11	253635	broad.mit.edu	37	2	37319076	37319076	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:37319076C>T	ENST00000409774.1	+	5	479	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	GPATCH11_ENST00000281932.5_Missense_Mutation_p.H9Y	NM_174931.2	NP_777591.2			G patch domain containing 11																		TGGCATTGGTCATGAGGCATC	0.348000													9	36					0	0	0.006214	0	0
POLR1B	84172	broad.mit.edu	37	2	113322029	113322029	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:113322029G>C	ENST00000263331.5	+	10	2279	c.1699G>C	c.(1699-1701)Gat>Cat	p.D567H	POLR1B_ENST00000537335.1_Missense_Mutation_p.D356H|POLR1B_ENST00000417433.2_Missense_Mutation_p.D511H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D605H|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	567					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGCTGGGTGGATAAGGATCT	0.507000													42	212					0	0	0.010771	0	0
PRKDC	5591	broad.mit.edu	37	8	48777319	48777319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48777319G>T	ENST00000314191.2	-	42	5422	c.5366C>A	c.(5365-5367)tCa>tAa	p.S1789*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1789*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1790					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGTGACACATGAACCCCTAAG	0.443000								Non-homologous end-joining					3	14					6.4e-05	6.54608e-05	0.004672	1	0
CTSD	1509	broad.mit.edu	37	11	1774844	1774844	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:1774844C>T	ENST00000236671.2	-	9	1260	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	RP11-295K3.1_ENST00000427721.1_Intron	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	376					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	p.P376P(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCTGGGTGGCGGGATGTCCA	0.657000													15	71					0	0	0.007413	0	0
DEPDC4	120863	broad.mit.edu	37	12	100657450	100657450	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:100657450G>C	ENST00000416321.1	-	2	381	c.379C>G	c.(379-381)Cta>Gta	p.L127V		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	127	DEP.				intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TGATTCATTAGAACTTGGCAA	0.358000													31	71					0	0	0.012213	0	0
RBM4B	83759	broad.mit.edu	37	11	66436492	66436492	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:66436492G>C	ENST00000525754.1	-	2	1351	c.683C>G	c.(682-684)tCt>tGt	p.S228C	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.S228C|RBM4B_ENST00000524637.1_3'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	228	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCCTCATAAGAGCGGACCCG	0.537000													3	76					0	0	0.004672	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717417	2717417	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:2717417C>T	ENST00000323469.4	-	2	571	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V130M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	130					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGTGTCCACCTCCCGCTGC	0.617000													15	32					0	0	0.004007	0	0
MST1R	4486	broad.mit.edu	37	3	49936568	49936568	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49936568C>T	ENST00000296474.3	-	2	1386	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V	MST1R_ENST00000344206.4_Silent_p.V453V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	453	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)		CAAGGCGTGTCACATACAATG	0.577000													43	97					0	0	0.013114	0	0
COL7A1	1294	broad.mit.edu	37	3	48625737	48625737	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48625737G>A	ENST00000328333.8	-	20	2795	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	COL7A1_ENST00000454817.1_Silent_p.F896F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	896	Fibronectin type-III 8.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGCAGAAGGAAGCCCTGCG	0.682000													17	42					0	0	0.008871	0	0
MYH7	4625	broad.mit.edu	37	14	23884362	23884362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:23884362C>A	ENST00000355349.3	-	37	5563	c.5401G>T	c.(5401-5403)Gag>Tag	p.E1801*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1801					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCGATCTGCTCGGCTTCGTCC	0.622000													15	103					1.3612e-06	1.41447e-06	0.003163	1	0
RHBDF2	79651	broad.mit.edu	37	17	74475233	74475233	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74475233C>T	ENST00000591885.1	-	5	949	c.399G>A	c.(397-399)ctG>ctA	p.L133L	RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000389760.4_Silent_p.L133L|RHBDF2_ENST00000313080.4_Silent_p.L162L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	162					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGGGAGCTCCAGGTCACGCT	0.692000													11	77					0	0	0.010729	0	0
CCDC147	159686	broad.mit.edu	37	10	106152107	106152107	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:106152107G>C	ENST00000369704.3	+	10	1616	c.1482G>C	c.(1480-1482)gtG>gtC	p.V494V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	494										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ATGAAGCTGTGAGATCAGACA	0.299000													22	117					0	0	0.003330	0	0
CROCC	9696	broad.mit.edu	37	1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	rs141704732		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572000													6	18					0	0	0.003080	0	0
SIK3	23387	broad.mit.edu	37	11	116730297	116730297	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:116730297G>C	ENST00000375300.1	-	19	2310	c.2305C>G	c.(2305-2307)Caa>Gaa	p.Q769E	SIK3_ENST00000375288.1_Missense_Mutation_p.Q106E|SIK3_ENST00000446921.2_Missense_Mutation_p.Q769E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q610E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q711E|SIK3_ENST00000292055.4_Missense_Mutation_p.Q711E|SIK3_ENST00000488337.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	711	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGTAAGCCTTGAAACTGGGAA	0.537000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	64					0	0	0.003080	0	0
EXOC5	10640	broad.mit.edu	37	14	57699411	57699411	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:57699411G>C	ENST00000413566.2	-	10	1271	c.912C>G	c.(910-912)ctC>ctG	p.L304L	EXOC5_ENST00000340918.7_Silent_p.L239L	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	304					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						AGAGATTTTTGAGATATTGCT	0.254000													3	55					0	0	0.004672	0	0
ABR	29	broad.mit.edu	37	17	960284	960284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:960284G>C	ENST00000544583.2	-	13	1901	c.1302C>G	c.(1300-1302)ttC>ttG	p.F434L	ABR_ENST00000302538.5_Missense_Mutation_p.F480L|ABR_ENST00000536794.2_Missense_Mutation_p.F262L|ABR_ENST00000574437.1_Missense_Mutation_p.F434L|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Missense_Mutation_p.F443L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	480	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCTAAGCTTGAAACAGGATC	0.582000													82	118					0	0	0.014410	0	0
SPDYA	245711	broad.mit.edu	37	2	29063067	29063067	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29063067C>T	ENST00000334056.5	+	7	771	c.582C>T	c.(580-582)atC>atT	p.I194I	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.I194I	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	194	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCCATTATATCTGGCAAAGAG	0.378000													7	37					0	0	0.004482	0	0
EPHA2	1969	broad.mit.edu	37	1	16475323	16475323	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16475323C>T	ENST00000358432.5	-	3	527	c.373G>A	c.(373-375)Gag>Aag	p.E125K	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	125					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGTCCGACTCGGCATAGTAG	0.547000													31	60					0	0	0.009535	0	0
TMEM71	137835	broad.mit.edu	37	8	133740154	133740154	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:133740154G>A	ENST00000356838.3	-	6	651	c.509C>T	c.(508-510)tCt>tTt	p.S170F	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.S189F	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	189						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTGGCTGGAAGAGGAGGTGAT	0.478000													16	144					0	0	0.007413	0	0
IRF6	3664	broad.mit.edu	37	1	209969798	209969798	+	Missense_Mutation	SNP	C	C	G	rs121434224		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:209969798C>G	ENST00000367021.3	-	4	446	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	92					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E92K(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGTTGAATTCTCTGCTCTTA	0.532000										HNSCC(57;0.16)			21	41					0	0	0.010504	0	0
MST1R	4486	broad.mit.edu	37	3	49935953	49935953	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49935953C>T	ENST00000296474.3	-	4	1744	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	MST1R_ENST00000344206.4_Missense_Mutation_p.E573K	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	573	IPT/TIG 1.				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)		AGCCATACCTCAGTAAGCTTA	0.582000													17	40					0	0	0.007413	0	0
COL6A6	131873	broad.mit.edu	37	3	130300643	130300643	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:130300643G>C	ENST00000358511.6	+	8	3817	c.3786G>C	c.(3784-3786)ctG>ctC	p.L1262L	COL6A6_ENST00000453409.2_Silent_p.L1262L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1262	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAAACATACTGAATAGCTTGA	0.413000													61	164					0	0	0.014410	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95434085	95434085	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:95434085A>G	ENST00000324972.6	+	2	237	c.44A>G	c.(43-45)aAg>aGg	p.K15R	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.K15R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.K15R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.K15R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	15	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GAGCGCAAAAAGCAGCGCTTA	0.393000													3	5					0	0	0.004672	0	0
SUSD1	64420	broad.mit.edu	37	9	114875121	114875121	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:114875121G>C	ENST00000374270.3	-	7	1086	c.914C>G	c.(913-915)tCa>tGa	p.S305*	SUSD1_ENST00000374263.3_Nonsense_Mutation_p.S305*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.S305*	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	305						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ATTAAACAGTGATACATCATT	0.343000													23	52					0	0	0.003954	0	0
TBC1D24	57465	broad.mit.edu	37	16	2547031	2547031	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:2547031C>T	ENST00000567020.1	+	2	1022	c.882C>T	c.(880-882)ctC>ctT	p.L294L	TBC1D24_ENST00000293970.5_Silent_p.L294L|TBC1D24_ENST00000434757.2_Silent_p.L294L|RP11-20I23.1_ENST00000564543.1_Silent_p.L294L	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	294					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CCATCCGCCTCTTCTCCCGCA	0.597000													21	51					0	0	0.012319	0	0
GSK3A	2931	broad.mit.edu	37	19	42737444	42737444	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:42737444G>A	ENST00000398249.4	-	6	2463	c.750C>T	c.(748-750)atC>atT	p.I250I	GSK3A_ENST00000222330.3_Silent_p.I332I			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	332	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TCACCTTGATGATCTCCACCA	0.642000													4	10					0	0	0.001984	0	0
C5orf51	285636	broad.mit.edu	37	5	41911231	41911231	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:41911231C>G	ENST00000381647.2	+	4	455	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	146										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTGTCATTCTCTTACCAAAAG	0.388000													16	44					0	0	0.004007	0	0
MSL1	339287	broad.mit.edu	37	17	38285648	38285648	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38285648G>C	ENST00000398532.3	+	3	1458	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	MSL1_ENST00000579565.1_Missense_Mutation_p.L118F|MSL1_ENST00000578648.1_Missense_Mutation_p.L381F|MSL1_ENST00000577454.1_Missense_Mutation_p.L381F			Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	381					histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						AACGTGAATTGAGGAGCCAAG	0.473000													19	109					0	0	0.008871	0	0
SUN2	25777	broad.mit.edu	37	22	39138314	39138314	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:39138314G>A	ENST00000405510.1	-	10	1418	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	SUN2_ENST00000216064.4_Missense_Mutation_p.R354C|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R343C|SUN2_ENST00000406622.1_Missense_Mutation_p.R354C|SUN2_ENST00000405018.1_Missense_Mutation_p.R375C	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	354					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						ACCTGGATGCGAGCAGCAGTT	0.607000													9	43					0	0	0.006214	0	0
MANBA	4126	broad.mit.edu	37	4	103585971	103585971	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:103585971C>T	ENST00000226578.4	-	11	1455	c.1356G>A	c.(1354-1356)tgG>tgA	p.W452*	MANBA_ENST00000505239.1_Nonsense_Mutation_p.W395*	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	452					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TATTGCCACTCCATATGATGA	0.343000													24	73					0	0	0.005443	0	0
KLHL28	54813	broad.mit.edu	37	14	45414609	45414609	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:45414609C>G	ENST00000396128.4	-	2	642	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	KLHL28_ENST00000355081.2_Missense_Mutation_p.E189Q	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	175										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTGTAAGCTCAAAAAACTCT	0.383000													4	103					0	0	0.001168	0	0
SPRTN	83932	broad.mit.edu	37	1	231489093	231489093	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:231489093G>A	ENST00000295050.7	+	5	1792	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K		NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3			SprT-like N-terminal domain																		AGTCAAAAGCGAAGAAAGTCT	0.403000													4	34					0	0	0.000602	0	0
LPO	4025	broad.mit.edu	37	17	56342211	56342211	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56342211C>G	ENST00000262290.4	+	10	1711	c.1395C>G	c.(1393-1395)cgC>cgG	p.R465R	LPO_ENST00000421678.2_Silent_p.R382R|LPO_ENST00000582328.1_Silent_p.R382R|LPO_ENST00000543544.1_Silent_p.R406R	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	465					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCGCCTTCCGCTTTGGCCACT	0.517000													15	103					0	0	0.004990	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149784945	149784945	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:149784945C>T	ENST00000331491.1	-	1	291	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	98					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGGTAGGCCTCGCTGGCCTCC	0.642000													14	50					0	0	0.008871	0	0
KYNU	8942	broad.mit.edu	37	2	143790866	143790866	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:143790866C>G	ENST00000264170.4	+	12	1275	c.1017C>G	c.(1015-1017)gtC>gtG	p.V339V	KYNU_ENST00000409512.1_Silent_p.V339V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	339					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTTTGTTGGTCTGTTCCTTGC	0.378000													10	179					0	0	0.010729	0	0
SOAT1	6646	broad.mit.edu	37	1	179311320	179311320	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:179311320G>C	ENST00000367619.3	+	8	995	c.852G>C	c.(850-852)gaG>gaC	p.E284D	SOAT1_ENST00000540564.1_Missense_Mutation_p.E226D|SOAT1_ENST00000539888.1_Missense_Mutation_p.E219D|SOAT1_ENST00000535686.1_Missense_Mutation_p.E20D	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	284					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CAGCTAAGGAGAAATCAAGTA	0.448000													9	40					0	0	0.004482	0	0
SGIP1	84251	broad.mit.edu	37	1	67155939	67155939	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67155939G>A	ENST00000371037.4	+	17	1587	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	SGIP1_ENST00000371035.3_Missense_Mutation_p.E294K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E304K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E305K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E535K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	504					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCGCGGGCTGAAAGCACTTC	0.453000													55	140					0	0	0.014410	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426360	1426360	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:1426360G>A	ENST00000216879.4	-	8	1768	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	NSFL1C_ENST00000350991.4_Missense_Mutation_p.R303W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R270W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R190W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R303W	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	301	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.R301W(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGCAAGCCGAATTTGGATG	0.517000													26	258					0	0	0.010818	0	0
KCNQ2	3785	broad.mit.edu	37	20	62038284	62038284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:62038284C>A	ENST00000354587.3	-	17	2532	c.2356G>T	c.(2356-2358)Gag>Tag	p.E786*	KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.E774*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.E750*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.E760*|KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.E778*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.E747*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.E786*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.E748*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.E778*			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	778					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGGTTCCCCTCGGGGGGCCTG	0.701000													4	10					5.9392e-07	6.18954e-07	0.001168	1	0
CNTRL	11064	broad.mit.edu	37	9	123924347	123924347	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:123924347G>C	ENST00000373855.1	+	34	5481	c.5221G>C	c.(5221-5223)Gag>Cag	p.E1741Q	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1741Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1189Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1741					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACTGGAGTTAGAGAATTTGCA	0.413000													20	70					0	0	0.014323	0	0
SIX3	6496	broad.mit.edu	37	2	45169453	45169453	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:45169453C>T	ENST00000260653.3	+	1	552	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	70					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gcggcggcTCCAGGGCCCCCC	0.771000													4	9					0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			30	29					0	0	0.010818	0	0
APOB	338	broad.mit.edu	37	2	21226113	21226113	+	Missense_Mutation	SNP	C	C	T	rs121918385		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:21226113C>T	ENST00000233242.1	-	29	12308	c.12181G>A	c.(12181-12183)Gag>Aag	p.E4061K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4061					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGCTGCCTCTTCTTCCCAA	0.453000													107	295					0	0	0.014410	0	0
ATRN	8455	broad.mit.edu	37	20	3529964	3529964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:3529964C>G	ENST00000262919.5	+	6	1159	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ATRN_ENST00000446916.2_Nonsense_Mutation_p.S364*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	364					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTCAACCACTCAGATTATAAC	0.333000													21	99					0	0	0.012319	0	0
CUL1	8454	broad.mit.edu	37	7	148495716	148495716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148495716G>T	ENST00000325222.4	+	20	2362	c.2083G>T	c.(2083-2085)Gaa>Taa	p.E695*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.E695*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E695*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	695					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACAGAAGCAGGAACAAGAAAC	0.418000													14	72					1.15088e-07	1.20289e-07	0.004007	1	0
PARM1	25849	broad.mit.edu	37	4	75938051	75938051	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:75938051C>G	ENST00000307428.7	+	2	672	c.460C>G	c.(460-462)Cca>Gca	p.P154A	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	154					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCAAGCTCCAGCCTCATC	0.587000													59	204					0	0	0.014410	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457124	6457124	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6457124G>A	ENST00000358945.3	-	13	2431	c.1991C>T	c.(1990-1992)cCt>cTt	p.P664L	SCNN1A_ENST00000228916.2_Missense_Mutation_p.P642L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P342L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P665L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P701L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	642					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ggcataggcagggggaggggc	0.687000													4	9					0	0	0.009096	0	0
AATK	9625	broad.mit.edu	37	17	79094803	79094803	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:79094803C>T	ENST00000326724.4	-	11	2957	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	AATK_ENST00000417379.1_Missense_Mutation_p.R875Q	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGTGGAGAGCCGTGTCTCGGG	0.652000													4	24					0	0	0.009096	0	0
NET1	10276	broad.mit.edu	37	10	5495245	5495245	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:5495245C>T	ENST00000355029.4	+	7	769	c.627C>T	c.(625-627)atC>atT	p.I209I	NET1_ENST00000380359.3_Silent_p.I155I|NET1_ENST00000542715.1_Silent_p.I28I	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	209	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGTTGTCCATCATGTCAGAAG	0.408000													49	164					0	0	0.014410	0	0
BAD	572	broad.mit.edu	37	11	64037600	64037600	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64037600G>C	ENST00000544785.1	-	2	397	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	0					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GCATAGGCCTGAGGGAAGTAC	0.602000													5	20					0	0	0.001168	0	0
PCLO	27445	broad.mit.edu	37	7	82583504	82583504	+	Silent	SNP	A	A	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:82583504A>C	ENST00000423517.2	-	5	7102	c.6765T>G	c.(6763-6765)ggT>ggG	p.G2255G	PCLO_ENST00000333891.8_Silent_p.G2255G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2186					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						CACTAGCTCTACCATCTGGTG	0.393000													9	76					0	0	0.004482	0	0
REXO1	57455	broad.mit.edu	37	19	1818554	1818554	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1818554G>A	ENST00000170168.4	-	10	3037	c.2943C>T	c.(2941-2943)ctC>ctT	p.L981L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	981						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGGACACGAGGTACTCGG	0.672000													3	18					0	0	0.009096	0	0
GSG1	83445	broad.mit.edu	37	12	13243458	13243458	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:13243458C>T	ENST00000337630.6	-	2	371	c.304G>A	c.(304-306)Gag>Aag	p.E102K	GSG1_ENST00000537302.1_Missense_Mutation_p.E102K|GSG1_ENST00000351606.6_Missense_Mutation_p.E115K|GSG1_ENST00000396302.3_Missense_Mutation_p.E102K|GSG1_ENST00000396310.2_Missense_Mutation_p.E99K|GSG1_ENST00000324458.8_Missense_Mutation_p.E115K|GSG1_ENST00000457134.2_Missense_Mutation_p.E102K|GSG1_ENST00000432710.2_Missense_Mutation_p.E115K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	102						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACAGTTTCCTCACAGGATAGC	0.542000													21	53					0	0	0.012319	0	0
CADPS2	93664	broad.mit.edu	37	7	122261717	122261717	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:122261717C>G	ENST00000334010.7	-	5	1343	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	CADPS2_ENST00000313070.7_Missense_Mutation_p.E308Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E308Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.E308Q	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	308					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GACCGCAACTCTTCTATATAC	0.299000													9	48					0	0	0.008291	0	0
CRISP3	10321	broad.mit.edu	37	6	49698947	49698947	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:49698947C>T	ENST00000433368.2	-	7	677	c.608G>A	c.(607-609)aGa>aAa	p.R203K	CRISP3_ENST00000393666.1_Missense_Mutation_p.R180K|CRISP3_ENST00000423399.2_Missense_Mutation_p.R90K|CRISP3_ENST00000371159.4_Missense_Mutation_p.R211K|CRISP3_ENST00000263045.4_Missense_Mutation_p.R193K	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	180					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GACATATAGTCTATTAGCCCA	0.333000													17	54					0	0	0.007413	0	0
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:179481862C>G	ENST00000263966.3	+	18	2636	c.2165C>G	c.(2164-2166)tCt>tGt	p.S722C	USP13_ENST00000496897.1_Missense_Mutation_p.S657C	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	722					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502000													31	98					0	0	0.010818	0	0
FAM154B	283726	broad.mit.edu	37	15	82575272	82575272	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:82575272G>C	ENST00000339465.5	+	3	1135	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E341Q	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	356										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GTACTCTGTAGAGTACACACC	0.398000													11	59					0	0	0.001855	0	0
S100Z	170591	broad.mit.edu	37	5	76171314	76171314	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:76171314G>A	ENST00000317593.4	+	3	362	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	S100Z_ENST00000513010.1_Missense_Mutation_p.E44K	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	44	EF-hand 1.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		AGAGCTCACGGAATTCCTCTC	0.493000													32	111					0	0	0.004878	0	0
C2orf71	388939	broad.mit.edu	37	2	29294902	29294902	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:29294902C>T	ENST00000331664.5	-	1	2225	c.2226G>A	c.(2224-2226)gaG>gaA	p.E742E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	742					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTCAGACTCTCCGTGGGAC	0.562000													27	65					0	0	0.005443	0	0
LRRC7	57554	broad.mit.edu	37	1	70505167	70505167	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:70505167G>C	ENST00000310961.5	+	22	3979	c.3561G>C	c.(3559-3561)gtG>gtC	p.V1187V	LRRC7_ENST00000415775.2_Silent_p.V466V|LRRC7_ENST00000035383.5_Silent_p.V1182V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1182						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATCAAGAAGTGAAAGCTCAGG	0.502000													15	53					0	0	0.004990	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74394602	74394602	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:74394602G>A	ENST00000429810.2	-	0	363																											AAGTGCCCGTGATTCCACCTC	0.577000													14	144					0	0	0.003163	0	0
KIF23	9493	broad.mit.edu	37	15	69733362	69733362	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:69733362G>C	ENST00000260363.4	+	18	2440	c.2323G>C	c.(2323-2325)Gag>Cag	p.E775Q	KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.E775Q|KIF23_ENST00000558585.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	775					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGAAGGCAGGGAGGTGGTTCC	0.448000													5	42					0	0	0.001168	0	0
SPATA6L	55064	broad.mit.edu	37	9	4605410	4605410	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:4605410C>T	ENST00000381890.5	-	9	941	c.845G>A	c.(844-846)aGa>aAa	p.R282K	SPATA6L_ENST00000454239.2_Silent_p.K342K|SPATA6L_ENST00000381895.5_Silent_p.K219K|SPATA6L_ENST00000475086.1_Silent_p.K284K			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	0																	CATGGATATTCTTCCATGTGG	0.433000													20	79					0	0	0.012319	0	0
BIN2	51411	broad.mit.edu	37	12	51685669	51685669	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:51685669G>C	ENST00000267012.4	-	10	1282	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	BIN2_ENST00000452142.2_Missense_Mutation_p.I375M|BIN2_ENST00000544402.1_Missense_Mutation_p.I381M|BIN2_ENST00000604560.1_Missense_Mutation_p.I380M	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	407						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGGTCCTCTGGATAGAGGCTC	0.587000													29	93					0	0	0.009535	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178699	90178699	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:90178699G>C	ENST00000370454.4	+	3	825	c.570G>C	c.(568-570)aaG>aaC	p.K190N	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	190						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ACAACAGGAAGAACAACATGA	0.453000													17	78					0	0	0.004007	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764372	140764372	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140764372G>C	ENST00000518325.1	+	1	1906	c.1906G>C	c.(1906-1908)Gat>Cat	p.D636H	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGACAGAGATGCCCTCAA	0.652000													16	46					0	0	0.003163	0	0
LRP2	4036	broad.mit.edu	37	2	170115654	170115654	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:170115654G>T	ENST00000263816.3	-	17	2679	c.2394C>A	c.(2392-2394)ctC>ctA	p.L798L	LRP2_ENST00000443831.1_Silent_p.L661L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	798					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTGTCCAATAGAGATTCTTTG	0.378000													38	66					2.05212e-20	2.20595e-20	0.005524	1	0
PDE2A	5138	broad.mit.edu	37	11	72290599	72290599	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:72290599G>T	ENST00000334456.5	-	26	2480	c.2235C>A	c.(2233-2235)atC>atA	p.I745I	PDE2A_ENST00000540345.1_Silent_p.I736I|PDE2A_ENST00000444035.2_Silent_p.I736I|PDE2A_ENST00000418754.2_Silent_p.I630I|PDE2A_ENST00000376450.3_Silent_p.I489I|PDE2A_ENST00000544570.1_Silent_p.I738I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	745	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AATGATCAAAGATGTTGCAGC	0.632000													14	70					4.7546e-09	4.98399e-09	0.004007	1	0
PPBPP2	10895	broad.mit.edu	37	4	74919850	74919850	+	RNA	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:74919850C>T	ENST00000513150.1	-	0	1266					NR_026769.1																						CAGAGTGGCTCTGCAAGAGAG	0.428000													4	25					0	0	0.000602	0	0
BSN	8927	broad.mit.edu	37	3	49692476	49692476	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:49692476C>G	ENST00000296452.4	+	5	5601	c.5487C>G	c.(5485-5487)ctC>ctG	p.L1829L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1829					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCATTGGCCTCAAGCCAGGCC	0.612000													6	96					0	0	0.003080	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43517535	43517535	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:43517535G>A	ENST00000430334.3	-	10	3028	c.2895C>T	c.(2893-2895)ctC>ctT	p.L965L	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L876L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	965					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TTACCTGTTGGAGGTCAGCAA	0.473000													16	105					0	0	0.003163	0	0
HGF	3082	broad.mit.edu	37	7	81334827	81334827	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:81334827C>G	ENST00000222390.5	-	17	2115	c.1889G>C	c.(1888-1890)cGa>cCa	p.R630P	HGF_ENST00000457544.2_Missense_Mutation_p.R625P	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	630	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTGCCACTCGTAATAGGCC	0.368000													8	53					0	0	0.003080	0	0
COL15A1	1306	broad.mit.edu	37	9	101763192	101763192	+	Missense_Mutation	SNP	G	G	C	rs137949756		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101763192G>C	ENST00000375001.3	+	7	1447	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	342	Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.G342S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACTGACAGCGGCTCAGGGGC	0.468000											OREG0019364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	54					0	0	0.008871	0	0
VWF	7450	broad.mit.edu	37	12	6103292	6103292	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103292G>A	ENST00000261405.5	-	37	6588	c.6334C>T	c.(6334-6336)Cag>Tag	p.Q2112*		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2112	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTCCATTCCTGAACAAGTGTT	0.542000													12	51					0	0	0.002450	0	0
DCTN2	10540	broad.mit.edu	37	12	57924487	57924487	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:57924487C>T	ENST00000548249.1	-	14	1458	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	DCTN2_ENST00000434715.3_Silent_p.K402K|DCTN2_ENST00000543672.1_Silent_p.K402K|DCTN2_ENST00000537439.1_Silent_p.K374K	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	397					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TTCCCAGCTTCTTCATCCGTT	0.473000													11	143					0	0	0.010729	0	0
BCR	613	broad.mit.edu	37	22	23523385	23523385	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:23523385G>A	ENST00000305877.8	+	1	989	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	BCR_ENST00000359540.3_Missense_Mutation_p.A80T|BCR_ENST00000398512.5_Missense_Mutation_p.A80T	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	80	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTTCCGGCGCGCGGCGCAGGC	0.736000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								3	4					0	0	0.004672	0	0
MXD4	10608	broad.mit.edu	37	4	2259719	2259719	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:2259719C>G	ENST00000337190.2	-	3	497	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	MXD4_ENST00000515378.1_5'UTR	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	62					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CTGTGCTTTTCTAGCTCGTTG	0.582000													13	47					0	0	0.003163	0	0
ARPP21	10777	broad.mit.edu	37	3	35778790	35778790	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:35778790C>A	ENST00000187397.4	+	16	2036	c.1580C>A	c.(1579-1581)tCc>tAc	p.S527Y	ARPP21_ENST00000417925.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.S473Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S473Y	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	527	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCCCTCCCCGCAGCCC	0.642000													21	41					5.45024e-15	5.82388e-15	0.003330	1	0
USO1	8615	broad.mit.edu	37	4	76703974	76703974	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:76703974C>G	ENST00000538159.1	+	9	824	c.824C>G	c.(823-825)tCt>tGt	p.S275C	USO1_ENST00000514213.2_Missense_Mutation_p.S258C			O60763	USO1_HUMAN	USO1 vesicle transport factor	273	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGCTGGTCTGCACAGAAA	0.328000													5	30					0	0	0.000602	0	0
RNF43	54894	broad.mit.edu	37	17	56440747	56440747	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:56440747C>T	ENST00000584437.1	-	4	2426	c.471G>A	c.(469-471)ctG>ctA	p.L157L	RNF43_ENST00000583753.1_Silent_p.L116L|RNF43_ENST00000500597.2_Silent_p.L116L|RNF43_ENST00000577625.1_Silent_p.L30L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.L30L|RNF43_ENST00000577716.1_Silent_p.L157L|RNF43_ENST00000407977.2_Silent_p.L157L			Q68DV7	RNF43_HUMAN	ring finger protein 43	157						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGCCAGGTCAGCCCCAGCG	0.567000													17	165					0	0	0.010504	0	0
CFLAR	8837	broad.mit.edu	37	2	202025553	202025553	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202025553G>A	ENST00000309955.2	+	9	1707	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.E363K|CFLAR_ENST00000479953.2_Missense_Mutation_p.E302K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E398K|CFLAR_ENST00000457277.1_Missense_Mutation_p.E398K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E398K|CFLAR_ENST00000443227.1_Missense_Mutation_p.E302K	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	398	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AGTTCACCGAGAAGCTGACTT	0.577000													15	33					0	0	0.003163	0	0
C8G	733	broad.mit.edu	37	9	139840549	139840549	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:139840549G>A	ENST00000224181.3	+	4	419	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	120					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CGAGACGCCCGAGGGGCTGTG	0.642000													16	23					0	0	0.012319	0	0
UBR4	23352	broad.mit.edu	37	1	19407997	19407997	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19407997C>G	ENST00000375267.2	-	103	15082	c.15079G>C	c.(15079-15081)Gag>Cag	p.E5027Q	UBR4_ENST00000429347.2_Missense_Mutation_p.E550Q|UBR4_ENST00000543981.1_Missense_Mutation_p.E691Q|UBR4_ENST00000375224.1_Missense_Mutation_p.E734Q|UBR4_ENST00000375254.3_Missense_Mutation_p.E5027Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E5003Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E5020Q|UBR4_ENST00000375225.3_Missense_Mutation_p.E102Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5027					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGGCACTCTCCACCCACTTC	0.517000													92	195					0	0	0.014410	0	0
FEM1C	56929	broad.mit.edu	37	5	114860317	114860317	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:114860317C>T	ENST00000274457.3	-	3	2103	c.1542G>A	c.(1540-1542)ctG>ctA	p.L514L		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	514						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CACATTCTATCAGTATTGCAG	0.443000													5	222					0	0	0.000602	0	0
SPOCK1	6695	broad.mit.edu	37	5	136403477	136403477	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136403477G>A	ENST00000394945.1	-	6	685	c.516C>T	c.(514-516)ctC>ctT	p.L172L	SPOCK1_ENST00000282223.7_Silent_p.L172L	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	172	Kazal-like.				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.L172L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGGGTGGCGAGGCTTTTGC	0.527000													48	159					0	0	0.014410	0	0
PCDH15	65217	broad.mit.edu	37	10	55782797	55782797	+	Missense_Mutation	SNP	C	C	G	rs146468805		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:55782797C>G	ENST00000373965.2	-	20	2796	c.2402G>C	c.(2401-2403)gGa>gCa	p.G801A	PCDH15_ENST00000395445.1_Missense_Mutation_p.G801A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G723A|PCDH15_ENST00000414778.1_Missense_Mutation_p.G799A|PCDH15_ENST00000373955.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395438.1_Missense_Mutation_p.G794A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G405A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G772A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G757A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G794A|PCDH15_ENST00000320301.6_Missense_Mutation_p.G794A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	794	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGTACTGCTCCATCTGTTGC	0.423000										HNSCC(58;0.16)			27	99					0	0	0.006320	0	0
ZNF280B	140883	broad.mit.edu	37	22	22843165	22843165	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:22843165T>C	ENST00000360412.2	-	4	1334	c.559A>G	c.(559-561)Agg>Ggg	p.R187G	ZNF280B_ENST00000406426.1_Missense_Mutation_p.R187G	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R187G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGTTTAGCCCTTTTGGGATTT	0.388000													4	189					0	0	0.009096	0	0
PAIP1	10605	broad.mit.edu	37	5	43535702	43535702	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:43535702C>T	ENST00000306846.3	-	7	1245	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	PAIP1_ENST00000436644.2_Missense_Mutation_p.G259E|PAIP1_ENST00000514514.1_Missense_Mutation_p.G259E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G226E	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	338	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATCCATCTTTCCTTTTTCCTT	0.328000													15	46					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179428814	179428814	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:179428814G>C	ENST00000589042.1	-	326	82269	c.82045C>G	c.(82045-82047)Ctg>Gtg	p.L27349V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L25708V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18409V|TTN_ENST00000342175.6_Missense_Mutation_p.L18476V|TTN_ENST00000460472.2_Missense_Mutation_p.L18284V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L24781V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25708	Fibronectin type-III 99.						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)			CTGAGTTTCAGAATATATTGT	0.413000													29	173					0	0	0.007291	0	0
TRMT1	55621	broad.mit.edu	37	19	13226280	13226280	+	Splice_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:13226280C>T	ENST00000592062.1	-	6	1024	c.453_splice	c.e6-1	p.E152_splice	TRMT1_ENST00000357720.4_Splice_Site_p.E152_splice|TRMT1_ENST00000437766.1_Splice_Site_p.E152_splice|TRMT1_ENST00000221504.8_Splice_Site_p.E152_splice			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	152							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TGCAGGCCTTCCTGTTGGAGT	0.587000													8	29					0	0	0.006214	0	0
NTRK2	4915	broad.mit.edu	37	9	87482318	87482318	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:87482318C>T	ENST00000304053.6	+	14	2088	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	NTRK2_ENST00000323115.4_Silent_p.I519I|NTRK2_ENST00000376213.1_Silent_p.I519I|NTRK2_ENST00000376214.1_Silent_p.I535I|NTRK2_ENST00000277120.3_Silent_p.I535I|NTRK2_ENST00000376208.1_Silent_p.I519I	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	519					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACTTTGGCATCACCAACAGTC	0.453000										TSP Lung(25;0.17)			35	93					0	0	0.004289	0	0
RTKN	6242	broad.mit.edu	37	2	74657432	74657432	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:74657432C>T	ENST00000305557.5	-	6	1038	c.453G>A	c.(451-453)atG>atA	p.M151I	RTKN_ENST00000233330.6_Missense_Mutation_p.M114I|RTKN_ENST00000272430.5_Missense_Mutation_p.M164I	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	164					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CCACTAGGATCATCTCTGTGT	0.547000													7	36					0	0	0.001984	0	0
LCMT2	9836	broad.mit.edu	37	15	43620956	43620956	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43620956C>T	ENST00000305641.5	-	1	1847	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.D157N	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	578					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GGCTGGATGTCTACTGACTCC	0.517000													35	81					0	0	0.005524	0	0
BSDC1	55108	broad.mit.edu	37	1	32841914	32841914	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:32841914C>G	ENST00000341071.7	-	9	1167	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	BSDC1_ENST00000455895.2_Missense_Mutation_p.E369Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E386Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.E274Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E313Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.E369Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E308Q			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	369							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGTTCAGCTCAAACACCCGT	0.617000													47	121					0	0	0.014410	0	0
PUS7	54517	broad.mit.edu	37	7	105146708	105146708	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:105146708G>A	ENST00000356362.2	-	3	625	c.411C>T	c.(409-411)ttC>ttT	p.F137F	PUS7_ENST00000469408.1_Silent_p.F137F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	137					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CATGAACAACGAAGTCGGAGT	0.363000													7	34					0	0	0.001984	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													3	82					0	0	0.001168	0	0
USP31	57478	broad.mit.edu	37	16	23113736	23113736	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:23113736C>G	ENST00000219689.7	-	6	1137	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	380					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCGTCTGTATCACAAAAGGAA	0.383000													29	70					0	0	0.008361	0	0
TMTC3	160418	broad.mit.edu	37	12	88547232	88547232	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:88547232G>C	ENST00000266712.6	+	3	574	c.354G>C	c.(352-354)aaG>aaC	p.K118N		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	118						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGGACAACAAGAGTAGTGTGA	0.328000													19	67					0	0	0.008871	0	0
PDZD2	23037	broad.mit.edu	37	5	32091009	32091009	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:32091009G>C	ENST00000438447.1	+	20	7843	c.7455G>C	c.(7453-7455)ctG>ctC	p.L2485L	PDZD2_ENST00000282493.3_Silent_p.L2485L			O15018	PDZD2_HUMAN	PDZ domain containing 2	2485					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCAGGAGCTGAGAGCCTTGA	0.607000													30	59					0	0	0.007291	0	0
WDR90	197335	broad.mit.edu	37	16	706411	706411	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:706411C>G	ENST00000549091.1	+	18	2168	c.2076C>G	c.(2074-2076)taC>taG	p.Y692*	WDR90_ENST00000293879.4_Nonsense_Mutation_p.Y692*	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	692										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCGGGTGTACCACATGCTGG	0.697000													5	19					0	0	0.001168	0	0
LMX1A	4009	broad.mit.edu	37	1	165322354	165322354	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:165322354G>A	ENST00000342310.3	-	3	604	c.222C>T	c.(220-222)ttC>ttT	p.F74F	LMX1A_ENST00000294816.2_Silent_p.F74F|LMX1A_ENST00000367893.4_Silent_p.F74F	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	74	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGTCCCGGTAGAAGCAGGTGG	0.602000													16	91					0	0	0.004990	0	0
UFD1L	7353	broad.mit.edu	37	22	19463117	19463117	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:19463117G>C	ENST00000263202.9	-	2	141	c.12C>G	c.(10-12)ttC>ttG	p.F4L	UFD1L_ENST00000399523.1_Missense_Mutation_p.F4L|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.F4L	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	4					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CGAACATGTTGAAAGAGAACT	0.423000													14	61					0	0	0.001855	0	0
WDR77	79084	broad.mit.edu	37	1	111990152	111990152	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:111990152G>A	ENST00000235090.5	-	3	554	c.348C>T	c.(346-348)gtC>gtT	p.V116V	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	116					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGAACTTGCTGACAATAAGTG	0.453000													11	40					0	0	0.010729	0	0
C2orf62	375307	broad.mit.edu	37	2	219222441	219222441	+	Silent	SNP	C	C	T	rs150544491		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:219222441C>T	ENST00000289388.3	+	3	332	c.303C>T	c.(301-303)tgC>tgT	p.C101C	C2orf62_ENST00000481940.1_3'UTR|AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	101										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATGCTCTGCGGAAATTCCC	0.527000													22	69					0	0	0.002780	0	0
DCHS1	8642	broad.mit.edu	37	11	6662141	6662141	+	Missense_Mutation	SNP	C	C	T	rs143767864	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:6662141C>T	ENST00000299441.3	-	2	1115	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGA	0.587000													10	145					0	0	0.013537	0	0
ADAM15	8751	broad.mit.edu	37	1	155026830	155026830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155026830G>C	ENST00000356955.2	+	6	561	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	ADAM15_ENST00000447332.3_Missense_Mutation_p.E138Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.E154Q|ADAM15_ENST00000355956.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.E154Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000531455.1_Missense_Mutation_p.E164Q	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	154					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTATACCCTGGAGCAGGGGCC	0.547000													24	87					0	0	0.003330	0	0
TPRKB	51002	broad.mit.edu	37	2	73959362	73959362	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73959362G>C	ENST00000318190.7	-	4	429	c.309C>G	c.(307-309)ctC>ctG	p.L103L	TPRKB_ENST00000272424.5_Silent_p.L64L|TPRKB_ENST00000409716.2_Silent_p.L103L			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	64					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						CCAGTTTGTAGAGGTGAACTG	0.358000													23	52					0	0	0.012319	0	0
GCFC2	6936	broad.mit.edu	37	2	75929407	75929407	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:75929407C>G	ENST00000321027.3	-	3	670	c.537G>C	c.(535-537)gaG>gaC	p.E179D	GCFC2_ENST00000470503.1_Missense_Mutation_p.E179D|GCFC2_ENST00000541687.1_Missense_Mutation_p.E179D|GCFC2_ENST00000409857.3_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	179					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										CAGGCTCACTCTCAGGGTCAT	0.423000													40	120					0	0	0.009718	0	0
SLC27A6	28965	broad.mit.edu	37	5	128364098	128364098	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:128364098C>T	ENST00000262462.4	+	8	2525	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	SLC27A6_ENST00000395266.1_Silent_p.F505F|SLC27A6_ENST00000506176.1_Silent_p.F505F			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	505					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTTGGATTTCATACAGGAAG	0.343000													18	68					0	0	0.014323	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099284	4099284	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:4099284G>C	ENST00000262948.5	-	7	1087	c.834C>G	c.(832-834)atC>atG	p.I278M	MAP2K2_ENST00000394867.4_Missense_Mutation_p.I181M	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	278	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCCAAAGATGGCCTCCA	0.697000													3	13					0	0	0.004672	0	0
MKRN3	7681	broad.mit.edu	37	15	23811327	23811327	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:23811327C>T	ENST00000314520.3	+	1	874	c.398C>T	c.(397-399)tCg>tTg	p.S133L	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	133						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGTGGCGTTTCGCCGCCTGGG	0.627000													15	61					0	0	0.003163	0	0
WDR44	54521	broad.mit.edu	37	X	117530989	117530989	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:117530989G>C	ENST00000254029.3	+	7	1505	c.1110G>C	c.(1108-1110)ttG>ttC	p.L370F	WDR44_ENST00000371822.5_Missense_Mutation_p.L345F|WDR44_ENST00000371825.3_Missense_Mutation_p.L370F	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	370						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAATACCTTTGAGTCTTGCAG	0.363000													33	42					0	0	0.003755	0	0
EPPK1	83481	broad.mit.edu	37	8	144941431	144941431	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:144941431G>A	ENST00000525985.1	-	2	6062	c.5991C>T	c.(5989-5991)ctC>ctT	p.L1997L				P58107	EPIPL_HUMAN	epiplakin 1	1997						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTCGATGAGCTGCTTCT	0.647000													11	30					0	0	0.008291	0	0
NAA16	79612	broad.mit.edu	37	13	41894879	41894879	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:41894879C>G	ENST00000379406.3	+	4	645	c.321C>G	c.(319-321)ctC>ctG	p.L107L	NAA16_ENST00000379367.3_Silent_p.L107L|NAA16_ENST00000403412.3_Silent_p.L107L	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	107					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						GAAATGCCCTCAAATTAGATA	0.358000													3	71					0	0	0.009096	0	0
ROCK1	6093	broad.mit.edu	37	18	18566941	18566941	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18566941C>G	ENST00000399799.1	-	19	3214	c.2274G>C	c.(2272-2274)ttG>ttC	p.L758F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	758	Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TATTTCCAGTCAAATGTTCTA	0.368000													8	111					0	0	0.006214	0	0
LNX1	84708	broad.mit.edu	37	4	54364928	54364928	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:54364928G>C	ENST00000306888.2	-	4	821	c.570C>G	c.(568-570)ctC>ctG	p.L190L	LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000263925.7_Silent_p.L286L|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	286						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCCTAATAGAGAGGCTTTCAC	0.483000													21	60					0	0	0.010504	0	0
ZNF486	90649	broad.mit.edu	37	19	20307969	20307969	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:20307969G>C	ENST00000335117.8	+	4	507	c.450G>C	c.(448-450)caG>caC	p.Q150H	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAACTACCCAGAGCAAAATAT	0.303000													33	95					0	0	0.013726	0	0
ENPEP	2028	broad.mit.edu	37	4	111470954	111470954	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:111470954G>C	ENST00000265162.5	+	17	2755	c.2413G>C	c.(2413-2415)Gag>Cag	p.E805Q		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	805					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTACACTCTTGAGCAATACCA	0.413000													22	61					0	0	0.014323	0	0
LRRC48	83450	broad.mit.edu	37	17	17898417	17898417	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:17898417C>A	ENST00000313838.8	+	9	1195	c.816C>A	c.(814-816)ctC>ctA	p.L272L	LRRC48_ENST00000411504.2_Silent_p.L272L|LRRC48_ENST00000399187.1_Silent_p.L272L|LRRC48_ENST00000584166.1_Silent_p.L272L|LRRC48_ENST00000399182.1_Silent_p.L272L	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	272						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCGGTGAGCTCCTTGAGACAT	0.547000													25	21					3.7963e-18	4.06869e-18	0.003330	1	0
C12orf45	121053	broad.mit.edu	37	12	105388468	105388468	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105388468G>C	ENST00000552951.1	+	4	595	c.552G>C	c.(550-552)aaG>aaC	p.K184N	C12orf45_ENST00000548583.1_Intron|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	184										large_intestine(1)|lung(2)	3						GTAAAAAAAAGAAATAGTCAA	0.368000													16	34					0	0	0.006122	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275461	130275461	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:130275461G>A	ENST00000257359.6	-	9	3368	c.2662C>T	c.(2662-2664)Ccc>Tcc	p.P888S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	888	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AATCACAGGGGGCACAGCTGG	0.637000													14	97					0	0	0.004990	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958028	51958028	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:51958028G>C	ENST00000321424.3	-	5	1124	c.1058C>G	c.(1057-1059)tCa>tGa	p.S353*	SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.S260*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.S244*	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	353					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TACAGGTCTTGAGGTGCCTGC	0.547000													11	97					0	0	0.010729	0	0
C12orf43	64897	broad.mit.edu	37	12	121448689	121448689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:121448689G>A	ENST00000445832.3	-	3	241	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	C12orf43_ENST00000288757.3_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000539736.1_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000537817.1_Nonsense_Mutation_p.Q78*|C12orf43_ENST00000366211.2_Nonsense_Mutation_p.Q35*|C12orf43_ENST00000536407.2_Nonsense_Mutation_p.Q77*			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	77										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGGTGGTCTGAAGCTCGTTG	0.527000													50	95					0	0	0.014410	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988249	154988249	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:154988249G>C	ENST00000368426.3	+	3	1250	c.1113G>C	c.(1111-1113)gaG>gaC	p.E371D	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E371D|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E371D|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E405D	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	371					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACACAGGCGAGAAGCCCTTTG	0.647000													10	52					0	0	0.010729	0	0
C1orf141	400757	broad.mit.edu	37	1	67558949	67558949	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:67558949G>C	ENST00000371007.2	-	8	1051	c.942C>G	c.(940-942)ctC>ctG	p.L314L	C1orf141_ENST00000544837.1_Silent_p.L314L|C1orf141_ENST00000371006.1_Silent_p.L314L	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	314										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGAAATTATAGAGTGTATTCC	0.343000													31	98					0	0	0.009535	0	0
PODXL2	50512	broad.mit.edu	37	3	127390296	127390296	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:127390296C>G	ENST00000342480.6	+	7	1484	c.1445C>G	c.(1444-1446)tCc>tGc	p.S482C		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	482					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGAACTATTCCACAACCAGC	0.632000													23	88					0	0	0.004656	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675943	54675943	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:54675943G>A	ENST00000546500.1	+	4	964	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E117K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E117K|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E117K|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	117	Globular B domain.|RRM 2.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGAAGACACTGAAGAACATCA	0.378000													16	38					0	0	0.004007	0	0
NPTX1	4884	broad.mit.edu	37	17	78449452	78449452	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:78449452C>G	ENST00000306773.4	-	2	668	c.511G>C	c.(511-513)Gat>Cat	p.D171H	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	171					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCAGCTCATCGATCTTGCTC	0.637000													17	48					0	0	0.012319	0	0
HELZ2	85441	broad.mit.edu	37	20	62203596	62203596	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:62203596G>C	ENST00000467148.1	-	1	212	c.143C>G	c.(142-144)aCc>aGc	p.T48S	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		AGAGTGGCAGGTGACCAAGCA	0.706000													9	7					0	0	0.004482	0	0
PDZD8	118987	broad.mit.edu	37	10	119044202	119044202	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:119044202G>A	ENST00000334464.5	-	5	2281	c.2042C>T	c.(2041-2043)tCa>tTa	p.S681L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	681					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AATTTCTGATGATTCCCATGT	0.413000													12	100					0	0	0.013537	0	0
CEP350	9857	broad.mit.edu	37	1	180080147	180080147	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:180080147G>C	ENST00000367607.3	+	38	9623	c.9205G>C	c.(9205-9207)Gag>Cag	p.E3069Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	3069						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GGAGCTCCATGAGGAGGAGGC	0.413000													14	71					0	0	0.006122	0	0
USP54	159195	broad.mit.edu	37	10	75335391	75335391	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:75335391G>A	ENST00000339859.4	-	2	126	c.26C>T	c.(25-27)tCa>tTa	p.S9L	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S9L|USP54_ENST00000408019.1_Missense_Mutation_p.S9L|USP54_ENST00000428547.1_Missense_Mutation_p.S9L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	9					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ACGACCCCCTGAAAAATAATT	0.448000													18	105					0	0	0.010504	0	0
CHPF	79586	broad.mit.edu	37	2	220405145	220405145	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:220405145G>C	ENST00000243776.6	-	4	1536	c.1288C>G	c.(1288-1290)Cta>Gta	p.L430V	CHPF_ENST00000535926.1_Missense_Mutation_p.L268V	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	430						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTAGAGCTGTCCCC	0.647000													20	18					0	0	0.012319	0	0
NKD1	85407	broad.mit.edu	37	16	50666202	50666202	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:50666202G>A	ENST00000268459.3	+	9	930	c.706G>A	c.(706-708)Gac>Aac	p.D236N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	236					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTTCCAGGGTGACAGCCGCCT	0.557000													16	38					0	0	0.010504	0	0
MS4A7	58475	broad.mit.edu	37	11	60156975	60156975	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:60156975C>G	ENST00000358246.1	+	4	510	c.317C>G	c.(316-318)tCa>tGa	p.S106*	MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Nonsense_Mutation_p.S151*|MS4A7_ENST00000534016.1_Nonsense_Mutation_p.S106*	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	151						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CATTGTGGCTCAGAAATGGAT	0.443000													18	76					0	0	0.007413	0	0
SLIT3	6586	broad.mit.edu	37	5	168127613	168127613	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:168127613C>G	ENST00000519560.1	-	27	3335	c.2916G>C	c.(2914-2916)ctG>ctC	p.L972L	SLIT3_ENST00000404867.3_Silent_p.L972L|SLIT3_ENST00000332966.8_Silent_p.L979L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	972	EGF-like 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTGTCACTCAGGTGGCAGG	0.537000													27	71					0	0	0.012213	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044189	75044189	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:75044189G>C	ENST00000343932.4	+	4	1099	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	346					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GATCCAGAAGGAGCTGGGTAC	0.522000													16	70					0	0	0.006122	0	0
FAN1	22909	broad.mit.edu	37	15	31220836	31220836	+	Missense_Mutation	SNP	G	G	A	rs139319999		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:31220836G>A	ENST00000362065.4	+	11	2860	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	857					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TGGGATTCCGGATGTCTTCAG	0.577000								Direct reversal of damage					22	135					0	0	0.002780	0	0
UBXN8	7993	broad.mit.edu	37	8	30608921	30608921	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:30608921G>A	ENST00000519246.1	+	0	296							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						AGGAATCAAGGATTTTCTTTT	0.353000													3	18					0	0	0.004672	0	0
MAP2K1	5604	broad.mit.edu	37	15	66781559	66781559	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:66781559C>G	ENST00000307102.5	+	9	1498	c.967C>G	c.(967-969)Cca>Gca	p.P323A	MAP2K1_ENST00000566326.1_Missense_Mutation_p.P147A	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	323	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GCAGCCTCCTCCAAAACTGCC	0.483000													18	60					0	0	0.010504	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635368	65635368	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65635368G>T	ENST00000307998.6	-	10	1364	c.1134C>A	c.(1132-1134)atC>atA	p.I378I	EFEMP2_ENST00000528176.1_Silent_p.I378I	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	378					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTCCAGCACGGATCTGAAAGG	0.547000													33	116					2.68265e-12	2.84536e-12	0.013726	1	0
MAPK8	5599	broad.mit.edu	37	10	49618178	49618178	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:49618178C>G	ENST00000374189.1	+	5	598	c.417C>G	c.(415-417)atC>atG	p.I139M	MAPK8_ENST00000395611.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374182.3_Missense_Mutation_p.I139M|MAPK8_ENST00000360332.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374174.1_Missense_Mutation_p.I139M			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	139	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGTGTGGAATCAAGCACCTTC	0.383000													3	145					0	0	0.004672	0	0
GPR137	56834	broad.mit.edu	37	11	64054131	64054131	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64054131C>G	ENST00000539851.1	+	2	602	c.135C>G	c.(133-135)ctC>ctG	p.L45L	GPR137_ENST00000438980.2_Silent_p.L45L|GPR137_ENST00000411458.1_Silent_p.L103L|GPR137_ENST00000313074.3_Silent_p.L45L|GPR137_ENST00000377702.4_Silent_p.L45L	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	45						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						ATGCCCAGCTCTGGCTGGTGC	0.627000													44	138					0	0	0.014410	0	0
MXRA8	54587	broad.mit.edu	37	1	1290234	1290234	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1290234G>C	ENST00000309212.6	-	5	807	c.777C>G	c.(775-777)atC>atG	p.I259M	MXRA8_ENST00000342753.4_Missense_Mutation_p.I158M|MXRA8_ENST00000445648.2_Missense_Mutation_p.I259M	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	259	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAGCGGCTCGATACGCAGTG	0.687000													9	30					0	0	0.008291	0	0
BTBD10	84280	broad.mit.edu	37	11	13427228	13427228	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:13427228C>T	ENST00000278174.5	-	7	1229	c.984G>A	c.(982-984)caG>caA	p.Q328Q	BTBD10_ENST00000530907.1_Silent_p.Q336Q|BTBD10_ENST00000528120.1_Silent_p.Q280Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	328						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTTCTCCCATCTGTGGTGGAT	0.423000													50	147					0	0	0.014410	0	0
KDM3B	51780	broad.mit.edu	37	5	137754821	137754821	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137754821G>A	ENST00000314358.5	+	14	3815	c.3615G>A	c.(3613-3615)ctG>ctA	p.L1205L	KDM3B_ENST00000394866.1_Silent_p.L861L|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Silent_p.L237L	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1205					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATAGTGAACTGAAAGCCATCA	0.522000													20	50					0	0	0.012319	0	0
MUTYH	4595	broad.mit.edu	37	1	45796983	45796983	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:45796983G>C	ENST00000450313.1	-	14	1562	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	MUTYH_ENST00000448481.1_Missense_Mutation_p.I432M|MUTYH_ENST00000355498.2_Missense_Mutation_p.I421M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Missense_Mutation_p.I116M|MUTYH_ENST00000372098.3_Missense_Mutation_p.I446M|MUTYH_ENST00000372110.3_Missense_Mutation_p.I436M|MUTYH_ENST00000354383.6_Missense_Mutation_p.I422M|MUTYH_ENST00000372115.3_Missense_Mutation_p.I435M|MUTYH_ENST00000488731.2_Missense_Mutation_p.I116M|MUTYH_ENST00000372104.1_Missense_Mutation_p.I421M|MUTYH_ENST00000372100.5_Missense_Mutation_p.I432M|MUTYH_ENST00000528332.2_Missense_Mutation_p.I130M|MUTYH_ENST00000456914.2_Missense_Mutation_p.I421M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	446	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ATGTCAGCTTGATGTGAGAGA	0.537000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				11	58					0	0	0.008291	0	0
VPS13B	157680	broad.mit.edu	37	8	100844830	100844830	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100844830G>C	ENST00000358544.2	+	52	9750	c.9639G>C	c.(9637-9639)caG>caC	p.Q3213H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3188H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3213					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCCAGACAGAGTGTGGCAG	0.473000													23	104					0	0	0.002780	0	0
FAM104A	84923	broad.mit.edu	37	17	71228289	71228289	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:71228289G>A	ENST00000405159.3	-	1	221	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	FAM104A_ENST00000403627.3_Missense_Mutation_p.L53F|FAM104A_ENST00000583024.1_Missense_Mutation_p.L53F|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.L53F	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	53										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GCTCCGCGAAGAGAGGGAACA	0.701000													4	32					0	0	0.001168	0	0
ZNF425	155054	broad.mit.edu	37	7	148801943	148801943	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:148801943G>A	ENST00000378061.2	-	4	1152	c.1020C>T	c.(1018-1020)cgC>cgT	p.R340R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	340					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTTCAGGCGGAAGCACC	0.662000													9	38					0	0	0.004482	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043679	71043679	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:71043679C>A	ENST00000272367.2	-	4	910	c.834G>T	c.(832-834)ttG>ttT	p.L278F	CLEC4F_ENST00000426626.1_Missense_Mutation_p.L278F	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	278					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGGCTCCTTCCAAACTATTTC	0.408000													32	114					3.99451e-17	4.27472e-17	0.009535	1	0
BTD	686	broad.mit.edu	37	3	15686312	15686312	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:15686312C>T	ENST00000383778.4	+	4	1247	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	BTD_ENST00000449107.1_Silent_p.L319L|BTD_ENST00000303498.5_Silent_p.L317L|BTD_ENST00000437172.1_Silent_p.L319L			P43251	BTD_HUMAN	biotinidase	317	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ACACACCCCTCTGGAGTCCTT	0.488000													27	89					0	0	0.007291	0	0
TMEM260	54916	broad.mit.edu	37	14	57082694	57082694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:57082694C>A	ENST00000261556.6	+	8	1012	c.890C>A	c.(889-891)tCa>tAa	p.S297*	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S297*|TMEM260_ENST00000553335.1_3'UTR	NM_017799.3	NP_060269.3			transmembrane protein 260																		ACCGAACTCTCATTCAACATC	0.313000													38	123					6.68952e-21	7.20178e-21	0.013114	1	0
ATAD3B	83858	broad.mit.edu	37	1	1417591	1417591	+	Silent	SNP	C	C	T	rs143801965		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1417591C>T	ENST00000308647.7	+	6	704	c.588C>T	c.(586-588)cgC>cgT	p.R196R	ATAD3B_ENST00000378741.3_Silent_p.R28R|ATAD3B_ENST00000378736.2_3'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	196							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCGGGCGCGCGCCAAGGCCG	0.662000													22	21					0	0	0.014323	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													4	37					0	0	0.000602	0	0
GPR110	266977	broad.mit.edu	37	6	46977116	46977116	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977116C>T	ENST00000371253.2	-	11	2270	c.2055G>A	c.(2053-2055)cgG>cgA	p.R685R	GPR110_ENST00000283297.5_Silent_p.R488R|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	685					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CGAGGATGATCCGGTAAGCCA	0.483000													15	47					0	0	0.003163	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41613200	41613200	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613200C>T	ENST00000216237.5	+	5	752	c.594C>T	c.(592-594)ttC>ttT	p.F198F	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	198					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGCTGTTTCAAGCACGTGA	0.627000													20	51					0	0	0.008871	0	0
YTHDF1	54915	broad.mit.edu	37	20	61846954	61846954	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:61846954C>G	ENST00000370339.3	-	2	369		c.e2-1		YTHDF1_ENST00000370334.4_Splice_Site	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1											NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTTTTGTTCTCTGCACCGCCG	0.622000													17	29					0	0	0.014323	0	0
C4orf21	55345	broad.mit.edu	37	4	113468485	113468485	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:113468485C>T	ENST00000505019.1	-	24	5679	c.5554G>A	c.(5554-5556)Gaa>Aaa	p.E1852K		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATCCATTTTCATGAGCTGCA	0.363000													10	57					0	0	0.008291	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334493	35334493	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:35334493G>A	ENST00000373347.1	-	9	2466	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T733M			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	733					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGGCCCTGCGTGTGGACCGT	0.741000													12	12					0	0	0.002450	0	0
HMGN1	3150	broad.mit.edu	37	21	40714934	40714934	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:40714934G>C	ENST00000361263.4	-	3	979	c.298C>G	c.(298-300)Cta>Gta	p.L100V	HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000380748.1_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				AATGTTTCTAGAGCTACTAAA	0.333000													4	4					0	0	0.000602	0	0
COL7A1	1294	broad.mit.edu	37	3	48626388	48626388	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:48626388G>A	ENST00000328333.8	-	18	2462	c.2355C>T	c.(2353-2355)ctC>ctT	p.L785L	COL7A1_ENST00000454817.1_Silent_p.L785L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	785	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAAGCATTGAGGATCTGCA	0.607000													30	92					0	0	0.012213	0	0
TENM1	10178	broad.mit.edu	37	X	123514646	123514646	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:123514646C>G	ENST00000422452.2	-	32	8002	c.7939G>C	c.(7939-7941)Gaa>Caa	p.E2647Q	TENM1_ENST00000371130.3_Missense_Mutation_p.E2640Q|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTTTCCTCTTCGACAGTTGTC	0.532000													3	83					0	0	0.004672	0	0
LCMT2	9836	broad.mit.edu	37	15	43621022	43621022	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:43621022C>G	ENST00000305641.5	-	1	1781	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.E135Q	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	556					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATGGCTCCTCAGAAGCCCCG	0.557000													9	121					0	0	0.006214	0	0
SBNO1	55206	broad.mit.edu	37	12	123782660	123782660	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123782660G>A	ENST00000420886.2	-	30	3903	c.3904C>T	c.(3904-3906)Cgt>Tgt	p.R1302C	SBNO1_ENST00000602398.1_Missense_Mutation_p.R1302C|SBNO1_ENST00000267176.4_Missense_Mutation_p.R1301C|SBNO1_ENST00000602750.1_Missense_Mutation_p.R1301C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1302							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAATATGTACGGCAACGAAGA	0.413000													35	78					0	0	0.004289	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73339833	73339833	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73339833C>T	ENST00000258098.6	-	1	313	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	25	C2.				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCGCAGCACCGTCACCTGG	0.751000													3	3					0	0	0.004672	0	0
TMEM202	338949	broad.mit.edu	37	15	72691140	72691140	+	Silent	SNP	A	A	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:72691140A>G	ENST00000341689.3	+	2	282	c.228A>G	c.(226-228)ccA>ccG	p.P76P	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCATGTCCCCACTGAACTGGG	0.527000													26	56					0	0	0.005443	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812732	31812732	+	Missense_Mutation	SNP	C	C	G	rs138157793	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:31812732C>G	ENST00000334067.3	+	1	136	c.87C>G	c.(85-87)ttC>ttG	p.F29L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	29						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ATAATTTGTTCTACCCCAGCA	0.478000													3	111					0	0	0.000602	0	0
SEC31A	22872	broad.mit.edu	37	4	83791497	83791497	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:83791497G>C	ENST00000432794.1	-	8	1026	c.863C>G	c.(862-864)tCc>tGc	p.S288C	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000264405.5_Missense_Mutation_p.S60C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S288C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S288C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S288C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S288C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S288C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S288C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S288C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S288C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S288C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S283C			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	288	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTTGGATTGGAGCAGAGAAT	0.408000													38	134					0	0	0.008740	0	0
OTUD5	55593	broad.mit.edu	37	X	48783269	48783269	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:48783269C>G	ENST00000156084.4	-	6	1192	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Missense_Mutation_p.E156Q|OTUD5_ENST00000396743.3_Missense_Mutation_p.E373Q|OTUD5_ENST00000376488.3_Missense_Mutation_p.E373Q	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	378					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						ATCTGCTGTTCAATCCATGAC	0.507000													8	45					0	0	0.008291	0	0
TNC	3371	broad.mit.edu	37	9	117848518	117848518	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:117848518C>T	ENST00000350763.4	-	3	1903	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	TNC_ENST00000542877.1_Missense_Mutation_p.D498N|TNC_ENST00000346706.3_Missense_Mutation_p.D498N|TNC_ENST00000423613.2_Missense_Mutation_p.D498N|TNC_ENST00000341037.4_Missense_Mutation_p.D498N|TNC_ENST00000345230.3_Missense_Mutation_p.D498N|TNC_ENST00000340094.3_Missense_Mutation_p.D498N|TNC_ENST00000537320.1_Missense_Mutation_p.D498N|TNC_ENST00000535648.1_Missense_Mutation_p.D498N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	498	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGGCGATCCCGGCAGTCT	0.602000													43	140					0	0	0.013114	0	0
RAP2A	5911	broad.mit.edu	37	13	98086811	98086811	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:98086811C>T	ENST00000245304.4	+	1	336	c.87C>T	c.(85-87)atC>atT	p.I29I		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	29					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GCACCTTCATCGAGAAATACG	0.642000													18	90					0	0	0.006122	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830913	4830913	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:4830913T>A	ENST00000348624.4	+	17	2415	c.2321T>A	c.(2320-2322)gTg>gAg	p.V774E	AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	774					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AGCACGGAGGTGTGCAGCCCC	0.697000													8	21					0	0	0.013537	0	0
SAFB	6294	broad.mit.edu	37	19	5664440	5664440	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:5664440G>A	ENST00000292123.5	+	17	2431	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	SAFB_ENST00000538656.1_Missense_Mutation_p.R617Q|SAFB_ENST00000433404.1_Missense_Mutation_p.R605Q|SAFB_ENST00000454510.1_Missense_Mutation_p.R706Q|SAFB_ENST00000592224.1_Missense_Mutation_p.R774Q|SAFB_ENST00000588852.1_Missense_Mutation_p.R775Q	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	775	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ATGGGAGAACGAGAAGGACAG	0.458000													5	36					0	0	0.001168	0	0
GUCY2F	2986	broad.mit.edu	37	X	108625366	108625366	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:108625366C>G	ENST00000218006.2	-	17	3422	c.3131G>C	c.(3130-3132)cGa>cCa	p.R1044P		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1044					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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGTTCTTCCTCGAAGCTCCAC	0.423000													3	166					0	0	0.009096	0	0
TNN	63923	broad.mit.edu	37	1	175048789	175048789	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:175048789G>C	ENST00000239462.4	+	3	843	c.730G>C	c.(730-732)Gac>Cac	p.D244H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	244	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGCTTCTGTGACACGGGCGA	0.662000													3	15					0	0	0.009096	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899402	112899402	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:112899402C>G	ENST00000374530.3	+	8	1758	c.1578C>G	c.(1576-1578)ctC>ctG	p.L526L	AKAP2_ENST00000555236.1_Silent_p.L526L|AKAP2_ENST00000374525.1_Silent_p.L384L|AKAP2_ENST00000434623.2_Silent_p.L384L|AKAP2_ENST00000510514.5_Silent_p.L526L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L526L|AKAP2_ENST00000259318.7_Silent_p.L295L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		295							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CATCGCAGCTCTGCACAGCCC	0.527000													10	22					0	0	0.010729	0	0
HECA	51696	broad.mit.edu	37	6	139487747	139487747	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:139487747G>A	ENST00000367658.2	+	2	883	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	200					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GATGCAGGACGAGAAAAAGAA	0.582000													37	45					0	0	0.006230	0	0
PIGZ	80235	broad.mit.edu	37	3	196674441	196674441	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:196674441C>G	ENST00000412723.1	-	3	1473	c.1327G>C	c.(1327-1329)Gag>Cag	p.E443Q		NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	443					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ACCACCTGCTCCAGGTACTCC	0.647000													4	46					0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126241934	126241934	+	Silent	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:126241934C>A	ENST00000394329.3	+	1	4381	c.4368C>A	c.(4366-4368)tcC>tcA	p.S1456S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1456	Cadherin 14.				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						GTCAACTATCCTACACAATCA	0.388000													27	101					4.22769e-11	4.45773e-11	0.006320	1	0
EHD2	30846	broad.mit.edu	37	19	48229328	48229328	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:48229328C>T	ENST00000263277.3	+	4	1013	c.762C>T	c.(760-762)atC>atT	p.I254I	EHD2_ENST00000538399.1_Silent_p.I118I|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	254					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GCGTCTACATCGGCTCCTTCT	0.697000													6	6					0	0	0.001984	0	0
PHF21A	51317	broad.mit.edu	37	11	45975109	45975109	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:45975109G>T	ENST00000257821.4	-	10	1687	c.1064C>A	c.(1063-1065)gCa>gAa	p.A355E	PHF21A_ENST00000418153.2_Missense_Mutation_p.A354E|PHF21A_ENST00000323180.6_Missense_Mutation_p.A355E|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	354					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGTTTGGGTGCAGCAGGTGG	0.448000													6	51					1.12685e-05	1.16588e-05	0.004482	1	0
WDR70	55100	broad.mit.edu	37	5	37479940	37479940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:37479940C>T	ENST00000265107.4	+	8	847	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.Q231*|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	231										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTACAGCCATCAGATCAAGTC	0.338000													30	107					0	0	0.003271	0	0
EBF2	64641	broad.mit.edu	37	8	25708194	25708194	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:25708194G>C	ENST00000520164.1	-	15	2149	c.1612C>G	c.(1612-1614)Cag>Gag	p.Q538E	EBF2_ENST00000408929.3_Missense_Mutation_p.Q390E|EBF2_ENST00000535548.1_3'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	538					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCACTCTTCTGTTTGACAGCA	0.522000													41	70					0	0	0.005524	0	0
ATP5G2	517	broad.mit.edu	37	12	54069937	54069937	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:54069937C>T	ENST00000394349.3	-	1	172	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	ATP5G2_ENST00000338662.5_Intron|ATP5G2_ENST00000549164.1_Intron	NM_005176.5	NP_005167.2	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	0					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CGCTCAGCCACGGATAGAGTG	0.637000											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	87					0	0	0.008291	0	0
AADACL4	343066	broad.mit.edu	37	1	12726206	12726206	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:12726206C>G	ENST00000376221.1	+	4	684	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	228						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCAGGCATTCTGTTTGCAGT	0.527000													102	177					0	0	0.014410	0	0
GABRR3	200959	broad.mit.edu	37	3	97711819	97711819	+	RNA	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:97711819G>C	ENST00000472788.1	-	0	982					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						CCACAGCCTTGAGGTAGGACA	0.532000													16	132					0	0	0.004007	0	0
ALS2	57679	broad.mit.edu	37	2	202625889	202625889	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:202625889G>A	ENST00000264276.6	-	4	1200	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ALS2_ENST00000467448.1_Silent_p.L276L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	276					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGGGGCTGAGAGCAGTGC	0.453000													22	46					0	0	0.010504	0	0
AGRP	181	broad.mit.edu	37	16	67516684	67516684	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:67516684C>T	ENST00000290953.2	-	4	553	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	85					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		TACGCAGCGACGTGAGGAGCG	0.602000													19	72					0	0	0.008871	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236754	140236754	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236754C>G	ENST00000307360.5	+	1	1121	c.1121C>G	c.(1120-1122)tCt>tGt	p.S374C	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S374C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGCGTTTCTGACCATGAT	0.488000													33	133					0	0	0.003755	0	0
FREM2	341640	broad.mit.edu	37	13	39450265	39450265	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:39450265G>C	ENST00000280481.7	+	19	8604	c.8388G>C	c.(8386-8388)tgG>tgC	p.W2796C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2796					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TACAGCAGTGGAGCTTTGTCT	0.418000													27	150					0	0	0.013726	0	0
USP29	57663	broad.mit.edu	37	19	57642360	57642360	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:57642360G>A	ENST00000254181.4	+	4	2771	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	USP29_ENST00000598197.1_Missense_Mutation_p.E773K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	773					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGTCTACAGAATTAAGACT	0.463000													17	24					0	0	0.007413	0	0
MYO3A	53904	broad.mit.edu	37	10	26286125	26286125	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:26286125G>C	ENST00000265944.5	+	6	612	c.446G>C	c.(445-447)aGa>aCa	p.R149T	MYO3A_ENST00000376301.1_Missense_Mutation_p.R149T|MYO3A_ENST00000543632.1_Missense_Mutation_p.R149T|MYO3A_ENST00000376302.1_Missense_Mutation_p.R149T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	149	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTATCCACAGAGATGTGAAA	0.308000													20	61					0	0	0.010504	0	0
BIRC3	330	broad.mit.edu	37	11	102195714	102195714	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:102195714G>A	ENST00000263464.3	+	2	3224	c.474G>A	c.(472-474)atG>atA	p.M158I	BIRC3_ENST00000532808.1_Missense_Mutation_p.M158I	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	158					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTGCCTTGATGAGAAGTTCCT	0.408000			T	MALT1	MALT								60	147					0	0	0.014410	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236766	140236766	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140236766C>T	ENST00000307360.5	+	1	1133	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S378L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCATGATTCAGGAGCCAAC	0.512000													32	136					0	0	0.012213	0	0
H1F0	3005	broad.mit.edu	37	22	38202088	38202088	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38202088G>A	ENST00000340857.2	+	1	975	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	179					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CCAAACCAGTGAAACCCAAAG	0.502000													19	44					0	0	0.012319	0	0
NLRP5	126206	broad.mit.edu	37	19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522000													58	202					0	0	0.014410	0	0
ZFP2	80108	broad.mit.edu	37	5	178359095	178359095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:178359095C>T	ENST00000361362.2	+	5	1311	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q261*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TATTGTACATCAGAGAAGCCA	0.398000													23	76					0	0	0.004656	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566224	27566224	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:27566224C>G	ENST00000359541.2	-	2	627	c.198G>C	c.(196-198)caG>caC	p.Q66H	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q66H			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	66						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCTCCTCTGATCAGGAG	0.488000													9	282					0	0	0.008291	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793078	140793078	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:140793078C>G	ENST00000398610.2	+	1	336	c.336C>G	c.(334-336)atC>atG	p.I112M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTTAATATCCTTGTGGAAG	0.488000													42	99					0	0	0.008740	0	0
CDKL4	344387	broad.mit.edu	37	2	39406448	39406448	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:39406448C>T	ENST00000378803.1	-	8	806	c.807G>A	c.(805-807)atG>atA	p.M269I	CDKL4_ENST00000395035.3_Missense_Mutation_p.M269I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	269	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				CATCTGGATTCATCTTCAGAC	0.423000													14	90					0	0	0.001855	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816835	69816835	+	Missense_Mutation	SNP	G	G	A	rs138523993		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69816835G>A	ENST00000251566.4	-	1	674	c.644C>T	c.(643-645)tCa>tTa	p.S215L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	215						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAACAAAACTGAAAGCATTGA	0.358000													13	33					0	0	0.001855	0	0
POSTN	10631	broad.mit.edu	37	13	38154776	38154776	+	Missense_Mutation	SNP	G	G	A	rs145787730	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:38154776G>A	ENST00000379747.4	-	11	1568	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	POSTN_ENST00000541179.1_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	484	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TATGTGAATCGCACCGTTTCT	0.443000													22	145					0	0	0.003330	0	0
VPS13B	157680	broad.mit.edu	37	8	100654378	100654378	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:100654378G>A	ENST00000358544.2	+	34	5746	c.5635G>A	c.(5635-5637)Gaa>Aaa	p.E1879K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E1854K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1879					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCTCCCAGAAGTTGATTC	0.388000													20	189					0	0	0.010504	0	0
GALR2	8811	broad.mit.edu	37	17	74071153	74071153	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071153C>T	ENST00000329003.3	+	1	279	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	63					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAACCTGTTCATCCTTAACC	0.652000													11	70					0	0	0.010729	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68150972	68150972	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:68150972C>T	ENST00000262215.3	-	21	3525	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E500K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1046					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCTTATACCTCATGCCATGAA	0.323000													24	76					0	0	0.004656	0	0
ABCA10	10349	broad.mit.edu	37	17	67150091	67150091	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:67150091G>A	ENST00000269081.4	-	33	4755	c.3846C>T	c.(3844-3846)ttC>ttT	p.F1282F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1282	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTACCCCAAGAACTTGAGGC	0.478000													27	124					0	0	0.006320	0	0
CTDP1	9150	broad.mit.edu	37	18	77474881	77474881	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:77474881C>G	ENST00000299543.7	+	8	1568	c.1421C>G	c.(1420-1422)tCt>tGt	p.S474C	CTDP1_ENST00000075430.7_Missense_Mutation_p.S474C	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	474	Ser-rich.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TCCTCCGCCTCTGATGGCGAA	0.677000													2	4					0	0	0.004672	0	0
RNF32	140545	broad.mit.edu	37	7	156437207	156437207	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:156437207G>C	ENST00000392741.2	+	2	118	c.30G>C	c.(28-30)aaG>aaC	p.K10N	RNF32_ENST00000392740.1_Missense_Mutation_p.K10N|RNF32_ENST00000343665.4_Missense_Mutation_p.K10N|RNF32_ENST00000311822.8_Missense_Mutation_p.K10N|RNF32_ENST00000405335.1_Missense_Mutation_p.K10N|RNF32_ENST00000317955.5_Missense_Mutation_p.K10N|RNF32_ENST00000432459.2_Missense_Mutation_p.K10N|RNF32_ENST00000392743.2_Missense_Mutation_p.K10N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	10						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ACTCATCTAAGAAAGATAACT	0.333000													5	53					0	0	0.001168	0	0
GPR110	266977	broad.mit.edu	37	6	46977410	46977410	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977410C>A	ENST00000371253.2	-	11	1976	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	GPR110_ENST00000283297.5_Missense_Mutation_p.W390C|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	587					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATAGGTGATCCATTTTACAA	0.433000													18	91					5.26018e-13	5.59577e-13	0.012319	1	0
UBR4	23352	broad.mit.edu	37	1	19446699	19446699	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:19446699G>A	ENST00000375267.2	-	69	10288	c.10285C>T	c.(10285-10287)Cac>Tac	p.H3429Y	UBR4_ENST00000375254.3_Missense_Mutation_p.H3429Y|UBR4_ENST00000375226.2_Missense_Mutation_p.H3405Y|UBR4_ENST00000375217.2_Missense_Mutation_p.H3422Y			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3429					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTCAGACAGTGGGCCTGCCAG	0.512000													13	108					0	0	0.001855	0	0
TRAPPC4	51399	broad.mit.edu	37	11	118892481	118892481	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118892481G>C	ENST00000533632.1	+	4	830	c.466G>C	c.(466-468)Gtg>Ctg	p.V156L	TRAPPC4_ENST00000526141.1_3'UTR|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.V113L|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.V156L|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.V63L|TRAPPC4_ENST00000359005.4_Intron|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.V102L	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	156					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GATCAAGTTTGTGGTTCTAGC	0.408000													13	60					0	0	0.003163	0	0
C17orf75	64149	broad.mit.edu	37	17	30662447	30662447	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30662447C>G	ENST00000577809.1	-	6	613	c.564G>C	c.(562-564)gaG>gaC	p.E188D	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E188D	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	188					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTATGTGACTCTCCAGGCCCC	0.398000													27	150					0	0	0.007291	0	0
SRPK1	6732	broad.mit.edu	37	6	35888247	35888247	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35888247C>T	ENST00000373825.2	-	2	357	c.72G>A	c.(70-72)agG>agA	p.R24R	SRPK1_ENST00000423325.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	24					cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AGACTCACTTCCTTTGGGCTT	0.542000													59	102					0	0	0.014410	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499805	59499805	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:59499805G>C	ENST00000307144.4	+	1	764	c.666G>C	c.(664-666)ttG>ttC	p.L222F	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	222					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	p.L222F(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTCGTTTCTTGATTGGACAAA	0.438000													16	72					0	0	0.004007	0	0
OR10H4	126541	broad.mit.edu	37	19	16060070	16060070	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:16060070G>A	ENST00000322107.1	+	1	253	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CATGCTGGCTGATCTGCTTTC	0.507000													6	349					0	0	0.001168	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424864	69424864	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:69424864C>G	ENST00000333026.3	+	7	1022	c.922C>G	c.(922-924)Cac>Gac	p.H308D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	308					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGACAAGTATCACGCACTCTA	0.468000													18	18					0	0	0.006122	0	0
XDH	7498	broad.mit.edu	37	2	31598258	31598258	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:31598258C>T	ENST00000379416.3	-	15	1638	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	530					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTCCAGGTTCTCTTGGCCCA	0.552000													39	120					0	0	0.007835	0	0
ROCK1	6093	broad.mit.edu	37	18	18586476	18586476	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:18586476G>A	ENST00000399799.1	-	16	2661	c.1721C>T	c.(1720-1722)tCa>tTa	p.S574L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	574	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTGACTAATTGACTTGCTCAT	0.383000													44	121					0	0	0.014410	0	0
THEMIS2	9473	broad.mit.edu	37	1	28211959	28211959	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:28211959C>G	ENST00000373921.3	+	5	1877	c.1873C>G	c.(1873-1875)Cta>Gta	p.L625V	THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L496V	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		AAGGCAGGATCTAGGTGAGTC	0.597000													11	29					0	0	0.010729	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980730	23980730	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:23980730G>A	ENST00000238789.5	-	25	3979	c.3636C>T	c.(3634-3636)atC>atT	p.I1212I	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1212							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGTCCATGATGTCACAGG	0.443000													31	101					0	0	0.009535	0	0
FLG	2312	broad.mit.edu	37	1	152282518	152282518	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152282518G>A	ENST00000368799.1	-	3	4879	c.4844C>T	c.(4843-4845)tCc>tTc	p.S1615F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1615	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTTTCTGGAAGCCGACTC	0.572000									Ichthyosis				57	147					0	0	0.014410	0	0
ZNF764	92595	broad.mit.edu	37	16	30569449	30569449	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:30569449C>G	ENST00000395091.2	-	1	370	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	AC002310.13_ENST00000568114.1_Missense_Mutation_p.E19Q|ZNF764_ENST00000252797.2_Missense_Mutation_p.E19Q			Q96H86	ZN764_HUMAN	zinc finger protein 764	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						TCCCTCCACTCGGGTCCGGCC	0.726000													11	11					0	0	0.008291	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													5	49					0	0	0.001984	0	0
PSME1	5720	broad.mit.edu	37	14	24606752	24606752	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:24606752G>C	ENST00000382708.3	+	5	333	c.270G>C	c.(268-270)aaG>aaC	p.K90N	PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K90N|PSME1_ENST00000561435.1_Missense_Mutation_p.K90N|PSME1_ENST00000470718.1_3'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	90					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		ATGAAAAGAAGAAGGGGGAGG	0.483000													12	64					0	0	0.013537	0	0
GLCCI1	113263	broad.mit.edu	37	7	8062158	8062158	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:8062158C>A	ENST00000223145.5	+	3	1212	c.655C>A	c.(655-657)Cag>Aag	p.Q219K	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	219										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GAGGTCACATCAGCGTTCTGC	0.368000													7	99					5.18039e-06	5.36754e-06	0.003080	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133946815	133946815	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:133946815G>C	ENST00000298622.4	+	3	771		c.e3-1			NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTCCTTGTAGATGGAGGAGA	0.537000													3	10					0	0	0.009096	0	0
PGBD2	267002	broad.mit.edu	37	1	249211312	249211312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:249211312C>T	ENST00000539153.1	+	4	775	c.520C>T	c.(520-522)Cag>Tag	p.Q174*	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Nonsense_Mutation_p.Q177*			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	177										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTTACGGCTCAGGAATTGAA	0.368000													20	120					0	0	0.008871	0	0
TF	7018	broad.mit.edu	37	3	133496034	133496034	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:133496034G>A	ENST00000402696.3	+	16	2499	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	TF_ENST00000264998.3_Missense_Mutation_p.E545K	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	672	Transferrin-like 2.			E -> Q (in Ref. 12; AA sequence).	cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATACTTAGGAGAAGAATATGT	0.443000													13	40					0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617904	77617904	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:77617904G>A	ENST00000521891.2	+	2	2029	c.1581G>A	c.(1579-1581)gcG>gcA	p.A527A	ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	527						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTCGGCGACTGTTTCTG	0.433000										HNSCC(33;0.089)			14	57					0	0	0.003163	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73303223	73303223	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:73303223C>T	ENST00000258098.6	-	4	1896	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	552					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GCCCACTGCTCAGGGCTATGC	0.622000													27	261					0	0	0.004656	0	0
ZNF91	7644	broad.mit.edu	37	19	23544945	23544945	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:23544945G>A	ENST00000300619.7	-	4	1041	c.836C>T	c.(835-837)tCa>tTa	p.S279L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S247L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	279						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTTAGGGTTGAGGACCATAG	0.388000													11	83					0	0	0.013537	0	0
KLHL3	26249	broad.mit.edu	37	5	136964011	136964011	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:136964011G>A	ENST00000508657.1	-	13	2184	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506491.1_Silent_p.D440D|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.D522D	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	522						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACATGTTCATGTCTGCCACTT	0.547000													29	195					0	0	0.008361	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65727397	65727397	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:65727397G>A	ENST00000532620.1	+	0	1888							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCTGGACCCGGAGTGCAGTCC	0.562000													5	21					0	0	0.000602	0	0
TPD52	7163	broad.mit.edu	37	8	80976724	80976724	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:80976724C>G	ENST00000379096.5	-	2	238	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	TPD52_ENST00000517427.1_Missense_Mutation_p.E82Q|TPD52_ENST00000448733.2_Missense_Mutation_p.E82Q|TPD52_ENST00000537855.1_Missense_Mutation_p.E82Q|TPD52_ENST00000379097.3_Missense_Mutation_p.E82Q|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000518937.1_Missense_Mutation_p.E42Q|TPD52_ENST00000520527.1_Missense_Mutation_p.E82Q	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	82					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTTGCAAGTTCTCTTCTTAGC	0.428000													43	105					0	0	0.011902	0	0
ADAM17	6868	broad.mit.edu	37	2	9630344	9630344	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:9630344G>A	ENST00000310823.3	-	19	2619	c.2437C>T	c.(2437-2439)Cgt>Tgt	p.R813C	IAH1_ENST00000545602.1_Intron	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	813					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CGATTCTGACGCTGCAGTTTA	0.438000													5	67					0	0	0.001168	0	0
XIRP1	165904	broad.mit.edu	37	3	39226071	39226071	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:39226071C>G	ENST00000340369.3	-	2	5094	c.4866G>C	c.(4864-4866)caG>caC	p.Q1622H	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q305H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1622							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGACTTGACTCTGGGCCTCAG	0.562000													54	161					0	0	0.014410	0	0
MAST4	375449	broad.mit.edu	37	5	66456300	66456300	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:66456300C>G	ENST00000404260.3	+	27	3982	c.3674C>G	c.(3673-3675)tCa>tGa	p.S1225*	MAST4_ENST00000403625.2_Nonsense_Mutation_p.S1222*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.S1033*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.S1028*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.S1043*			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1225	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATAAGGTGTCAATCACTACT	0.423000													64	186					0	0	0.014410	0	0
HAT1	8520	broad.mit.edu	37	2	172822934	172822934	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:172822934G>C	ENST00000264108.4	+	7	652	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	HAT1_ENST00000392584.1_Missense_Mutation_p.E121Q|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	206					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTGCAGATTTGAGAAGTATAA	0.438000													3	40					0	0	0.004672	0	0
DGCR8	54487	broad.mit.edu	37	22	20079432	20079432	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20079432C>G	ENST00000351989.3	+	7	1974	c.1545C>G	c.(1543-1545)atC>atG	p.I515M	DGCR8_ENST00000383024.2_Missense_Mutation_p.I515M|DGCR8_ENST00000407755.1_Missense_Mutation_p.I515M	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	515	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGTCTGCATCCTGCACGAGT	0.468000													10	34					0	0	0.010729	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993975	143993975	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:143993975C>G	ENST00000323110.2	-	8	1371	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	457					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCTCTGCCTCTGCCAGGCGC	0.692000									Familial Hyperaldosteronism type I				15	69					0	0	0.004990	0	0
RBM26	64062	broad.mit.edu	37	13	79911392	79911392	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:79911392G>A	ENST00000438737.2	-	19	3018	c.2578C>T	c.(2578-2580)Cat>Tat	p.H860Y	RBM26_ENST00000438724.1_Missense_Mutation_p.H836Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H833Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	860					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)		CCTCTTGAATGAATTCCTCTG	0.547000													4	100					0	0	0.000602	0	0
KATNAL1	84056	broad.mit.edu	37	13	30804674	30804674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:30804674G>A	ENST00000380615.3	-	8	1110	c.943C>T	c.(943-945)Cga>Tga	p.R315*	KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R315*	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	315						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GTTCCTCTTCGACTGCAGATA	0.348000													6	40					0	0	0.001984	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278850	47278850	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47278850C>T	ENST00000542575.2	-	8	2171	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	SLC1A5_ENST00000594991.1_Missense_Mutation_p.E339K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.E313K|SLC1A5_ENST00000412532.2_Missense_Mutation_p.E287K	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	515					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TTTCCTTCCTCAGTGGGGACT	0.582000													53	201					0	0	0.014410	0	0
ERC2	26059	broad.mit.edu	37	3	55717821	55717821	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:55717821C>G	ENST00000288221.6	-	17	3169		c.e17+1			NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGTTTCTCACCCCTCAAAAC	0.478000													4	63					0	0	0.009096	0	0
DDX20	11218	broad.mit.edu	37	1	112303904	112303904	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:112303904C>T	ENST00000369702.4	+	7	1639	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	340	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)		GAGTGCATTTCAGGTAAGTTC	0.338000													11	78					0	0	0.001855	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145966	81145966	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:81145966G>A	ENST00000533478.1	-	0	4840				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGTCTCACTGAAGCTGATGC	0.532000													19	38					0	0	0.006122	0	0
DMC1	11144	broad.mit.edu	37	22	38945946	38945946	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38945946C>G	ENST00000216024.2	-	8	754	c.478G>C	c.(478-480)Gat>Cat	p.D160H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	160					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTTTCTGTATCAATGAAGATA	0.328000								Homologous recombination					8	40					0	0	0.004482	0	0
FAM160B2	64760	broad.mit.edu	37	8	21960135	21960135	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:21960135G>A	ENST00000289921.7	+	16	2135	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	697										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GGCTCCTGGGGAGCAGTGAGT	0.622000													5	4					0	0	0.000602	0	0
FBN2	2201	broad.mit.edu	37	5	127654636	127654636	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:127654636G>C	ENST00000508053.1	-	41	5503	c.4529C>G	c.(4528-4530)cCt>cGt	p.P1510R	FBN2_ENST00000262464.4_Missense_Mutation_p.P1510R			P35556	FBN2_HUMAN	fibrillin 2	1510	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAACATTCCAGGCAGGTTATT	0.358000													5	113					0	0	0.000602	0	0
GABBR2	9568	broad.mit.edu	37	9	101304180	101304180	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:101304180G>A	ENST00000259455.2	-	3	1064	c.605C>T	c.(604-606)aCg>aTg	p.T202M	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	202					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AACGTCTTGCGTCAGCGTGCC	0.532000													9	48					0	0	0.008291	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354333	118354333	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:118354333G>C	ENST00000528052.1	+	5	493	c.422G>C	c.(421-423)cGa>cCa	p.R141P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R141P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R141P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	141					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AACAACGTGCGAGTGGTGGGC	0.592000													10	62					0	0	0.006214	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409589	56409589	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:56409589G>T	ENST00000544374.1	-	1	358	c.330C>A	c.(328-330)ttC>ttA	p.F110L	OR5AP2_ENST00000302981.1_Missense_Mutation_p.F109L			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGGAGCCAAAGAAGTAGAACT	0.512000													17	41					0.006122	0.0062086	0.006122	1	0
BPIFB3	359710	broad.mit.edu	37	20	31647253	31647253	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:31647253G>A	ENST00000375494.3	+	3	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	117	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GGGTGCAGCTGAGCCTGCACA	0.582000													13	24					0	0	0.007413	0	0
CUL2	8453	broad.mit.edu	37	10	35327992	35327992	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:35327992C>G	ENST00000374748.1	-	10	1046	c.733G>C	c.(733-735)Gat>Cat	p.D245H	CUL2_ENST00000602371.1_Missense_Mutation_p.D188H|CUL2_ENST00000374749.3_Missense_Mutation_p.D245H|CUL2_ENST00000374746.1_Missense_Mutation_p.D245H|CUL2_ENST00000537177.1_Missense_Mutation_p.D264H|CUL2_ENST00000374751.3_Missense_Mutation_p.D245H|CUL2_ENST00000374742.1_Missense_Mutation_p.D245H			Q13617	CUL2_HUMAN	cullin 2	245					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTCTTCATCTTTTAATCTA	0.323000													10	41					0	0	0.010729	0	0
COPB1	1315	broad.mit.edu	37	11	14520460	14520460	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:14520460C>G	ENST00000249923.3	-	2	315	c.15G>C	c.(13-15)gaG>gaC	p.E5D	COPB1_ENST00000439561.2_Missense_Mutation_p.E5D|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	5					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGCATACGTTCTCAGCCGCCG	0.343000													12	40					0	0	0.010729	0	0
TP63	8626	broad.mit.edu	37	3	189586432	189586432	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189586432G>A	ENST00000264731.3	+	8	1145	c.1056G>A	c.(1054-1056)agG>agA	p.R352R	TP63_ENST00000320472.5_Silent_p.R352R|TP63_ENST00000392461.3_Silent_p.R258R|TP63_ENST00000392460.3_Silent_p.R352R|TP63_ENST00000392463.2_Silent_p.R258R|TP63_ENST00000437221.1_Silent_p.R258R|TP63_ENST00000440651.2_Silent_p.R352R|TP63_ENST00000354600.5_Silent_p.R258R|TP63_ENST00000418709.2_Silent_p.R352R|TP63_ENST00000456148.1_Silent_p.R258R|TP63_ENST00000449992.1_Silent_p.R173R|TP63_ENST00000382063.4_Silent_p.R267R	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	352	Interaction with HIPK2.		R -> G (in EDRH and OFC8).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAAGAGACAGGAAGGCGGATG	0.502000										HNSCC(45;0.13)			17	66					0	0	0.006122	0	0
ANO5	203859	broad.mit.edu	37	11	22281213	22281213	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:22281213C>T	ENST00000324559.8	+	15	1873	c.1556C>T	c.(1555-1557)tCa>tTa	p.S519L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	519						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCACAGGATCATGCTTGAAC	0.378000													20	61					0	0	0.012319	0	0
CCNB3	85417	broad.mit.edu	37	X	50094305	50094305	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:50094305G>A	ENST00000376042.1	+	12	4324	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	CCNB3_ENST00000376038.1_Silent_p.L238L|CCNB3_ENST00000276014.7_Silent_p.L1342L|CCNB3_ENST00000348603.2_Silent_p.L238L			Q8WWL7	CCNB3_HUMAN	cyclin B3	1342					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)					TCAGACAGCTGAACAAACTGC	0.458000													71	49					0	0	0.014410	0	0
NUDC	10726	broad.mit.edu	37	1	27272172	27272172	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:27272172G>A	ENST00000321265.5	+	8	1062	c.939G>A	c.(937-939)ctG>ctA	p.L313L	NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	313					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AGGAGATTCTGAAGAAGTGAG	0.547000													8	124					0	0	0.006214	0	0
TBC1D31	93594	broad.mit.edu	37	8	124140671	124140671	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:124140671C>A	ENST00000287380.1	+	14	2125	c.2035C>A	c.(2035-2037)Caa>Aaa	p.Q679K	TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q574K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q679K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q556K|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q574K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q679K|TBC1D31_ENST00000518805.1_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AGTATTTAATCAATATCCAAA	0.358000													36	63					1.836e-18	1.97068e-18	0.003755	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105446691	105446691	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:105446691C>T	ENST00000258494.9	-	11	1446	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E436K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	436					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						ACCATGATTTCATTGACCTCC	0.363000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	55					0	0	0.004656	0	0
ATAD5	79915	broad.mit.edu	37	17	29220740	29220740	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:29220740G>A	ENST00000321990.4	+	21	5247	c.4869G>A	c.(4867-4869)aaG>aaA	p.K1623K		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1623					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CAGAGACAAAGAAATCTATTC	0.393000													61	101					0	0	0.014410	0	0
TCF3	6929	broad.mit.edu	37	19	1621849	1621849	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:1621849C>T	ENST00000262965.5	-	11	1287	c.943G>A	c.(943-945)Gac>Aac	p.D315N	TCF3_ENST00000453954.2_Missense_Mutation_p.D231N|TCF3_ENST00000395423.3_Missense_Mutation_p.D264N|TCF3_ENST00000344749.5_Missense_Mutation_p.D315N|TCF3_ENST00000588136.1_Missense_Mutation_p.D315N	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	315					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGGCTGTCGGCCCCGCTG	0.711000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								3	14					0	0	0.004672	0	0
LAG3	3902	broad.mit.edu	37	12	6887472	6887472	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6887472G>C	ENST00000203629.2	+	8	1827	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	498						integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTCAGAGCAAGATAGAGGAGC	0.632000													11	28					0	0	0.010729	0	0
CUX1	1523	broad.mit.edu	37	7	101813790	101813790	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:101813790C>G	ENST00000360264.3	+	10	841	c.821C>G	c.(820-822)tCc>tGc	p.S274C	CUX1_ENST00000425244.2_Missense_Mutation_p.S228C|CUX1_ENST00000556210.1_Missense_Mutation_p.S263C|CUX1_ENST00000549414.2_Missense_Mutation_p.S263C|CUX1_ENST00000547394.2_Missense_Mutation_p.S258C|CUX1_ENST00000393824.3_Missense_Mutation_p.S237C|CUX1_ENST00000550008.2_Missense_Mutation_p.S263C|CUX1_ENST00000437600.4_Missense_Mutation_p.S274C|CUX1_ENST00000292535.7_Missense_Mutation_p.S263C|CUX1_ENST00000292538.4_Missense_Mutation_p.S274C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.S263C	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAATCACTCCCTCCAGCTG	0.602000													2	7					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	75					0	0	0.006214	0	0
KIF24	347240	broad.mit.edu	37	9	34290296	34290296	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:34290296G>A	ENST00000379166.2	-	5	1122	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000402558.2_Silent_p.L335L	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	335	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTGGCAGCTAGAGCATACAAT	0.458000													60	51					0	0	0.014410	0	0
KCTD8	386617	broad.mit.edu	37	4	44176989	44176989	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:44176989G>C	ENST00000360029.3	-	2	1523	c.1240C>G	c.(1240-1242)Cag>Gag	p.Q414E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	414						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATGAGGGTCTGAAAGAGTTCA	0.428000										HNSCC(17;0.042)			77	247					0	0	0.014410	0	0
GPR110	266977	broad.mit.edu	37	6	46977266	46977266	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977266C>G	ENST00000371253.2	-	11	2120	c.1905G>C	c.(1903-1905)ttG>ttC	p.L635F	GPR110_ENST00000283297.5_Missense_Mutation_p.L438F|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCAGCAATCAAGAGGGACA	0.468000													8	40					0	0	0.003080	0	0
OR5A1	219982	broad.mit.edu	37	11	59211187	59211187	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:59211187C>T	ENST00000302030.2	+	1	571	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537000													73	251					0	0	0.014410	0	0
KPRP	448834	broad.mit.edu	37	1	152733229	152733229	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:152733229G>C	ENST00000368773.1	+	2	1223	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	KPRP_ENST00000606109.1_Missense_Mutation_p.D389H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	389	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGGCGTCTTGACCAGTGTCC	0.647000													15	31					0	0	0.004007	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327212	150327212	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:150327212C>G	ENST00000328902.5	-	2	235	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q	GIMAP6_ENST00000493969.1_Missense_Mutation_p.E7Q	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	7							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAATTTGTTCATATTCTTCT	0.428000													3	89					0	0	0.004672	0	0
PRRT3	285368	broad.mit.edu	37	3	9990498	9990498	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:9990498G>C	ENST00000412055.1	-	3	1244	c.1115C>G	c.(1114-1116)tCa>tGa	p.S372*	PRRT3_ENST00000411976.2_Nonsense_Mutation_p.S372*|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	372	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GCCAGGGTCTGAGGGACCAGG	0.642000													63	168					0	0	0.014410	0	0
TERF1	7013	broad.mit.edu	37	8	73942628	73942628	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:73942628G>A	ENST00000276603.5	+	7	968	c.945G>A	c.(943-945)ttG>ttA	p.L315L	TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	315	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TATCCTTATTGAGGTGAAGTA	0.318000													6	28					0	0	0.001984	0	0
TRAFD1	10906	broad.mit.edu	37	12	112590581	112590581	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:112590581G>A	ENST00000257604.5	+	12	2352	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	TRAFD1_ENST00000412615.2_Missense_Mutation_p.E579K	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	579	Poly-Glu.				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGCAGAAGAGGAAGAGGAGGA	0.493000													14	72					0	0	0.003163	0	0
CDKL5	6792	broad.mit.edu	37	X	18646649	18646649	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:18646649G>A	ENST00000379989.3	+	19	2940	c.2655G>A	c.(2653-2655)ggG>ggA	p.G885G	CDKL5_ENST00000379996.3_Silent_p.G885G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	885					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CCTCTGGCGGGAGCAGCAACA	0.592000													43	47					0	0	0.014410	0	0
KIAA1522	57648	broad.mit.edu	37	1	33234319	33234319	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234319G>C	ENST00000401073.2	+	4	599	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	KIAA1522_ENST00000373480.1_Missense_Mutation_p.E118Q|KIAA1522_ENST00000373481.3_Missense_Mutation_p.E129Q|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E118Q	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	118										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTACGTGGCTGAGAGCTCCAC	0.602000													5	30					0	0	0.001168	0	0
C12orf49	79794	broad.mit.edu	37	12	117175661	117175661	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:117175661C>G	ENST00000261318.3	-	1	205	c.45G>C	c.(43-45)aaG>aaC	p.K15N	C12orf49_ENST00000536380.1_Missense_Mutation_p.E38Q	NM_024738.1	NP_079014.1	Q9H741	CL049_HUMAN	chromosome 12 open reading frame 49	15						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		GCACCCACCTCTTCCGCAGAA	0.721000													12	24					0	0	0.002450	0	0
GPR110	266977	broad.mit.edu	37	6	46977338	46977338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977338C>T	ENST00000371253.2	-	11	2048	c.1833G>A	c.(1831-1833)tgG>tgA	p.W611*	GPR110_ENST00000283297.5_Nonsense_Mutation_p.W414*|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	611					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TAATCTGCTTCCAAAACAAAG	0.438000													12	53					0	0	0.013537	0	0
FSCB	84075	broad.mit.edu	37	14	44974621	44974621	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:44974621C>T	ENST00000340446.4	-	1	1861	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	524	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGCTGAATTTCAGCAGAGGCC	0.507000													5	35					0	0	0.000602	0	0
ETAA1	54465	broad.mit.edu	37	2	67630409	67630409	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:67630409G>C	ENST00000272342.5	+	5	725	c.595G>C	c.(595-597)Gat>Cat	p.D199H	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	199						cytoplasm|nucleus		p.D199H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TAAACAATTTGATAAAAATAT	0.259000													29	65					0	0	0.012213	0	0
DNAH8	1769	broad.mit.edu	37	6	38791364	38791364	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:38791364G>C	ENST00000359357.3	+	26	3350	c.3096G>C	c.(3094-3096)ctG>ctC	p.L1032L	DNAH8_ENST00000449981.2_Silent_p.L1249L|DNAH8_ENST00000441566.1_Silent_p.L1032L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCCCTCTCTGACTGAAATCA	0.318000													11	61					0	0	0.013537	0	0
OR2L3	391192	broad.mit.edu	37	1	248224207	248224207	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:248224207C>G	ENST00000359959.3	+	1	224	c.224C>G	c.(223-225)aCc>aGc	p.T75S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TACATCTCCACCATTGTTCCT	0.438000													48	274					0	0	0.014410	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19297418	19297418	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:19297418C>T	ENST00000454498.2	-	6	1889	c.876G>A	c.(874-876)ggG>ggA	p.G292G	CSGALNACT1_ENST00000311540.4_Silent_p.G292G|CSGALNACT1_ENST00000544602.1_Silent_p.G292G|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.G292G|CSGALNACT1_ENST00000332246.6_Silent_p.G292G	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	292					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GATGGACTCTCCCATCCTGCT	0.418000													17	36					0	0	0.008871	0	0
MIR520G	574484	broad.mit.edu	37	19	54225507	54225507	+	RNA	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:54225507G>A	ENST00000385064.1	+	0	88					NR_030206.1																						TTACCGTTTGGGAAAAGCAGT	0.393000													5	74					0	0	0.001168	0	0
CES2	8824	broad.mit.edu	37	16	66975679	66975679	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:66975679G>A	ENST00000317091.4	+	8	2241	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	CES2_ENST00000417689.1_Silent_p.R419R	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	355					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		AGGTCATGAGGATCTATGATA	0.572000													62	177					0	0	0.014410	0	0
CUL5	8065	broad.mit.edu	37	11	107975080	107975080	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:107975080C>G	ENST00000393094.2	+	19	2928	c.2312C>G	c.(2311-2313)tCt>tGt	p.S771C		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	771					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGAGATGAATCTGATATCAAC	0.308000													29	112					0	0	0.012213	0	0
USP33	23032	broad.mit.edu	37	1	78163136	78163136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:78163136C>T	ENST00000370793.1	-	25	3041	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	USP33_ENST00000370794.3_Missense_Mutation_p.E868K|USP33_ENST00000357428.1_Missense_Mutation_p.E899K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	899	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATGTTTCTTCAGAAATCTGG	0.388000													35	114					0	0	0.004289	0	0
CUBN	8029	broad.mit.edu	37	10	16957877	16957877	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:16957877G>A	ENST00000377833.4	-	46	7218	c.7153C>T	c.(7153-7155)Cag>Tag	p.Q2385*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2385	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGAATTCTGAAGGTTAAAG	0.413000													14	94					0	0	0.003163	0	0
SPTB	6710	broad.mit.edu	37	14	65259779	65259779	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:65259779C>G	ENST00000389722.3	-	13	2655	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	SPTB_ENST00000556626.1_Missense_Mutation_p.E868Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E868Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E868Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E868Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	868					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGCCACTTCTCCTTCTCTCCC	0.602000													19	44					0	0	0.008871	0	0
ITPR1	3708	broad.mit.edu	37	3	4699900	4699900	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:4699900C>G	ENST00000302640.8	+	12	1394	c.1044C>G	c.(1042-1044)gaC>gaG	p.D348E	ITPR1_ENST00000423119.2_Missense_Mutation_p.D363E|ITPR1_ENST00000443694.2_Missense_Mutation_p.D348E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D363E|ITPR1_ENST00000357086.4_Missense_Mutation_p.D363E|ITPR1_ENST00000456211.2_Missense_Mutation_p.D348E	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	363	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAGGCAATGACATCTCCTCCA	0.507000													18	64					0	0	0.010504	0	0
GPR110	266977	broad.mit.edu	37	6	46977149	46977149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977149C>T	ENST00000371253.2	-	11	2237	c.2022G>A	c.(2020-2022)tgG>tgA	p.W674*	GPR110_ENST00000283297.5_Nonsense_Mutation_p.W477*|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	674					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATGAGCATCCAGAAGAACA	0.498000													11	48					0	0	0.010729	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137420	40137420	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:40137420A>T	ENST00000278198.2	-	2	2386	c.423T>A	c.(421-423)aaT>aaA	p.N141K	LRRC4C_ENST00000527150.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N141K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	141					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAAAAGCTCCATTCGGGATGG	0.428000													20	62					0	0	0.012319	0	0
KCNIP4	80333	broad.mit.edu	37	4	20884280	20884280	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:20884280C>G	ENST00000382152.2	-	2	281	c.114G>C	c.(112-114)atG>atC	p.M38I	KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	38	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCAAGAGCTTCATGAGCCGCT	0.433000													17	40					0	0	0.007413	0	0
DHX8	1659	broad.mit.edu	37	17	41599574	41599574	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:41599574C>T	ENST00000262415.3	+	22	3495	c.3423C>T	c.(3421-3423)ctC>ctT	p.L1141L	DHX8_ENST00000540306.1_Silent_p.L1141L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1141						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCAGTGCCCTCTTCAACAGAC	0.512000													14	57					0	0	0.003163	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98512551	98512551	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:98512551C>G	ENST00000265261.6	+	10	1010	c.588C>G	c.(586-588)ctC>ctG	p.L196L	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Silent_p.L314L|ST3GAL6_ENST00000394162.1_Silent_p.L314L	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	314					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAGAGCAGCTCTTTTTGAAGG	0.353000													36	107					0	0	0.006230	0	0
CETN3	1070	broad.mit.edu	37	5	89705476	89705476	+	Translation_Start_Site	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:89705476C>T	ENST00000283122.3	-	1	127	c.3G>A	c.(1-3)atG>atA	p.M1I	CETN3_ENST00000522864.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522842.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522083.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522565.1_Start_Codon_SNP_p.M1I	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	1					cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GAGCTAAACTCATTATCTCTT	0.582000													38	114					0	0	0.011902	0	0
UBE4A	9354	broad.mit.edu	37	11	118239345	118239345	+	Splice_Site	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:118239345G>C	ENST00000252108.3	+	3	252		c.e3-1		UBE4A_ENST00000431736.2_Splice_Site	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTTTCTGGCAGATGAACTCCC	0.413000													87	249					0	0	0.014410	0	0
TOP2A	7153	broad.mit.edu	37	17	38567942	38567942	+	Silent	SNP	T	T	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					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)	GCTGAAAGCCTTTTTCACTCA	0.318000													3	93					0	0	0.000602	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073674	73073674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:73073674G>A	ENST00000263674.3	+	14	5241	c.4891G>A	c.(4891-4893)Gag>Aag	p.E1631K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1631					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCCCCGCCCAGAGCTGGTGCC	0.687000													17	35					0	0	0.004990	0	0
SHC2	25759	broad.mit.edu	37	19	422154	422154	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:422154C>T	ENST00000264554.6	-	11	1611	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	538	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACGCCCTCGGGGTCCACG	0.687000													5	10					0	0	0.001168	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100194	102100194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:102100194C>A	ENST00000292566.3	-	2	217	c.178G>T	c.(178-180)Gag>Tag	p.E60*		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	60						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						AAGTCAGACTCCTCTGTGCCC	0.572000													13	77					1.49906e-05	1.54429e-05	0.002450	1	0
ISG20	3669	broad.mit.edu	37	15	89195491	89195491	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:89195491C>T	ENST00000306072.5	+	3	737	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	ISG20_ENST00000560741.1_Missense_Mutation_p.R127C|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	127					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CCACTGCAGGCGTGTCTCCCT	0.617000													9	76					0	0	0.006214	0	0
PTDSS2	81490	broad.mit.edu	37	11	479110	479110	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:479110G>C	ENST00000308020.5	+	4	569	c.393G>C	c.(391-393)gtG>gtC	p.V131V	PTDSS2_ENST00000530087.1_3'UTR	NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	131						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GGCTCTGCGTGAGTGTGGTCT	0.567000													60	236					0	0	0.014410	0	0
ZNF615	284370	broad.mit.edu	37	19	52497896	52497896	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:52497896T>A	ENST00000602063.1	-	6	782	c.433A>T	c.(433-435)Aac>Tac	p.N145Y	ZNF615_ENST00000376716.5_Missense_Mutation_p.N145Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.N156Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.N150Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.N156Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTTTCTGGTTTTCAAAACTT	0.318000													8	87					0	0	0.003080	0	0
NOL8	55035	broad.mit.edu	37	9	95077919	95077919	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:95077919C>T	ENST00000545558.1	-	7	1480	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	NOL8_ENST00000358855.4_Missense_Mutation_p.E262K|NOL8_ENST00000542053.1_Missense_Mutation_p.E262K|NOL8_ENST00000535387.1_Missense_Mutation_p.E330K|NOL8_ENST00000442668.2_Missense_Mutation_p.E330K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	330					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGATCACTTTCAGATTCATTT	0.353000													21	35					0	0	0.008871	0	0
APOLD1	81575	broad.mit.edu	37	12	12940238	12940238	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:12940238G>A	ENST00000356591.4	+	2	484	c.399G>A	c.(397-399)gaG>gaA	p.E133E	RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.E164E	NM_030817.2	NP_110444.3	Q96LR9	APLD1_HUMAN	apolipoprotein L domain containing 1	164					angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process	extracellular region|integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	5		Prostate(47;0.0632)		BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149)		AGATGCGAGAGATCCTGAGCT	0.642000													40	99					0	0	0.009718	0	0
MYO7A	4647	broad.mit.edu	37	11	76891443	76891443	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:76891443G>C	ENST00000409709.3	+	22	2882	c.2610G>C	c.(2608-2610)gaG>gaC	p.E870D	MYO7A_ENST00000409893.1_Missense_Mutation_p.E870D|MYO7A_ENST00000458637.2_Missense_Mutation_p.E870D|MYO7A_ENST00000409619.2_Missense_Mutation_p.E859D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	870					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCGAGGCTGAGAAAATGCGGC	0.597000													12	23					0	0	0.002450	0	0
KIAA1522	57648	broad.mit.edu	37	1	33234274	33234274	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:33234274G>A	ENST00000401073.2	+	4	554	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	KIAA1522_ENST00000373480.1_Missense_Mutation_p.E103K|KIAA1522_ENST00000373481.3_Missense_Mutation_p.E114K|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E103K	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	103										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGGGCCGGATGAAGACAACAT	0.562000													11	49					0	0	0.010729	0	0
RSAD2	91543	broad.mit.edu	37	2	7023543	7023543	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:7023543C>G	ENST00000382040.3	+	2	524	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	RSAD2_ENST00000541728.1_Missense_Mutation_p.Q23E	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	130					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GCCATTTCTTCAAGACCGGGG	0.453000													12	88					0	0	0.013537	0	0
TM9SF2	9375	broad.mit.edu	37	13	100204467	100204467	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:100204467G>A	ENST00000376387.4	+	13	1565	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	459					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CCTCTGGGGAGAAGGATCTTC	0.423000													22	132					0	0	0.014323	0	0
KPNA2	3838	broad.mit.edu	37	17	66033573	66033573	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:66033573G>A	ENST00000537025.2	+	3	795	c.175G>A	c.(175-177)Gat>Aat	p.D59N	KPNA2_ENST00000330459.3_Missense_Mutation_p.D59N			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	59	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTTCCTGATGATGCTACTTC	0.423000													65	78					0	0	0.014410	0	0
PDCD7	10081	broad.mit.edu	37	15	65412134	65412134	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:65412134C>G	ENST00000204549.4	-	3	1222	c.1168G>C	c.(1168-1170)Gaa>Caa	p.E390Q		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	390					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						tgtttcttttctaattctctt	0.373000													12	55					0	0	0.010729	0	0
AHNAK	79026	broad.mit.edu	37	11	62286867	62286867	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:62286867C>G	ENST00000378024.4	-	5	15296	c.15022G>C	c.(15022-15024)Gag>Cag	p.E5008Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5008					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGAGTCTCAAGGTTCAGC	0.423000													58	147					0	0	0.014410	0	0
G3BP1	10146	broad.mit.edu	37	5	151169928	151169928	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:151169928C>G	ENST00000394123.3	+	3	285	c.140C>G	c.(139-141)tCa>tGa	p.S47*	G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.S47*			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	47	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGATTGGATTCAAATGGAAAG	0.343000													6	30					0	0	0.003080	0	0
C17orf75	64149	broad.mit.edu	37	17	30661853	30661853	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:30661853C>G	ENST00000577809.1	-	7	724	c.675G>C	c.(673-675)ttG>ttC	p.L225F	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	225					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTGTAACTCAAAGCCTATG	0.363000													10	21					0	0	0.013537	0	0
MAP2K3	5606	broad.mit.edu	37	17	21208407	21208407	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:21208407C>T	ENST00000342679.4	+	9	990	c.741C>T	c.(739-741)gtC>gtT	p.V247V	MAP2K3_ENST00000361818.5_Silent_p.V218V|MAP2K3_ENST00000316920.6_Silent_p.V218V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	247	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCTACAATGTCAAGTCCGACG	0.647000													25	125					0	0	0.008361	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362077	98362077	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:98362077C>G	ENST00000339364.5	-	16	2439	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E373Q|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E596Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	774	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GGGGGTCTCTCGAGGGACATG	0.507000													26	40					0	0	0.007291	0	0
NCDN	23154	broad.mit.edu	37	1	36024783	36024783	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:36024783G>A	ENST00000373243.2	+	2	492	c.109G>A	c.(109-111)Gag>Aag	p.E37K	NCDN_ENST00000373253.3_Missense_Mutation_p.E20K|NCDN_ENST00000356090.4_Missense_Mutation_p.E37K|NCDN_ENST00000459931.1_3'UTR	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	37					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCCACCCTGGAGCGCTACCT	0.597000													21	78					0	0	0.003330	0	0
ADRB1	153	broad.mit.edu	37	10	115804636	115804636	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:115804636C>T	ENST00000369295.2	+	1	831	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	249					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCGGGTGTTCCGCGAGGCCCA	0.687000													10	22					0	0	0.002450	0	0
ATP2B2	491	broad.mit.edu	37	3	10392202	10392202	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:10392202G>A	ENST00000397077.1	-	14	2636	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632000													26	72					0	0	0.007291	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983123	12983123	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:12983123G>C	ENST00000273221.4	-	2	524	c.308C>G	c.(307-309)tCa>tGa	p.S103*	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	103					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGTGAGCGTGAGCGCTTGAT	0.662000													5	22					0	0	0.001168	0	0
VPS41	27072	broad.mit.edu	37	7	38785177	38785177	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:38785177C>G	ENST00000310301.4	-	23	2017	c.1963G>C	c.(1963-1965)Gag>Cag	p.E655Q	VPS41_ENST00000395969.2_Missense_Mutation_p.E630Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	655					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TAAACTGTCTCTTCTACAAAG	0.338000													45	154					0	0	0.014410	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593559	45593559	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:45593559C>T	ENST00000270257.4	+	3	434	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586556.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	63					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AGCCGCCCTTCGGGAGCGTTA	0.632000													4	57					0	0	0.001168	0	0
ZACN	353174	broad.mit.edu	37	17	74077658	74077658	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74077658C>G	ENST00000334586.5	+	7	785	c.702C>G	c.(700-702)atC>atG	p.I234M	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	234	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TCAAGTCCATCATCGCTCTCT	0.642000													4	175					0	0	0.001168	0	0
GPR110	266977	broad.mit.edu	37	6	46977742	46977742	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977742C>T	ENST00000371253.2	-	11	1644	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	GPR110_ENST00000283297.5_Missense_Mutation_p.E280K|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	477					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATAATAGTTTCTGGAAGGGAT	0.443000													22	77					0	0	0.014323	0	0
STRA6	64220	broad.mit.edu	37	15	74477352	74477352	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:74477352G>C	ENST00000323940.5	-	13	1380	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	STRA6_ENST00000416286.3_Missense_Mutation_p.L371V|STRA6_ENST00000574278.1_Missense_Mutation_p.L394V|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.L418V|STRA6_ENST00000535552.1_Missense_Mutation_p.L416V|STRA6_ENST00000449139.2_Missense_Mutation_p.L379V|STRA6_ENST00000395105.4_Missense_Mutation_p.L379V|STRA6_ENST00000423167.2_Missense_Mutation_p.L370V	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	379					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ATCAGGACCAGGAAGGTGAGT	0.597000													10	36					0	0	0.013537	0	0
YY1AP1	55249	broad.mit.edu	37	1	155629559	155629559	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:155629559C>T	ENST00000368340.5	-	10	2604	c.2496G>A	c.(2494-2496)ccG>ccA	p.P832P	YY1AP1_ENST00000535662.1_Silent_p.P560P|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.P703P|YY1AP1_ENST00000404643.1_Silent_p.P694P|YY1AP1_ENST00000407221.1_Silent_p.P683P|YY1AP1_ENST00000361831.5_Silent_p.P703P|YY1AP1_ENST00000368330.2_Silent_p.P714P|YY1AP1_ENST00000368339.5_Silent_p.P852P|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Silent_p.P714P|YY1AP1_ENST00000311573.5_Silent_p.P683P|YY1AP1_ENST00000295566.4_Silent_p.P760P|YY1AP1_ENST00000355499.4_Silent_p.P714P	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTGAGGGAGCGGCTCCAGAG	0.512000													25	105					0	0	0.003330	0	0
EPHA2	1969	broad.mit.edu	37	1	16461683	16461683	+	Splice_Site	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:16461683C>G	ENST00000358432.5	-	7	1584	c.1428_splice	c.e7-1	p.G477_splice		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	477	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GTTGGAGTCTCCCTGTGGGTG	0.677000													66	144					0	0	0.014410	0	0
GNB1	2782	broad.mit.edu	37	1	1721851	1721851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:1721851C>T	ENST00000378609.4	-	9	1013	c.682G>A	c.(682-684)Gac>Aac	p.D228N		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	228					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCATTGATGTCAGACTCGTGG	0.532000													6	93					0	0	0.001984	0	0
PHRF1	57661	broad.mit.edu	37	11	605232	605232	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:605232G>A	ENST00000264555.5	+	11	1394	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PHRF1_ENST00000533464.1_Silent_p.L418L|PHRF1_ENST00000416188.2_Silent_p.L422L|PHRF1_ENST00000413872.2_Silent_p.L421L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	422							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGGGGCTGCTGAGAGCGGATA	0.597000													33	95					0	0	0.012213	0	0
TP63	8626	broad.mit.edu	37	3	189582183	189582183	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:189582183G>A	ENST00000264731.3	+	5	831	c.742G>A	c.(742-744)Gag>Aag	p.E248K	TP63_ENST00000320472.5_Missense_Mutation_p.E248K|TP63_ENST00000392461.3_Missense_Mutation_p.E154K|TP63_ENST00000392460.3_Missense_Mutation_p.E248K|TP63_ENST00000392463.2_Missense_Mutation_p.E154K|TP63_ENST00000437221.1_Missense_Mutation_p.E154K|TP63_ENST00000440651.2_Missense_Mutation_p.E248K|TP63_ENST00000354600.5_Missense_Mutation_p.E154K|TP63_ENST00000418709.2_Missense_Mutation_p.E248K|TP63_ENST00000456148.1_Missense_Mutation_p.E154K|TP63_ENST00000449992.1_Missense_Mutation_p.E69K|TP63_ENST00000382063.4_Missense_Mutation_p.E163K	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	248					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCCAACCATGAGCTGAGCCG	0.517000										HNSCC(45;0.13)			25	64					0	0	0.003954	0	0
TGM2	7052	broad.mit.edu	37	20	36789876	36789876	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:36789876C>T	ENST00000361475.2	-	2	309	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Missense_Mutation_p.E46K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	46					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TTGCGGCCCTCAAAGTGCAGG	0.642000													9	72					0	0	0.006214	0	0
CACNB2	783	broad.mit.edu	37	10	18827162	18827162	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:18827162C>G	ENST00000396576.2	+	12	1692	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	CACNB2_ENST00000377329.4_Missense_Mutation_p.H398Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H359Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.H428Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.H202Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.H404Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.H452Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H424Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.H400Q	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	452					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTGTGAGCACCTTGCCGACT	0.552000													47	134					0	0	0.014410	0	0
STRN4	29888	broad.mit.edu	37	19	47226133	47226133	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:47226133C>T	ENST00000391910.3	-	14	2311	c.1861G>A	c.(1861-1863)Gac>Aac	p.D621N	STRN4_ENST00000263280.6_Missense_Mutation_p.D614N|STRN4_ENST00000539396.1_Missense_Mutation_p.D495N			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	614						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AAGACGGTGTCGCCAGAGCGG	0.637000													29	99					0	0	0.012213	0	0
DNM3	26052	broad.mit.edu	37	1	172348233	172348233	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:172348233C>T	ENST00000358155.4	+	18	2145	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	DNM3_ENST00000355305.5_Missense_Mutation_p.R663C|DNM3_ENST00000367731.1_Missense_Mutation_p.R653C	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	663					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGACCATTCGCAACCTCGT	0.383000													7	35					0	0	0.001984	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535910	69535910	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:69535910C>T	ENST00000338206.5	-	1	436	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	143					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AACTTTGACTCTTGTAGTTTC	0.363000													95	271					0	0	0.014410	0	0
ZNF343	79175	broad.mit.edu	37	20	2474452	2474452	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:2474452C>T	ENST00000278772.4	-	3	577	c.90G>A	c.(88-90)aaG>aaA	p.K30K	ZNF343_ENST00000358413.2_Silent_p.K30K|RP4-734P14.4_ENST00000461548.1_Silent_p.K30K|ZNF343_ENST00000381253.1_Silent_p.K30K	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GGGTCAATTTCTTCATAGTCT	0.458000													35	154					0	0	0.003271	0	0
LINGO1	84894	broad.mit.edu	37	15	77907918	77907918	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:77907918C>A	ENST00000355300.6	-	2	505	c.331G>T	c.(331-333)Gag>Tag	p.E111*	LINGO1_ENST00000561030.1_Nonsense_Mutation_p.E105*	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	111					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGCCGGGCTCCACGGCGCTC	0.617000													6	10					5.9392e-07	6.18954e-07	0.001168	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41613186	41613186	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41613186C>T	ENST00000216237.5	+	5	738	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	194					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAAGGCTGCTCCCGTCAGCTG	0.632000													25	54					0	0	0.003330	0	0
CSMD1	64478	broad.mit.edu	37	8	2823375	2823375	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:2823375C>A	ENST00000520002.1	-	60	9760	c.9205G>T	c.(9205-9207)Gtc>Ttc	p.V3069F	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3068F|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3069F|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3069	Sushi 24.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCATGACATAGCCTGGG	0.493000													9	6					2.17888e-05	2.2414e-05	0.006214	1	0
GJA3	2700	broad.mit.edu	37	13	20716765	20716765	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr13:20716765C>G	ENST00000241125.3	-	2	839	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	221					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGTGGTAGATCTCCAGCATGT	0.662000													4	23					0	0	0.000602	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235099	57235099	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:57235099C>G	ENST00000335099.3	+	2	366	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	RTN4RL2_ENST00000533205.1_Missense_Mutation_p.L17V|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L17V	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	17					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCGGCCTGCCTCCTGCTGAT	0.677000													32	105					0	0	0.012213	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			43	59					0	0	0.009718	0	0
ASMTL	8623	broad.mit.edu	37	X	1546743	1546743	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chrX:1546743C>T	ENST00000534940.1	-	7	832	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.E261K|ASMTL_ENST00000416733.2_Missense_Mutation_p.E185K|ASMTL_ENST00000381333.4_Missense_Mutation_p.E245K	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	261	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				TCTCCCGCCTCGGCCTTCTCA	0.697000													7	57					0	0	0.008291	0	0
EBF3	253738	broad.mit.edu	37	10	131640406	131640406	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:131640406G>A	ENST00000368648.3	-	13	1391	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	EBF3_ENST00000355311.5_Missense_Mutation_p.S449L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	449					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGACGTCTCTGACACGTTGAC	0.612000													35	92					0	0	0.006999	0	0
ZC3H8	84524	broad.mit.edu	37	2	112989456	112989456	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr2:112989456G>A	ENST00000409573.1	-	7	931	c.802C>T	c.(802-804)Cat>Tat	p.H268Y	ZC3H8_ENST00000272570.5_Missense_Mutation_p.H268Y|ZC3H8_ENST00000476902.1_5'UTR			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	268					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGTGGAGCATGAGAAAACTTG	0.303000													20	81					0	0	0.012319	0	0
SLC36A2	153201	broad.mit.edu	37	5	150723127	150723127	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:150723127G>A	ENST00000335244.4	-	3	417	c.288C>T	c.(286-288)ttC>ttT	p.F96F	SLC36A2_ENST00000521967.1_Silent_p.F96F	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	96					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCAGGCAATGAAGCCCATCA	0.527000													31	109					0	0	0.010818	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102116	20102116	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:20102116G>C	ENST00000252136.7	-	7	1602	c.1214C>G	c.(1213-1215)tCt>tGt	p.S405C	TRMT2A_ENST00000404751.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000403707.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.S405C	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	405					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GGCGTGTGGAGAGATCCGGAA	0.632000													21	98					0	0	0.002780	0	0
KNTC1	9735	broad.mit.edu	37	12	123014683	123014683	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:123014683G>C	ENST00000333479.7	+	2	250	c.73G>C	c.(73-75)Gaa>Caa	p.E25Q	KNTC1_ENST00000450485.2_Missense_Mutation_p.E25Q	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	25					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAAGAAAAGAACATGGAAC	0.383000													34	113					0	0	0.013726	0	0
CASP5	838	broad.mit.edu	37	11	104871152	104871152	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:104871152A>T	ENST00000393141.2	-	6	858	c.827T>A	c.(826-828)gTa>gAa	p.V276E	CASP5_ENST00000526056.1_Missense_Mutation_p.V276E|CASP5_ENST00000444749.2_Missense_Mutation_p.V205E|CASP5_ENST00000531367.1_Missense_Mutation_p.V121E|CASP5_ENST00000418434.1_Missense_Mutation_p.V121E|CASP5_ENST00000260315.3_Missense_Mutation_p.V263E|CASP5_ENST00000393139.2_3'UTR	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	263					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		AGACATGAGTACCAAGAACGT	0.458000													22	81					0	0	0.003330	0	0
KCNT2	343450	broad.mit.edu	37	1	196395022	196395022	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:196395022G>C	ENST00000367433.5	-	11	1182	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	KCNT2_ENST00000294725.8_Missense_Mutation_p.Q361E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q361E			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	361						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGAACCTTGAAGGTAGATA	0.403000													29	59					0	0	0.009535	0	0
KRT2	3849	broad.mit.edu	37	12	53045411	53045411	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:53045411C>G	ENST00000309680.3	-	1	537	c.516G>C	c.(514-516)caG>caC	p.Q172H		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	172	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CCTTCACATTCTGGATCTCTG	0.527000													41	136					0	0	0.009718	0	0
NUCB2	4925	broad.mit.edu	37	11	17333590	17333590	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:17333590G>C	ENST00000529010.1	+	10	1054	c.835G>C	c.(835-837)Gac>Cac	p.D279H	NUCB2_ENST00000323688.6_Missense_Mutation_p.D279H|NUCB2_ENST00000458064.2_Missense_Mutation_p.D279H	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	279	Binds to necdin (By similarity).					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTATATGACCCTAAAAA	0.299000													10	133					0	0	0.008291	0	0
ANKS1A	23294	broad.mit.edu	37	6	35027938	35027938	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:35027938G>A	ENST00000360359.3	+	13	2230	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	698	SAM 1.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACGGACGCTGGAGCAGAGTGT	0.527000													6	17					0	0	0.003080	0	0
FCGBP	8857	broad.mit.edu	37	19	40368869	40368869	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:40368869C>T	ENST00000221347.6	-	28	12486	c.12479G>A	c.(12478-12480)gGt>gAt	p.G4160D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4160	VWFD 10.					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)			TGTGAGCACACCGTTCACCTG	0.637000													25	217					0	0	0.010818	0	0
KLHL38	340359	broad.mit.edu	37	8	124664436	124664436	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:124664436G>A	ENST00000325995.7	-	1	754	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	244										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGCAGGCGAGGACTGCAGGAG	0.552000													19	80					0	0	0.010504	0	0
PARP8	79668	broad.mit.edu	37	5	50091070	50091070	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:50091070G>C	ENST00000281631.5	+	12	1405	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.R169T|PARP8_ENST00000505697.2_Missense_Mutation_p.R416T|PARP8_ENST00000514067.2_Missense_Mutation_p.R416T|PARP8_ENST00000503750.2_Missense_Mutation_p.R416T|PARP8_ENST00000505554.1_Missense_Mutation_p.R395T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	416						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGTAATCTCAGAATGGAAGAA	0.418000													12	76					0	0	0.010729	0	0
TPM3	7170	broad.mit.edu	37	1	154144523	154144523	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:154144523C>G	ENST00000368533.3	-	5	565	c.513G>C	c.(511-513)ctG>ctC	p.L171L	TPM3_ENST00000302206.5_Intron|TPM3_ENST00000368530.2_Intron|TPM3_ENST00000341485.5_Silent_p.L155L|TPM3_ENST00000271850.7_Silent_p.L208L|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000328159.4_Silent_p.L171L|TPM3_ENST00000368531.2_Silent_p.L171L|TPM3_ENST00000341372.3_Silent_p.L146L|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	207					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CAGCAGCACTCAGACACTTCA	0.473000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								44	329					0	0	0.014410	0	0
CNTLN	54875	broad.mit.edu	37	9	17143343	17143343	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:17143343C>G	ENST00000380647.3	+	2	502	c.418C>G	c.(418-420)Ctc>Gtc	p.L140V	CNTLN_ENST00000262360.5_Missense_Mutation_p.L140V|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.L140V|CNTLN_ENST00000425824.1_Missense_Mutation_p.L140V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	140						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAACCCAGATCTCACACAAGT	0.348000													5	178					0	0	0.001168	0	0
GGT3P	2679	broad.mit.edu	37	22	18769234	18769234	+	RNA	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:18769234C>G	ENST00000412448.1	-	0	1052																											TCCCGAAGCACCTTTCTATCC	0.647000													4	20					0	0	0.003080	0	0
GPR110	266977	broad.mit.edu	37	6	46977208	46977208	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977208C>T	ENST00000371253.2	-	11	2178	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	GPR110_ENST00000283297.5_Missense_Mutation_p.G458R|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	655					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGCAGACTCCAGAAGGGTTC	0.498000													7	33					0	0	0.003080	0	0
DOCK1	1793	broad.mit.edu	37	10	129207596	129207596	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr10:129207596G>A	ENST00000280333.6	+	42	4330	c.4221G>A	c.(4219-4221)gtG>gtA	p.V1407V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1407	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCTTCACAGTGAAGCCCAAAC	0.493000													12	95					0	0	0.002450	0	0
GANC	2595	broad.mit.edu	37	15	42632913	42632913	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:42632913G>A	ENST00000318010.8	+	18	2353	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	705					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTCCCTGATGAACTAAAGAC	0.343000													23	71					0	0	0.003330	0	0
DSCAM	1826	broad.mit.edu	37	21	41684117	41684117	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr21:41684117C>G	ENST00000400454.1	-	9	2430	c.1953G>C	c.(1951-1953)acG>acC	p.T651T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	651	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAGGAGCTCGTGAAGTCAA	0.547000													20	78					0	0	0.012319	0	0
BRD8	10902	broad.mit.edu	37	5	137497522	137497522	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:137497522C>T	ENST00000254900.5	-	17	2583	c.2212G>A	c.(2212-2214)Gat>Aat	p.D738N	BRD8_ENST00000411594.2_Missense_Mutation_p.D741N|BRD8_ENST00000230901.5_Missense_Mutation_p.D811N|BRD8_ENST00000402931.1_Missense_Mutation_p.D738N|BRD8_ENST00000455658.2_Missense_Mutation_p.D697N|BRD8_ENST00000515014.1_5'UTR	NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	738	Bromo 1.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGTCATCTGTAACAGGC	0.463000													16	65					0	0	0.004990	0	0
GALR2	8811	broad.mit.edu	37	17	74071276	74071276	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr17:74071276C>T	ENST00000329003.3	+	1	402	c.312C>T	c.(310-312)ctC>ctT	p.L104L		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	104					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGCACTTCCTCATCTTCCTCA	0.647000													14	70					0	0	0.002450	0	0
C12orf39	80763	broad.mit.edu	37	12	21680692	21680692	+	Silent	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:21680692G>C	ENST00000256969.2	+	4	343	c.177G>C	c.(175-177)cgG>cgC	p.R59R		NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	59						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACCAGAGCCGGAGAAAGGACC	0.647000													4	10					0	0	0.009096	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40257961	40257961	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:40257961G>C	ENST00000263791.5	+	8	977	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E312Q|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E312Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	312	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTGTTGTATGAGTGGGTCCT	0.408000													16	63					0	0	0.006122	0	0
NCALD	83988	broad.mit.edu	37	8	102701558	102701558	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:102701558C>T	ENST00000395923.1	-	6	1020	c.561G>A	c.(559-561)ccG>ccA	p.P187P	NCALD_ENST00000521599.1_Silent_p.P187P|NCALD_ENST00000220931.6_Silent_p.P187P|NCALD_ENST00000311028.3_Silent_p.P187P|NCALD_ENST00000519508.2_Silent_p.P187P|NCALD_ENST00000522951.1_Intron	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	187					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			CGGCACTGCTCGGGTCGCACT	0.502000													5	27					0	0	0.000602	0	0
RABEPK	10244	broad.mit.edu	37	9	127990317	127990317	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:127990317G>A	ENST00000373538.3	+	6	965	c.655G>A	c.(655-657)Gac>Aac	p.D219N	RABEPK_ENST00000259460.8_Missense_Mutation_p.D168N|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.D219N	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	219					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ATTCTATGATGACCTCCACTG	0.443000													13	26					0	0	0.013537	0	0
GPR110	266977	broad.mit.edu	37	6	46977656	46977656	+	Silent	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:46977656C>G	ENST00000371253.2	-	11	1730	c.1515G>C	c.(1513-1515)gtG>gtC	p.V505V	GPR110_ENST00000283297.5_Silent_p.V308V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	505					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCGTGGATATCACAGGTCCAT	0.408000													20	82					0	0	0.002780	0	0
RASGRP2	10235	broad.mit.edu	37	11	64510267	64510267	+	Splice_Site	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64510267G>A	ENST00000377494.1	-	1	994	c.73_splice	c.e1+1	p.F24_splice	RASGRP2_ENST00000377489.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000354024.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000377487.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394432.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394430.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000377497.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394429.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000377486.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394428.1_Splice_Site_p.F24_splice			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	24	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCACTCACCGAAGGCTTCGA	0.726000													4	18					0	0	0.009096	0	0
TRERF1	55809	broad.mit.edu	37	6	42227372	42227372	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr6:42227372C>T	ENST00000541110.1	-	9	2602	c.2034G>A	c.(2032-2034)ccG>ccA	p.P678P	TRERF1_ENST00000372917.4_Silent_p.P575P|TRERF1_ENST00000372922.4_Silent_p.P658P|TRERF1_ENST00000340840.2_Silent_p.P575P|TRERF1_ENST00000354325.2_Silent_p.P575P			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	658	Interacts with CREBBP.|Pro-rich.				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)			AGAGAGGTTCCGGCCGGTGCC	0.652000													21	66					0	0	0.010504	0	0
CRTAP	10491	broad.mit.edu	37	3	33155701	33155701	+	Silent	SNP	C	C	T	rs114946269	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr3:33155701C>T	ENST00000320954.6	+	1	231	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CRTAP_ENST00000449224.1_Silent_p.L44L	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	44						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGATGCCGCTCGAGTCGGCCT	0.697000													6	22					0	0	0.001984	0	0
RPUSD1	113000	broad.mit.edu	37	16	836894	836894	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:836894G>A	ENST00000565809.1	-	4	463	c.341C>T	c.(340-342)tCg>tTg	p.S114L	RPUSD1_ENST00000561734.1_Silent_p.L148L|RPUSD1_ENST00000007264.2_Silent_p.L148L|RPUSD1_ENST00000567114.1_Silent_p.L19L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	113					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCAGAACCACGAGATCTGTGA	0.632000													31	95					0	0	0.010818	0	0
POLR3H	171568	broad.mit.edu	37	22	41925317	41925317	+	Silent	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:41925317C>T	ENST00000355209.4	-	6	928	c.585G>A	c.(583-585)ctG>ctA	p.L195L	POLR3H_ENST00000396504.2_Silent_p.L195L|POLR3H_ENST00000337566.5_Silent_p.L166L|POLR3H_ENST00000407461.1_Silent_p.L195L	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	195					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AGAGAAGGCCCAGGCCTGGCT	0.597000													9	34					0	0	0.008291	0	0
UBA6	55236	broad.mit.edu	37	4	68514899	68514899	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:68514899G>A	ENST00000322244.4	-	14	1194	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	379					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTCCAAGAGAGCCAATGCACA	0.398000													12	49					0	0	0.013537	0	0
CCDC135	84229	broad.mit.edu	37	16	57761225	57761225	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:57761225G>A	ENST00000360716.3	+	16	2321	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC135_ENST00000336825.8_Silent_p.L635L|CCDC135_ENST00000394337.4_Silent_p.L700L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	700						cytoplasm		p.L700L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGATTCTGAAGCTTCGAG	0.552000													44	111					0	0	0.014410	0	0
EIF3G	8666	broad.mit.edu	37	19	10226446	10226446	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr19:10226446C>G	ENST00000253108.4	-	9	796	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	252	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGGTCGGTCTCACGCGTGTCC	0.637000													44	87					0	0	0.014410	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691787	30691787	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:30691787C>T	ENST00000215790.7	-	4	627	c.463G>A	c.(463-465)Gag>Aag	p.E155K	RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.E29K|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.E67K|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E162K	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	155	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTCACGCTCAATCACGTCC	0.617000													9	48					0	0	0.013537	0	0
SKP2	6502	broad.mit.edu	37	5	36181975	36181975	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr5:36181975G>C	ENST00000274255.6	+	10	1313	c.1117G>C	c.(1117-1119)Gat>Cat	p.D373H	SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.D159H|SKP2_ENST00000508514.1_Missense_Mutation_p.D166H	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	373					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCGTGCCAGATGGTACCCT	0.403000													65	159					0	0	0.014410	0	0
MCM4	4173	broad.mit.edu	37	8	48883280	48883280	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:48883280G>A	ENST00000262105.2	+	11	1853	c.1644G>A	c.(1642-1644)atG>atA	p.M548I	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.M548I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	548	MCM.				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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGTACGTAATGAAAGACCCTG	0.552000													14	41					0	0	0.001855	0	0
NIPAL2	79815	broad.mit.edu	37	8	99215352	99215352	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:99215352G>C	ENST00000341166.3	-	8	1119	c.864C>G	c.(862-864)atC>atG	p.I288M	NIPAL2_ENST00000430223.2_Missense_Mutation_p.I288M|NIPAL2_ENST00000520545.1_5'UTR	NM_024759.1	NP_079035.1	Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	288						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						TGATGGCACTGATTGTAAAGA	0.398000													23	38					0	0	0.014323	0	0
VWF	7450	broad.mit.edu	37	12	6103365	6103365	+	Silent	SNP	G	G	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr12:6103365G>T	ENST00000261405.5	-	37	6515	c.6261C>A	c.(6259-6261)atC>atA	p.I2087I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2087	VWFD 4.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTCATCACAGATCCCTAGAG	0.478000													14	42					2.61681e-11	2.76734e-11	0.002450	1	0
ESRRA	2101	broad.mit.edu	37	11	64082296	64082296	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:64082296G>A	ENST00000405666.1	+	5	889	c.655G>A	c.(655-657)Gat>Aat	p.D219N	ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N			P11474	ERR1_HUMAN	estrogen-related receptor alpha	219	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCAGGCCCTGATGGGCACCT	0.587000													12	59					0	0	0.013537	0	0
EPHA5	2044	broad.mit.edu	37	4	66217204	66217204	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:66217204C>T	ENST00000273854.3	-	14	3011	c.2411G>A	c.(2410-2412)aGa>aAa	p.R804K	EPHA5_ENST00000354839.4_Missense_Mutation_p.R782K|EPHA5_ENST00000511294.1_Missense_Mutation_p.R805K|EPHA5_ENST00000432638.2_Missense_Mutation_p.R641K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	804	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TAAGATGTTTCTGGCAGCAAG	0.473000										TSP Lung(17;0.13)			18	65					0	0	0.006122	0	0
FKBP15	23307	broad.mit.edu	37	9	115952852	115952852	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:115952852C>T	ENST00000238256.3	-	12	1189	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	358					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGACTGCATCGGGACTCTAA	0.458000													5	6					0	0	0.000602	0	0
PHLDA2	7262	broad.mit.edu	37	11	2950434	2950434	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr11:2950434G>C	ENST00000314222.4	-	1	251	c.161C>G	c.(160-162)tCc>tGc	p.S54C		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	54	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTGAGGATGGAGTGGAAGCG	0.657000													8	45					0	0	0.006214	0	0
YWHAZ	7534	broad.mit.edu	37	8	101936232	101936232	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:101936232G>A	ENST00000395957.2	-	6	970	c.629C>T	c.(628-630)tCa>tTa	p.S210L	YWHAZ_ENST00000395958.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000457309.1_Missense_Mutation_p.S210L|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S133L|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S135L|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S210L			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	210					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	GTCTTTGTATGACTCTTCACT	0.343000													42	159					0	0	0.014410	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671590	131671590	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr9:131671590C>T	ENST00000259324.5	+	3	2670	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T716M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T716M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	716					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTAGCCATCACGGCCAACCGG	0.667000													29	71					0	0	0.009535	0	0
RBM12B	389677	broad.mit.edu	37	8	94746326	94746326	+	Silent	SNP	G	G	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:94746326G>A	ENST00000399300.2	-	3	2526	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F651F	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	771							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCGGGCGCCTGAAATGCTCTG	0.662000													25	88					0	0	0.006320	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88925146	88925146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr16:88925146C>A	ENST00000561840.1	+	2	113	c.35C>A	c.(34-36)tCg>tAg	p.S12*	TRAPPC2L_ENST00000301021.3_Silent_p.V51V|TRAPPC2L_ENST00000567312.1_Silent_p.V51V|TRAPPC2L_ENST00000568583.1_Silent_p.V51V|TRAPPC2L_ENST00000565504.1_Silent_p.V51V|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567895.1_Silent_p.V21V			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGGCCCTGGTCGACCAGAGGG	0.577000													15	51					0.00316338	0.00321722	0.003163	1	0
TRIOBP	11078	broad.mit.edu	37	22	38119504	38119504	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr22:38119504C>T	ENST00000406386.3	+	7	1196	c.941C>T	c.(940-942)tCc>tTc	p.S314F	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	314					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGGGCCTCATCCACCCAAGAG	0.607000													62	159					0	0	0.014410	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210446	143210446	+	RNA	DEL	T	T	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr1:143210446delT	ENST00000412204.2	-	0	624				RP11-782C8.1_ENST00000438000.1_lincRNA																							GTCCATATACTAAAAAGGTTA	0.284													5	6	---	---	---	---					
COL25A1	84570	broad.mit.edu	37	4	109780855	109780856	+	Frame_Shift_Ins	INS	-	-	TGGC			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr4:109780855_109780856insTGGC	ENST00000399132.1	-	24	1806_1807	c.1276_1277insGCCA	c.(1276-1278)tgafs	p.*426fs	COL25A1_ENST00000399126.1_Frame_Shift_Ins_p.*426fs|COL25A1_ENST00000399127.1_Frame_Shift_Ins_p.*407fs	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	426						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TATGATCTCAGTGGCTCCTTGA	0.510													11	70	---	---	---	---					
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304730	66304731	+	RNA	INS	-	-	T			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr7:66304730_66304731insT	ENST00000457166.1	-	0	189					NR_003934.1																						TTTTCTTTCCCttttttttttt	0.510													4	4	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22021060	22021061	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:22021060_22021061delGT	ENST00000522109.1	+	4	460_461	c.436_437delGT	c.(436-438)gfs	p.V146fs	SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site			P11686	PSPC_HUMAN	surfactant protein C	146	BRICHOS.				respiratory gaseous exchange	extracellular space		p.M146fs*41(1)		autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAACTTCCAGGTGTGTGTGTGT	0.545													7	55	---	---	---	---					
COL14A1	7373	broad.mit.edu	37	8	121180418	121180418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr8:121180418delG	ENST00000297848.3	+	5	638	c.368delG	c.(367-369)aafs	p.R123fs	COL14A1_ENST00000537875.1_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.R123fs	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	123					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTAGAAAAAAGAAAGGATCCA	0.353													69	124	---	---	---	---					
KTN1-AS1	100129075	broad.mit.edu	37	14	56014174	56014174	+	RNA	DEL	G	G	-	rs72015246		TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr14:56014174delG	ENST00000554558.1	-	0	364																											aaaaaaaaaagaaTTGGCACA	0.443													6	10	---	---	---	---					
KIAA1199	57214	broad.mit.edu	37	15	81171075	81171075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr15:81171075delC	ENST00000394685.3	+	4	527	c.108delC	c.(106-108)tgfs	p.C36fs	KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.C36fs|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.C36fs			Q8WUJ3	K1199_HUMAN	KIAA1199	36										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCTGGGTGCCCTGACCAGA	0.582													11	77	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2089465	2089466	+	RNA	DEL	CA	CA	-	rs150342638	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr18:2089465_2089466delCA	ENST00000579097.1	-	0	310																											ACTGCCCCCCCACCCACTCACC	0.525													3	4	---	---	---	---					
FRG1BP	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-BA-5152-01A-02D-1870-08	TCGA-BA-5152-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18da68fd-3bfb-45a3-ba28-4c90555b4e68	83d66369-f76e-42bf-b953-24b4f2b2d2e9	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													9	165	---	---	---	---					
