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
KIAA1751	85452	broad.mit.edu	37	1	1902133	1902133	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:1902133G>A	uc001aim.1	-	9	1167	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	KIAA1751_uc009vkz.1_Silent_p.H337H	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	337										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	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;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCGGCGCTGGTGGACAAGGT	0.677												
CHD5	26038	broad.mit.edu	37	1	6195434	6195434	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:6195434G>A	uc001amb.2	-	17	2837	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	909					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGTCAGCAAACTCCTC	0.602												
ZMYM4	9202	broad.mit.edu	37	1	35836122	35836122	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:35836122G>T	uc001byt.3	+	6	1155	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZMYM4_uc009vuu.3_Missense_Mutation_p.G327W|ZMYM4_uc001byu.3_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.3_Missense_Mutation_p.G98W|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	359					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGGTCTACTCA	0.483												
EPS15	2060	broad.mit.edu	37	1	51869155	51869155	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:51869155T>C	uc001csq.1	-	16	1819	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	576					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTAGTCACCTCATTTTCATC	0.338			T	MLL	ALL							
ECHDC2	55268	broad.mit.edu	37	1	53370462	53370462	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:53370462C>T	uc001cup.4	-	6	804	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ECHDC2_uc001cun.3_Silent_p.A109A|ECHDC2_uc001cuo.4_Silent_p.A155A|ECHDC2_uc021onl.1_Silent_p.A155A|ECHDC2_uc010onk.2_Silent_p.A140A	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	186					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGAGCTCCTTCGCCAGGGCCA	0.642												
AMY2B	280	broad.mit.edu	37	1	104115707	104115710	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:104115707_104115710delTAAT	uc010ouo.2	+	14	2042_2045	c.338_341delTAAT	c.(337-342)gtaattfs	p.V113fs	AMY2B_uc001duq.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	113					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGATGCTGTAATTAATCATATG	0.387												
TXNIP	10628	broad.mit.edu	37	1	145439050	145439050	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:145439050C>A	uc001enn.4	+	0	589	c.248C>A	c.(247-249)aCa>aAa	p.T83K	TXNIP_uc010oys.2_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	83					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCAGCCAACAGGTAAGCGG	0.463												
OR6K2	81448	broad.mit.edu	37	1	158669789	158669789	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:158669789G>A	uc001fsu.1	-	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCATCGTAGGACATGAAGA	0.478												
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:205042816C>T	uc001hbr.3	+	22	3315	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607												
ZMIZ1	57178	broad.mit.edu	37	10	81065892	81065892	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:81065892G>T	uc001kaf.2	+	21	3031	c.2459G>T	c.(2458-2460)tGc>tTc	p.C820F	ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	820					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATCCCACGTGCAGCTGGCGG	0.607												
PNLIP	5406	broad.mit.edu	37	10	118307871	118307871	+	Splice_Site	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118307871G>A	uc001lcm.3	+	4	245	c.202_splice	c.e4-1	p.E68_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	68					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388												
KIAA1598	57698	broad.mit.edu	37	10	118728202	118728202	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118728202G>T	uc021pzk.1	-	2	631	c.133C>A	c.(133-135)Cga>Aga	p.R45R	KIAA1598_uc009xyw.3_Silent_p.R45R|KIAA1598_uc001lcz.4_Silent_p.R45R|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Silent_p.R15R	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	45					axon guidance	axon		p.E44K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTTCATCTCGTTCTTGCCTA	0.318												
STIM1	6786	broad.mit.edu	37	11	4045179	4045179	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:4045179G>A	uc021qco.1	+	2	915	c.347G>A	c.(346-348)aGc>aAc	p.S116N	STIM1_uc001lyv.2_Missense_Mutation_p.S116N|STIM1_uc009yef.2_Missense_Mutation_p.S116N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	116					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AAGCTCATCAGCGTGGAGGAC	0.488												
OR8I2	120586	broad.mit.edu	37	11	55861310	55861310	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:55861310T>C	uc010rix.2	+	0	527	c.527T>C	c.(526-528)tTt>tCt	p.F176S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCAATCATTTTTTTTGTGAC	0.443												
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	rs143461929	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:63137793C>T	uc001nww.3	+	0	533	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537												
TSGA10IP	254187	broad.mit.edu	37	11	65714723	65714723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:65714723C>T	uc001ogk.1	+	3	456	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	143										endometrium(2)|kidney(3)|lung(9)	14						CTCGTTCTCCCAGCGTCAGTC	0.657												
MOGAT2	80168	broad.mit.edu	37	11	75439862	75439862	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:75439862C>T	uc010rru.2	+	4	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Silent_p.F144F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	226					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTCCTTCGGGGAGAATG	0.537												
GDPD4	220032	broad.mit.edu	37	11	76990356	76990356	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:76990356G>A	uc001oyf.3	-	2	393	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	48					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCAACAGCAATGAAGAG	0.433												
AMOTL1	154810	broad.mit.edu	37	11	94532995	94532995	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:94532995G>A	uc001pfb.3	+	2	809	c.639G>A	c.(637-639)gcG>gcA	p.A213A	AMOTL1_uc001pfc.3_Silent_p.A163A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	213						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				agcagGGGGCGGTGGGCCATG	0.612												
CLDN25	644672	broad.mit.edu	37	11	113650759	113650759	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:113650759G>A	uc009yyw.1	+	0	242	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	81						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CAGGTAGCCCGCATCCTCATG	0.557												
AQP5	362	broad.mit.edu	37	12	50355944	50355944	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:50355944G>A	uc001rvo.2	+	0	666	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	48					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TCGCGCTGGCGTTTGGCCTGG	0.667												
HSD17B6	8630	broad.mit.edu	37	12	57167873	57167873	+	Silent	SNP	G	G	A	rs147344470	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:57167873G>A	uc001smg.1	+	1	347	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	79					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGCTGGAGACGGTGACCCTGG	0.567												
NOS1	4842	broad.mit.edu	37	12	117669899	117669899	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:117669899C>T	uc001twn.2	-	22	4086	c.3375G>A	c.(3373-3375)ccG>ccA	p.P1125P	NOS1_uc021ren.1_Silent_p.P755P|NOS1_uc021reo.1_Silent_p.P755P|NOS1_uc001twm.2_Silent_p.P1091P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1091	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1091P(1)|p.E1124K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTGCAGGGCGGGAGGCGGA	0.602												
TSC22D1	8848	broad.mit.edu	37	13	45148388	45148388	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:45148388G>T	uc001uzn.4	-	0	2314	c.1823C>A	c.(1822-1824)tCt>tAt	p.S608Y	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	608	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCGCCTGAGAATATGGTAG	0.522												
TUBGCP3	10426	broad.mit.edu	37	13	113176787	113176787	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:113176787T>C	uc001vse.1	-	13	1779	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.3_Missense_Mutation_p.Q531R	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	531					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.Q531*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AATCTTCCCCTGAAATGCATT	0.423												
CHAMP1	283489	broad.mit.edu	37	13	115090500	115090500	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:115090500C>G	uc001vuv.3	+	2	1515	c.1183C>G	c.(1183-1185)Cca>Gca	p.P395A	CHAMP1_uc010tko.2_Missense_Mutation_p.P395A|CHAMP1_uc010ahb.3_Missense_Mutation_p.P395A|CHAMP1_uc021rmx.1_Missense_Mutation_p.P395A	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	395	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										GTCTGGCCCACCAGAACTCCG	0.557												
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473												
AHNAK2	113146	broad.mit.edu	37	14	105407228	105407228	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:105407228G>C	uc010axc.1	-	6	14680	c.14560C>G	c.(14560-14562)Cct>Gct	p.P4854A	AHNAK2_uc021sen.1_Missense_Mutation_p.P251A|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4854						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGAAACAGGAATCATGGAA	0.483												
NDN	4692	broad.mit.edu	37	15	23932352	23932352	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:23932352T>A	uc001ywk.3	-	0	99	c.13A>T	c.(13-15)Agt>Tgt	p.S5C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	5					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.S5I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATCCTTACTTTGTTCTGAC	0.642									Prader-Willi syndrome			
CHRFAM7A	89832	broad.mit.edu	37	15	30659651	30659651	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:30659651G>A	uc001zdt.1	-	8	1256	c.690C>T	c.(688-690)caC>caT	p.H230H	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	230						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCGGGGTCGTGGTGGTGGT	0.602												
MNS1	55329	broad.mit.edu	37	15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:56735891_56735893delTCT	uc002adr.2	-	5	1011_1013	c.846_848delAGA	c.(844-849)gaagat>gat	p.E282del	MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	282	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369												
ARID3B	10620	broad.mit.edu	37	15	74884098	74884098	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:74884098C>T	uc002aye.3	+	6	1564	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	ARID3B_uc002ayd.3_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	455	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTTCCAGCGCAACTTTTT	0.647												
SRRM2	23524	broad.mit.edu	37	16	2812074	2812074	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:2812074G>A	uc002crk.3	+	10	2094	c.1545G>A	c.(1543-1545)agG>agA	p.R515R	SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	515	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGGCGTAGGTCCAGGTCTG	0.617												
ACSM2A	123876	broad.mit.edu	37	16	20476938	20476938	+	Missense_Mutation	SNP	G	G	A	rs141326932		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20476938G>A	uc010bwe.3	+	3	516	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93T|ACSM2A_uc010vay.2_Missense_Mutation_p.A14T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	93					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						CAGCCAGCAGGCAGCCAACGT	0.612												
ACSM2B	348158	broad.mit.edu	37	16	20570670	20570670	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20570670C>T	uc002dhj.4	-	3	487	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGTTGGCTGCCTGCTGGCTG	0.602												
ALOX12B	242	broad.mit.edu	37	17	7989533	7989533	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:7989533G>T	uc002gjy.1	-	1	414	c.153C>A	c.(151-153)ggC>ggA	p.G51G	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	51	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGTACTGGCCCACCTAGG	0.647										Multiple Myeloma(8;0.094)		
SMCR7	125170	broad.mit.edu	37	17	18167942	18167942	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:18167942G>A	uc010vxq.2	+	3	1288	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.G410D	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	410						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTGCTCATCGGCAGCCTGGAG	0.627												
GPR179	440435	broad.mit.edu	37	17	36499092	36499092	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:36499092G>A	uc002hpz.3	-	0	602	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGGCAGGGGTGTCCAGGTC	0.642												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:39240819C>G	uc010wfn.2	+	0	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgctgcCTGCGTCCAGT	0.657												
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	T	G	rs61746948		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:39240900T>G	uc010wfn.2	+	0	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627												
PPM1D	8493	broad.mit.edu	37	17	58740521	58740521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:58740521G>T	uc002iyt.2	+	5	1658	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	476					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCACTTGAAGAAAATTGCGC	0.403											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)
C17orf77	146723	broad.mit.edu	37	17	72588368	72588368	+	Silent	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:72588368T>G	uc002jla.1	+	2	545	c.183T>G	c.(181-183)ggT>ggG	p.G61G	CD300LD_uc002jkz.2_5'UTR|C17orf77_uc021ucq.1_Silent_p.G61G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	61						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTCTCCTTGGTGATCACAGGT	0.537												
EMILIN2	84034	broad.mit.edu	37	18	2892201	2892201	+	Silent	SNP	G	G	A	rs3810066	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:2892201G>A	uc002kln.3	+	3	2235	c.2076G>A	c.(2074-2076)acG>acA	p.T692T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	692					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAATGCACGCAGGGGGTCC	0.572												
DCC	1630	broad.mit.edu	37	18	50592528	50592528	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:50592528C>A	uc002lfe.2	+	6	1869	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.2_Missense_Mutation_p.P73H	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	418					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P418T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATTGTCCCTAAGCCTGGT	0.438												
ZNF532	55205	broad.mit.edu	37	18	56587377	56587377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:56587377G>T	uc010xeg.2	+	2	2055	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZNF532_uc002lhp.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lho.3_Nonsense_Mutation_p.E620*|ZNF532_uc002lhr.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.3_Nonsense_Mutation_p.E618*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGCTTGGAGTGTGGGGA	0.537												
MC4R	4160	broad.mit.edu	37	18	58039346	58039346	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:58039346C>T	uc002lie.1	-	0	656	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	79					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGAAAAAGTACATGGGTGAAT	0.438												
ARID3A	1820	broad.mit.edu	37	19	964263	964263	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:964263G>A	uc002lql.3	+	4	1072	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	261	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGAACCGCATCCCCATC	0.637												
FUT6	2528	broad.mit.edu	37	19	5832254	5832254	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:5832254G>C	uc002mdf.1	-	3	851	c.325C>G	c.(325-327)Cac>Gac	p.H109D	FUT6_uc021unl.1_Missense_Mutation_p.H109D|FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc021unm.1_Missense_Mutation_p.H109D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	109					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTCTCGGTGGTGCACGATG	0.642												
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557												
CYP2B6	1555	broad.mit.edu	37	19	41515999	41515999	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:41515999G>A	uc002opr.1	+	5	930	c.923G>A	c.(922-924)cGc>cAc	p.R308H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	308					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCACTCTCCGCTACGGCTTC	0.552												
FOXA3	3171	broad.mit.edu	37	19	46375889	46375889	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:46375889G>A	uc002pdr.3	+	1	823	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	209					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACCTGCGCCGCCAGAAACGC	0.627												
EHD3	30845	broad.mit.edu	37	2	31483729	31483729	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:31483729C>T	uc002rnu.3	+	3	1464	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	286					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.P286P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAGAGTCTGCCCCGAAATGC	0.622												
BIRC6	57448	broad.mit.edu	37	2	32727897	32727897	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:32727897A>T	uc010ezu.3	+	47	9377	c.9243A>T	c.(9241-9243)ttA>ttT	p.L3081F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3081					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCCATTATTGTGGTTCA	0.313												
SLC4A5	57835	broad.mit.edu	37	2	74477637	74477637	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:74477637C>T	uc002sko.1	-	11	1488	c.1486G>A	c.(1486-1488)Ggt>Agt	p.G496S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	496	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGGCCACCGAAGAACCTG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
IL18RAP	8807	broad.mit.edu	37	2	103040791	103040791	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:103040791C>T	uc002tbx.3	+	4	980	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	IL18RAP_uc010fiz.3_Missense_Mutation_p.L24F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	166	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						gcaagacctacttcttgggag	0.468												
TMEM87B	84910	broad.mit.edu	37	2	112865416	112865416	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:112865416G>A	uc002thm.2	+	17	1946	c.1577_splice	c.e17+1	p.V526_splice		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	526						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCACAGATGTGTAAGTTAT	0.343												
GCG	2641	broad.mit.edu	37	2	163005628	163005628	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:163005628G>A	uc002ucc.3	-	1	317	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	21					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGAAGGGAACGTTGCCAGCTG	0.413												
MYO3B	140469	broad.mit.edu	37	2	171243715	171243715	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:171243715T>C	uc002ufy.3	+	13	1617	c.1474T>C	c.(1474-1476)Ttt>Ctt	p.F492L	MYO3B_uc002ufv.3_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F492L|MYO3B_uc002ufz.3_Missense_Mutation_p.F492L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	492	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCGAGCCGTTTTGGAAAATA	0.433												
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368												
MYO1B	4430	broad.mit.edu	37	2	192141643	192141643	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:192141643A>T	uc010fsg.2	+	1	277	c.22A>T	c.(22-24)Acc>Tcc	p.T8S	MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	8						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAGGTGAAAACCTCACTTCT	0.433												
SLC19A3	80704	broad.mit.edu	37	2	228560683	228560683	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:228560683T>C	uc002vpi.3	-	3	1183	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	365					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.Y365H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443												
CHRND	1144	broad.mit.edu	37	2	233394760	233394760	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:233394760G>A	uc002vsw.3	+	6	735	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	244					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATCATCCGCCGCAAGCCCCTC	0.607												
SNED1	25992	broad.mit.edu	37	2	242004746	242004746	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:242004746G>A	uc002wah.1	+	20	2745	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.3_Silent_p.E2E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	915	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAAGATGGAGAGAGTGGAGG	0.607												
ANGPT4	51378	broad.mit.edu	37	20	869018	869018	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:869018A>G	uc002wei.3	-	2	633	c.530T>C	c.(529-531)cTg>cCg	p.L177P	ANGPT4_uc010zpn.2_Missense_Mutation_p.L171P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	177					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCCAGCTTGTTGGT	0.597												
NCOR1P1	149934	broad.mit.edu	37	20	26084125	26084125	+	Silent	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:26084125T>C	uc002wvj.4	-	1	346	c.291A>G	c.(289-291)caA>caG	p.Q97Q						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		AGACTTTTACTTGTTTCTTTT	0.299												
DHX35	60625	broad.mit.edu	37	20	37632428	37632428	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:37632428C>A	uc002xjh.3	+	10	919	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	DHX35_uc010zwa.2_Missense_Mutation_p.Q142K|DHX35_uc010zwc.2_Missense_Mutation_p.Q266K|DHX35_uc010zwb.2_Missense_Mutation_p.Q142K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	297	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCTCATCGAGCAGGCTCGAGC	0.453												
BACH1	571	broad.mit.edu	37	21	30693606	30693606	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:30693606C>G	uc002ynk.3	+	1	248	c.5C>G	c.(4-6)tCt>tGt	p.S2C	BACH1_uc002ynj.3_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	2						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCAGAATGTCTCTGAGTGAG	0.403												
KRTAP12-3	386683	broad.mit.edu	37	21	46078019	46078019	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:46078019G>A	uc002zft.3	+	0	171	c.123G>A	c.(121-123)acG>acA	p.T41T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	41	14 X 5 AA approximate repeats.					intermediate filament		p.C40*(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAGCTGCACGCGCATTGTGT	0.637												
PARVG	64098	broad.mit.edu	37	22	44581720	44581720	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr22:44581720C>T	uc011aqe.2	+	3	536	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	PARVG_uc010gzo.3_Missense_Mutation_p.R105W|PARVG_uc021wra.1_Missense_Mutation_p.R38W|PARVG_uc003bep.3_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.R38W|PARVG_uc011aqf.2_Missense_Mutation_p.R38W|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	38					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCCACTTCCCGGAAGGACCC	0.607												
SLC4A7	9497	broad.mit.edu	37	3	27478926	27478926	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:27478926T>G	uc011aww.2	-	3	602	c.381A>C	c.(379-381)gaA>gaC	p.E127D	SLC4A7_uc011awx.2_Missense_Mutation_p.E127D|SLC4A7_uc021wun.1_Missense_Mutation_p.E127D|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.E123D|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.E123D|SLC4A7_uc011axb.2_Missense_Mutation_p.E127D|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.E123D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdv.3_Missense_Mutation_p.E118D|SLC4A7_uc003cdw.3_Missense_Mutation_p.E118D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	118						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGTAACACAGTTCATCCATTT	0.373												
COL6A5	256076	broad.mit.edu	37	3	130159541	130159541	+	Missense_Mutation	SNP	G	G	A	rs146634521	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:130159541G>A	uc010htj.1	+	34	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2120	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408												
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
GABRA4	2557	broad.mit.edu	37	4	46930475	46930475	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:46930475C>T	uc003gxg.3	-	8	2415	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	GABRA4_uc021xnz.1_Missense_Mutation_p.V459M|GABRA4_uc021xoa.1_Missense_Mutation_p.V408M	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	478					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATCCAAACACGTGACGAGTA	0.488												
CABS1	85438	broad.mit.edu	37	4	71201240	71201240	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:71201240G>A	uc003hff.3	+	0	570	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	CABS1_uc021xoz.1_Missense_Mutation_p.V162I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	162						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCTCTGAAGTCTCTGGCAC	0.413												
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:110384778G>A	uc003hzk.3	+	1	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	285					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	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413												
NAF1	92345	broad.mit.edu	37	4	164050096	164050096	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:164050096G>C	uc003iqj.3	-	7	1632	c.1438C>G	c.(1438-1440)Cca>Gca	p.P480A	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	480	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAgagggtggaggaggcagt	0.458												
PALLD	23022	broad.mit.edu	37	4	169433085	169433085	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:169433085G>A	uc011cjx.2	+	1	641	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	PALLD_uc003iru.3_Missense_Mutation_p.G144S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	144					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.G144R(2)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAAAAGCGTGGTGCAAAAAC	0.512									Pancreatic Cancer, Familial Clustering of			
LRP2BP	55805	broad.mit.edu	37	4	186299262	186299262	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:186299262A>C	uc003ixj.2	-	0	891	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	LRP2BP_uc003ixk.2_5'UTR|LRP2BP_uc021xvi.1_Non-coding_Transcript	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	27						cytoplasm	protein binding	p.F27F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CACTGGAAAAATTTTTGGTTT	0.378												
MARVELD2	153562	broad.mit.edu	37	5	68737366	68737366	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:68737366C>T	uc003jwq.3	+	6	1636	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	MARVELD2_uc010ixf.3_Missense_Mutation_p.T509I|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	521					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGGATCCTACATTTCTGGAA	0.318												
FBN2	2201	broad.mit.edu	37	5	127728993	127728993	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:127728993G>T	uc003kuu.3	-	9	1739	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FBN2_uc003kuv.2_Missense_Mutation_p.P401T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	434					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)		GTGCCTCCAGGTCTGGAACCA	0.532												
PDLIM4	8572	broad.mit.edu	37	5	131607724	131607724	+	Silent	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:131607724C>G	uc003kwo.3	+	5	1196	c.1119C>G	c.(1117-1119)acC>acG	p.T373T	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.T265T|PDLIM4_uc003kwp.3_Missense_Mutation_p.P226R	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	265							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGGGCACCATCGTCAAGG	0.617												
PCDHGC5	9708	broad.mit.edu	37	5	140774290	140774290	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:140774290C>T	uc003lkd.2	+	0	2808	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.A637V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A637E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCGCTCAAGCAG	0.682												
DSP	1832	broad.mit.edu	37	6	7580369	7580369	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:7580369G>A	uc003mxp.1	+	22	4225	c.3946G>A	c.(3946-3948)Gct>Act	p.A1316T	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.A1316T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1316	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGAGGAGGCTGCCAAGAC	0.512												
COL11A2	1302	broad.mit.edu	37	6	33137189	33137189	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:33137189T>C	uc003ocx.1	-	50	3997	c.3769A>G	c.(3769-3771)Aca>Gca	p.T1257A	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1257	Triple-helical region.			T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).	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						TCATCGCCTGTGGGGCCTTTA	0.627												
KCNK17	89822	broad.mit.edu	37	6	39272395	39272395	+	Missense_Mutation	SNP	C	C	T	rs142227833		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:39272395C>T	uc003ooo.3	-	2	530	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KCNK17_uc003oop.3_Missense_Mutation_p.R130H	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	130						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R130L(3)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612												
PTK7	5754	broad.mit.edu	37	6	43109453	43109453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:43109453C>T	uc011dve.1	+	10	1732	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y	PTK7_uc003oub.1_Missense_Mutation_p.H556Y|PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	556	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGGACCCTGCATTTTGCCCG	0.582												
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54191661C>T	uc003pcj.2	+	3	717	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(2)|p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373												
TINAG	27283	broad.mit.edu	37	6	54254704	54254704	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54254704C>T	uc003pcj.2	+	10	1558	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	471					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGCCAACTGACGAGTTCTGAT	0.403												
RIMS1	22999	broad.mit.edu	37	6	72993805	72993805	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:72993805G>T	uc003pga.3	+	23	3615	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Missense_Mutation_p.A561S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Missense_Mutation_p.A481S|RIMS1_uc011dyd.2_Missense_Mutation_p.A547S|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Missense_Mutation_p.A37S|RIMS1_uc011dyf.2_Missense_Mutation_p.A37S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1180					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAGGCACTGCCTCTGATGC	0.398												
MAP3K7	6885	broad.mit.edu	37	6	91226312	91226312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:91226312C>A	uc003pnz.1	-	16	2034	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	577					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTTGTTTTCATCTAAAAGC	0.408												
LAMA4	3910	broad.mit.edu	37	6	112496666	112496666	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:112496666C>A	uc003pvu.2	-	10	1515	c.1206G>T	c.(1204-1206)atG>atT	p.M402I	LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	402	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAATAGAGCATCTTGTTGT	0.483												
DSE	29940	broad.mit.edu	37	6	116757126	116757126	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:116757126G>A	uc011ebg.2	+	5	1651	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	DSE_uc003pws.3_Missense_Mutation_p.V499M|DSE_uc003pwt.3_Missense_Mutation_p.V499M|DSE_uc003pwu.3_Missense_Mutation_p.V166M	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	499					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTCCCTGGGTGGGTCAGGT	0.483												
COL28A1	340267	broad.mit.edu	37	7	7412801	7412801	+	Silent	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:7412801T>C	uc003src.1	-	31	2853	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	COL28A1_uc011jxe.1_Silent_p.K595K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	912	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGTTTCTCTTTATCACGAG	0.443												
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:48081010C>G	uc003toh.4	+	2	347	c.135C>G	c.(133-135)agC>agG	p.S45R	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537												
EGFR	1956	broad.mit.edu	37	7	55221716	55221716	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:55221716T>A	uc003tqk.3	+	6	1006	c.760T>A	c.(760-762)Ttc>Atc	p.F254I	EGFR_uc003tqh.3_Missense_Mutation_p.F254I|EGFR_uc003tqi.3_Missense_Mutation_p.F254I|EGFR_uc003tqj.3_Missense_Mutation_p.F254I|EGFR_uc022adm.1_Missense_Mutation_p.F254I|EGFR_uc010kzg.2_Missense_Mutation_p.F209I|EGFR_uc022adn.1_Missense_Mutation_p.F209I|EGFR_uc011kco.2_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	254					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.F254F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGCCGCAAATTCCGAGACGA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
WBSCR17	64409	broad.mit.edu	37	7	71135089	71135089	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:71135089G>A	uc003tvy.3	+	7	1399	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	WBSCR17_uc003tvz.3_Missense_Mutation_p.G166R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413												
SAMD9	54809	broad.mit.edu	37	7	92733048	92733048	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:92733048C>T	uc003umf.3	-	2	2633	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H	SAMD9_uc003umg.3_Missense_Mutation_p.R788H|SAMD9_uc022ahg.1_Missense_Mutation_p.R788H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	788						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTATTCCTGACGGTTCATTGC	0.378												
TRIM56	81844	broad.mit.edu	37	7	100730794	100730794	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:100730794C>T	uc003uxq.3	+	2	432	c.201C>T	c.(199-201)ccC>ccT	p.P67P	TRIM56_uc003uxr.3_Silent_p.P67P|TRIM56_uc022aiw.1_Silent_p.P67P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	67					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGCCCGAGGGTGTGG	0.677												
RELN	5649	broad.mit.edu	37	7	103159906	103159906	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:103159906G>T	uc022ajr.1	-	48	7886	c.7726C>A	c.(7726-7728)Caa>Aaa	p.Q2576K	RELN_uc022ajq.1_Missense_Mutation_p.Q2576K|RELN_uc010liz.3_Missense_Mutation_p.Q2576K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2576					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.I2575I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTAAAATTGGATGAACTCA	0.378												
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:143175728G>A	uc003wdc.1	+	0	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	255					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.A254A(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493												
DLGAP2	9228	broad.mit.edu	37	8	1649565	1649565	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:1649565G>A	uc003wpl.3	+	11	3018	c.2921G>A	c.(2920-2922)cGg>cAg	p.R974Q	DLGAP2_uc003wpm.3_Missense_Mutation_p.R960Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1053					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCAGACCCGGCTCTGAGGG	0.706												
ADAM28	10863	broad.mit.edu	37	8	24199150	24199150	+	Silent	SNP	G	G	A	rs145453785	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:24199150G>A	uc003xdy.3	+	15	1793	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S257S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(2)|p.G569W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413												
ARHGAP39	80728	broad.mit.edu	37	8	145771184	145771184	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:145771184A>G	uc003zds.1	-	6	2525	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zdt.1_Missense_Mutation_p.L657P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	657					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACAGGCAGCGAGGTCCTCAGA	0.672												
FREM1	158326	broad.mit.edu	37	9	14784500	14784500	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:14784500G>A	uc003zlm.3	-	24	5126	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1437					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATATCGCGGAGGGGAGGT	0.488												
FOXD4L5	653427	broad.mit.edu	37	9	70177746	70177747	+	In_Frame_Ins	INS	-	-	GCC			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:70177746_70177747insGCC	uc010moc.3	-	0	1069_1070	c.237_238insGGC	c.(235-240)insGGC	p.79_80insG		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	79					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G79G(3)		endometrium(5)|lung(2)	7						GGGTCACTCGGGCCGCCGCCGC	0.688												
PHF8	23133	broad.mit.edu	37	X	53970579	53970579	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:53970579C>T	uc004dsu.3	-	19	2991	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PHF8_uc004dsv.3_Silent_p.K745K|PHF8_uc004dst.3_Silent_p.K879K|PHF8_uc004dsw.3_Silent_p.K778K|PHF8_uc004dsx.3_Silent_p.K643K|PHF8_uc004dsy.3_Silent_p.K862K	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	915					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGCCAGCTTTGCAGCTG	0.592												
ITIH6	347365	broad.mit.edu	37	X	54784130	54784130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:54784130G>A	uc004dtj.2	-	7	2407	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	793	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GCCCCAAGTTGGGGGTGCGAT	0.552												
PCDH11Y	83259	broad.mit.edu	37	Y	4966471	4966471	+	Silent	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrY:4966471A>G	uc004fqo.3	+	1	1586	c.852A>G	c.(850-852)acA>acG	p.T284T	PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	284	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAGGAGACAGAGATTGAAG	0.428												
