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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SCAND3	114821	broad.mit.edu	37	6	28543374	28543374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:28543374C>T	uc003nlo.3	-	2	1726	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	370	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAACTAACTTCCTTAATTGAT	0.343000														59			6		0	0	3.59834e-05	0	0
CSE1L	1434	broad.mit.edu	37	20	47706113	47706113	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:47706113C>T	uc002xty.3	+	18	2145	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	CSE1L_uc010zyg.2_Silent_p.L454L|CSE1L_uc010ghx.3_Silent_p.L615L|CSE1L_uc010ghy.3_Silent_p.L292L|CSE1L_uc010zyh.2_Silent_p.L320L	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	671					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTCTTTGCTTCTGGAAACACA	0.408000														49			7		0	0	0.000274275	0	0
FGR	2268	broad.mit.edu	37	1	27942078	27942078	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:27942078C>T	uc001boj.3	-	6	1031	c.885G>A	c.(883-885)ccG>ccA	p.P295P	FGR_uc001boi.3_5'UTR|FGR_uc001bok.3_Silent_p.P295P|FGR_uc001bol.3_Silent_p.P295P|FGR_uc001bom.3_Silent_p.P295P	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	295	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACATGGTGCCCGGCTTCAGCG	0.667000														32			6		0	0	8.12818e-05	0	0
SQRDL	58472	broad.mit.edu	37	15	45965882	45965882	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:45965882G>A	uc001zvu.3	+	5	730	c.537G>A	c.(535-537)tgG>tgA	p.W179*	SQRDL_uc001zvv.3_Nonsense_Mutation_p.W179*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	179							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGAAGACATGGAAAGCTCTGC	0.433000														85			10		0	0	0.000673444	0	0
FAM47C	442444	broad.mit.edu	37	X	37027834	37027834	+	Missense_Mutation	SNP	C	T	T	rs61730908	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:37027834C>T	uc004ddl.2	+	0	1403	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	451								p.R451P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.622000														19			11		0	0	0.000673444	0	0
MDN1	23195	broad.mit.edu	37	6	90365646	90365646	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:90365646G>A	uc003pnn.1	-	91	15443	c.15327C>T	c.(15325-15327)tcC>tcT	p.S5109S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5109					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATCACCCATGGAACGTTCAT	0.532000														21			4		0	0	3.59834e-05	0	0
ITIH2	3698	broad.mit.edu	37	10	7763636	7763636	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:7763636G>A	uc001ijs.3	+	7	925	c.763G>A	c.(763-765)Gta>Ata	p.V255I		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	255					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAGCCCACGGTAGCACAGCA	0.567000														89			11		0	0	0.000978159	0	0
KDM2B	84678	broad.mit.edu	37	12	121970717	121970717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:121970717G>A	uc001uat.3	-	7	1029	c.925C>T	c.(925-927)Cct>Tct	p.P309S	KDM2B_uc001uas.3_Missense_Mutation_p.P278S|KDM2B_uc021rfd.1_Missense_Mutation_p.P278S|KDM2B_uc001uau.3_Missense_Mutation_p.P192S|KDM2B_uc021rfe.1_Missense_Mutation_p.P309S|KDM2B_uc001uav.4_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	309	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTACCGGAAGGGATGAAAAAT	0.582000														64			13		0	0	0.000151284	0	0
MEGF8	1954	broad.mit.edu	37	19	42861644	42861644	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:42861644C>T	uc002otl.4	+	26	5353	c.4718C>T	c.(4717-4719)tCc>tTc	p.S1573F	MEGF8_uc002otm.4_Missense_Mutation_p.S1181F	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1640						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCGGTTACTCCCCGGAAAAT	0.662000														53			7		0	0	8.12818e-05	0	0
HLTF	6596	broad.mit.edu	37	3	148778438	148778438	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:148778438C>A	uc003ewq.1	-	11	1495	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	HLTF_uc003ewr.1_Missense_Mutation_p.R426M|HLTF_uc003ews.1_Missense_Mutation_p.R426M|HLTF_uc010hve.1_Missense_Mutation_p.R426M	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	426					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACCTTTCGCCCTGCCTTTAGT	0.323000														170			7		0.000157383	0.0013688	0.000157383	1	0
ZMYM2	7750	broad.mit.edu	37	13	20567307	20567307	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr13:20567307G>A	uc001umr.3	+	3	393	c.95G>A	c.(94-96)gGa>gAa	p.G32E	ZMYM2_uc001umq.3_Missense_Mutation_p.G32E|ZMYM2_uc001ums.3_Missense_Mutation_p.G32E|ZMYM2_uc021rgy.1_Missense_Mutation_p.G32E|ZMYM2_uc001umt.3_Missense_Mutation_p.G32E|ZMYM2_uc009zzn.1_Missense_Mutation_p.G54E	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	p.G32R(2)|p.G32E(1)		large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		ACGAATGTAGGAAACTCATTT	0.408000														60			8		0	0	0.000157383	0	0
LPCAT1	79888	broad.mit.edu	37	5	1477559	1477559	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:1477559G>A	uc003jcm.3	-	8	976	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	287					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TACAGCGCGGGGTTCCTCTTC	0.582000														61			8		0	0	0.000673444	0	0
CYP1A1	1543	broad.mit.edu	37	15	75012958	75012958	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:75012958G>A	uc002ayp.4	-	6	1533	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	CYP1A1_uc010bjy.3_Silent_p.L442L|CYP1A1_uc010bju.3_Silent_p.L207L|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Silent_p.L207L|CYP1A1_uc002ayq.4_Silent_p.L471L	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	471					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGATAGCCAGGAAGAGAAAG	0.537000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					97			11		0	0	0.000673444	0	0
SYN2	6854	broad.mit.edu	37	3	12224831	12224831	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:12224831C>T	uc003bwm.3	+	13	1480	c.1316C>T	c.(1315-1317)cCg>cTg	p.P439L	SYN2_uc003bwl.1_Missense_Mutation_p.P439L|SYN2_uc003bwn.3_Missense_Mutation_p.P117L	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	443					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTTAAGGATCCGGACTCAAGC	0.468000														179			16		0	0	0.00074312	0	0
PAQR8	85315	broad.mit.edu	37	6	52268563	52268563	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:52268563C>T	uc003pao.4	+	1	726	c.552C>T	c.(550-552)gcC>gcT	p.A184A	PAQR8_uc021zal.1_Silent_p.A184A	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	184					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CAGCAGCTGCCTTCTGTGGCT	0.507000														100			45		0	0	0.000437636	0	0
LRIT2	340745	broad.mit.edu	37	10	85981770	85981770	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:85981770G>A	uc010qmc.2	-	3	1597	c.1589C>T	c.(1588-1590)tCc>tTc	p.S530F	LRIT2_uc001kcy.3_Missense_Mutation_p.S520F	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	520						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTCTCTAAAGGAGCCATCCTT	0.597000														103			11		0	0	0.000978159	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958249	57958249	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:57958249G>A	uc010rka.2	+	0	344	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TCCCAGGCTCGCTGTGCAGCT	0.592000														74			12		0	0	0.000219431	0	0
FAM117B	150864	broad.mit.edu	37	2	203622021	203622021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:203622021C>T	uc010zhx.2	+	5	1200	c.1190C>T	c.(1189-1191)cCt>cTt	p.P397L		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	397										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACACAGACGCCTGGTGGGGCA	0.552000														168			10		0	0	0.000673444	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668453	176668453	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:176668453G>A	uc001gkz.3	+	7	4128	c.2964G>A	c.(2962-2964)ctG>ctA	p.L988L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	988					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATCTTGCTGGAAAACAAGG	0.552000														74			14		0	0	0.000422831	0	0
SHBG	6462	broad.mit.edu	37	17	7535032	7535032	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:7535032C>T	uc002gie.2	+	4	719	c.681C>T	c.(679-681)ctC>ctT	p.L227L	SHBG_uc010cmu.2_Silent_p.L169L|SHBG_uc010cmo.2_Silent_p.L115L|SHBG_uc010cmp.2_Silent_p.L169L|SHBG_uc010cmq.2_Silent_p.L115L|SHBG_uc010cmr.2_Silent_p.L115L|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.L169L|SHBG_uc010cmz.2_Silent_p.L169L|SHBG_uc010cmv.2_Silent_p.L115L|SHBG_uc010cmw.2_Silent_p.L115L|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.L169L|SHBG_uc002gid.3_Silent_p.L169L|SHBG_uc010cnd.2_Silent_p.L173L|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.L209L|SHBG_uc010vuf.1_Silent_p.L227L|SHBG_uc010cnb.2_Silent_p.L227L|SHBG_uc010cnc.2_Silent_p.L173L	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	227	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGATATTTCTCCCTCCAGGGA	0.557000														223			17		0	0	0.000175454	0	0
SYN1	6853	broad.mit.edu	37	X	47436013	47436013	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:47436013G>T	uc004die.3	-	6	993	c.864C>A	c.(862-864)ttC>ttA	p.F288L	SYN1_uc004did.3_Missense_Mutation_p.F288L	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	288	C; actin-binding and synaptic-vesicle binding.					Golgi apparatus|cell junction	ATP binding|actin binding|ligase activity|transporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CGATGTCCTGGAAGTCATGCT	0.587000														23			7		8.12818e-05	0.000713474	8.12818e-05	1	0
TGM3	7053	broad.mit.edu	37	20	2290305	2290305	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:2290305C>T	uc002wfx.4	+	1	107	c.10C>T	c.(10-12)Cta>Tta	p.L4L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	4					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTCACAGCTCTAGGAGTCCA	0.547000														76			5		0	0	3.59834e-05	0	0
MEFV	4210	broad.mit.edu	37	16	3304362	3304362	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:3304362C>T	uc002cun.1	-	1	746	c.706G>A	c.(706-708)Gga>Aga	p.G236R	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	236					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.G236R(2)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CGCATCTTTCCCGAGGGCAGG	0.627000														166			14		0	0	0.000308642	0	0
OR1A2	26189	broad.mit.edu	37	17	3101267	3101267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:3101267G>A	uc002fvd.1	+	0	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TGGGTGATTGGAAACACCAGT	0.493000														27			4		0	0	0.00024832	0	0
NFKBIB	4793	broad.mit.edu	37	19	39396105	39396105	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:39396105C>T	uc002ojw.3	+	2	652	c.549C>T	c.(547-549)tcC>tcT	p.S183S	NFKBIB_uc010egk.2_Silent_p.S97S|NFKBIB_uc002ojx.3_Silent_p.S151S|NFKBIB_uc002ojy.3_Silent_p.S183S	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	183					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	p.S183A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCCGATTCCGACTTGGAGA	0.632000														58			6		0	0	0.000157383	0	0
DNAH17	8632	broad.mit.edu	37	17	76440827	76440827	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:76440827G>A	uc010dhp.2	-	70	11512	c.11387C>T	c.(11386-11388)tCt>tTt	p.S3796F	DNAH17_uc002jvq.3_Missense_Mutation_p.S81F|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCGCTTGGCAGATCCTTCGAT	0.577000														59			5		0	0	0.000602214	0	0
DNAH6	1768	broad.mit.edu	37	2	84811252	84811252	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:84811252C>T	uc010fgb.3	+	14	2496	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	DNAH6_uc002soo.3_Missense_Mutation_p.R366W|DNAH6_uc002sop.3_Missense_Mutation_p.R366W	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	787	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGTTGCTGTTCGGAATGCCAT	0.393000														52			5		0	0	3.59834e-05	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024386	27024386	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:27024386C>T	uc003acz.4	+	4	470	c.435C>T	c.(433-435)caC>caT	p.H145H		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	145	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCACGTCCACTCTGGGGCGT	0.552000														51			7		0	0	0.000274275	0	0
ASTN1	460	broad.mit.edu	37	1	176915101	176915101	+	Missense_Mutation	SNP	T	C	C	rs35946265	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:176915101T>C	uc001glc.3	-	12	2422	c.2210A>G	c.(2209-2211)aAg>aGg	p.K737R	ASTN1_uc001glb.1_Missense_Mutation_p.K737R|ASTN1_uc001gld.1_Missense_Mutation_p.K737R|ASTN1_uc009wwx.1_Missense_Mutation_p.K737R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	745					cell migration|neuron cell-cell adhesion	integral to membrane		p.K737K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCCACTTCCTTGGAATGGTT	0.478000														112			14		0	0	0.000151284	0	0
KATNB1	10300	broad.mit.edu	37	16	57787354	57787354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:57787354G>A	uc002eml.1	+	11	1474	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	367	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GAGGATGACCGGGACGAGCGC	0.667000														33			6		0	0	0.000157383	0	0
LGI2	55203	broad.mit.edu	37	4	25005685	25005685	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:25005685G>A	uc003grf.2	-	7	1125	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	342						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGCTGTCTGCGATGACAAAGA	0.468000														35			10		0	0	0.000673444	0	0
FAM214B	80256	broad.mit.edu	37	9	35108141	35108141	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:35108141G>A	uc003zwl.3	-	2	456	c.131C>T	c.(130-132)tCc>tTc	p.S44F	FAM214B_uc003zwm.3_Missense_Mutation_p.S44F|FAM214B_uc003zwn.3_5'UTR|FAM214B_uc003zwo.3_Missense_Mutation_p.S44F|FAM214B_uc003zwp.1_Missense_Mutation_p.S44F|FAM214B_uc010mkk.1_Non-coding_Transcript|FAM214B_uc022bgj.1_Missense_Mutation_p.S44F	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	44						nucleus		p.S44F(1)									GACCCCGGGGGATGTCGCCCC	0.667000														14			4		0	0	0.00024832	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30309586	30309586	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:30309586C>T	uc010jrz.3	+	8	1419	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	TRIM39-RPP21_uc003npz.3_Silent_p.L339L|TRIM39-RPP21_uc003nqb.3_Silent_p.L339L|TRIM39-RPP21_uc003nqc.3_Silent_p.L339L|TRIM39-RPP21_uc010jsa.2_Silent_p.L339L	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	251						intracellular	zinc ion binding										TCCGGGATCTCCCTGACACAC	0.567000														29			10		0	0	0.000978159	0	0
UBE3C	9690	broad.mit.edu	37	7	156979615	156979615	+	Silent	SNP	C	T	T	rs143608582		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:156979615C>T	uc010lqs.3	+	9	1543	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L	UBE3C_uc003wnf.2_Silent_p.L368L|UBE3C_uc003wng.2_Silent_p.L411L	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	411					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGCTCAACCTGGTGTGGAG	0.547000														25			5		0	0	0.000602214	0	0
PLEC	5339	broad.mit.edu	37	8	145024808	145024808	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:145024808C>T	uc003zaf.1	-	0	237	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	23	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCATCACGCCCTCGCGGAAG	0.692000														30			5		0	0	3.59834e-05	0	0
TYW3	127253	broad.mit.edu	37	1	75198982	75198982	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:75198982G>A	uc001dgn.3	+	0	147	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CRYZ_uc001dgk.3_5'UTR|CRYZ_uc001dgj.3_5'UTR|CRYZ_uc001dgl.3_5'UTR|CRYZ_uc001dgm.3_5'UTR|TYW3_uc010oqw.2_Silent_p.A18A|TYW3_uc010oqx.2_Silent_p.A18A|TYW3_uc010oqy.2_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	18					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						TGAGCAAAGCGGACCTCAGCC	0.577000														26			4		0	0	0.00024832	0	0
CIT	11113	broad.mit.edu	37	12	120241141	120241141	+	Silent	SNP	A	G	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:120241141A>G	uc001txj.2	-	9	1220	c.1164T>C	c.(1162-1164)ttT>ttC	p.F388F	CIT_uc001txh.2_5'UTR|CIT_uc001txi.2_Silent_p.F388F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	388	AGC-kinase C-terminal.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGGTTCATCAAAATTGGAGG	0.502000														117			12		0	0	0.000219431	0	0
DNAH2	146754	broad.mit.edu	37	17	7646342	7646342	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:7646342C>T	uc002giu.1	+	10	1800	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	DNAH2_uc002git.3_Nonsense_Mutation_p.R678*|DNAH2_uc010vuk.2_Nonsense_Mutation_p.R596*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	596	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGCTGGTTCGAAAAACCTT	0.537000														67			6		0	0	8.12818e-05	0	0
RPS3	6188	broad.mit.edu	37	11	75115750	75115750	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:75115750C>T	uc001owh.3	+	5	603	c.573C>T	c.(571-573)ccC>ccT	p.P191P		NM_001005	NP_000996	P23396	RS3_HUMAN	Homo sapiens ribosomal protein S3 (RPS3), mRNA.	191					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	DNA-(apurinic or apyrimidinic site) lyase activity|NF-kappaB binding|damaged DNA binding|endonuclease activity|iron-sulfur cluster binding|mRNA binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TCATGCTGCCCTGGGACCCAA	0.552000														58			7		0	0	0.000157383	0	0
PPYR1	5540	broad.mit.edu	37	10	47087366	47087366	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:47087366C>T	uc001jee.3	+	2	1002	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.L195L|PPYR1_uc021ppu.1_Silent_p.L195L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	195					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGGAGTTCCTGGCGGATAA	0.587000														136			5		0	0	3.59834e-05	0	0
HTR7	3363	broad.mit.edu	37	10	92503376	92503376	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:92503376G>A	uc001kha.3	-	2	1610	c.1367C>T	c.(1366-1368)tCt>tTt	p.S456F	HTR7_uc001kgz.3_Intron|HTR7_uc001khb.3_Intron	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	456					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATGGTCTGGAGATTGTAGCAC	0.488000														23			4		0	0	0.000602214	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:78211517C>G	uc010bky.2	-	10	1014	c.250G>C	c.(250-252)Gtc>Ctc	p.V84L						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TTGCTCAGGACACTCAAGGCC	0.557000														223			5		0	0	0.000602214	0	0
FBLN7	129804	broad.mit.edu	37	2	112942830	112942830	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:112942830C>T	uc002tho.1	+	6	1132	c.861C>T	c.(859-861)tgC>tgT	p.C287C	FBLN7_uc010fki.1_Silent_p.C241C|FBLN7_uc010fkj.1_Silent_p.C153C	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGACCACATGCATCAACACCG	0.577000														74			7		0	0	0.000157383	0	0
TNR	7143	broad.mit.edu	37	1	175332878	175332878	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:175332878G>A	uc001gkp.1	-	10	2754	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	TNR_uc009wwu.1_Silent_p.F891F	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	891	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S890Y(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTAGTAATCGAAAGATGCAA	0.438000														52			8		0	0	0.000978159	0	0
NPS	594857	broad.mit.edu	37	10	129347758	129347758	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:129347758T>C	uc001ljx.1	+	1	34	c.14T>C	c.(13-15)gTa>gCa	p.V5A		NM_001030013	NP_001025184	P0C0P6	NPS_HUMAN	Homo sapiens neuropeptide S (NPS), transcript variant 1, mRNA.	5					neuropeptide signaling pathway	extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TGCAGCTCAGTAAAACTCAAT	0.373000														45			7		0	0	0.000274275	0	0
DAGLA	747	broad.mit.edu	37	11	61511262	61511262	+	Missense_Mutation	SNP	C	A	A	rs150806850		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:61511262C>A	uc001nsa.3	+	19	2546	c.2430C>A	c.(2428-2430)caC>caA	p.H810Q		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	810					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CCAGCCTCCACGCTGTGCTGG	0.652000														146			14		4.93089e-13	4.40989e-12	0.000219431	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118358	118358	+	RNA	SNP	A	G	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrGL000205.1:118358A>G	uc002kgk.4	+	0		c.1736A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCAGGGAAGACATCATCCCT	0.557000														43			6		0	0	3.59834e-05	0	0
WDR72	256764	broad.mit.edu	37	15	53998206	53998206	+	Silent	SNP	A	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:53998206A>T	uc002acj.2	-	9	1062	c.1020T>A	c.(1018-1020)ctT>ctA	p.L340L	WDR72_uc010bfi.1_Silent_p.L340L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	340										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTCCAGAGAAAAGTACCTTGT	0.393000														26			7		0	0	0.000157383	0	0
TSKS	60385	broad.mit.edu	37	19	50251672	50251672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:50251672C>T	uc002ppm.3	-	2	465	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	152							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTGGTCTTTTCCTTCAAGCTG	0.562000														84			8		0	0	0.000673444	0	0
THRA	7067	broad.mit.edu	37	17	38233777	38233777	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:38233777C>T	uc021twy.1	+	3	694	c.138C>T	c.(136-138)taC>taT	p.Y46Y	THRA_uc010cwp.1_Silent_p.Y46Y|THRA_uc002htv.3_Silent_p.Y46Y|THRA_uc002htw.3_Silent_p.Y46Y|THRA_uc002htx.3_Silent_p.Y46Y	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	46	Modulating.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TCCCTAGTTACCTGGACAAAG	0.537000														98			10		0	0	0.000673444	0	0
GCC1	79571	broad.mit.edu	37	7	127223349	127223349	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:127223349C>T	uc003vma.3	-	1	1465	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	349						Golgi membrane|plasma membrane	protein binding	p.A348T(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAGTTGATCCTCTGCAAGAG	0.507000														97			33		0	0	0.000491102	0	0
THOC2	57187	broad.mit.edu	37	X	122801095	122801095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:122801095G>A	uc004etu.3	-	10	1084	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	THOC2_uc011muh.1_Missense_Mutation_p.A272V|THOC2_uc011mui.1_Missense_Mutation_p.A236V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	351					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTTAATAAGGCTTCCAACAA	0.378000														17			11		0	0	0.00010058	0	0
MCM10	55388	broad.mit.edu	37	10	13228249	13228249	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:13228249A>T	uc001ima.3	+	8	1315	c.1187A>T	c.(1186-1188)aAt>aTt	p.N396I	MCM10_uc001imb.3_Missense_Mutation_p.N395I|MCM10_uc001imc.3_Missense_Mutation_p.N395I	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	396	Zinc finger-like.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGAAGAAGAATGGAGAGCCG	0.428000														39			5		0	0	0.000602214	0	0
EDN1	1906	broad.mit.edu	37	6	12294286	12294286	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:12294286G>A	uc003nae.4	+	2	680	c.346G>A	c.(346-348)Gac>Aac	p.D116N	EDN1_uc003nad.3_Missense_Mutation_p.D116N|EDN1_uc003naf.4_Missense_Mutation_p.D115N	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	116	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TAGCCAAAAAGACAAGAAGTG	0.448000														46			17		0	0	0.000566183	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456296	84456296	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr16:84456296C>T	uc010chj.3	+	8	925	c.836C>T	c.(835-837)gCt>gTt	p.A279V	ATP2C2_uc002fhx.3_Missense_Mutation_p.A279V|ATP2C2_uc002fhy.3_Missense_Mutation_p.A296V|ATP2C2_uc002fhz.3_Missense_Mutation_p.A128V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	279					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ATGATGCAGGCTGAAGAGGTA	0.478000														153			18		0	0	0.000958276	0	0
HSPG2	3339	broad.mit.edu	37	1	22157780	22157780	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:22157780G>A	uc009vqd.3	-	83	11533	c.11493C>T	c.(11491-11493)atC>atT	p.I3831I	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.I3830I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3830	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CATGGAAGACGATCTCCTCGC	0.677000														106			14		0	0	0.000219431	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228829	57228829	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:57228829C>T	uc010lyk.1	-	1	716	c.78G>A	c.(76-78)atG>atA	p.M26I	SDR16C5_uc003xsy.1_Missense_Mutation_p.M26I|SDR16C5_uc010lyl.1_Missense_Mutation_p.M26I	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	26					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						AGGCAAAAATCATAGCCTCCA	0.448000														47			5		0	0	0.000602214	0	0
RARG	5916	broad.mit.edu	37	12	53621300	53621300	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:53621300C>T	uc001scf.3	-	2	522	c.30G>A	c.(28-30)gcG>gcA	p.A10A	RARG_uc001scg.3_Intron|RARG_uc010soc.2_Intron|RARG_uc001sce.3_Silent_p.A10A	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	10	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGGCACCAGCCGCAAAGAGTC	0.672000														20			5		0	0	0.000602214	0	0
XIRP1	165904	broad.mit.edu	37	3	39228016	39228016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:39228016G>A	uc003cjk.2	-	1	3150	c.2921C>T	c.(2920-2922)cCc>cTc	p.P974L	XIRP1_uc003cji.3_Missense_Mutation_p.P974L|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P974L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	974							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCAGTGGGGGAACATGGAT	0.667000														59			10		0	0	0.00010058	0	0
KIAA1199	57214	broad.mit.edu	37	15	81173339	81173339	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:81173339C>T	uc002bfw.1	+	4	739	c.479C>T	c.(478-480)tCc>tTc	p.S160F	KIAA1199_uc010unn.1_Missense_Mutation_p.S160F	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	160	G8.									breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAAAAGCTCTCCTGGACATTT	0.493000														80			23		0	0	0.000295444	0	0
FLG	2312	broad.mit.edu	37	1	152287815	152287815	+	Missense_Mutation	SNP	C	T	T	rs147859388	by1000genomes	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:152287815C>T	uc001ezu.1	-	1	154	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	40	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAAATTCCTTTTCCAGA	0.328000									Ichthyosis					36			4		0	0	0.00024832	0	0
SLC4A1	6521	broad.mit.edu	37	17	42330593	42330593	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr17:42330593G>A	uc002igf.4	-	16	2353	c.2204C>T	c.(2203-2205)gCc>gTc	p.A735V	SLC4A1_uc021tyc.1_Missense_Mutation_p.A369V	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	735	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GAGGGCGTTGGCATGGGTGAC	0.642000														43			6		0	0	3.59834e-05	0	0
C20orf4	25980	broad.mit.edu	37	20	34832830	34832830	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:34832830C>T	uc002xfe.1	+	2	1275	c.969C>T	c.(967-969)ttC>ttT	p.F323F	C20orf4_uc002xfc.2_Silent_p.F323F	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	Homo sapiens chromosome 20 open reading frame 4 (C20orf4), mRNA.	323										central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|skin(1)	14	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)				AAGACAACTTCCTCACCAGCA	0.488000														26			10		0	0	0.000673444	0	0
SRSF9	8683	broad.mit.edu	37	12	120903445	120903445	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:120903445G>A	uc001tyi.3	-	1	480	c.334C>T	c.(334-336)Cga>Tga	p.R112*	SRSF9_uc009zwy.2_Nonsense_Mutation_p.R112*	NM_003769	NP_003760	Q13242	SRSF9_HUMAN	Homo sapiens serine/arginine-rich splicing factor 9 (SRSF9), mRNA.	112	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						ACAAGAACTCGGAAATCAGAT	0.473000														65			8		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308742	140308742	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:140308742C>T	uc003lih.2	+	0	2441	c.2265C>T	c.(2263-2265)ctC>ctT	p.L755L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.L755L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	792					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACTTATCTCTATCGGGCCT	0.478000														88			10		0	0	0.000978159	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524178	24524178	+	Missense_Mutation	SNP	G	A	A	rs146672556	byFrequency	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:24524178G>A	uc002wtw.1	+	1	1078	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	149					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGTCCTACGATGTGGAGGA	0.547000														128			8		0	0	0.000274275	0	0
FBP1	2203	broad.mit.edu	37	9	97382612	97382612	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:97382612C>T	uc004auw.4	-	2	664	c.333_splice	c.e2+1	p.R111_splice	FBP1_uc010mrl.3_Splice_Site_p.R111_splice	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	111					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CAGACCCACCCTTTTCTCCGG	0.468000														54			12		0	0	0.000151284	0	0
SLAMF6	114836	broad.mit.edu	37	1	160460019	160460019	+	Silent	SNP	T	A	A	rs34289021		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:160460019T>A	uc001fwe.2	-	4	835	c.765A>T	c.(763-765)ctA>ctT	p.L255L	SLAMF6_uc010pji.2_Silent_p.L144L|SLAMF6_uc001fwd.2_Silent_p.L255L|SLAMF6_uc010pjh.2_Silent_p.L206L|SLAMF6_uc010pjj.2_Silent_p.L144L	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	255						integral to membrane|plasma membrane	receptor activity	p.S254F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TAGACAAAGATAGGGAATCTG	0.493000														34			5		0	0	0.000602214	0	0
CARD11	84433	broad.mit.edu	37	7	2959008	2959008	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:2959008G>A	uc003smv.3	-	17	2842	c.2508C>T	c.(2506-2508)agC>agT	p.S836S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	836					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGCCTCACCGGCTGTAGCTGG	0.607000			Mis		DLBCL									73			8		0	0	0.000978159	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938316	30938316	+	Splice_Site	SNP	G	A	A	rs112615235	by1000genomes	TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr15:30938316G>A	uc010azv.1	+	11		c.1127_splice	c.e11-1		ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		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)		TTCCTTGGCAGTGGATAAGTT	0.393000														11			3		0	0	6.4e-05	0	0
AFAP1	60312	broad.mit.edu	37	4	7780517	7780517	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:7780517G>A	uc011bwk.1	-	13	2142	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	AFAP1_uc003gkg.1_Silent_p.P539P|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	573	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	p.R623W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CAACAGCCGCGGGATCCGCTT	0.532000														192			21		0	0	0.000295444	0	0
DENND3	22898	broad.mit.edu	37	8	142178404	142178404	+	Silent	SNP	C	T	T	rs139726064		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr8:142178404C>T	uc003yvy.3	+	12	2093	c.1815C>T	c.(1813-1815)gcC>gcT	p.A605A	DENND3_uc010mep.3_Silent_p.A566A|DENND3_uc003yvz.1_Silent_p.A289A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	605										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCATGTCTGCCCCTGAGTGGG	0.572000														100			10		0	0	0.000673444	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349981	134349981	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:134349981C>T	uc003qem.1	-	1	1153	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	328						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.K327N(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGCTAATGACCTTGACGACT	0.488000														26			5		0	0	0.000602214	0	0
AMBN	258	broad.mit.edu	37	4	71467326	71467326	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:71467326G>A	uc003hfl.3	+	5	587	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	162					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AACTGCCTCTGGTTCAGCAGC	0.512000											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			4		0	0	0.000602214	0	0
CISD2	493856	broad.mit.edu	37	4	103806372	103806372	+	Splice_Site	SNP	G	C	C			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:103806372G>C	uc003hwt.4	+	2	211	c.104_splice	c.e2-1	p.V35_splice	SLC9B1_uc003hwu.3_3'UTR|SLC9B1_uc010ilm.3_3'UTR|SLC9B1_uc003hwv.3_Non-coding_Transcript	NM_001008388	NP_001008389	Q8N5K1	CISD2_HUMAN	Homo sapiens CDGSH iron sulfur domain 2 (CISD2), mRNA.	35					multicellular organismal aging|regulation of autophagy	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|protein complex	2 iron, 2 sulfur cluster binding|metal ion binding|protein homodimerization activity			endometrium(1)|lung(3)	4				OV - Ovarian serous cystadenocarcinoma(123;1.97e-08)		TACATGTTTAGTTTCAGAATG	0.403000														130			14		0	0	0.000219431	0	0
EP400	57634	broad.mit.edu	37	12	132547144	132547144	+	Silent	SNP	G	A	A	rs66689119		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:132547144G>A	uc001ujn.3	+	46	8384	c.8232G>A	c.(8230-8232)caG>caA	p.Q2744Q	EP400_uc021rgq.1_Silent_p.Q2743Q|EP400_uc001ujm.3_Silent_p.Q2663Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2780	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcaacagcagcagcagcaac	0.607000														42			8		0	0	0.000274275	0	0
TCRA	0	broad.mit.edu	37	14	22363023	22363023	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr14:22363023C>A	uc021rpj.1	+	1	325	c.154C>A	c.(154-156)Ctc>Atc	p.L52I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron					RecName: Full=T-cell receptor alpha chain V region PY14; Flags: Precursor;																		TCCACCATATCTCTTCTGGTA	0.542000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			8		3.09899e-07	2.74564e-06	0.000274275	1	0
MICALL2	79778	broad.mit.edu	37	7	1474304	1474304	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:1474304G>A	uc003skj.4	-	16	2790	c.2643C>T	c.(2641-2643)ctC>ctT	p.L881L	MICALL2_uc003ski.4_Missense_Mutation_p.P367S	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	881						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		TCTTCCTCTGGAGGCCTAGGG	0.617000														72			12		0	0	0.000151284	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776698	159776698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:159776698C>T	uc003lyd.3	-	2	474	c.470G>A	c.(469-471)gGg>gAg	p.G157E		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	112	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTGACCCCCTTGGGGCC	0.687000														93			16		0	0	0.000422831	0	0
CADPS2	93664	broad.mit.edu	37	7	121960249	121960249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:121960249C>T	uc022akp.1	-	28	4283	c.3861G>A	c.(3859-3861)atG>atA	p.M1287I	CADPS2_uc003vkg.4_Missense_Mutation_p.M941I|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.M1246I|CADPS2_uc022akr.1_Missense_Mutation_p.M1287I	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1287					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CACTGTCTTTCATAGTAATGC	0.423000														65			7		0	0	8.12818e-05	0	0
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:167592605T>G	uc010kkp.3	+	5	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582000														17			3		0	0	6.4e-05	0	0
HDAC11	79885	broad.mit.edu	37	3	13522850	13522850	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:13522850C>T	uc003bxy.3	+	1	240	c.107C>T	c.(106-108)cCc>cTc	p.P36L	HDAC11_uc010heb.3_Missense_Mutation_p.P8L|HDAC11_uc011aux.2_5'UTR|HDAC11_uc011auy.2_Missense_Mutation_p.P8L	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	36	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						AAGCTGCATCCCTTTGATGCC	0.542000														78			8		0	0	0.000442599	0	0
UPB1	51733	broad.mit.edu	37	22	24896102	24896102	+	Silent	SNP	C	T	T	rs9620392		TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:24896102C>T	uc003aaf.3	+	1	1427	c.132C>T	c.(130-132)ttC>ttT	p.F44F	UPB1_uc003aae.3_Intron	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	44					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GGGAAGCTTTCGAAGCTGCCT	0.527000														90			6		0	0	0.000157383	0	0
OR1I1	126370	broad.mit.edu	37	19	15198338	15198338	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr19:15198338C>T	uc010xoe.2	+	0	462	c.462C>T	c.(460-462)ctC>ctT	p.L154L		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TCACCAACCTCCAGTCTCTCA	0.562000														33			5		0	0	3.59834e-05	0	0
CCKBR	887	broad.mit.edu	37	11	6292680	6292680	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr11:6292680C>T	uc001mcp.3	+	4	1506	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	CCKBR_uc001mcq.3_Silent_p.P345P|CCKBR_uc001mcr.3_Silent_p.P400P|CCKBR_uc001mcs.3_Silent_p.P486P	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	417					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCTCGCCCCAGGGCTCTTC	0.642000														58			9		0	0	0.000274275	0	0
PER2	8864	broad.mit.edu	37	2	239184504	239184504	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:239184504C>T	uc002vyc.3	-	3	565	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PER2_uc010znv.1_Missense_Mutation_p.E110K|PER2_uc010znw.1_Missense_Mutation_p.E110K|PER2_uc010fyx.1_Missense_Mutation_p.E110K	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	110					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTTATCAGTTCTTTGTGTGTG	0.507000														100			9		0	0	0.000274275	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:70885994G>A	uc003tvy.3	+	4	865	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(2)|p.E289G(1)		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)				GCAGCGGTACGAGAACTCGGC	0.587000														79			18		0	0	0.000566183	0	0
PVALB	5816	broad.mit.edu	37	22	37211241	37211241	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr22:37211241C>T	uc010gwz.3	-	1	130	c.100G>A	c.(100-102)Gtc>Atc	p.V34I	PVALB_uc003apx.3_Missense_Mutation_p.V34I	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTCAGGCCGACCATTTGGAAG	0.517000														52			9		0	0	0.000442599	0	0
PET112	5188	broad.mit.edu	37	4	152679989	152679989	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:152679989G>A	uc003iml.3	-	1	303	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PET112_uc003imm.4_Missense_Mutation_p.R88C	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	88						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGAAAAGCGAACTTGAGAT	0.383000														92			7		0	0	0.000274275	0	0
DDX4	54514	broad.mit.edu	37	5	55110772	55110772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:55110772C>T	uc003jqg.4	+	19	1858	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DDX4_uc010ivz.3_Missense_Mutation_p.R567C|DDX4_uc003jqh.4_Missense_Mutation_p.R553C|DDX4_uc003jqj.3_Missense_Mutation_p.R438C	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	587	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGATTTTCGCTTTGGAAA	0.403000														49			5		0	0	3.59834e-05	0	0
AEBP1	165	broad.mit.edu	37	7	44146195	44146195	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr7:44146195G>A	uc003tkb.3	+	1	609	c.304G>A	c.(304-306)Ggc>Agc	p.G102S		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	102	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAAAGACAAAGGCCCCAAGGT	0.577000														31			10		0	0	0.00010058	0	0
HEPH	9843	broad.mit.edu	37	X	65409641	65409641	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chrX:65409641C>T	uc011moz.2	+	5	1223	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	HEPH_uc004dwn.3_Silent_p.F311F|HEPH_uc004dwo.3_Silent_p.F41F|HEPH_uc010nkr.3_Silent_p.F311F|HEPH_uc011mpa.2_Silent_p.F311F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	308	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CAGCATTTTTCCATGGACAGA	0.493000														12			4		0	0	0.00024832	0	0
CAPN10	11132	broad.mit.edu	37	2	241533417	241533417	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr2:241533417C>T	uc002vzk.2	+	4	979	c.783C>T	c.(781-783)atC>atT	p.I261I	CAPN10_uc010zoh.2_Silent_p.I261I|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Silent_p.I261I|CAPN10_uc002vzn.2_Silent_p.I133I|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	261	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGCTGCGGATCCAGAACCCCT	0.697000														99			12		0	0	0.000151284	0	0
TIFAB	497189	broad.mit.edu	37	5	134785454	134785454	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr5:134785454G>A	uc003law.4	-	1	377	c.176C>T	c.(175-177)tCc>tTc	p.S59F	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.S59F	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	59	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCTCCAGGGACAGGTGACG	0.672000														48			5		0	0	0.000602214	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280764	32280764	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr1:32280764C>T	uc001bts.1	-	1	229	c.171G>A	c.(169-171)agG>agA	p.R57R	SPOCD1_uc001btu.3_Silent_p.R57R|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	57					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGGGGATCTTCCTTCTGCTGC	0.637000														33			4		0	0	0.00024832	0	0
PCDH8	5100	broad.mit.edu	37	13	53420310	53420310	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr13:53420310G>A	uc001vhi.3	-	0	2466	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	PCDH8_uc001vhj.3_Silent_p.I754I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	754					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGGCCAGCACGATGATGACGA	0.701000														114			8		0	0	0.000151284	0	0
UNC5B	219699	broad.mit.edu	37	10	73057761	73057761	+	Silent	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr10:73057761C>T	uc001jro.3	+	15	3037	c.2586C>T	c.(2584-2586)atC>atT	p.I862I	UNC5B_uc001jrp.3_Silent_p.I851I	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	862					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CACTGTCCATCCGCCAGAAGA	0.572000														49			5		0	0	0.000602214	0	0
CLRN2	645104	broad.mit.edu	37	4	17528679	17528679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr4:17528679G>A	uc003gpg.1	+	2	775	c.673G>A	c.(673-675)Gtc>Atc	p.V225I		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	225						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAGGCCACGGTCACAGCTGA	0.512000														69			6		0	0	3.59834e-05	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760843	70760843	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr12:70760843A>G	uc001svx.3	+	0	782	c.329A>G	c.(328-330)aAc>aGc	p.N110S		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	110					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTCCTGACCAACCCCAAGGTA	0.662000														44			7		0	0	8.12818e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52198559	52198559	+	Silent	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr20:52198559G>A	uc002xwq.4	-	0	1149	c.807C>T	c.(805-807)ttC>ttT	p.F269F	ZNF217_uc010gij.1_Silent_p.F261F	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	269					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTCTCAAGTTGAACAACTGCA	0.547000														136			21		0	0	0.000175454	0	0
IFNA21	3452	broad.mit.edu	37	9	21166363	21166363	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr9:21166363C>T	uc003zom.2	-	0	297	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	83					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTGCTGGATCATCTCATGGA	0.488000														40			6		0	0	3.59834e-05	0	0
SETD2	29072	broad.mit.edu	37	3	47144868	47144868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr3:47144868G>A	uc003cqv.3	-	7	5172	c.5086C>T	c.(5086-5088)Cac>Tac	p.H1696Y	SETD2_uc003cqs.3_Missense_Mutation_p.H1629Y	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.H1629Y(2)|p.H1126Y(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCACAGCTGTGATTCATGAAA	0.333000			"""N, F, S, Mis"""		clear cell renal carcinoma									47			7		0	0	0.000673444	0	0
TBP	6908	broad.mit.edu	37	6	170871246	170871246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J9-06A-11D-A196-08	TCGA-D3-A2J9-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94d106c8-8fa9-49f4-b013-58b3909fa36a	df57dd72-f54c-4f51-a259-dd5b7f5fba12	g.chr6:170871246C>T	uc003qxu.3	+	2	701	c.422C>T	c.(421-423)tCc>tTc	p.S141F	TBP_uc011ehf.2_Missense_Mutation_p.S121F|TBP_uc003qxt.3_Missense_Mutation_p.S141F|TBP_uc011ehg.1_Missense_Mutation_p.S141F	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	141					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		CTGTATCCCTCCCCCATGACT	0.577000														35			7		0	0	0.000157383	0	0