Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MAP3K19	80122	broad.mit.edu	37	2	135744393	135744393	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:135744393C>T	ENST00000375845.3	-	7	2079	c.2049G>A	c.(2047-2049)acG>acA	p.T683T	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.T700T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.T570T|MAP3K19_ENST00000315513.3_5'UTR	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CACGGTAATACGTGTTTTCAT	0.413000													22	192					0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20044958	20044958	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:20044958A>T	ENST00000343769.5	+	4	1222	c.1194A>T	c.(1192-1194)aaA>aaT	p.K398N	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGCCCTACAAATGTGAAGAAT	0.403000													14	81					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37903577	37903577	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:37903577G>A	ENST00000316950.6	-	6	2540	c.1983C>T	c.(1981-1983)ccC>ccT	p.P661P	ZNF569_ENST00000392149.2_Silent_p.P661P|ZNF569_ENST00000392150.2_Silent_p.P502P	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAGTGATAGGGCTTCTCAC	0.403000													11	155					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88930360	88930360	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:88930360T>C	ENST00000298786.4	+	5	1873	c.1759T>C	c.(1759-1761)Ttg>Ctg	p.L587L	FAM35A_ENST00000298784.1_Silent_p.L587L			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	587										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTTTGTAGAATTGGAGCACCT	0.413000													30	91					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72335422	72335422	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:72335422G>T	ENST00000333850.3	+	2	305	c.164G>T	c.(163-165)cGt>cTt	p.R55L	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	55			R -> C (the property of the variant is indistinguishable from the wild-type).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCAGCAAACGTGAAGCTGCT	0.408000													14	89					3.27435e-08	3.58409e-08	1	1	0
CATSPERD	257062	broad.mit.edu	37	19	5749195	5749195	+	Splice_Site	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:5749195G>A	ENST00000381624.3	+	11	1048		c.e11+1		CATSPERD_ENST00000381614.2_Splice_Site	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta							integral to membrane											CATAATCAAAGTAGGTAAAAA	0.478000													6	47					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084287	17084287	+	RNA	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:17084287C>T	ENST00000455405.2	-	0	521																											ACACTTGGTCCCTGGAGGCAC	0.582000													9	546					0	0	1	0	0
SNAPC3	6619	broad.mit.edu	37	9	15447132	15447132	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:15447132G>T	ENST00000380821.3	+	5	798	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	SNAPC3_ENST00000380799.1_Missense_Mutation_p.G5C	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	208					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GCTGGTGTTGGGCAGTCAAAA	0.413000													26	372					3.28513e-13	3.7744e-13	1	1	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													3	57					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378296	16378296	+	Silent	SNP	A	A	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622000													4	137					0	0	1	0	0
FAM134A	79137	broad.mit.edu	37	2	220045437	220045437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:220045437G>T	ENST00000430297.2	+	5	737	c.601G>T	c.(601-603)Gga>Tga	p.G201*		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	201						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGTGTTGGGACACTATGT	0.498000													32	213					2.20474e-14	2.56955e-14	1	1	0
APOB	338	broad.mit.edu	37	2	21225795	21225795	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:21225795G>A	ENST00000233242.1	-	29	12626	c.12499C>T	c.(12499-12501)Ctc>Ttc	p.L4167F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4167					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTATCCTTGAGTCCCTGGAAA	0.478000													11	121					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78471001	78471001	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:78471001G>A	ENST00000258873.4	-	11	1862	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R311C|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R311C	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	553					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGTCCAGGCGGCCAGCATCA	0.617000													8	20					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161993074	161993074	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:161993074C>T	ENST00000294794.3	-	1	570	c.147G>A	c.(145-147)gcG>gcA	p.A49A	OLFML2B_ENST00000367940.2_Silent_p.A49A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	49										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCTGGTTGTCCGCCTCGTTTT	0.602000													4	130					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3182292	3182292	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:3182292A>G	ENST00000355072.5	+	36	4808	c.4663A>G	c.(4663-4665)Aca>Gca	p.T1555A		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1555					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATTAAGAGGAACAAATAAAGC	0.443000													23	111					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87302902	87302902	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:87302902C>T	ENST00000263780.4	+	6	810	c.572C>T	c.(571-573)gCc>gTc	p.A191V	CHMP2B_ENST00000494980.1_Missense_Mutation_p.A161V|CHMP2B_ENST00000471660.1_Missense_Mutation_p.A150V	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	191					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TTACCATCTGCCTCTACTTCA	0.388000													9	48					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183529314	183529314	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:183529314A>G	ENST00000413720.1	-	13	1524	c.1250T>C	c.(1249-1251)gTg>gCg	p.V417A	NCF2_ENST00000367536.1_Missense_Mutation_p.V462A|NCF2_ENST00000367535.3_Missense_Mutation_p.V462A|NCF2_ENST00000418089.1_Missense_Mutation_p.V381A	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	462	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GAGTGCCTCCACTTGGCTGCC	0.468000													38	184					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606535	55606535	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606535T>G	ENST00000378396.1	+	1	308	c.308T>G	c.(307-309)tTc>tGc	p.F103C		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGGTGCAATTCTTTTTCTTT	0.413000													45	206					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433356	55433356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55433356C>A	ENST00000314259.3	+	1	743	c.714C>A	c.(712-714)tgC>tgA	p.C238*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTCTACCTGCAGCTCCCACC	0.502000													22	155					2.70639e-06	2.86559e-06	1	1	0
ZNF80	7634	broad.mit.edu	37	3	113955277	113955277	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:113955277C>A	ENST00000482457.2	-	1	1148	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	215						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCGTAGGGCTTTCCTGCAG	0.493000													14	134					6.31663e-08	6.82196e-08	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156390192	156390192	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:156390192G>A	ENST00000274532.2	-	1	74	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TIMD4_ENST00000407087.3_Silent_p.L6L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	6						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGAGAATGAGAGGTTCTT	0.453000													17	98					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114820	53114820	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53114820A>T	ENST00000375442.4	+	6	1378	c.1246A>T	c.(1246-1248)Agg>Tgg	p.R416W		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	416					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CAGTAAAACCAGGGGCAGATG	0.488000													18	39					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73453969	73453969	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:73453969G>T	ENST00000224721.6	+	20	2262	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S	CDH23_ENST00000299366.7_Missense_Mutation_p.A793S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627000													8	28					7.48243e-07	7.97469e-07	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672000													6	111					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100808	89100808	+	RNA	SNP	C	C	A	rs112658022		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:89100808C>A	ENST00000393525.3	+	0	1282																											TGAAAAAAAGCAAGCAGAAAG	0.313000													3	27					0.0293803	0.0295628	1	1	0
USP34	9736	broad.mit.edu	37	2	61441266	61441266	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:61441266G>C	ENST00000398571.2	-	68	8687	c.8611C>G	c.(8611-8613)Caa>Gaa	p.Q2871E	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2871					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAAGCCAGTTGTCGTGTGAAT	0.478000													16	60					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522481	23522481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:23522481G>T	ENST00000296682.3	+	7	759	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	193					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGCATACAAAGAGGTCAGCGA	0.443000										HNSCC(3;0.000094)			42	208					1.76056e-25	2.12843e-25	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77700111	77700111	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:77700111C>A	ENST00000296043.6	+	11	6725	c.5772C>A	c.(5770-5772)ttC>ttA	p.F1924L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1924	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCAGCACTTCGTGAAAATGA	0.567000													47	106					3.05275e-18	3.60982e-18	1	1	0
GGT5	2687	broad.mit.edu	37	22	24616059	24616059	+	Missense_Mutation	SNP	C	C	A	rs141036787	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:24616059C>A	ENST00000327365.4	-	12	2056	c.1640G>T	c.(1639-1641)cGt>cTt	p.R547L	GGT5_ENST00000398292.3_Missense_Mutation_p.R548L|GGT5_ENST00000418439.2_Missense_Mutation_p.R471L|GGT5_ENST00000263112.7_Missense_Mutation_p.R515L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	547					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTTCTGGCCACGGTCTTGGAG	0.627000													5	57					0.014758	0.0149425	1	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652000													5	457					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100816	89100816	+	RNA	SNP	A	A	G	rs148138279	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:89100816A>G	ENST00000393525.3	+	0	1290																											AGCAAGCAGAAAGAGAAGTAA	0.303000													3	25					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918253	48918253	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:48918253G>A	ENST00000311378.4	+	2	2132	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.G442D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	535	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAGGTGGACGGCGGCATGGCC	0.632000													15	45					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81735383	81735383	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:81735383G>A	ENST00000537098.3	+	16	1946	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CMIP_ENST00000398040.4_Missense_Mutation_p.R472Q|CMIP_ENST00000539778.2_Missense_Mutation_p.R531Q|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	591						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CTGTGTGACCGGCAGCGGGAG	0.637000													5	228					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324335	44324335	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:44324335G>T	ENST00000354250.2	+	3	1282	c.1213G>T	c.(1213-1215)Gag>Tag	p.E405*	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	40					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	GGCCGAGGGCGAGGCCATGGA	0.572000													7	23					0.00198382	0.002047	1	1	0
INPP4A	3631	broad.mit.edu	37	2	99169316	99169316	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:99169316G>A	ENST00000074304.5	+	15	1639	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	INPP4A_ENST00000523221.1_Missense_Mutation_p.A416T|INPP4A_ENST00000409851.3_Missense_Mutation_p.A411T|INPP4A_ENST00000409540.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409016.3_Missense_Mutation_p.A416T|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Missense_Mutation_p.A416T	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	416					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GGAGATCATCGCCCAGATCAA	0.517000													7	44					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114093	147114093	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:147114093G>T	ENST00000383075.3	-	3	746	c.234C>A	c.(232-234)ttC>ttA	p.F78L	ZIC4_ENST00000525172.2_Missense_Mutation_p.F128L|ZIC4_ENST00000484399.1_Missense_Mutation_p.F78L|ZIC4_ENST00000425731.3_Missense_Mutation_p.F116L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000473123.1_Missense_Mutation_p.F78L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	78						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCCTGGCGGGAAGGGCTCCG	0.721000													5	45					0.014758	0.0149425	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78294107	78294107	+	Missense_Mutation	SNP	G	G	A	rs151220884	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:78294107G>A	ENST00000255189.3	-	16	2427	c.2399C>T	c.(2398-2400)aCg>aTg	p.T800M		NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	800					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCAGATGTCGTGTTGCCAAC	0.458000													6	20					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19213237	19213237	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:19213237G>A	ENST00000314728.5	+	5	1290	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	EPN2_ENST00000395626.1_Missense_Mutation_p.R269Q|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395620.2_Missense_Mutation_p.R212Q|EPN2_ENST00000347697.2_Missense_Mutation_p.R212Q|EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000571254.1_Missense_Mutation_p.R212Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	269					endocytosis		lipid binding	p.R269P(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGCAAGCCCGGCCCCAGACT	0.597000													4	137					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21364064	21364064	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:21364064G>C	ENST00000313654.9	+	12	1787	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.E516Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	516	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTGGGGTTGAGGGCCCTCG	0.507000													24	138					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20706380	20706380	+	Splice_Site	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:20706380A>T	ENST00000406935.1	+	6	918		c.e6-1		ABCB5_ENST00000258738.6_Intron|ABCB5_ENST00000404938.2_Intron	NM_001163993.1	NP_001157465.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGTATTTTCTAGAAAAAATAA	0.333000													3	23					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747425	158747425	+	Splice_Site	SNP	T	T	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:158747425T>G	ENST00000339258.1	-	1	0	c.0_splice	c.e1-1	p.M1_splice		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TATTGATCCATGGGAGGCTGA	0.438000													15	63					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134265027	134265027	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:134265027C>T	ENST00000337090.3	+	8	999	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	CEP63_ENST00000383229.3_Missense_Mutation_p.L276F|CEP63_ENST00000354446.3_Missense_Mutation_p.L276F|CEP63_ENST00000332047.5_Missense_Mutation_p.L276F|CEP63_ENST00000606977.1_Missense_Mutation_p.L276F|CEP63_ENST00000513612.2_Missense_Mutation_p.L276F			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	276					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGGCAGCTCTTCAGTCTCA	0.358000													30	75					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60103901	60103901	+	Splice_Site	SNP	T	T	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:60103901T>A	ENST00000371218.4	+	11	1259	c.1073_splice	c.e11-1	p.C359_splice	FGGY_ENST00000371212.1_Splice_Site_p.C271_splice|FGGY_ENST00000371210.1_Splice_Site_p.C60_splice|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000303721.7_Splice_Site_p.C359_splice	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	359					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CTCTTCCAGATGCCAGAGTAT	0.393000													36	91					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73720804	73720804	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:73720804C>G	ENST00000200181.3	+	2	208	c.21C>G	c.(19-21)agC>agG	p.S7R	ITGB4_ENST00000579662.1_Missense_Mutation_p.S7R|ITGB4_ENST00000450894.3_Missense_Mutation_p.S7R|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.S7R|ITGB4_ENST00000339591.3_Missense_Mutation_p.S7R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	7					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACGCCCCAGCCCATGGGCCA	0.632000													14	75					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49440158	49440158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:49440158C>A	ENST00000301067.7	-	16	4467	c.4468G>T	c.(4468-4470)Gaa>Taa	p.E1490*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TTCTGCCATTCACAGTGGAAG	0.537000													23	108					2.21704e-12	2.52929e-12	1	1	0
NCOR2	9612	broad.mit.edu	37	12	124856695	124856695	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:124856695C>T	ENST00000356219.3	-	21	2835	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	NCOR2_ENST00000404121.2_Missense_Mutation_p.E447K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E877K|NCOR2_ENST00000404621.1_Missense_Mutation_p.E876K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E876K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E894K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	894					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCTTCTTCTCTGCCTTGAGC	0.711000													28	105					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103338797	103338797	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:103338797G>A	ENST00000520539.1	-	13	2182	c.1576C>T	c.(1576-1578)Ccg>Tcg	p.P526S	UBR5_ENST00000521922.1_Missense_Mutation_p.P520S|UBR5_ENST00000220959.4_Missense_Mutation_p.P526S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	526					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTGATGTTCGGCATTGAAGAA	0.393000													13	126					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62369957	62369957	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:62369957G>A	ENST00000309546.3	+	6	679	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCAGGTGGACGTCCTGTACTC	0.672000													7	38					0	0	1	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077655	32077655	+	RNA	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:32077655C>A	ENST00000354689.6	+	0	270				RP11-1166P10.6_ENST00000566806.1_RNA																							GAGCCGAGGACACGGCTGTGT	0.542000													57	835					9.53978e-28	1.16199e-27	1	1	0
CXCR5	643	broad.mit.edu	37	11	118765167	118765167	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:118765167C>T	ENST00000292174.4	+	2	1090	c.914C>T	c.(913-915)aCc>aTc	p.T305I	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	305					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GTGGCCATCACCATGTGTGAG	0.612000													15	112					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													5	89					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803592	76803592	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:76803592C>A	ENST00000312010.6	-	14	1858	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	USP36_ENST00000542802.2_Missense_Mutation_p.G512W|USP36_ENST00000449938.2_Missense_Mutation_p.G212W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	512					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAAGGGGACCCCGAGGGCAGC	0.587000													11	57					4.68919e-08	5.09831e-08	1	1	0
BCKDHB	594	broad.mit.edu	37	6	80910677	80910677	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:80910677A>G	ENST00000320393.6	+	7	816	c.769A>G	c.(769-771)Aac>Gac	p.N257D	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.N257D	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	257					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AGAACCATACAACATCCCACT	0.408000													7	61					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703543	66703543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:66703543C>T	ENST00000247815.4	+	4	894	c.835C>T	c.(835-837)Cag>Tag	p.Q279*		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	279					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCATTTTGTCAGTGTGAGTC	0.383000													35	142					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108369	168108369	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:168108369A>T	ENST00000409195.1	+	9	10556	c.10467A>T	c.(10465-10467)agA>agT	p.R3489S	XIRP2_ENST00000409273.1_Missense_Mutation_p.R3267S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3489S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3314					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGTGGAAGAGTTTTTAAAG	0.393000													8	82					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103417017	103417017	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:103417017C>T	ENST00000424685.2	-	4	690	c.531G>A	c.(529-531)ttG>ttA	p.L177L	RELN_ENST00000428762.1_Silent_p.L177L|RELN_ENST00000343529.5_Silent_p.L177L			P78509	RELN_HUMAN	reelin	177	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTTGTTCACACAACTGCTGGG	0.398000													13	115					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461265	11461265	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:11461265C>T	ENST00000279575.1	-	3	685	c.652G>A	c.(652-654)Gca>Aca	p.A218T	PRB4_ENST00000445719.2_Missense_Mutation_p.A149T|PRB4_ENST00000535904.1_Missense_Mutation_p.A218T	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	281	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCAGGAGGTGCCTGAGGCTGC	0.642000										HNSCC(22;0.051)			77	286					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584334	101584334	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:101584334C>G	ENST00000536262.2	-	6	1303	c.745G>C	c.(745-747)Ggg>Cgg	p.G249R		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	249					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGGTCCCTCCTATAATA	0.393000													6	89					0	0	1	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652280	45652280	+	RNA	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:45652280C>G	ENST00000427229.2	+	0	1794																											GAAAGAACACCTGACATGGCT	0.463000													7	26					0	0	1	0	0
IQCJ	654502	broad.mit.edu	37	3	158983040	158983040	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:158983040A>T	ENST00000482126.1	+	4	352	c.247A>T	c.(247-249)Atc>Ttc	p.I83F	IQCJ_ENST00000451172.1_Missense_Mutation_p.I110F|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TCATCCTTACATCTCTTGGAG	0.468000													30	220					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72668115	72668115	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:72668115G>A	ENST00000268097.5	-	1	702	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Missense_Mutation_p.R67C|HEXA_ENST00000566304.1_Missense_Mutation_p.R67C|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	67					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TCACGATAGCGCTGGAAGGCC	0.617000													45	248					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438130	23438130	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:23438130G>T	ENST00000248996.4	+	2	914	c.248G>T	c.(247-249)cGc>cTc	p.R83L	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	83						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TCGCTGACCCGCATCATCCGG	0.622000													66	334					6.2918e-36	7.7807e-36	1	1	0
ARNTL	406	broad.mit.edu	37	11	13391307	13391307	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13391307G>A	ENST00000389708.3	+	12	1168	c.813G>A	c.(811-813)aaG>aaA	p.K271K	ARNTL_ENST00000361003.4_Silent_p.K271K|ARNTL_ENST00000403290.1_Silent_p.K271K|ARNTL_ENST00000401424.1_Silent_p.K228K|ARNTL_ENST00000403510.3_Silent_p.K228K|ARNTL_ENST00000389707.4_Silent_p.K271K|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000403482.3_Silent_p.K269K|ARNTL_ENST00000396441.3_Silent_p.K271K			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	271					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K271N(1)		breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CCTGCTCAAAGAAAAAAGGTA	0.458000													5	92					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796372	57796372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:57796372C>T	ENST00000309042.7	+	4	1662	c.1348C>T	c.(1348-1350)Caa>Taa	p.Q450*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	450	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAATAGAACAAACAAAAAT	0.323000													23	57					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:29628233A>G	ENST00000278882.3	+	6	615	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V|FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363000													4	236					0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31098884	31098884	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:31098884G>A	ENST00000280606.6	-	3	369	c.216C>T	c.(214-216)gtC>gtT	p.V72V	RP11-196G11.1_ENST00000529564.1_Silent_p.V147V	NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	72	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGCAGTGAGGACCCAGGTGT	0.622000													5	22					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32798443	32798443	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:32798443T>C	ENST00000374897.2	-	8	1544	c.1413A>G	c.(1411-1413)caA>caG	p.Q471Q	TAP2_ENST00000374899.4_Silent_p.Q471Q|TAP2_ENST00000452392.2_Silent_p.Q471Q	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	471	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGGAGACGTCTTGGAATTTCA	0.552000													8	53					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17126399	17126399	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:17126399C>A	ENST00000377833.4	-	17	2237	c.2172G>T	c.(2170-2172)ttG>ttT	p.L724F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	724	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGCCCAGACAACTCAGGCA	0.527000													10	27					0.000442599	0.000465592	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124345706	124345706	+	Silent	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124345706G>T	ENST00000368909.3	+	16	1696	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.V520V|DMBT1_ENST00000368955.3_Silent_p.V520V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Silent_p.V530V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	530	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATGCCAATGTGGTCTGCAGGC	0.612000													89	651					2.63401e-43	3.30783e-43	1	1	0
CNDP1	84735	broad.mit.edu	37	18	72229309	72229309	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr18:72229309A>G	ENST00000582365.1	+	4	431	c.365A>G	c.(364-366)gAc>gGc	p.D122G	RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000358821.3_Missense_Mutation_p.D165G|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	165					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GGAGCGACCGACAACAAAGGC	0.507000													8	45					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116427276	116427276	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:116427276C>G	ENST00000395715.3	-	7	3437	c.2860G>C	c.(2860-2862)Ggt>Cgt	p.G954R	TRPS1_ENST00000519076.1_Missense_Mutation_p.G695R|TRPS1_ENST00000520276.1_Missense_Mutation_p.G945R|TRPS1_ENST00000220888.5_Missense_Mutation_p.G941R	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	941					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGCTCACCGTTGTTTTGT	0.403000									Langer-Giedion syndrome				24	185					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	156					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535283	90535283	+	RNA	SNP	T	T	C	rs118048695	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:90535283T>C	ENST00000602681.1	+	0	1187																											CATGAGCCTATGGAAGATGCT	0.582000													7	367					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196842858	196842858	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:196842858G>C	ENST00000346964.2	-	14	1671	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	DLG1_ENST00000357674.4_Missense_Mutation_p.I461M|DLG1_ENST00000314062.3_Missense_Mutation_p.I443M|DLG1_ENST00000392382.2_Missense_Mutation_p.I461M|DLG1_ENST00000422288.1_Missense_Mutation_p.I443M|DLG1_ENST00000443183.1_Missense_Mutation_p.I378M|DLG1_ENST00000419354.1_Missense_Mutation_p.I494M|DLG1_ENST00000450955.1_Missense_Mutation_p.I461M|DLG1_ENST00000452595.1_Missense_Mutation_p.I378M|DLG1_ENST00000448528.2_Missense_Mutation_p.I494M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	494	PDZ 3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCGGCTAAGATAAAGGAAA	0.408000													19	162					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141874446	141874446	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:141874446C>T	ENST00000522684.1	-	5	644	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PTK2_ENST00000395218.2_Missense_Mutation_p.E139K|PTK2_ENST00000517887.1_Missense_Mutation_p.E183K|PTK2_ENST00000340930.3_Missense_Mutation_p.E139K|PTK2_ENST00000519419.1_Missense_Mutation_p.E183K|PTK2_ENST00000535192.1_Missense_Mutation_p.E139K|PTK2_ENST00000521059.1_Missense_Mutation_p.E139K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	139	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCTTATCTTCAGTAAACTGG	0.274000													41	82					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857643	124857643	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124857643G>T	ENST00000529051.1	+	8	1780	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q507H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	507						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CTAAGGACCAGAATTTTTTGT	0.388000													61	293					2.53126e-37	3.15434e-37	1	1	0
SOS1	6654	broad.mit.edu	37	2	39237832	39237832	+	Silent	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:39237832T>C	ENST00000426016.1	-	16	2489	c.2403A>G	c.(2401-2403)ccA>ccG	p.P801P	SOS1_ENST00000395038.2_Silent_p.P801P|SOS1_ENST00000402219.2_Silent_p.P801P			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	801	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTAATTCTGATGGCTGTACAG	0.323000									Noonan syndrome				4	42					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427830	3427830	+	RNA	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:3427830G>A	ENST00000529482.1	+	0	947																											TGTGTGTGCCGTGAACTTCAA	0.582000													5	76					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358528	124358528	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr10:124358528C>A	ENST00000368909.3	+	26	3301	c.3195C>A	c.(3193-3195)caC>caA	p.H1065Q	DMBT1_ENST00000330163.4_Missense_Mutation_p.H566Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.H566Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.H1055Q|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.H1065Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1065	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACACGAGTCTTACC	0.597000													28	176					8.24728e-16	9.68159e-16	1	1	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGTGGGGGCAGCGCCTCAC	0.652000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	74					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686719	54686719	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54686719G>A	ENST00000540264.2	-	2	1070	c.561C>T	c.(559-561)aaC>aaT	p.N187N	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.N187N|NFE2_ENST00000435572.2_Silent_p.N187N|NFE2_ENST00000312156.4_Silent_p.N187N			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	187	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGGCCAAGGAGTTGGGCATGA	0.607000													20	117					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121427176	121427176	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:121427176G>T	ENST00000275159.6	-	31	3580	c.3581C>A	c.(3580-3582)cCa>cAa	p.P1194Q	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.P1153Q					TBC1 domain family, member 32																		TACCTGTGATGGTGCAAAACC	0.373000													32	318					1.36615e-20	1.62732e-20	1	1	0
DEFB119	245932	broad.mit.edu	37	20	29965130	29965130	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:29965130C>T	ENST00000376321.3	-	2	293	c.174G>A	c.(172-174)caG>caA	p.Q58Q	DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_3'UTR	NM_153289.2	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	58					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCATGTAGGACTGGAGGCAGC	0.468000													25	127					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44271136	44271136	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:44271136G>A	ENST00000244571.4	-	15	2034	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	678					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCACTGCCCGGAGCTGCTCT	0.622000													5	71					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196309639	196309639	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:196309639C>A	ENST00000367433.5	-	16	1716	c.1615G>T	c.(1615-1617)Ggt>Tgt	p.G539C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.G150C|KCNT2_ENST00000367431.4_Missense_Mutation_p.G489C|KCNT2_ENST00000294725.8_Missense_Mutation_p.G539C			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	539	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATCGAGGACCTGGATTCAGC	0.318000													18	78					2.4624e-09	2.75109e-09	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803422	142803422	+	RNA	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:142803422C>T	ENST00000423385.1	-	0	1543																											cctgcctcatcctctcaagta	0.353000													4	35					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20119158	20119158	+	Silent	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:20119158A>T	ENST00000396085.1	+	32	6418	c.6057A>T	c.(6055-6057)ctA>ctT	p.L2019L	NAV2_ENST00000540292.1_Silent_p.L2006L|NAV2_ENST00000349880.4_Silent_p.L2016L|NAV2_ENST00000360655.4_Silent_p.L1952L|NAV2_ENST00000527559.2_Silent_p.L2004L|NAV2_ENST00000533917.1_Silent_p.L1080L|NAV2_ENST00000311043.8_Silent_p.L1080L|NAV2_ENST00000396087.3_Silent_p.L2075L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2075						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGAGTCAGCTAGGGCTGAATT	0.453000													19	83					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517969	85517969	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:85517969G>A	ENST00000393217.2	+	17	3740	c.3679G>A	c.(3679-3681)Gaa>Aaa	p.E1227K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1227										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAGAAAGATGAATCAGAAGC	0.418000													18	73					0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54662563	54662563	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:54662563A>G	ENST00000230640.5	+	16	1924	c.1670A>G	c.(1669-1671)gAt>gGt	p.D557G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D456G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	557	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGCTCCGCTGATCCTCTAAAT	0.333000													12	61					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539400	55539400	+	Silent	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:55539400A>G	ENST00000220676.1	+	4	3106	c.2958A>G	c.(2956-2958)ctA>ctG	p.L986L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	986					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGATAATCTATGTAAAGAGG	0.373000													65	194					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912004	155912004	+	Silent	SNP	G	G	A	rs151259651		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:155912004G>A	ENST00000368318.3	+	1	525	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	168						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGGCGGCGGCTGCCCTGG	0.672000													19	100					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:54783717C>T	ENST00000391748.1	-	4	411	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB2_ENST00000391749.4_Missense_Mutation_p.R95Q|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Missense_Mutation_p.R95Q|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000391746.1_Missense_Mutation_p.R95Q	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557000													15	166					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226144	39226144	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:39226144C>A	ENST00000340369.3	-	2	5021	c.4793G>T	c.(4792-4794)gGc>gTc	p.G1598V	XIRP1_ENST00000421646.1_Missense_Mutation_p.G281V|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1598							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)		CTGGCCTGAGCCACTGGGCCT	0.562000													43	199					1.57945e-13	1.82765e-13	1	1	0
PLCD4	84812	broad.mit.edu	37	2	219500994	219500994	+	Silent	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:219500994A>G	ENST00000450993.2	+	15	2400	c.2061A>G	c.(2059-2061)ctA>ctG	p.L687L	PLCD4_ENST00000432688.1_Silent_p.L719L|PLCD4_ENST00000417849.1_Silent_p.L687L	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	687	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCAGACACTATGTTTCCGGG	0.438000													40	202					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848674	117848674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:117848674G>A	ENST00000350763.4	-	3	1747	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TNC_ENST00000537320.1_Missense_Mutation_p.R446W|TNC_ENST00000346706.3_Missense_Mutation_p.R446W|TNC_ENST00000535648.1_Missense_Mutation_p.R446W|TNC_ENST00000542877.1_Missense_Mutation_p.R446W|TNC_ENST00000340094.3_Missense_Mutation_p.R446W|TNC_ENST00000345230.3_Missense_Mutation_p.R446W|TNC_ENST00000423613.2_Missense_Mutation_p.R446W|TNC_ENST00000341037.4_Missense_Mutation_p.R446W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	446	EGF-like 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGCGGCCCCGACTGTGACAG	0.587000													11	180					0	0	1	0	0
IMMP1L	196294	broad.mit.edu	37	11	31454100	31454100	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:31454100C>A	ENST00000278200.1	-	7	643	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	IMMP1L_ENST00000534812.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000532287.1_Missense_Mutation_p.D150Y|IMMP1L_ENST00000533642.1_Missense_Mutation_p.D41Y|IMMP1L_ENST00000526776.1_Missense_Mutation_p.D78Y	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	150					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					AATCCAAAATCACTCAGAGGC	0.338000													11	64					0.000978159	0.00101578	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606580	55606580	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:55606580C>T	ENST00000378396.1	+	1	353	c.353C>T	c.(352-354)gCg>gTg	p.A118V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A118V(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATTCTATTTGCGGTGATGGCC	0.423000													38	167					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154320941	154320941	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:154320941C>T	ENST00000368489.3	+	27	3320	c.3320C>T	c.(3319-3321)aCa>aTa	p.T1107I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1093					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGCTCACCACAGTCGTCTGC	0.607000													10	37					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923680	158923680	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr6:158923680G>A	ENST00000367097.3	+	13	4342	c.2985G>A	c.(2983-2985)acG>acA	p.T995T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	995					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGGCTACGCTCAAGATGG	0.706000													3	33					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	RNA	SNP	C	C	A	rs7615369	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437																											CTGAGCATCGCAGAGTCGTGC	0.552000													4	84					7.48243e-07	7.97469e-07	1	1	0
DACT1	51339	broad.mit.edu	37	14	59112831	59112831	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:59112831C>A	ENST00000395153.3	+	4	1526	c.1379C>A	c.(1378-1380)cCg>cAg	p.P460Q	DACT1_ENST00000395151.3_Missense_Mutation_p.P216Q|DACT1_ENST00000541264.2_Missense_Mutation_p.P216Q|DACT1_ENST00000556859.1_Missense_Mutation_p.P216Q|DACT1_ENST00000335867.4_Missense_Mutation_p.P497Q	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	497					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCTGCCCCGCCGCAGGAGAAC	0.602000													59	166					9.53615e-21	1.14434e-20	1	1	0
FAM65C	140876	broad.mit.edu	37	20	49209009	49209009	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr20:49209009G>T	ENST00000327979.2	-	19	2848	c.2437C>A	c.(2437-2439)Cag>Aag	p.Q813K	FAM65C_ENST00000535356.1_Missense_Mutation_p.Q817K|FAM65C_ENST00000045083.2_Missense_Mutation_p.Q813K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	813										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTGGAGCTGGCCCAGCCGC	0.672000													9	35					0.000673444	0.000703858	1	1	0
ZNF732	654254	broad.mit.edu	37	4	265307	265307	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:265307T>C	ENST00000419098.1	-	4	1349	c.1339A>G	c.(1339-1341)Aaa>Gaa	p.K447E		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTTCACATTTGTAAGGTTTC	0.418000													5	37					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502000													21	73					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503990	71503990	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr9:71503990A>G	ENST00000265382.3	+	7	717	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.K138E	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	138	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATTTATCATCAAAACAGTTCA	0.393000													39	78					0	0	1	0	0
SNHG24	101929369	broad.mit.edu	37	14	101449296	101449296	+	RNA	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:101449296C>T	ENST00000554693.2	+	0	717				SNORD114-22_ENST00000365423.1_RNA																							GCGTATGAGTCATATGTGATG	0.358000													47	125					0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56127965	56127965	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr7:56127965G>A	ENST00000275603.4	+	10	1288	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CCT6A_ENST00000335503.3_Missense_Mutation_p.E312K|CCT6A_ENST00000540286.1_Missense_Mutation_p.E326K	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	357					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACATAGGGAGAAGAGAAGTT	0.358000													7	54					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381411	49381411	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:49381411A>T	ENST00000406846.2	-	1	265	c.146T>A	c.(145-147)aTt>aAt	p.I49N	FSHR_ENST00000346173.3_Missense_Mutation_p.I49N|FSHR_ENST00000304421.4_Missense_Mutation_p.I49N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	49					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCACAGTTCAATGGCATTCCT	0.453000									Gonadal Dysgenesis, 46 XX				7	39					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29138288	29138288	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr22:29138288C>T	ENST00000216027.3	+	1	270	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	HSCB_ENST00000398941.2_Missense_Mutation_p.P69S|CHEK2_ENST00000544772.1_5'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	69					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GGCACCTGACCCCACTCGAGA	0.652000													7	51					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42357125	42357125	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr14:42357125C>A	ENST00000554171.1	+	5	3729	c.1297C>A	c.(1297-1299)Ctt>Att	p.L433I	LRFN5_ENST00000298119.4_Missense_Mutation_p.L433I|LRFN5_ENST00000554120.1_Missense_Mutation_p.L433I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	433	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACGGCACTACTTAAATTTAA	0.338000										HNSCC(30;0.082)			17	36					3.41278e-10	3.83938e-10	1	1	0
GYS2	2998	broad.mit.edu	37	12	21727085	21727085	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:21727085A>C	ENST00000261195.2	-	4	925	c.671T>G	c.(670-672)cTt>cGt	p.L224R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	224					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTTATCAAGATGGTTGTA	0.408000													22	50					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24091373	24091373	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:24091373C>T	ENST00000253039.4	+	11	1601	c.1348C>T	c.(1348-1350)Cac>Tac	p.H450Y	EIF2S3_ENST00000460032.1_3'UTR	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	450						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGTTGAAAAACACTGGCGGTA	0.398000													22	48					0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978218	45978218	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:45978218G>A	ENST00000391620.1	-	1	425	c.381C>T	c.(379-381)ccC>ccT	p.P127P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	127	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CAGAgcagacgggcacacagc	0.657000													5	457					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131303709	131303709	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:131303709G>A	ENST00000379264.2	-	16	1628	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379272.2_Missense_Mutation_p.A497V|ACSL6_ENST00000379244.1_Missense_Mutation_p.A482V|ACSL6_ENST00000357096.1_Missense_Mutation_p.A407V|ACSL6_ENST00000544770.1_Missense_Mutation_p.A391V|ACSL6_ENST00000379255.1_Missense_Mutation_p.A407V|ACSL6_ENST00000379249.3_Missense_Mutation_p.A482V|ACSL6_ENST00000379240.1_Missense_Mutation_p.A482V|ACSL6_ENST00000431707.1_Missense_Mutation_p.A462V|ACSL6_ENST00000543479.1_Missense_Mutation_p.A482V|ACSL6_ENST00000379246.1_Missense_Mutation_p.A493V|ACSL6_ENST00000296869.4_Missense_Mutation_p.A507V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	482					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGAAGTGGCGCCCCTACGTG	0.478000													4	116					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54448820	54448820	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:54448820T>A	ENST00000430889.2	+	2	672	c.626T>A	c.(625-627)aTg>aAg	p.M209K	HOXC4_ENST00000303406.4_Missense_Mutation_p.M209K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	209						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AACCGTCGCATGAAATGGAAG	0.592000													5	41					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440375	124440375	+	Silent	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:124440375C>T	ENST00000284287.3	+	1	483	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGATGGCCTACGACCGCTATG	0.493000													13	89					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664829	5664829	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:5664829G>A	ENST00000354852.5	+	14	2592	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.G453S|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Missense_Mutation_p.G453S|TRIM34_ENST00000429814.2_Missense_Mutation_p.G453S|HBG2_ENST00000380259.2_Intron	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		807						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CACAAGCCATGGCTCCCTCAT	0.473000													28	183					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60679703	60679703	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr2:60679703A>C	ENST00000538214.1	-	4	2513	c.2379T>G	c.(2377-2379)atT>atG	p.I793M	BCL11A_ENST00000537768.1_3'UTR|BCL11A_ENST00000356842.4_3'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.I243M			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGGCTTCAAATTTTCTCAG	0.547000			T	IGH@	B-CLL								14	133					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40398375	40398375	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:40398375G>A	ENST00000221347.6	-	14	6599	c.6592C>T	c.(6592-6594)Cgc>Tgc	p.R2198C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2198	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCGGCACGCGCAGGCGCACG	0.697000													4	74					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19153677	19153677	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr19:19153677G>A	ENST00000535612.1	+	3	619	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	ARMC6_ENST00000546344.1_Intron|ARMC6_ENST00000269932.6_Missense_Mutation_p.E38K|ARMC6_ENST00000392335.2_Missense_Mutation_p.E38K|ARMC6_ENST00000392336.3_Missense_Mutation_p.E63K	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	63							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGAGCAGTTTGAATCGCAAGG	0.602000													10	102					0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53246350	53246350	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:53246350C>G	ENST00000452825.3	-	3	963	c.431G>C	c.(430-432)cGg>cCg	p.R144P	KDM5C_ENST00000404049.3_Missense_Mutation_p.R210P|KDM5C_ENST00000375379.3_Missense_Mutation_p.R211P|KDM5C_ENST00000375401.3_Missense_Mutation_p.R211P|KDM5C_ENST00000375383.3_Missense_Mutation_p.R170P	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	211	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTTGGCCCGCCGGCCATAGCT	0.532000			"""N, F, S"""		clear cell renal carcinoma								9	8					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998674	120998674	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr3:120998674G>A	ENST00000273666.6	+	19	2252	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R	STXBP5L_ENST00000492541.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.G661R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G661R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	661					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAACTGCAATGGGTTGGCTGT	0.373000													34	105					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71427676	71427676	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:71427676C>T	ENST00000392650.3	-	11	1445	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	SDK2_ENST00000388726.3_Missense_Mutation_p.G482E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	482	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCATCGACCCCCCGAGAGTT	0.602000													35	263					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531811	92531811	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:92531811G>C	ENST00000298047.6	+	9	5649	c.5632G>C	c.(5632-5634)Gat>Cat	p.D1878H	FAT3_ENST00000525166.1_Missense_Mutation_p.D1728H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1878H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1878	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGATGTGAATGATAACCCACC	0.458000										TCGA Ovarian(4;0.039)			4	43					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111661446	111661446	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:111661446G>A	ENST00000286692.4	-	8	1291	c.674C>T	c.(673-675)aCt>aTt	p.T225I	DRAM2_ENST00000539140.1_Missense_Mutation_p.T225I|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	225					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						ACGAATGTAAGTCAGGAAAAA	0.373000													6	18					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548857	28548857	+	Silent	SNP	G	G	A	rs145558656		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATATTTGCCCGGACTCCACTT	0.537000													4	203					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038885	41038885	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:41038885G>C	ENST00000399564.4	-	21	2617	c.2167C>G	c.(2167-2169)Caa>Gaa	p.Q723E	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q278E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATGATATCTTGATTAAGTCTG	0.483000													12	46					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42179463	42179463	+	Splice_Site	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:42179463G>T	ENST00000520810.1	+	17	1924	c.1738_splice	c.e17+1	p.D580_splice	IKBKB_ENST00000379708.3_Splice_Site_p.D357_splice|IKBKB_ENST00000416505.2_Splice_Site_p.D521_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.D578_splice	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	580					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AAAACCTCGAGGTAAGTGGGG	0.463000													14	55					3.27435e-08	3.58409e-08	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	140743397	140743397	+	Silent	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr8:140743397G>T	ENST00000389328.4	-	23	3662	c.3648C>A	c.(3646-3648)atC>atA	p.I1216I	TRAPPC9_ENST00000438773.2_Silent_p.I1118I|TRAPPC9_ENST00000389327.3_Silent_p.I1109I|TRAPPC9_ENST00000522504.1_5'UTR	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1118					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CGTGGAACCGGATGTGGAGGA	0.657000													15	73					6.72482e-11	7.61833e-11	1	1	0
CTU2	348180	broad.mit.edu	37	16	88780174	88780174	+	Silent	SNP	C	C	T	rs140136452		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:88780174C>T	ENST00000567949.1	+	9	1215	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	CTU2_ENST00000378384.3_Silent_p.A244A|CTU2_ENST00000453996.2_Silent_p.A331A|CTU2_ENST00000312060.5_Silent_p.A331A			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	331					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCACACCAGCCGTCGACACCA	0.637000													6	227					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1795	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428000										HNSCC(5;0.00058)			13	46					0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13733566	13733566	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:13733566C>T	ENST00000354817.3	+	7	1004	c.860C>T	c.(859-861)gCg>gTg	p.A287V	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	287					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						ATGAGTCTTGCGGCAGCCTGG	0.408000													4	77					0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031223	58031223	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:58031223C>T	ENST00000299237.2	-	2	1569	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CTCGCCGCAGCGGAAGGGCCG	0.672000													5	33					0	0	1	0	0
SH3BP2	6452	broad.mit.edu	37	4	2831401	2831401	+	Silent	SNP	G	G	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr4:2831401G>A	ENST00000442312.2	+	8	1031	c.852G>A	c.(850-852)agG>agA	p.R284R	SH3BP2_ENST00000511747.1_Silent_p.R256R|SH3BP2_ENST00000435136.2_Silent_p.R256R|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Silent_p.R313R|SH3BP2_ENST00000356331.5_Silent_p.R256R|SH3BP2_ENST00000452765.2_Silent_p.R256R	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	256					signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACTCCAAGAGGGACCCACTGT	0.687000									Cherubism				16	70					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8736373	8736373	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:8736373G>T	ENST00000381920.3	+	9	1219	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.A265S	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	321							methyltransferase activity			large_intestine(5)|lung(4)	9						CTCCCGACTCGCCCACAGATT	0.517000													52	321					1.10885e-35	1.36086e-35	1	1	0
C1orf86	199990	broad.mit.edu	37	1	2125497	2125497	+	Silent	SNP	C	C	A			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:2125497C>A	ENST00000378545.3	-	3	446	c.447G>T	c.(445-447)acG>acT	p.T149T	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378546.4_Silent_p.T46T			Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	46										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCGGGCTCACCGTGCGCAGTA	0.667000													14	98					3.27435e-08	3.58409e-08	1	1	0
ZNF683	257101	broad.mit.edu	37	1	26688211	26688211	+	Frame_Shift_Del	DEL	C	C	-	rs142594969		TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr1:26688211delC	ENST00000436292.1	-	7	1626	c.1506delG	c.(1504-1506)ggfs	p.G502fs	ZNF683_ENST00000374204.1_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000349618.3_Frame_Shift_Del_p.G482fs|ZNF683_ENST00000403843.1_Frame_Shift_Del_p.G502fs			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CTCTTGCTTTCCCCTGGGATG	0.527													79	171	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs34838882	by1000genomes	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(157-162)gcccgc>gcGCCccgc	p.53_54AR>APR	KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	53	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													8	9	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													11	27	---	---	---	---					
LPCAT3	10162	broad.mit.edu	37	12	7086862	7086863	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr12:7086862_7086863insG	ENST00000261407.4	-	10	1170_1171	c.1085_1086insC	c.(1084-1086)tcafs	p.S362fs	LPCAT3_ENST00000535021.1_Intron|U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	362					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGAGACCCTGAGAGAGTTCTTT	0.520													27	230	---	---	---	---					
GOLGA8DP	100132979	broad.mit.edu	37	15	22710180	22710180	+	RNA	DEL	C	C	-			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr15:22710180delC	ENST00000314246.8	-	0	906																											GCTCTAACTTCCACTCCATAC	0.562													5	4	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													7	440	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579546	7579547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr17:7579546_7579547insG	ENST00000420246.2	-	4	272_273	c.140_141insC	c.(139-141)cgafs	p.R47fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.R47fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.R47fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.R47fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	47	Interaction with HRMT1L2.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in dbSNP:rs1800371).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P47fs*76(5)|p.P47P(2)|p.P47fs*4(2)|p.P47L(2)|p.D48fs*55(1)|p.P13fs*18(1)|p.S46_D49delSPDD(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAATATCGTCCGGGGACAGCAT	0.594		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			66	450	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33043981	33043982	+	Frame_Shift_Del	DEL	TG	TG	-	rs73903115	byFrequency	TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chr21:33043981_33043982delTG	ENST00000286835.7	-	20	3556_3557	c.3174_3175delCA	c.(3172-3177)gagafs	p.DR1058fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.DR1043fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.DR1036fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1058						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCTCTCTCTCTGTCTCGATGCC	0.520													9	205	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BA-A6DI-01A-11D-A30E-08	TCGA-BA-A6DI-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090dc3e7-1e6d-4073-b986-59f31c6bf7e5	0c914d5b-76f6-4087-8289-d7b2d72fecb0	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													8	111	---	---	---	---