Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SERPINB3	6317	broad.mit.edu	37	18	61326740	61326740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61326740G>A	uc002lji.3	-	3	388	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	SERPINB3_uc002ljg.3_Missense_Mutation_p.H82Y|SERPINB3_uc010dqa.3_Missense_Mutation_p.H82Y|SERPINB3_uc010dqb.3_Missense_Mutation_p.H82Y	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	82					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AACTGGTGATGAACATTTCCT	0.368000														77			40		0	0	1	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322689	22322689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:22322689G>A	uc001wcc.3	+	3	578	c.379G>A	c.(379-381)Gga>Aga	p.G127R	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 414.																		TTGCCCACAGGGACTGTGATG	0.383000														20			39		0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809542	5809542	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5809542G>A	uc010qzo.2	-	0	505	c.505C>T	c.(505-507)Cca>Tca	p.P169S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TTGCAGTATGGAAGGCGCTTG	0.478000														31			13		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318071	30318071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:30318071C>T	uc009xle.2	-	2	1143	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	KIAA1462_uc001iux.3_Missense_Mutation_p.E336K|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.E198K	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	336	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGGAGGTTCCAATCCAGGG	0.597000														119			76		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729253	51729253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51729253G>A	uc002pwa.2	+	2	653	c.613G>A	c.(613-615)Gac>Aac	p.D205N	CD33_uc010eos.1_Missense_Mutation_p.D205N|CD33_uc010eot.1_Missense_Mutation_p.D78N|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	205	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.Q204*(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ACGGCCCCAGGACCACGGCAC	0.617000														39			26		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156957821	156957821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156957821C>T	uc003lwz.3	-	4	480	c.401G>A	c.(400-402)gGa>gAa	p.G134E	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.G65E	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	134					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.R134Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTACCTAATTCCTCGGCAAGT	0.562000														31			31		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31898701	31898701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:31898701C>T	uc021okm.1	+	5	851	c.578C>T	c.(577-579)tCc>tTc	p.S193F	SERINC2_uc010ogg.2_Missense_Mutation_p.S188F|SERINC2_uc009vtw.1_Silent_p.L157L|SERINC2_uc001bst.3_Missense_Mutation_p.S184F|SERINC2_uc001bsu.3_Missense_Mutation_p.S129F|SERINC2_uc010ogh.2_Missense_Mutation_p.S188F	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	184						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TTTGCGCACTCCTGGAACCAG	0.637000														40			37		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53701346	53701346	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53701346G>T	uc001scr.4	-	15	1731	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	AAAS_uc001scs.4_Missense_Mutation_p.P490Q	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	523					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGCAGAGGTTGGGGATGTCTC	0.562000														41			23		9.86323e-18	9.99881e-18	1	1	0
GCLM	2730	broad.mit.edu	37	1	94354692	94354692	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94354692G>A	uc001dqg.1	-	6	972	c.679C>T	c.(679-681)Caa>Taa	p.Q227*		NM_002061	NP_002052	P48507	GSH0_HUMAN	Homo sapiens glutamate-cysteine ligase, modifier subunit (GCLM), mRNA.	227					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGAGCTTCTTGGAAACTTGCT	0.413000														16			8		0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178096113	178096114	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:178096113_178096114GG>AA	uc002ulh.4	-	4	1772_1773	c.1217_1218CC>TT	c.(1216-1218)ccc>cTT	p.P406L	NFE2L2_uc002ulg.4_Missense_Mutation_p.P390L|NFE2L2_uc010zfa.2_Missense_Mutation_p.P383L|NFE2L2_uc002uli.4_Missense_Mutation_p.P390L	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	406					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATGGTGACAAGGGTTGTACCAT	0.485000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				95			37		0	0	1	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447713	3447713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:3447713C>T	uc004fqk.3	+	1	492	c.428C>T	c.(427-429)cCg>cTg	p.P143L	TGIF2LY_uc022ciw.1_Missense_Mutation_p.P143L	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GCGTCTGTGCCGGCCAAGTCA	0.582000														16			11		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389080	20389080	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20389080C>T	uc010tkw.2	+	0	315	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTTTATTCACCTTTTTACTG	0.433000														219			12		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3656664	3656664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3656664C>T	uc002fwo.4	-	13	1687	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	530					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCAAGAAGTCCGTGCTTCCA	0.562000														16			19		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64593101	64593101	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64593101C>T	uc001xgl.3	+	71	13841	c.13611C>T	c.(13609-13611)ttC>ttT	p.F4537F	SYNE2_uc001xgm.3_Silent_p.F4537F|SYNE2_uc021ruh.1_Silent_p.F4488F|SYNE2_uc010apy.3_Silent_p.F922F|SYNE2_uc010apz.1_Silent_p.F429F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4537					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGAACTATTCCTGACCCTCA	0.418000														18			19		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39802258	39802258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:39802258C>T	uc021olw.1	+	0	5318	c.5318C>T	c.(5317-5319)cCc>cTc	p.P1773L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3338					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.P1773L(2)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACAAACTCCCTTCATGACT	0.463000														57			31		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262838	45262838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:45262838C>T	uc003jok.3	-	7	1883	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	620						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGAGGATTTCGTTCTCCTGA	0.418000														51			6		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181549757	181549757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:181549757C>T	uc009wxt.3	+	5	991	c.796C>T	c.(796-798)Cac>Tac	p.H266Y	CACNA1E_uc001gow.3_Missense_Mutation_p.H266Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.H266Y|CACNA1E_uc009wxr.3_Missense_Mutation_p.H173Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	266					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGACCCCCCTCACCCATGTGG	0.507000														193			158		0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960822	216960822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:216960822G>A	uc010zjr.2	+	2	462	c.136G>A	c.(136-138)Gag>Aag	p.E46K	TMEM169_uc010zjs.2_Missense_Mutation_p.E46K|TMEM169_uc002vfw.3_Missense_Mutation_p.E46K|TMEM169_uc002vfv.4_Missense_Mutation_p.E46K	NM_001142310	NP_612399	Q96HH4	TM169_HUMAN	Homo sapiens transmembrane protein 169 (TMEM169), transcript variant 1, mRNA.	46						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGGAAAGAGTCACGCCC	0.552000														16			13		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55540930	55540930	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55540930G>A	uc010ril.2	+	0	17	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6I(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCATCTGAAAGAAATCAAAGC	0.378000														69			27		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108306214	108306214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:108306214G>A	uc003ymn.3	-	5	1456	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	ANGPT1_uc011lhv.2_Missense_Mutation_p.R130C|ANGPT1_uc003ymo.3_Missense_Mutation_p.R329C|ANGPT1_uc003ymp.4_Missense_Mutation_p.R129C	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	330	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCATCTTCACGATGTTGTATT	0.338000														100			80		0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487415	248487415	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248487415G>A	uc010pzk.2	-	0	456	c.456C>T	c.(454-456)ggC>ggT	p.G152G		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTGTAGAGCCCAGGATCC	0.478000														184			79		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13732391	13732391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:13732391G>A	uc001mld.3	+	4	852	c.697G>A	c.(697-699)Ggt>Agt	p.G233S	FAR1_uc009ygp.3_Missense_Mutation_p.G233S	NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	233					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						ATCGATTGTTGGTGCCAGTTG	0.353000														32			22		0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30226702	30226702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:30226702C>T	uc002hgr.3	-	1	223	c.140G>A	c.(139-141)aGa>aAa	p.R47K	UTP6_uc010wbw.1_Missense_Mutation_p.R47K	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	47					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GAAAAGGGTTCTTCTCTGGAT	0.318000														31			12		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623479	143623479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143623479C>T	uc003ywm.3	+	26	4067	c.3884C>T	c.(3883-3885)cCc>cTc	p.P1295L		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1295					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCCCGCTATCCCGGCGGGCCC	0.642000														46			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175450	140175450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140175450G>A	uc003lhd.2	+	0	1007	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E301K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E301K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	316	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCAGGGGAAATCAGAAC	0.433000														50			12		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246215	45246215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45246215C>T	uc001myo.3	+	7	1541	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	431										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GCCGAGGCCTCCCTTGCATCT	0.547000														182			64		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49028019	49028019	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49028019C>T	uc003cvh.3	+	0	679	c.330C>T	c.(328-330)ccC>ccT	p.P110P	P4HTM_uc003cvg.3_Silent_p.P110P	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	110						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CCTTAGGTCCCCTCACCCGGC	0.726000														10			8		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283085	5283085	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5283085G>A	uc010zqw.2	-	1	764	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PROKR2_uc010zqx.2_Silent_p.F252F|PROKR2_uc010zqy.2_Silent_p.F252F	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	252						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGACTGCCTTGAACCAGAGCT	0.587000										HNSCC(71;0.22)				54			27		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269129	34269129	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:34269129A>G	uc001wru.3	+	11	1680	c.1616A>G	c.(1615-1617)aAc>aGc	p.N539S	NPAS3_uc001wrs.3_Missense_Mutation_p.N526S|NPAS3_uc001wrv.3_Missense_Mutation_p.N509S|NPAS3_uc001wrt.3_Missense_Mutation_p.N507S	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GACTTTGAGAACCCCAAGGCG	0.637000														26			10		0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012512	29012512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29012512C>T	uc003nlw.2	-	0	441	c.441G>A	c.(439-441)atG>atA	p.M147I	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TACTCCAGATCATGATAATCA	0.373000														52			37		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546170	11546170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11546170C>T	uc010shk.1	-	2	877	c.842G>A	c.(841-843)gGa>gAa	p.G281E		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGTGG	0.612000														240			138		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768314	117768314	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117768314G>A	uc001twn.2	-	1	1272	c.561C>T	c.(559-561)ccC>ccT	p.P187P	NOS1_uc001twm.2_Silent_p.P187P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	187	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTTCTTCGCGGGGTCCTGGC	0.632000														123			65		0	0	1	0	0
CACNB4	785	broad.mit.edu	37	2	152698471	152698471	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152698471C>T	uc002tya.3	-	12	1316	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	CACNB4_uc002txy.3_Silent_p.R382R|CACNB4_uc002txz.3_Silent_p.R398R|CACNB4_uc010fnz.3_Intron	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	416					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	AGCCCAAATTCCTTCCCAGCA	0.502000														122			71		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498921	61498921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:61498921C>T	uc002jal.4	+	24	5601	c.5578C>T	c.(5578-5580)Cac>Tac	p.H1860Y	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.H971Y	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1860							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGTACCCCCACCTCCACCA	0.582000														177			53		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43226872	43226872	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43226872C>T	uc003ouq.1	+	10	1392	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	371						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGAATGCACCCCCAATTCTGC	0.657000														94			28		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532894	42532894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:42532894C>T	uc010dni.3	+	3	3885	c.3589C>T	c.(3589-3591)Ctc>Ttc	p.L1197F		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1197						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGACAAAGAGCTCCCGCTGGT	0.542000									Schinzel-Giedion syndrome					65			23		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474567	140474567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140474567G>A	uc003lil.3	+	0	331	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	65	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGTGAGGGGGGCCAGGGT	0.507000														57			10		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131195982	131195982	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131195982T>C	uc003vqw.4	-	1	569	c.311A>G	c.(310-312)aAc>aGc	p.N104S	PODXL_uc003vqx.4_Missense_Mutation_p.N104S	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	104	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACGGTAGTGTTGACTGGGCC	0.577000														198			66		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160551162	160551162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160551162G>A	uc003qtc.3	+	1	543	c.438G>A	c.(436-438)tgG>tgA	p.W146*	SLC22A1_uc003qtd.3_Nonsense_Mutation_p.W146*	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	146						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CTGACTCCTGGAAGCTGGACC	0.517000														112			41		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259982	35259982	+	Silent	SNP	G	A	A	rs149329150		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:35259982G>A	uc009vul.3	+	1	420	c.396G>A	c.(394-396)acG>acA	p.T132T	GJA4_uc001bya.3_Silent_p.T56T|GJA4_uc009vum.1_Silent_p.T56T|GJA4_uc021olb.1_Silent_p.T56T	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	56					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGTGTAACACGGCCCAGCCAG	0.602000														128			41		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9000193	9000193	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9000193G>C	uc001quz.4	+	14	1830	c.1732G>C	c.(1732-1734)Gag>Cag	p.E578Q	A2ML1_uc001qva.1_Missense_Mutation_p.E158Q|A2ML1_uc010sgm.2_Missense_Mutation_p.E78Q	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	422						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGCAGAAGTGGAGCTGCAGCT	0.602000														145			74		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43508545	43508545	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:43508545C>T	uc003tid.1	+	15	3545	c.2940C>T	c.(2938-2940)agC>agT	p.S980S	HECW1_uc011kbi.1_Silent_p.S946S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	980					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCACCAGTAGCACCTGCTTAA	0.502000														47			17		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760939	130760939	+	Silent	SNP	G	A	A	rs116452429	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:130760939G>A	uc003ysr.3	-	13	2217	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	445						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TGAGGGTGAAGGGAATGCTCC	0.527000														37			33		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582442	55582442	+	Missense_Mutation	SNP	C	T	T	rs145499180	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55582442C>T	uc010qhy.1	-	34	5460	c.5065G>A	c.(5065-5067)Gaa>Aaa	p.E1689K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1684K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1659K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1679K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1642K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1613K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1684K|PCDH15_uc010qia.1_Missense_Mutation_p.E1662K|PCDH15_uc001jju.1_Missense_Mutation_p.E1682K|PCDH15_uc010qib.1_Missense_Mutation_p.E1659K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1682					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTTGAGTTCCACAGTTCTT	0.428000										HNSCC(58;0.16)				66			24		0	0	1	0	0
CLIC3	9022	broad.mit.edu	37	9	139889928	139889928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139889928C>T	uc004ckj.1	-	2	264	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_004669	NP_004660	O95833	CLIC3_HUMAN	Homo sapiens chloride intracellular channel 3 (CLIC3), mRNA.	79	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAAAGTCCTCGATCTGCAGC	0.682000														55			81		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279819	114279819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:114279819C>T	uc003ibe.4	+	37	10145	c.10045C>T	c.(10045-10047)Cct>Tct	p.P3349S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3364S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3316					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P3349L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCAAACTCCCTGTCAAAGT	0.468000														72			14		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25275471	25275471	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:25275471C>T	uc003abg.2	+	14	1795	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	SGSM1_uc010guu.1_Silent_p.I491I|SGSM1_uc003abh.2_Silent_p.I546I|SGSM1_uc003abj.2_Silent_p.I491I|SGSM1_uc003abi.1_Silent_p.I466I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	546						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGTACCAGATCCTCTCCAGAG	0.488000														20			6		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102198822	102198822	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102198822C>T	uc001pgx.3	+	3	3788	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	331					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGGAGTTCATCCGTCAAGTTC	0.318000			T	MALT1	MALT									40			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469494	179469494	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179469494T>C	uc021vsy.1	-	229	46843	c.46618A>G	c.(46618-46620)Agt>Ggt	p.S15540G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S9235G|TTN_uc021vta.1_Missense_Mutation_p.S9168G|TTN_uc021vtb.1_Missense_Mutation_p.S9043G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16467	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P15539H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCCTACTTGCATCACGT	0.388000														73			20		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170011003	170011003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170011003C>T	uc002ues.3	-	65	12475	c.12262G>A	c.(12262-12264)Gat>Aat	p.D4088N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4088					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATCATAATCAACAGCTTGG	0.363000														53			36		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57292291	57292291	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:57292291C>T	uc002ixi.3	+	3	2946	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	968					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GACCTTGTTTCCCCCCTAAGG	0.443000														82			66		0	0	1	0	0
SMCR7L	54471	broad.mit.edu	37	22	39908021	39908021	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39908021C>T	uc003axw.3	+	3	809	c.312C>T	c.(310-312)acC>acT	p.T104T	SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axx.3_Silent_p.T104T|SMCR7L_uc003axy.3_5'UTR	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	104						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					ACTCCTCCACCTTCGACACAG	0.597000														97			53		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438970	179438970	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179438970C>T	uc021vsy.1	-	274	64410	c.64185G>A	c.(64183-64185)aaG>aaA	p.K21395K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K15090K|TTN_uc021vta.1_Silent_p.K15023K|TTN_uc021vtb.1_Silent_p.K14898K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22322	Ig-like 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGGTCTCTCTTTTCAACGA	0.398000														16			8		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815270	137815270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137815270G>A	uc003qhp.1	-	0	262	c.38C>T	c.(37-39)tCa>tTa	p.S13L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCGGAGATGAAGCTCTGCT	0.547000														71			45		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783755	169783755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:169783755C>T	uc002ueo.1	-	25	3655	c.3529G>A	c.(3529-3531)Gga>Aga	p.G1177R	ABCB11_uc010zda.1_Missense_Mutation_p.G595R|ABCB11_uc010zdb.1_Missense_Mutation_p.G653R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1177	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTGTTGTCTCCATACTTGATA	0.433000														101			41		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321203	52321203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:52321203C>T	uc003xqu.4	-	16	3082	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	994					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACCGTGTTTCCCTCCCAGTG	0.637000														8			3		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599107	31599107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31599107C>T	uc003nvb.4	+	15	2906	c.2657C>T	c.(2656-2658)cCt>cTt	p.P886L	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P886L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	886	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGGAGCCCCCTAAGGAGGAG	0.662000														35			22		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949968	38949968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38949968G>A	uc002oit.3	+	18	2480	c.2350G>A	c.(2350-2352)Gct>Act	p.A784T	RYR1_uc002oiu.3_Missense_Mutation_p.A784T	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	784	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCTTCTCGGCTGGTGTCAA	0.612000														33			14		0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49448111	49448111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49448111C>T	uc002ple.1	+	6	966	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	309					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		ATTCCCCTGTCGGAAAGTGAG	0.522000														85			55		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515726	47515726	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47515726G>A	uc001cqt.3	+	11	1660	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L	CYP4X1_uc001cqr.3_Silent_p.L469L|CYP4X1_uc001cqs.3_Silent_p.L405L	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	470						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.L470L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CCATTGCCTTGATTCTGCTCC	0.443000														111			41		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671209	127671209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:127671209C>T	uc003kuu.3	-	28	4224	c.3785G>A	c.(3784-3786)gGa>gAa	p.G1262E	FBN2_uc003kuv.2_Missense_Mutation_p.G1229E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1262	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCGTAGCTTCCCTCTGAATT	0.453000														91			91		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225237	49225237	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49225237C>T	uc010zyt.2	-	9	974	c.723G>A	c.(721-723)aaG>aaA	p.K241K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.K237K|FAM65C_uc002xvn.1_Silent_p.K237K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	237										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						CGATCCGACCCTTGAGCTTCC	0.642000														149			70		0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15903505	15903505	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:15903505G>C	uc002gph.2	+	1	727	c.621G>C	c.(619-621)gaG>gaC	p.E207D	ZSWIM7_uc002gpe.3_5'Flank|ZSWIM7_uc002gpf.3_5'Flank|ZSWIM7_uc002gpg.3_5'Flank|TTC19_uc021tqp.1_Non-coding_Transcript	NM_017775	NP_060245	Q6DKK2	TTC19_HUMAN	Homo sapiens tetratricopeptide repeat domain 19 (TTC19), transcript variant 1, mRNA.	86					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGCTGCCGAGGACGGGGCGG	0.726000														7			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179516193	179516193	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179516193G>A	uc021vsy.1	-	160	32457	c.32232C>T	c.(32230-32232)gcC>gcT	p.A10744A	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11671	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCAGGTGGGGCTTCTGGCT	0.473000														35			18		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76472686	76472686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76472686C>T	uc003yaq.3	+	9	1360	c.1090C>T	c.(1090-1092)Cat>Tat	p.H364Y	HNF4G_uc003yar.3_Missense_Mutation_p.H401Y	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	364					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AACACTGGTTCATGCAGACCA	0.373000														50			16		0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76183458	76183458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76183458G>A	uc002juz.3	+	0	61	c.7G>A	c.(7-9)Gat>Aat	p.D3N	TK1_uc002juw.2_5'Flank|AFMID_uc002juy.3_Non-coding_Transcript|AFMID_uc010dhj.3_Missense_Mutation_p.D3N|AFMID_uc002jva.3_Missense_Mutation_p.D3N|AFMID_uc002jvb.3_Missense_Mutation_p.D3N	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	3						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CGCCATGATGGATGTGTCTGG	0.597000														118			42		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64521949	64521949	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:64521949C>T	uc003jtp.3	-	15	2845	c.2031G>A	c.(2029-2031)gcG>gcA	p.A677A	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.A298A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	677					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCAGTGAATCCGCATTGCACT	0.433000														81			10		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111436584	111436584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:111436584C>T	uc003iab.4	+	7	1837	c.1495C>T	c.(1495-1497)Caa>Taa	p.Q499*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	499					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGAGAATTTTCAAAAAGGATG	0.308000														33			19		0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119673858	119673858	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:119673858A>C	uc003ici.4	-	11	1879	c.1607T>G	c.(1606-1608)aTt>aGt	p.I536S	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.I537S|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	536					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTACTTATGAATCACAGATTG	0.343000														21			7		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18739511	18739511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18739511C>T	uc009yht.2	-	8	1130	c.940G>A	c.(940-942)Gat>Aat	p.D314N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	314	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCCGCTTATCGCCCACGGAC	0.552000														103			43		0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103228746	103228746	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:103228746G>A	uc003hwb.1	-	2	928	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SLC39A8_uc011ceo.1_Silent_p.F133F|SLC39A8_uc003hwa.1_Silent_p.F66F|SLC39A8_uc003hwc.2_Silent_p.F133F	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	133						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TCACTGACAGGAATCCATATC	0.378000														68			33		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344943	56344943	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56344943G>A	uc001niz.1	-	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTTCTGAGAGGAAATTGTGCA	0.433000														34			17		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111571730	111571730	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111571730T>C	uc001plt.3	+	4	717	c.599T>C	c.(598-600)aTc>aCc	p.I200T		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	200	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CAGCTGGACATCTGGGTACTG	0.468000														32			17		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511009	4511009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4511009G>A	uc002mar.1	-	2	2921	c.2921C>T	c.(2920-2922)gCt>gTt	p.A974V	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	974	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATAAGCACAGCCTTGGAGGC	0.612000														28			27		0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045032	55045032	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55045032C>T	uc010yfa.1	+	2		c.258C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TCCTGTCATTCCCATCTTCGG	0.542000														41			21		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57143616	57143616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57143616G>A	uc003dil.3	-	4	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	IL17RD_uc003dik.3_Missense_Mutation_p.P143S|IL17RD_uc010hna.3_Missense_Mutation_p.P23S|IL17RD_uc011bex.1_Missense_Mutation_p.P23S	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	167						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TTAATGGAAGGAAAAGGGACA	0.408000														55			35		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45868996	45868996	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45868996C>T	uc010rgn.2	+	0	40	c.18C>T	c.(16-18)gtC>gtT	p.V6V	CRY2_uc009ykw.3_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GGGTCCACGTCGCCTACCGGG	0.726000														16			8		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:11984744C>T	uc001ila.3	-	16	3772	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_uc001ilb.3_Missense_Mutation_p.G1100S|UPF2_uc001ilc.3_Missense_Mutation_p.G1100S	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333000														41			19		0	0	1	0	0
AK310665	0	broad.mit.edu	37	17	20332083	20332083	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:20332083C>T	uc010cqz.3	+	2		c.603C>T								Homo sapiens cDNA, FLJ17707.																		GCTGGTCACTCCTCAGGACCA	0.557000														16			30		0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1867245	1867246	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:1867245_1867246CC>TT	uc002cna.3	-	5	975_976	c.568_569GG>AA	c.(568-570)ggg>AAg	p.G190K	HAGH_uc002cmz.3_Missense_Mutation_p.G142K|HAGH_uc010uvp.2_Missense_Mutation_p.G154R	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	190					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.N190D(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATAGAACTTCCCGCAGCCAGCC	0.634000														21			27		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553107	140553107	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140553107C>T	uc003lit.3	+	0	865	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	231	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGCGCATTCTGGTTCTAGA	0.547000														38			34		0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72786608	72786608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:72786608G>A	uc010fep.3	-	7	1027	c.889C>T	c.(889-891)Cga>Tga	p.R297*	EXOC6B_uc002sij.2_Nonsense_Mutation_p.R297*	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	297					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGTAGACATCGATAAACTGGA	0.368000														22			9		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968870	5968870	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5968870C>T	uc010qzt.2	+	0	294	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGCTTCCCTGCCTGCT	0.532000														106			45		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122889339	122889339	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:122889339G>A	uc010rzt.2	+	0		c.1066G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GCATGAAGGGGAATGGGATTC	0.552000														32			10		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063804	73063804	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:73063804G>A	uc004ebm.1	-	0		c.8785C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCCTTGGAGGGAAACAGTATA	0.383000														3			7		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024279	6024279	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6024279T>C	uc010qzv.2	-	0	100	c.100A>G	c.(100-102)Act>Gct	p.T34A		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGAGAAGTACAGAAACAT	0.418000														38			22		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37209131	37209131	+	RNA	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37209131T>C	uc002hrd.1	+	4		c.3253T>C								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		AGAATGGAGGTTGCACTATTC	0.527000														25			9		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598123	49598123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:49598123G>A	uc010rhy.2	+	1	714	c.236G>A	c.(235-237)aGc>aAc	p.S79N	LOC440040_uc009ymb.3_Missense_Mutation_p.S79N					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		CTAGAGCAGAGCATTGAGTTC	0.527000														22			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140792983	140792983	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140792983C>T	uc003lkl.2	+	0	241	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.L81L	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	77	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTTCTCTCTGAACCCGCG	0.622000														77			62		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377413	151377413	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151377413A>G	uc001eyd.2	-	18	4413	c.4098T>C	c.(4096-4098)tcT>tcC	p.S1366S	POGZ_uc021oyq.1_Silent_p.S1313S|POGZ_uc010pdb.2_Silent_p.S1357S|POGZ_uc010pdc.2_Silent_p.S1304S|POGZ_uc009wmv.2_Silent_p.S1271S|POGZ_uc001eyf.2_Silent_p.S1322S|POGZ_uc010pdd.2_Silent_p.S857S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1366					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTGGAGTGGAAGACTCAGAAT	0.483000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		108			41		0	0	1	0	0
CEP290	80184	broad.mit.edu	37	12	88500490	88500490	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:88500490C>T	uc001tar.3	-	24	3123	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	CEP290_uc001taq.3_5'Flank|CEP290_uc001tat.3_Missense_Mutation_p.E720K	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	927					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCACAAACTTCAGCCTCCATT	0.308000														22			4		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34000545	34000545	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:34000545C>T	uc003and.4	-	6	1071	c.492_splice	c.e6-1	p.R164_splice	LARGE_uc003ane.4_Splice_Site_p.R164_splice|LARGE_uc010gwp.3_Splice_Site_p.R164_splice|LARGE_uc011ame.2_Splice_Site_p.R96_splice|LARGE_uc011amf.2_Splice_Site_p.R164_splice	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	164					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGGTTCCGTCTGTGGGGAGT	0.562000														72			34		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616729	248616729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248616729C>T	uc001iek.1	+	0	631	c.631C>T	c.(631-633)Cct>Tct	p.P211S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTTATCCCTCTATCTGT	0.532000														146			30		0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793777	217793777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:217793777C>T	uc001hlf.1	-	1	217	c.121G>A	c.(121-123)Gag>Aag	p.E41K	GPATCH2_uc001hlg.4_Missense_Mutation_p.E41K	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	41						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CGAGCTTGCTCTGAGCTCTCT	0.448000														69			24		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979602	46979602	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46979602T>C	uc003gxg.3	-	3	1302	c.319A>G	c.(319-321)Aga>Gga	p.R107G	GABRA4_uc021xnz.1_Missense_Mutation_p.R88G|GABRA4_uc021xoa.1_Missense_Mutation_p.R88G	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	107					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTTAATCTTTTGTCAATC	0.353000														71			26		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93029589	93029589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:93029589G>A	uc022axs.1	-	2	455	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R4C|RUNX1T1_uc010mam.3_Missense_Mutation_p.R4C|RUNX1T1_uc003yfe.2_5'UTR|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R31C|RUNX1T1_uc022axo.1_Missense_Mutation_p.R31C|RUNX1T1_uc010mao.3_Missense_Mutation_p.R4C|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R42C|RUNX1T1_uc022axp.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axq.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axr.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axt.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axu.1_Missense_Mutation_p.R11C|RUNX1T1_uc022axv.1_Missense_Mutation_p.R31C|RUNX1T1_uc022axw.1_Non-coding_Transcript|RUNX1T1_uc003yfb.2_5'UTR|RUNX1T1_uc003yff.1_5'UTR|RUNX1T1_uc003yfg.2_5'UTR	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	31					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCAGTACGATCTGGAGGA	0.448000														35			43		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827961	52827961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52827961C>T	uc001saj.2	-	0	150	c.128G>A	c.(127-129)gGg>gAg	p.G43E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	43	Gly-rich.|Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCCCCACTCCCTGCTGCAGA	0.672000														66			40		0	0	1	0	0
MYL12B	103910	broad.mit.edu	37	18	3277816	3277816	+	Missense_Mutation	SNP	T	C	C	rs144447000		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3277816T>C	uc002klt.4	+	3	540	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	MYL12B_uc010dkl.3_Missense_Mutation_p.F134L|MYL12B_uc010wyv.2_Missense_Mutation_p.F134L	NM_033546	NP_291024	O14950	ML12B_HUMAN	Homo sapiens myosin, light chain 12B, regulatory (MYL12B), transcript variant 2, mRNA.	134	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GGGGGATCGGTTTACAGATGA	0.448000														43			14		0	0	1	0	0
RBM15B	29890	broad.mit.edu	37	3	51430373	51430373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51430373G>A	uc003dbd.3	+	0	1675	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	515					RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTGCTCACAGATGGATACAC	0.612000														97			38		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848761	117848761	+	Missense_Mutation	SNP	G	C	C	rs150548325		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:117848761G>C	uc004bjj.4	-	2	1661	c.1249C>G	c.(1249-1251)Cgc>Ggc	p.R417G	TNC_uc010mvf.3_Missense_Mutation_p.R417G|TNC_uc022bmj.1_Missense_Mutation_p.R417G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	417	EGF-like 9.				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						TTGACACAGCGGCCATGGCCA	0.602000														32			41		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384494	21384494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:21384494G>A	uc002zud.3	-	2	1197	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	SLC7A4_uc002zue.3_Missense_Mutation_p.L377F	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	377					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AAGGCCGTGAGGAGCCCGAAC	0.627000														23			8		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370747	55370747	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55370747C>A	uc003xsb.4	+	0	253	c.49C>A	c.(49-51)Cag>Aag	p.Q17K		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	17			Q -> QTQ (in VUR3).		Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGCCAGACCCAGAGCGCGCT	0.746000														8			3		1	1	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64681879	64681879	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64681879G>A	uc001obx.3	-	1	380	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ATG2A_uc010rnt.1_Silent_p.L89L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	89							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCGGTGAGCAGAGCAGCCCAG	0.682000														15			11		0	0	1	0	0
S100A14	57402	broad.mit.edu	37	1	153587777	153587777	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:153587777C>T	uc001fce.3	-	2	227	c.111G>A	c.(109-111)ggG>ggA	p.G37G	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	37	EF-hand 1.				calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGTCTCCTTCCCACCCTCCA	0.592000														49			39		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522468	31522468	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31522468G>A	uc003aju.4	+	2	1470	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	INPP5J_uc010gwf.3_Missense_Mutation_p.A460T|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.A92T|INPP5J_uc003ajv.4_Missense_Mutation_p.A93T|INPP5J_uc003ajs.4_Missense_Mutation_p.A93T|INPP5J_uc011alk.2_Missense_Mutation_p.A393T|INPP5J_uc010gwg.3_Missense_Mutation_p.A25T	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	460	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGACATGATCGCCATAGGGTG	0.662000														144			51		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887761	3887761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:3887761G>A	uc003bpt.4	+	1	2197	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.S479N	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	479	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TACAAGCTAAGTAGCGAAGGT	0.448000														81			47		0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424095	89424095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:89424095G>A	uc001pda.3	+	10	1271	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	249					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CAGTGTCTATGAAACATATGA	0.368000														36			10		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079764	34079764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:34079764C>T	uc002hjv.2	-	0	134	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	36	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGTCTTCCTTCATGGCC	0.632000														65			39		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820040	55820040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820040G>A	uc010spm.2	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(2)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATCAGAAATGAAAAATAGAA	0.348000														47			33		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41003568	41003568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41003568G>A	uc002ibv.3	+	0	368	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	70					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGAGCTGACGGCTGTGATGCG	0.642000														144			87		0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71209716	71209717	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:71209716_71209717GG>AA	uc002shl.4	+	4	993_994	c.792_793GG>AA	c.(790-795)aaggat>aaAAat	p.D265N	ANKRD53_uc002shk.4_Missense_Mutation_p.D265N	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	265										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GGTTCTTGAAGGATGCCATGTG	0.545000														52			21		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381082	147381082	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:147381082G>T	uc021ovm.1	+	0	1000	c.1000G>T	c.(1000-1002)Gag>Tag	p.E334*	GJA8_uc001epu.2_Nonsense_Mutation_p.E334*	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	334					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGTGGAGGGCGAGGGGCCGCC	0.652000														8			7		8.12818e-05	8.16694e-05	1	1	0
PRKAB1	5564	broad.mit.edu	37	12	120114362	120114362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:120114362G>A	uc009zwu.3	+	5	656	c.553G>A	c.(553-555)Gga>Aga	p.G185R	PRKAB1_uc001txg.3_Missense_Mutation_p.G185R	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	185					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTCTCCCCCAGGACCCTACCA	0.522000														93			52		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579402	55579402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55579402G>A	uc001nhw.1	+	0	460	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V154L(2)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTGTGGGACGGTGTGTTCTCT	0.458000														94			38		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929415	4929415	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4929415G>A	uc010qyq.2	+	0	816	c.816G>A	c.(814-816)gtG>gtA	p.V272V		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTTGTTGTGATCCTTATTG	0.493000														108			55		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383804	85383804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:85383804G>A	uc002ble.3	+	4	2067	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	634					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCTTGGGGAAGAGGGACCCCA	0.662000														38			13		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10136059	10136059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:10136059C>T	uc002raa.3	+	12	1723	c.1552C>T	c.(1552-1554)Cct>Tct	p.P518S	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.P329S|GRHL1_uc010yjb.2_Missense_Mutation_p.P367S	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	518					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TGCTGTCCCTCCTTCTACCAA	0.458000														172			74		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285825	223285825	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:223285825G>A	uc021pjl.1	-	0	549	c.549C>T	c.(547-549)ttC>ttT	p.F183F	TLR5_uc001hnv.2_Silent_p.F183F|TLR5_uc001hnw.2_Silent_p.F183F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	183					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CACATACAAGGAATATTTGGT	0.423000														63			16		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6171884	6171884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6171884C>T	uc001amb.2	-	35	5311	c.5200G>A	c.(5200-5202)Gac>Aac	p.D1734N	CHD5_uc001alz.2_Missense_Mutation_p.D591N|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1734					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.Y1733Y(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCCAGATGTCGTAGATTTTC	0.622000														61			42		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931188	157931188	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:157931188G>A	uc003wno.3	-	6	1051	c.930C>T	c.(928-930)ctC>ctT	p.L310L	PTPRN2_uc003wnp.3_Silent_p.L293L|PTPRN2_uc003wnq.3_Silent_p.L310L|PTPRN2_uc003wnr.3_Silent_p.L272L|PTPRN2_uc011kwa.2_Silent_p.L333L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	310						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGTCCTTCAGGAGGGTATGAA	0.617000														49			80		0	0	1	0	0
LOC643802	643802	broad.mit.edu	37	16	53404654	53404654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:53404654C>T	uc021tik.1	-	0	388	c.248G>A	c.(247-249)cGa>cAa	p.R83Q		NM_001207030	NP_001193959			Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA.																		ATCATCTTTTCGTTCCTCTTC	0.333000														10			4		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366914	248366914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248366914C>T	uc010pzg.2	+	0	545	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTGACTTCCCCTCCCTACTA	0.413000														199			69		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422421	26422421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26422421G>A	uc003abz.1	+	42	6731	c.6481G>A	c.(6481-6483)Gag>Aag	p.E2161K	MYO18B_uc003aca.1_Missense_Mutation_p.E2042K|MYO18B_uc010guy.1_Missense_Mutation_p.E2043K|MYO18B_uc010guz.1_Missense_Mutation_p.E2041K|MYO18B_uc011aka.1_Missense_Mutation_p.E1315K|MYO18B_uc011akb.1_Missense_Mutation_p.E1674K|MYO18B_uc010gva.1_Missense_Mutation_p.E144K|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2161						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATAAACGAAGAGGCTGGGGA	0.512000														199			79		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3297131	3297131	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3297131A>G	uc002cun.1	-	4	1512	c.1472T>C	c.(1471-1473)gTt>gCt	p.V491A	MEFV_uc021tbw.1_Missense_Mutation_p.V280A|MEFV_uc021tbx.1_Missense_Mutation_p.V71A|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Missense_Mutation_p.V71A	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	491					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GATCTGCCCAACCATCTGGCC	0.582000														192			11		0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12847413	12847413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:12847413G>A	uc002gnr.4	+	9	1088	c.761G>A	c.(760-762)gGg>gAg	p.G254E	ARHGAP44_uc010vvk.2_Missense_Mutation_p.G254E|ARHGAP44_uc010vvl.2_Missense_Mutation_p.G254E|ARHGAP44_uc002gns.4_Missense_Mutation_p.G54E|ARHGAP44_uc010vvm.2_Missense_Mutation_p.G254E|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc002gnt.1_5'UTR	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	254					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCTTCCTTCGGGAAGCCGCTG	0.587000														6			8		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326748	61326748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61326748C>T	uc002lji.3	-	3	380	c.236G>A	c.(235-237)gGa>gAa	p.G79E	SERPINB3_uc002ljg.3_Missense_Mutation_p.G79E|SERPINB3_uc010dqa.3_Missense_Mutation_p.G79E|SERPINB3_uc010dqb.3_Missense_Mutation_p.G79E	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	79					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ATGAACATTTCCTGACCTATC	0.378000														87			26		0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117784497	117784497	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117784497G>A	uc001prs.2	-	4	950	c.804C>T	c.(802-804)ttC>ttT	p.F268F	TMPRSS13_uc009yzr.2_Silent_p.F233F|TMPRSS13_uc021qrc.1_Silent_p.F268F|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Silent_p.F268F	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	263	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GTTACCTCTCGAAACCCAGCT	0.502000														62			20		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677466	37677466	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37677466G>A	uc002ofq.3	-	4	1225	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ZNF585B_uc002ofr.1_Missense_Mutation_p.P139S	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATATATAGGGCTTCACTCTT	0.378000														125			63		0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79101083	79101083	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:79101083A>T	uc010oro.2	+	4	964	c.785A>T	c.(784-786)gAc>gTc	p.D262V	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_5'UTR	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	262						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATGTTGTGTGACACTATGGGG	0.373000														82			27		0	0	1	0	0
OR8G2	26492	broad.mit.edu	37	11	124095962	124095962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:124095962C>T	uc010saf.2	+	0	565	c.565C>T	c.(565-567)Cat>Tat	p.H189Y		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	189						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTGATTAACCATTATTTTTG	0.428000														149			55		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16461641	16461641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16461641G>A	uc001aya.2	-	6	1627	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	491	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGGGTCACGGAGAAACCCTC	0.687000														168			72		0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128357012	128357012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128357012G>A	uc003vno.1	+	1	448	c.395G>A	c.(394-396)tGg>tAg	p.W132*	FAM71F1_uc010llo.1_Nonsense_Mutation_p.W33*|FAM71F1_uc011koq.1_Missense_Mutation_p.M56I|FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.M53I|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Nonsense_Mutation_p.W132*	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	132										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AACCAGACATGGAACAGACCA	0.577000														55			21		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210863	35210863	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35210863C>G	uc003okf.1	+	14	1765	c.1759C>G	c.(1759-1761)Ctc>Gtc	p.L587V	SCUBE3_uc003okg.1_Missense_Mutation_p.L586V|SCUBE3_uc003okh.1_Missense_Mutation_p.L474V	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	587					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTGAAGATGCTCAGAAAGTC	0.627000														71			33		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812855	31812855	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:31812855C>T	uc002yod.3	+	0	210	c.210C>T	c.(208-210)tcC>tcT	p.S70S		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	70						intermediate filament		p.S70F(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGCCAGATCCTATCAGACAT	0.517000														97			45		0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3939121	3939121	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:3939121C>G	uc001qmk.1	-	0	116	c.61G>C	c.(61-63)Gac>Cac	p.D21H	PARP11_uc001qml.2_Missense_Mutation_p.D28H|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_5'UTR|PARP11_uc001qmn.2_5'UTR	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	21	WWE.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TCTGACGTGTCCATGTCATCC	0.408000														53			33		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169764	49169764	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49169764G>A	uc003cwe.3	-	2	623	c.324C>T	c.(322-324)atC>atT	p.I108I	LAMB2_uc003cwf.1_Silent_p.I108I	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	108	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R107H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTACATTCTGGATGCGATGGC	0.582000														71			43		0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86153922	86153922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:86153922C>T	uc001pbz.3	-	12	1848	c.1594G>A	c.(1594-1596)Ggg>Agg	p.G532R	ME3_uc001pca.3_Missense_Mutation_p.G532R|ME3_uc009yvk.3_Missense_Mutation_p.G532R	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	532					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TAGAGTCTCCCCTGGGACAGA	0.532000														71			27		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228118856	228118856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228118856G>A	uc002vom.2	+	13	956	c.794G>A	c.(793-795)gGa>gAa	p.G265E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	265	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAGACAAGGGAGCAATGGGC	0.423000														66			29		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627876	26627876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:26627876C>T	uc003xfc.1	-	1	1627	c.1191G>A	c.(1189-1191)tgG>tgA	p.W397*	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Nonsense_Mutation_p.W397*|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Nonsense_Mutation_p.W397*|ADRA1A_uc003xfh.1_Nonsense_Mutation_p.W397*	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	397					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	AGAAAAATTTCCATTCACAAA	0.527000														110			41		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125873440	125873441	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125873440_125873441CC>TT	uc003eim.1	-	5	866_867	c.676_677GG>AA	c.(676-678)ggg>AAg	p.G226K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.G125K|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.G252K|ALDH1L1_uc003eip.1_Missense_Mutation_p.G133K|ALDH1L1_uc011bkj.1_Missense_Mutation_p.G51K	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	226					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.G226W(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTTGTCGTTCCCGCGGATCCAG	0.614000														104			92		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72173110	72173110	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:72173110C>T	uc002llm.2	+	3	490	c.231C>T	c.(229-231)ctC>ctT	p.L77L	CNDP2_uc002lln.2_Intron|CNDP2_uc002llp.1_5'Flank	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	77						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity	p.P76Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		AGATCCCGCTCCCTCCTATTC	0.552000														53			24		0	0	1	0	0
SYPL2	284612	broad.mit.edu	37	1	110022014	110022014	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:110022014C>T	uc001dxp.3	+	5	1029	c.663C>T	c.(661-663)atC>atT	p.I221I	SYPL2_uc010ovk.2_Silent_p.I157I	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	221	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTGGCTTTATCAACTTCTTCC	0.557000														104			68		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	463297	463297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:463297G>A	uc001qif.1	-	7	1337	c.974C>T	c.(973-975)cCt>cTt	p.P325L	KDM5A_uc010sdn.1_Missense_Mutation_p.P284L|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	325					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P325S(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGGTAGTGGAGGAATTAGACA	0.393000			T	NUP98	AML									89			44		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702816	18702816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:18702816G>A	uc001bau.2	+	6	1411	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	IGSF21_uc001bav.2_Missense_Mutation_p.G164E	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	343						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCCCCCAAAGGACCCAAAATT	0.532000														240			73		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183241	200183241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:200183241G>A	uc009wzi.1	+	0	586	c.550G>A	c.(550-552)Ggg>Agg	p.G184R		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	184					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CAGCTACCACGGGGGGCTGTG	0.662000														32			13		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53682885	53682885	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53682885C>T	uc001sck.2	+	20	4811	c.4720C>T	c.(4720-4722)Ctg>Ttg	p.L1574L	ESPL1_uc001scj.2_Silent_p.L1249L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1574					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTTTCTACCCTGGACTCCAT	0.498000														51			21		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48133002	48133002	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48133002C>T	uc001rpz.4	-	23	2935	c.2385G>A	c.(2383-2385)tgG>tgA	p.W795*	AL831948_uc001rpv.3_Intron|RAPGEF3_uc001rpw.3_Nonsense_Mutation_p.W88*|RAPGEF3_uc001rpx.3_Nonsense_Mutation_p.W210*|RAPGEF3_uc010sln.2_Nonsense_Mutation_p.W250*|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Nonsense_Mutation_p.W753*|RAPGEF3_uc009zkq.3_Nonsense_Mutation_p.W753*	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	753					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCCGGTGGTTCCATGAGGGAT	0.602000														27			23		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36737185	36737185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:36737185C>T	uc002rpd.3	+	8	1627	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	521	Antistasin-like 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTTCGGTTTCCTTACTGATGC	0.478000														89			25		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21742362	21742362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:21742362C>T	uc003svc.3	+	37	6267	c.6236C>T	c.(6235-6237)tCt>tTt	p.S2079F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2079	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTATTAAGTCTGTCTTGGTT	0.398000									Kartagener syndrome					27			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315350	22315350	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:22315350G>A	uc001wbz.1	+	1	513	c.288G>A	c.(286-288)acG>acA	p.T96T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.T77T					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		TCCACCTGACGAAACCCTCAG	0.512000														41			7		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65242052	65242052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:65242052C>T	uc001xht.3	-	21	4684	c.4633G>A	c.(4633-4635)Gtg>Atg	p.V1545M	SPTB_uc001xhr.3_Missense_Mutation_p.V1545M|SPTB_uc001xhs.3_Missense_Mutation_p.V1545M|SPTB_uc001xhu.3_Missense_Mutation_p.V1545M|SPTB_uc010aqi.3_Missense_Mutation_p.V206M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1545					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCGCCTCCACCAGCTGCTGC	0.682000														10			16		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804912	39804912	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39804912C>T	uc002okw.2	-	0	1065	c.1065G>A	c.(1063-1065)ctG>ctA	p.L355L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	355	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGTCACATCCAGCGTCCCGT	0.682000														19			10		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961513	73961513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:73961513G>A	uc004eby.3	-	2	3496	c.2879C>T	c.(2878-2880)tCt>tTt	p.S960F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	960					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGTCATCAGATGGGAGTTG	0.433000														30			93		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155176	100155176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:100155176G>A	uc001dsg.3	+	6	1803	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	454	Poly-Glu.				regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GGAGGAGGAGGATGAAGGAGA	0.483000														44			13		0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123593843	123593843	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:123593843C>T	uc003vle.3	+	2	658	c.219C>T	c.(217-219)ttC>ttT	p.F73F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.F73F|SPAM1_uc022aks.1_Silent_p.F73F|SPAM1_uc003vlf.4_Silent_p.F73F|SPAM1_uc010lku.3_Silent_p.F73F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	73					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGAGCCTCTTCTCTTTCATAG	0.433000														49			11		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551755	39551756	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39551755_39551756CC>TT	uc002hwn.3	-	3	761_762	c.708_709GG>AA	c.(706-711)gtggaa>gtAAaa	p.E237K	KRT31_uc010cxn.3_Missense_Mutation_p.E237K	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	237	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGGTTGGTTTCCACCAGGGCCT	0.634000														86			37		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128445	152128445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152128445G>A	uc001ezs.1	-	2	1195	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	377	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGACC	0.468000														586			263		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190597928	190597928	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:190597928C>T	uc002uqw.2	+	16	3484	c.3396C>T	c.(3394-3396)gtC>gtT	p.V1132V	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Intron|ANKAR_uc002uqy.2_Silent_p.V228V	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1132						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGCTGATGTCCTTTATCTTC	0.323000														28			13		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65491335	65491335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65491335C>T	uc002aon.2	-	8	1470	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	430					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						AGGGCAGCGTCCCACGTCATA	0.527000														66			31		0	0	1	0	0
GNS	2799	broad.mit.edu	37	12	65146506	65146506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:65146506C>T	uc010ssq.2	-	2	490	c.320G>A	c.(319-321)gGa>gAa	p.G107E	GNS_uc001ssf.3_Missense_Mutation_p.G19E|GNS_uc001ssg.4_Missense_Mutation_p.G75E|GNS_uc010ssr.2_Intron	NM_002076	NP_002067	P15586	GNS_HUMAN	Homo sapiens glucosamine (N-acetyl)-6-sulfatase (GNS), mRNA.	75						lysosome	N-acetylglucosamine-6-sulfatase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CCCCATCTCTCCGATGAGAGC	0.348000														16			14		0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304717	21304717	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:21304717T>C	uc011lnh.2	-	0	596	c.539A>G	c.(538-540)aAc>aGc	p.N180S		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	180					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCTTGCAAGTTTGCTGATAA	0.403000														174			123		0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629089	51629089	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51629089G>A	uc010yct.2	+	1	752	c.657G>A	c.(655-657)ggG>ggA	p.G219G	SIGLEC9_uc002pvu.3_Silent_p.G219G	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	219	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCTTCCCTGGGGCCAGCGTGA	0.667000														119			40		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399629	47399629	+	Missense_Mutation	SNP	G	A	A	rs150346297		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47399629G>A	uc001cqp.4	-	8	1262	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	CYP4A11_uc001cqq.2_Missense_Mutation_p.S404F|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	404					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TTTGGGCAAGGAGCGCCCATC	0.557000														49			14		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473800	52473800	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:52473800G>A	uc002egw.2	-	6	1239	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	TOX3_uc010vgt.1_Silent_p.L351L	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	356					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGTTGAGAAGGAGAGAGGATG	0.527000														90			26		0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478457	14478457	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:14478457C>T	uc010xai.2	-	2		c.1107G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ACTTACTTTTCGTATTTTTCT	0.453000														8			5		0	0	1	0	0
NSUN3	63899	broad.mit.edu	37	3	93813945	93813945	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:93813945C>T	uc003drl.1	+	4	806	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	230							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						AGAAGGCATCCTGTAGGATAA	0.378000														69			37		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206023510	206023510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:206023510C>T	uc002var.2	+	10	1706	c.1499C>T	c.(1498-1500)cCc>cTc	p.P500L	PARD3B_uc010fub.2_Missense_Mutation_p.P500L|PARD3B_uc002vao.2_Missense_Mutation_p.P500L|PARD3B_uc002vap.2_Intron|PARD3B_uc002vaq.2_Missense_Mutation_p.P500L	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	500	PDZ 3.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTTGAGATCCCCCTGAATGAT	0.463000														113			56		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10396000	10396000	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10396000G>A	uc003wta.3	+	4	796	c.756G>A	c.(754-756)ggG>ggA	p.G252G	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	252	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACAGTGGGGGGCCTCTGGTCT	0.577000														65			24		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15540483	15540484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:15540483_15540484GG>AA	uc004cww.3	+	6	713_714	c.525_526GG>AA	c.(523-528)cgggca>cgAAca	p.A176T	BMX_uc004cwx.4_Missense_Mutation_p.A176T|BMX_uc004cwy.4_Missense_Mutation_p.A176T	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	176					cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R175L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGATACCTCGGGCAGTTCCTGT	0.436000														54			104		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671859	45671859	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45671859G>A	uc021qgn.1	-	0	615	c.615C>T	c.(613-615)atC>atT	p.I205I	CHST1_uc001mys.2_Silent_p.I205I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	205					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCACCGTCTTGATGGCCACGT	0.687000														35			26		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6060045	6060045	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:6060045G>A	uc001iiz.2	-	6	984	c.765C>T	c.(763-765)ctC>ctT	p.L255L	IL2RA_uc009xih.2_Silent_p.L183L	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	255					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCACTCAGGAGGAGGACGC	0.617000														36			5		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141012425	141012425	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:141012425G>A	uc004cog.3	+	41	5944	c.5799G>A	c.(5797-5799)gaG>gaA	p.E1933E	CACNA1B_uc022bqn.1_Silent_p.E1933E|CACNA1B_uc004coi.3_Silent_p.E1147E	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1935					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCATCAAAGAGTCTGTCTCCT	0.577000														5			6		0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933032	2933032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2933032G>A	uc001qlb.2	+	10	1303	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	ITFG2_uc010seb.2_Missense_Mutation_p.R211Q|ITFG2_uc010sec.2_Non-coding_Transcript	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 2 (ITFG2), mRNA.	388										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAGCTGGAGCGGATGGAGTCT	0.582000														109			74		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371759	76371759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:76371759G>A	uc001oxq.4	-	2	1121	c.878C>T	c.(877-879)cCt>cTt	p.P293L	LRRC32_uc001oxr.4_Missense_Mutation_p.P293L|LRRC32_uc010rsf.2_Missense_Mutation_p.P293L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	293						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCCTCGGAAGGTGCGTGGAT	0.637000														29			13		0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29572389	29572389	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29572389T>C	uc003nmt.4	-	21	2930	c.2594A>G	c.(2593-2595)gAa>gGa	p.E865G	GABBR1_uc003nmp.4_Missense_Mutation_p.E748G|GABBR1_uc003nms.4_Missense_Mutation_p.E748G|GABBR1_uc003nmu.4_Missense_Mutation_p.E803G|GABBR1_uc011dlr.2_Missense_Mutation_p.E688G	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	865					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CGACTGCCATTCCCCTCGGGT	0.587000														58			38		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162711576	162711576	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:162711576A>G	uc002ubx.4	+	4	697	c.513A>G	c.(511-513)agA>agG	p.R171R	SLC4A10_uc010fpa.1_Silent_p.R183R|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Silent_p.R182R|SLC4A10_uc002uby.4_Silent_p.R171R	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	171					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGAATTGAGAAGTTGTATTC	0.403000														57			23		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8814784	8814784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:8814784C>T	uc002glt.3	-	1	95	c.28G>A	c.(28-30)Gag>Aag	p.E10K	PIK3R5_uc010vuz.2_Missense_Mutation_p.E10K|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_Intron|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	10					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATGCGGTCCTCCGTGCATGTC	0.667000														32			42		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33802297	33802297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:33802297G>A	uc002hjn.3	-	4	2213	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	SLFN12L_uc021tuy.1_Missense_Mutation_p.P471L	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	503						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGGACTGGAGGCTTGTCCTG	0.453000														34			24		0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100389828	100389828	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:100389828G>T	uc004axn.3	-	1	505	c.17C>A	c.(16-18)tCa>tAa	p.S6*	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'Flank	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	6										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TTGGTCTGGTGAAGTGGAAGA	0.388000														41			70		3.71514e-35	3.80544e-35	1	1	0
OR1N2	138882	broad.mit.edu	37	9	125315490	125315490	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:125315490G>A	uc011lyx.2	+	0	42	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14V(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						AACTACAAGGGATGGGAAAAC	0.448000														27			37		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091637	74091637	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74091637G>A	uc021ulp.1	-	3	2751	c.2433C>T	c.(2431-2433)tcC>tcT	p.S811S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GTCCGCTCCGGGAAAGGAAAA	0.612000														53			33		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502305	94502305	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94502305G>A	uc001dqh.3	-	25	3957	c.3853C>T	c.(3853-3855)Ctg>Ttg	p.L1285L		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1285					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCGCAAACAGAGGTCCTGAA	0.453000														148			47		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555844	182555844	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:182555844A>G	uc009wxz.2	-	1	355	c.98T>C	c.(97-99)gTt>gCt	p.V33A	RNASEL_uc001gpk.3_Missense_Mutation_p.V33A|RNASEL_uc009wya.1_Missense_Mutation_p.V33A	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	33					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCGTTTTGAACAGCTTTAAT	0.522000														91			67		0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24586911	24586911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24586911C>T	uc001wlv.3	+	4	726	c.446C>T	c.(445-447)tCc>tTc	p.S149F	NRL_uc001wlq.3_5'Flank|DCAF11_uc001wlw.3_Missense_Mutation_p.S149F|DCAF11_uc001wlz.3_Intron|DCAF11_uc001wly.3_Missense_Mutation_p.S105F|DCAF11_uc010tny.2_Missense_Mutation_p.S16F|DCAF11_uc001wmc.3_Intron|DCAF11_uc001wmb.4_Missense_Mutation_p.S123F|DCAF11_uc001wma.4_Missense_Mutation_p.S149F	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	149						CUL4 RING ubiquitin ligase complex	protein binding										GGAAGCTTCTCCCTTGGAGAA	0.498000														23			39		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098072	220098072	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:220098072C>T	uc002vkg.3	+	6	910	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	ANKZF1_uc010zkv.1_Nonsense_Mutation_p.Q190*|ANKZF1_uc010zkw.1_Nonsense_Mutation_p.Q36*|ANKZF1_uc002vkh.3_Nonsense_Mutation_p.Q36*|ANKZF1_uc002vki.3_Nonsense_Mutation_p.Q246*|ANKZF1_uc002vkj.1_Nonsense_Mutation_p.Q234*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	246						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCACAGCCCAGGGGCTTCG	0.542000														75			41		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045727	53045727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53045727C>T	uc001sat.3	-	0	233	c.200G>A	c.(199-201)gGa>gAa	p.G67E		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	67	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGTCCCTCCAAGGCCAAC	0.622000														59			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55849824	55849824	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55849824C>T	uc010qhy.1	-	17	2328	c.1933_splice	c.e17-1	p.A645_splice	PCDH15_uc010qhq.2_Splice_Site_p.A645_splice|PCDH15_uc010qhr.2_Splice_Site_p.A640_splice|PCDH15_uc021pqv.1_Splice_Site_p.A640_splice|PCDH15_uc021pqw.1_Splice_Site_p.A652_splice|PCDH15_uc010qht.2_Splice_Site_p.A647_splice|PCDH15_uc021pqx.1_Splice_Site_p.A640_splice|PCDH15_uc001jjv.1_Splice_Site_p.A618_splice|PCDH15_uc021pqy.1_Splice_Site_p.A640_splice|PCDH15_uc021pqz.1_Splice_Site_p.A618_splice|PCDH15_uc010qhv.1_Splice_Site_p.A640_splice|PCDH15_uc010qhw.1_Splice_Site_p.A603_splice|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Splice_Site_p.A640_splice|PCDH15_uc010qia.1_Splice_Site_p.A618_splice|PCDH15_uc001jju.1_Splice_Site_p.A640_splice|PCDH15_uc010qib.1_Splice_Site_p.A618_splice|PCDH15_uc001jjw.3_Splice_Site_p.A640_splice	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	640	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATCAGTTGCCTTCAGAGAGA	0.348000										HNSCC(58;0.16)				49			10		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020266	56020266	+	Silent	SNP	C	T	T	rs138884931		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56020266C>T	uc010rjd.2	+	0	591	c.591C>T	c.(589-591)tcC>tcT	p.S197S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTAGCCTGTCCTTCTGTGGAT	0.433000														126			61		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8093775	8093775	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:8093775G>A	uc011kwt.2	+	5		c.830G>A			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						ACGTAGTGACGGTCCATCAGC	0.562000														26			6		0	0	1	0	0
DNAJC9	23234	broad.mit.edu	37	10	75005793	75005793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75005793C>T	uc001jtr.3	-	2	778	c.463G>A	c.(463-465)Gag>Aag	p.E155K	DNAJC9_uc010qkg.2_Missense_Mutation_p.E155K|DNAJC9-AS1_uc021ptm.1_5'Flank	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	155					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					CTGGGTTCCTCTGTGTACTGC	0.463000														47			30		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321796	46321796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:46321796G>A	uc001rox.3	-	10	1975	c.1688C>T	c.(1687-1689)cCt>cTt	p.P563L	SCAF11_uc001row.3_Missense_Mutation_p.P248L|SCAF11_uc001roy.1_Missense_Mutation_p.P637L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	563					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACAAGATACAGGTTGGTACAC	0.353000														68			30		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515442	140515442	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140515442C>T	uc003liq.3	+	0	643	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAAAATCCCAGAGAGCA	0.438000														33			30		0	0	1	0	0
PRKACB	5567	broad.mit.edu	37	1	84647985	84647985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:84647985G>A	uc001djl.3	+	2	445	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	PRKACB_uc001djj.3_Missense_Mutation_p.A71T|PRKACB_uc001djn.3_Missense_Mutation_p.A75T|PRKACB_uc010oru.2_Missense_Mutation_p.A59T|PRKACB_uc010ort.2_Missense_Mutation_p.A78T|PRKACB_uc001djp.3_Missense_Mutation_p.A77T|PRKACB_uc001djq.3_Missense_Mutation_p.A74T|PRKACB_uc010orv.2_Missense_Mutation_p.A58T|PRKACB_uc001dji.3_Missense_Mutation_p.A71T|PRKACB_uc009wcf.2_Missense_Mutation_p.A77T	NM_182948	NP_891993	P22694	KAPCB_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, beta (PRKACB), transcript variant 1, mRNA.	71	Protein kinase.				G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	p.Y118Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		ACAGTATTATGCCATGAAGAT	0.353000														52			15		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764291	110764291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:110764291C>T	uc003vft.4	+	3	2509	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.P488L|LRRN3_uc003vfs.4_Missense_Mutation_p.P488L|LRRN3_uc022akc.1_Missense_Mutation_p.P488L	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	488	Ig-like C2-type.					integral to membrane		p.P488L(2)|p.T487I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGCGTAACTCCCAAAGAAGGG	0.403000														56			21		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113994189	113994189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113994189G>A	uc010yxt.2	-	7	1053	c.887C>T	c.(886-888)cCc>cTc	p.P296L	PAX8_uc010yxu.2_Missense_Mutation_p.P296L|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_Intron|LOC654433_uc002tjq.4_Splice_Site|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Non-coding_Transcript	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	296					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCCACCACGGGGTAGGTCTG	0.687000			T	PPARG	follicular thyroid		Thyroid dysgenesis							7			3		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32023795	32023795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32023795G>A	uc003nzl.2	-	23	8502	c.8300C>T	c.(8299-8301)aCc>aTc	p.T2767I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2825	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTACTGCACGGTGAAGGAGTC	0.677000														76			27		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81244351	81244351	+	Missense_Mutation	SNP	G	A	A	rs140809152		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:81244351G>A	uc001xux.2	-	14	2422	c.2251C>T	c.(2251-2253)Cgt>Tgt	p.R751C	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	751						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGCTGACCACGATGAATTTTA	0.368000														36			36		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700062	164700062	+	Missense_Mutation	SNP	G	A	A	rs139504152	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:164700062G>A	uc003fei.3	-	46	5447	c.5384C>T	c.(5383-5385)tCg>tTg	p.S1795L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1795	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAAGGAAGCGAATTTTTATT	0.343000										HNSCC(35;0.089)				19			25		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159568	94159568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:94159568G>A	uc011cdt.2	+	7	1430	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	GRID2_uc011cdu.2_Missense_Mutation_p.G296E|GRID2_uc010ikz.1_Missense_Mutation_p.G72E	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	391					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAGAAAATGGAGGCAATCCC	0.388000														63			40		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313484	54313484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54313484C>T	uc002qcj.4	-	2	1649	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E477K|NLRP12_uc002qci.4_Missense_Mutation_p.E477K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E477K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	477	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCTGCTCCTCAAATAGGATT	0.587000														83			23		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135350649	135350649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135350649G>A	uc001lnj.1	+	6	1083	c.1050G>A	c.(1048-1050)atG>atA	p.M350I	CYP2E1_uc001lnk.1_Missense_Mutation_p.M213I|CYP2E1_uc009ybl.1_Missense_Mutation_p.M151I|CYP2E1_uc009ybm.1_Missense_Mutation_p.M4I|CYP2E1_uc001lnl.1_Missense_Mutation_p.M151I	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	350					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGCCCTACATGGATGCTGTGG	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					83			39		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151935417G>A	uc022chl.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_uc004fgp.3_Silent_p.F250F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000														37			99		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475286	50475286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50475286G>A	uc010ybk.1	+	2	317	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						AATGGAGCACGAAGGAGAGTT	0.677000														39			43		0	0	1	0	0
RPS4Y2	140032	broad.mit.edu	37	Y	22942837	22942837	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:22942837C>T	uc011nbb.2	+	6	807	c.711C>T	c.(709-711)tcC>tcT	p.S237S		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	237					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						CTTGGATTTCCCTGCCCAGGG	0.438000														11			25		0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471062	76471062	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76471062A>T	uc003yaq.3	+	8	1042	c.772A>T	c.(772-774)Aaa>Taa	p.K258*	HNF4G_uc003yar.3_Nonsense_Mutation_p.K295*	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	258					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CGATCCAGTAAAAATTAAGAA	0.408000														58			26		0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944708	944708	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:944708C>T	uc002wej.3	-	3	565	c.465G>A	c.(463-465)aaG>aaA	p.K155K	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	155	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCCGCAGGTCTTTCCATTGT	0.642000														35			13		0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26586192	26586192	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26586192A>G	uc001bls.1	+	6	1371	c.1240A>G	c.(1240-1242)Aag>Gag	p.K414E	CEP85_uc001blr.3_Missense_Mutation_p.K414E|CEP85_uc010ofa.1_Missense_Mutation_p.K363E	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	414						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TGACCTTGAAAAGAAACTCTC	0.443000														60			36		0	0	1	0	0
REEP4	80346	broad.mit.edu	37	8	21996458	21996458	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21996458G>A	uc003xau.1	-	5	987	c.534C>T	c.(532-534)tcC>tcT	p.S178S	REEP4_uc010ltt.1_Intron	NM_025232	NP_079508	Q9H6H4	REEP4_HUMAN	Homo sapiens receptor accessory protein 4 (REEP4), mRNA.	178						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GCCTCCGGTGGGACACCTGGT	0.662000														16			16		0	0	1	0	0
SLBP	7884	broad.mit.edu	37	4	1695353	1695353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:1695353G>A	uc003gdi.1	-	7	899	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	SLBP_uc003gdk.1_Missense_Mutation_p.P223S|SLBP_uc011bvf.1_Missense_Mutation_p.P227S|SLBP_uc003gdl.1_Missense_Mutation_p.P179S	NM_006527	NP_006518	Q14493	SLBP_HUMAN	Homo sapiens stem-loop binding protein (SLBP), mRNA.	262					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TCTCTCAAGGGTTCAGTTAAA	0.532000											OREG0016036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			17		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623825	9623825	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:9623825C>T	uc003wss.3	+	24	3635	c.3630C>T	c.(3628-3630)gcC>gcT	p.A1210A	TNKS_uc011kww.2_Silent_p.A973A	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1210	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGTTTGGGGCCGGGATTTATT	0.408000														76			47		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619146	17619146	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:17619146C>A	uc002zmf.3	-	7	1065	c.1037G>T	c.(1036-1038)cGg>cTg	p.R346L	CECR5_uc002zmh.3_Missense_Mutation_p.R316L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	346							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CTGTTGCTGCCGTGTGCCCCC	0.597000														50			33		1.836e-18	1.86252e-18	1	1	0
KANK4	163782	broad.mit.edu	37	1	62740493	62740493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62740493C>T	uc001dah.4	-	2	660	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	95								p.V95V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCCCTTGGCACCACGGGAGAC	0.607000														91			61		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716752	13716752	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:13716752C>T	uc001rbt.2	-	12	3599	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1140					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGTTCTCCTTTGTTCGGA	0.607000														53			23		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830357	147830357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:147830357C>T	uc003ikx.4	-	5	549	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	TTC29_uc003ikw.4_Missense_Mutation_p.R74Q|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.R74Q	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	74							binding	p.R74Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATAACCATCTCGCAGCATGTC	0.493000														23			4		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329958	51329958	+	Silent	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51329958A>T	uc002ptl.3	-	3	568	c.537T>A	c.(535-537)tcT>tcA	p.S179S	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.S178S|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	179	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TCTTGTCACAAGATGTGTCCG	0.567000														96			28		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41525829	41525829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:41525829C>T	uc003xok.3	-	38	5434	c.5350G>A	c.(5350-5352)Gag>Aag	p.E1784K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E938K|ANK1_uc003xoi.3_Missense_Mutation_p.E1784K|ANK1_uc003xoj.3_Missense_Mutation_p.E1784K|ANK1_uc003xol.3_Missense_Mutation_p.E1622K|ANK1_uc003xom.3_Missense_Mutation_p.E1825K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1784	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCACCTGCTCTTCTTGGCCT	0.632000														74			33		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903457	166903457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166903457C>T	uc002udo.4	-	10	1427	c.1200G>A	c.(1198-1200)atG>atA	p.M400I	SCN1A_uc010fpk.3_Missense_Mutation_p.M400I|SCN1A_uc021vsb.1_Missense_Mutation_p.M400I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	400						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M400K(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAAAAAATATCATGTACGTTT	0.383000														69			35		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7556215	7556215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7556215C>T	uc010sge.2	-	5	1380	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	CD163L1_uc001qsy.3_Missense_Mutation_p.E442K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	442	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D451D(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAGCTGACTCATTCCCAGTG	0.453000														82			33		0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951317	73951317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:73951317G>A	uc003pgo.3	-	4	1150	c.649C>T	c.(649-651)Cct>Tct	p.P217S	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.P144S	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	217						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GAAGGCTGAGGAACGCTAAGA	0.507000														93			40		0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19244145	19244145	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:19244145A>G	uc002ktl.2	-	4	742	c.602T>C	c.(601-603)gTt>gCt	p.V201A	ABHD3_uc010xao.1_Non-coding_Transcript|ABHD3_uc002ktk.2_5'UTR	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	201						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						ATGGTGAATAACTGTCTCCAA	0.423000														36			26		0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33585094	33585094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33585094G>A	uc002nug.1	+	4	786	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	158	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTTGGTTTCGAATTGCTAAG	0.393000														42			26		0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124181719	124181719	+	Silent	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124181719G>C	uc001ufp.3	+	12	1607	c.1479G>C	c.(1477-1479)ggG>ggC	p.G493G	TCTN2_uc009zya.3_Silent_p.G492G	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	493					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TAGAAGTCGGGATTAATGAAA	0.363000														115			47		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816271	156816271	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156816271C>T	uc021ygm.1	+	28	3417	c.3279C>T	c.(3277-3279)gtC>gtT	p.V1093V	CYFIP2_uc011ddn.2_Silent_p.V1068V|CYFIP2_uc011ddo.2_Silent_p.V898V|CYFIP2_uc021ygn.1_Silent_p.V1093V|CYFIP2_uc021ygo.1_Silent_p.V1093V|CYFIP2_uc003lwt.3_Silent_p.V997V|CYFIP2_uc011ddp.2_Silent_p.V828V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1119					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTTCGAGGTCATCCTGACCC	0.612000														52			13		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28225794	28225794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:28225794C>T	uc009xky.3	-	14	2211	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	ARMC4_uc010qds.2_Missense_Mutation_p.E230K|ARMC4_uc010qdt.2_Missense_Mutation_p.E397K|ARMC4_uc001itz.3_Missense_Mutation_p.E705K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	705							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCCGGGTTTCCTTATCTTCA	0.488000														37			26		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70991093	70991093	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:70991093G>C	uc003pfg.4	-	8	1035	c.876_splice	c.e8+1	p.D292_splice	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Splice_Site_p.D49_splice	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	292	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGAAACTTACGTCGATGCCAT	0.562000														29			9		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37447020	37447020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:37447020C>T	uc001uvw.3	-	2	788	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	SMAD9_uc001uvx.3_Missense_Mutation_p.E149K|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	149					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGGTTATATTCACTGTGTCTT	0.522000														29			31		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516330	140516330	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140516330C>T	uc003liq.3	+	0	1531	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	438	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATAACGGTCCTGGTCTCCG	0.577000														85			91		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9275539	9275539	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:9275539C>T	uc002knv.3	+	10	6045	c.5781C>T	c.(5779-5781)tcC>tcT	p.S1927S	ANKRD12_uc002knw.3_Silent_p.S1904S|ANKRD12_uc002knx.3_Silent_p.S1904S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1927						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCATTGTATCCAACGAACAAG	0.358000														120			62		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624321	5624321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:5624321G>A	uc003gij.3	-	13	2498	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	EVC2_uc003gik.3_Missense_Mutation_p.P735L|EVC2_uc011bwb.2_Missense_Mutation_p.P255L	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	815						integral to membrane		p.A814V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CACGGCCTCAGGAGCGTCATC	0.632000														24			27		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796622	57796622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:57796622C>T	uc003hch.3	+	3	1945	c.1598C>T	c.(1597-1599)cCt>cTt	p.P533L	REST_uc003hci.3_Missense_Mutation_p.P533L|REST_uc010ihf.3_Missense_Mutation_p.P207L	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	533	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	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|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)					TTACATGGTCCTGTGAATGAT	0.373000														20			12		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55710238	55710238	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55710238T>C	uc002qjq.3	-	7	1536	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	PTPRH_uc010esv.3_Missense_Mutation_p.N310S|PTPRH_uc002qjs.2_Missense_Mutation_p.N495S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	488	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AATGGTGCTGTTGGTCCAGTC	0.592000														28			17		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176761405	176761405	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176761405C>A	uc003mge.3	-	7	1028	c.791_splice	c.e7-1	p.D264_splice		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	264	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATGATTGTCTGCAGGACCA	0.572000														28			33		2.95478e-19	3.00158e-19	1	1	0
NOS1	4842	broad.mit.edu	37	12	117696830	117696830	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117696830C>T	uc001twn.2	-	15	3183	c.2472_splice	c.e15+1	p.E824_splice	NOS1_uc021ren.1_Splice_Site_p.E488_splice|NOS1_uc021reo.1_Splice_Site_p.E488_splice|NOS1_uc001twm.2_Splice_Site_p.E824_splice	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	824	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTCATCTCACCTCCCCATTC	0.488000														46			19		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083878	152083878	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152083878C>T	uc009wne.1	-	2	2087	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E	TCHH_uc001ezp.2_Silent_p.E605E	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	605	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCACCTCCTCGCGCTTCA	0.677000														94			40		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312210	31312210	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31312210T>A	uc001msv.3	-	6	1182	c.944A>T	c.(943-945)aAa>aTa	p.K315I	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	315					intracellular signal transduction			p.G314L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTGTTTCTTTTCCCACTGT	0.323000														31			15		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676889	137676889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137676889G>A	uc004cfe.3	+	29	2921	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	847	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGCCCAAAGGGTCGCGGAGG	0.627000														25			23		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26107965	26107965	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:26107965G>A	uc010ayu.3	-	0	385	c.279C>T	c.(277-279)ttC>ttT	p.F93F	ATP10A_uc001zax.3_Non-coding_Transcript	NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	93					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCAGCGCGATGAAGACAAAGT	0.627000														15			9		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239286	55239286	+	Missense_Mutation	SNP	C	T	T	rs113773573		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55239286C>T	uc002qgu.1	+	3	583	c.565C>T	c.(565-567)Ctt>Ttt	p.L189F		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	189	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GACACCTGCCCTTGCAGGGAC	0.567000														40			34		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916375	72916375	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72916375G>A	uc002jme.1	-	1	739	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	USH1G_uc010wro.1_Silent_p.L83L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	186					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGGCGGCTCAGGGTGCTGGAC	0.682000														54			21		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150935938	150935938	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150935938C>T	uc003lue.4	-	2	3613	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L	FAT2_uc010jhx.1_Silent_p.L1200L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1200	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCTCTGTCCAGCTGCTGGG	0.488000														67			9		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814471	123814471	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123814471G>A	uc010sab.2	-	0	75	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAACACCAGGAACTGTATGA	0.488000														67			10		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131924268	131924268	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:131924268C>T	uc003qcs.1	-	15	2007	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	MED23_uc003qcq.3_Silent_p.R617R|MED23_uc011eca.1_Silent_p.R252R|MED23_uc003qct.1_Silent_p.R617R|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	611					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATGATGCATCCGGTAGCTAA	0.438000														65			50		0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780365	68780365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:68780365C>T	uc003hdr.1	-	8	1166	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.D346N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	349	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.D349H(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383000														106			27		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	113993113	113993113	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113993113G>A	uc010yxt.2	-	8	1111	c.945C>T	c.(943-945)tcC>tcT	p.S315S	PAX8_uc010yxu.2_Intron|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_Non-coding_Transcript|LOC654433_uc002tjq.4_Non-coding_Transcript|LOC654433_uc010fks.3_Non-coding_Transcript|LOC654433_uc010fkt.3_Non-coding_Transcript|LOC654433_uc002tjr.4_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	315	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCTAGAACTGGACACCTCGG	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis							30			19		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20201469	20201469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:20201469C>T	uc003sus.4	-	3	326	c.17G>A	c.(16-18)aGa>aAa	p.R6K	MACC1_uc010kug.3_Missense_Mutation_p.R6K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	6					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	p.R6I(2)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AAAATGTTTTCTTTCAGTGAT	0.333000														71			31		0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49983634	49983634	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49983634C>T	uc002pnu.3	+	6	671	c.561C>T	c.(559-561)ctC>ctT	p.L187L	FLT3LG_uc002pnw.3_Silent_p.L105L|FLT3LG_uc010yau.2_Silent_p.L187L|FLT3LG_uc002pnv.3_Silent_p.L105L|FLT3LG_uc002pnx.3_Silent_p.L187L|FLT3LG_uc010yav.2_Silent_p.L105L	NM_001459	NP_001450	P49771	FLT3L_HUMAN	Homo sapiens fms-related tyrosine kinase 3 ligand (FLT3LG), transcript variant 3, mRNA.	187					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCCCTCTGCTCCTCCTACTGC	0.726000														24			7		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894361	166894361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166894361C>T	uc002udo.4	-	16	3098	c.2871G>A	c.(2869-2871)tgG>tgA	p.W957*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.W929*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.W946*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	957			W -> L (in SMEI; dbSNP:rs121917917).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CCATACAGTCCCACATGGTCT	0.493000														201			65		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890549	23890549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23890549C>T	uc001ywj.4	-	0	2445	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCAAAGGTCTCCGGTGTGGCA	0.592000														37			27		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031961	79031961	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79031961A>C	uc003kgc.3	+	1	7445	c.7373A>C	c.(7372-7374)gAt>gCt	p.D2458A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2458						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAAGAAAGATAATTTGGAA	0.368000														42			6		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138047	31138047	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:31138047G>A	uc010qdz.2	-	6	1722	c.1287C>T	c.(1285-1287)acC>acT	p.T429T	ZNF438_uc001ivn.3_Silent_p.T380T|ZNF438_uc010qdy.2_Silent_p.T419T|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Silent_p.T429T|ZNF438_uc001ivp.4_Silent_p.T419T|ZNF438_uc010qea.2_Silent_p.T429T|ZNF438_uc010qeb.2_Silent_p.T429T|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				ATTTTTTCAGGGTCCCCAGCT	0.428000														29			16		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232806	100232806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100232806G>A	uc003hus.4	-	6	920	c.836C>T	c.(835-837)tCc>tTc	p.S279F	ADH1B_uc003hut.4_Missense_Mutation_p.S239F|ADH1B_uc011ceh.2_Missense_Mutation_p.S124F|ADH1B_uc011cei.1_Missense_Mutation_p.S239F	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	279					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.A278T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACATAACAGGGAAGCCATCTG	0.443000														107			34		0	0	1	0	0
RUNX1	861	broad.mit.edu	37	21	36171749	36171749	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:36171749C>T	uc002yuh.3	-	4	2313	c.735G>A	c.(733-735)caG>caA	p.Q245Q	RUNX1_uc010gmu.3_Silent_p.Q272Q|RUNX1_uc010gmv.3_Silent_p.Q272Q|RUNX1_uc002yuj.4_Silent_p.Q140Q|RUNX1_uc002yuk.4_Silent_p.Q272Q|RUNX1_uc002yul.1_Silent_p.Q37Q|RUNX1_uc002yum.1_Silent_p.Q76Q	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	Homo sapiens runt-related transcription factor 1 (RUNX1), transcript variant 2, mRNA.	245	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|calcium ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P245L(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATGGTTGGATCTGCCTTGTAT	0.453000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""									54			23		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489155	73489155	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:73489155C>T	uc010wsa.2	+	14	2280	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	KIAA0195_uc002jnz.4_Silent_p.I686I|KIAA0195_uc010wsb.2_Silent_p.I326I|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	686					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCACATGATCAGCCTCTTCA	0.637000														50			11		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945320	4945320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:4945320C>T	uc002cyd.1	-	10	1274	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	395					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGGAGTCTCCCGGCGGTACTT	0.612000														53			10		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635421	145635421	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145635421C>T	uc003ijs.2	+	8	2148	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	490						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGTAATGGTCCTTTGGTTGG	0.388000														44			27		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176856	140176856	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140176856C>T	uc003lhd.2	+	0	2413	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L769L|PCDHAC2_uc011czy.2_Silent_p.L769L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	806					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGACCTCATGGCCTTCA	0.572000														60			6		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183498158	183498158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183498158C>T	uc001gqg.3	+	6	938	c.688C>T	c.(688-690)Ctt>Ttt	p.L230F	SMG7_uc010pob.2_Missense_Mutation_p.L259F|SMG7_uc021pga.1_Missense_Mutation_p.L188F|SMG7_uc001gqf.3_Missense_Mutation_p.L230F|SMG7_uc001gqh.3_Missense_Mutation_p.L230F|SMG7_uc010poc.2_Missense_Mutation_p.L188F	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	230					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAAAAAGCACTTTCTAAAGC	0.408000														75			29		0	0	1	0	0
TBC1D3	729873	broad.mit.edu	37	17	36288274	36288274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:36288274G>A	uc010wdk.1	+	4	544	c.543G>A	c.(541-543)atG>atA	p.M181I	TBC1D3_uc002hoo.2_Missense_Mutation_p.M120I|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Missense_Mutation_p.M40I|TBC1D3_uc010cvf.1_Missense_Mutation_p.M120I|TBC1D3_uc002hoq.2_Missense_Mutation_p.M120I|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	120	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGAGGAAATGAAGTTGAAAA	0.557000														679			52		0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329971	50329971	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50329971G>A	uc003czb.3	-	3	287	c.287_splice	c.e3-1	p.A96_splice	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	101							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGGCGGCTAGCTGCGCGTAG	0.657000														45			18		0	0	1	0	0
PLGLA	285189	broad.mit.edu	37	2	107007464	107007464	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:107007464C>T	uc002tdp.3	+	2		c.313C>T								Homo sapiens plasminogen-like A (PLGLA), non-coding RNA.																		TCCACTTCTCCCCGCAGACCT	0.463000														7			8		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2186140	2186140	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:2186140C>T	uc003zhc.3	+	31	4605	c.4506C>T	c.(4504-4506)gcC>gcT	p.A1502A	SMARCA2_uc003zhd.3_Silent_p.A1484A|SMARCA2_uc010mha.3_Silent_p.A1417A|SMARCA2_uc011llw.2_Silent_p.A188A|SMARCA2_uc011llx.2_Silent_p.A148A|SMARCA2_uc003zhe.3_Silent_p.A190A|SMARCA2_uc010mhb.3_Silent_p.A172A	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1502					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TTAAGAGTGCCCGGCAGAAAA	0.463000														105			19		0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346122	11346122	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:11346122C>T	uc001asg.3	+	1	1285	c.951C>T	c.(949-951)ctC>ctT	p.L317L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	317					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		AGCTCAACCTCCTGCTGGGAC	0.547000														69			60		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884658	52884658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52884658C>T	uc001sam.3	-	3	1105	c.896G>A	c.(895-897)aGa>aAa	p.R299K		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	299	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATACAAGGCTCTCAGGAAGTT	0.483000														70			34		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111540123	111540123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:111540123C>T	uc003kpv.1	-	14	1599	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R69Q	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	442						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R442Q(2)|p.R69Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGAGGGGTTTCGGCGACGCGT	0.478000														158			19		0	0	1	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20796748	20796748	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:20796748C>T	uc002gyf.3	-	1	492	c.372G>A	c.(370-372)aaG>aaA	p.K124K	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	124										large_intestine(3)|lung(3)|skin(1)	7						TCTGTTTTTCCTTATATTCAG	0.279000														18			17		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71177029	71177029	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:71177029G>A	uc003tvy.3	+	10	1695	c.1695G>A	c.(1693-1695)acG>acA	p.T565T	WBSCR17_uc003tvz.3_Silent_p.T264T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	565	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.T565K(1)|p.T565M(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACAAGGGCACGGGACGCTGCC	0.567000														92			105		0	0	1	0	0
KDM5D	8284	broad.mit.edu	37	Y	21868069	21868069	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:21868069G>A	uc004fug.3	-	26	4720	c.4432C>T	c.(4432-4434)Cga>Tga	p.R1478*	KDM5D_uc011naz.2_Nonsense_Mutation_p.R1509*|KDM5D_uc010nwy.3_Nonsense_Mutation_p.R1421*|KDM5D_uc004fuf.3_Nonsense_Mutation_p.R653*	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	1478					chromatin modification|spermatogenesis	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			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TCTTCTTCTCGGCCCACCTGA	0.473000														2			2		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141779	29141779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29141779C>T	uc011dlm.2	+	0	469	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GTCATATGATCGTTATGTAGC	0.448000														241			86		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377984	113377984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:113377984G>A	uc003eam.3	-	6	2956	c.2545C>T	c.(2545-2547)Cca>Tca	p.P849S	KIAA2018_uc003eal.3_Missense_Mutation_p.P793S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	849					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAGACAGATGGTAACACAGCA	0.458000														43			27		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211112	50211112	+	Silent	SNP	C	T	T	rs116571500	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:50211112C>T	uc001zxu.3	-	18	2101	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	ATP8B4_uc010ber.3_Silent_p.Q526Q|ATP8B4_uc010ufd.2_Silent_p.Q463Q|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	653					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Q653*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TAACACCCTCCTGTAACTTAT	0.348000														82			43		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326289	24326289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24326289G>A	uc003xeb.3	+	6	702	c.589G>A	c.(589-591)Gat>Aat	p.D197N		NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	197					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGGCATCCATGATGAAAAGTA	0.313000														60			16		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156851341	156851341	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156851341G>A	uc001fqh.1	+	16	2354	c.2298G>A	c.(2296-2298)cgG>cgA	p.R766R	NTRK1_uc001fqf.1_Silent_p.R730R|NTRK1_uc009wsi.1_Silent_p.R465R|NTRK1_uc001fqi.1_Silent_p.R760R|NTRK1_uc009wsk.1_Silent_p.R763R	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	766	Protein kinase.			QR -> HG (in Ref. 9; CAA29888).	Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTGGCAGCGGGAGCCCCAGC	0.682000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				20			12		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965211	123965211	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:123965211C>T	uc022bag.1	+	0	1461	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	ZHX2_uc003ypk.1_Silent_p.F487F	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	487	Required for interaction with NFYA.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGAAGTGGTTCAGTGACCACC	0.587000														30			34		0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858082	1858082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1858082G>A	uc001lue.1	+	6	951	c.823G>A	c.(823-825)Gga>Aga	p.G275R	SYT8_uc001lud.2_Missense_Mutation_p.G275R|TNNI2_uc021qbt.1_5'Flank|TNNI2_uc021qbu.1_5'Flank|TNNI2_uc021qbv.1_5'Flank	NM_138567	NP_612634	Q8NBV8	SYT8_HUMAN	Homo sapiens synaptotagmin VIII (SYT8), mRNA.	275	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGCGTCCAGGACTTGCAGG	0.682000														18			10		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72138966	72138966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72138966C>T	uc002fcb.3	+	15	2547	c.2192C>T	c.(2191-2193)tCc>tTc	p.S731F	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	731	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAAGCAGTCCTTGCAGGTG	0.597000														67			8		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499431	51499431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51499431G>A	uc002puq.1	-	5	988	c.802C>T	c.(802-804)Cag>Tag	p.Q268*	KLK8_uc002pur.1_Nonsense_Mutation_p.Q223*|KLK8_uc002pus.1_Nonsense_Mutation_p.Q82*|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Nonsense_Mutation_p.Q223*|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	223					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GTGATGCCCTGGAGTGCACCA	0.562000														89			18		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699566	149699566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:149699566C>T	uc003qmj.3	+	2	693	c.515C>T	c.(514-516)cCc>cTc	p.P172L	TAB2_uc011eec.2_Missense_Mutation_p.P140L|TAB2_uc010kia.1_Missense_Mutation_p.P172L|TAB2_uc010kib.2_Missense_Mutation_p.P172L|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	172					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CAACAAACTCCCAGATTTAAT	0.423000														52			23		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544559	82544559	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82544559T>A	uc003uhx.2	-	6	13032	c.12743A>T	c.(12742-12744)aAt>aTt	p.N4248I	PCLO_uc003uhv.2_Missense_Mutation_p.N4248I|PCLO_uc010lec.3_Missense_Mutation_p.N1213I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4179	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGTAATATTTTTTCTGAG	0.428000														33			14		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364265	103364265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:103364265C>T	uc001dum.3	-	55	4559	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	COL11A1_uc001duk.3_Missense_Mutation_p.G598E|COL11A1_uc001dul.3_Missense_Mutation_p.G1402E|COL11A1_uc001dun.3_Missense_Mutation_p.G1363E|COL11A1_uc009weh.3_Missense_Mutation_p.G1286E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1402	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGGCTTTCCTGCAGGTCC	0.463000														50			30		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290899	62290899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:62290899G>A	uc002jed.3	-	1	830	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	TEX2_uc002jec.3_Missense_Mutation_p.R227W|TEX2_uc002jee.3_Missense_Mutation_p.R227W	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	227					signal transduction|sphingolipid metabolic process	integral to membrane		p.R227R(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GACTCCTGCCGGGAAGTGTCC	0.532000														121			51		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542460	77542460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:77542460C>T	uc011bgk.2	+	4	1376	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ROBO2_uc021xat.1_Missense_Mutation_p.R261C|ROBO2_uc003dpy.4_Missense_Mutation_p.R245C|ROBO2_uc003dpz.3_Missense_Mutation_p.R245C|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	245	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.R245C(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTAGAATTTCGTTGTCAAGT	0.418000														67			31		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37893028	37893028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37893028C>T	uc003asx.1	-	11	1962	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_5'Flank|CARD10_uc003asw.1_Missense_Mutation_p.E363K|CARD10_uc003asy.1_Missense_Mutation_p.E649K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	649					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGCCTCACCTCTCTTGGTTCC	0.602000														169			79		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97727839	97727839	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97727839G>A	uc021xbo.1	-	5		c.691C>T			GABRR3_uc021xbp.1_Intron	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GTGTCAAGAGGAAACCTGCTG	0.398000														11			4		0	0	1	0	0
HFE	3077	broad.mit.edu	37	6	26092868	26092868	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:26092868G>A	uc010jqe.1	+	4	809	c.649_splice	c.e4+1	p.V217_splice	HFE_uc003nfy.1_Intron|HFE_uc003nfz.1_Intron|HFE_uc003nfx.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Intron|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron	NM_139006	NP_620575	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 6, mRNA.	220	Alpha-3.|Ig-like C1-type.		T -> I (in dbSNP:rs4986950).		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTGGCAAGGGTAAACAGA	0.463000									Hemochromatosis					79			49		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130279194	130279194	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:130279194G>A	uc004brh.3	-	7	1117	c.915C>T	c.(913-915)atC>atT	p.I305I	FAM129B_uc004bri.3_Silent_p.I292I|FAM129B_uc004brj.4_Silent_p.I305I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	305							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGTCAGTTCGGATGACGGCCT	0.642000														131			205		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625925	20625925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20625925G>A	uc001mqd.3	+	2	907	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	212					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGTGGGGCTGGGCAATGTCTG	0.637000														130			46		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34773096	34773096	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34773096C>T	uc002xfb.3	+	6	795	c.624C>T	c.(622-624)tcC>tcT	p.S208S	EPB41L1_uc002xeu.3_Silent_p.S146S|EPB41L1_uc010zvo.1_Silent_p.S208S|EPB41L1_uc002xev.3_Silent_p.S208S|EPB41L1_uc002xew.3_Silent_p.S111S|EPB41L1_uc002xex.3_Silent_p.S177S|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.S146S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	208	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TGCCATGCTCCTTTGTCACGC	0.612000														105			48		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130763803	130763803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:130763803C>T	uc003ysr.3	-	9	1810	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	310						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CAGAAGGGTTCCTCTATTCTT	0.478000														69			24		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463260	62463260	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:62463260G>T	uc001xfu.1	+	1	720	c.523_splice	c.e1+1	p.V175_splice	SYT16_uc010tsd.1_Splice_Site_p.V175_splice	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	175				V -> I (in Ref. 1; BAC76810).						central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AAAAAAGCAAGGTAAGCTAGC	0.383000														38			50		2.74695e-27	2.80884e-27	1	1	0
CRNN	49860	broad.mit.edu	37	1	152383374	152383374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152383374C>T	uc001ezx.2	-	2	258	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	62	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTCTTCATCCAGCAGACGC	0.542000														36			35		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6243326	6243326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:6243326C>T	uc002kmz.4	-	6	587	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	L3MBTL4_uc002kmy.4_Missense_Mutation_p.E143K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E143K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	143					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTGGTCTTTTCACACCATCCT	0.373000														75			61		0	0	1	0	0
WDR54	84058	broad.mit.edu	37	2	74652712	74652712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74652712G>A	uc002slb.3	+	9	949	c.889G>A	c.(889-891)Ggt>Agt	p.G297S		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	297										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						ACACTGTCATGGTGAGTGTGT	0.597000														105			57		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719407	108719407	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108719407G>A	uc003dxl.3	-	20	2271	c.2184C>T	c.(2182-2184)atC>atT	p.I728I	MORC1_uc011bhn.2_Silent_p.I707I	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	728					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCTCACCAGGATTATATCTG	0.373000														80			34		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080059	152080059	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152080059C>T	uc009wne.1	-	2	5906	c.5634G>A	c.(5632-5634)agG>agA	p.R1878R	TCHH_uc001ezp.2_Silent_p.R1878R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1878	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGTAATTTCCTTTCCCGTT	0.577000														107			57		0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099353	40099353	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:40099353G>A	uc001zkj.1	-	1	1145	c.279C>T	c.(277-279)gtC>gtT	p.V93V	GPR176_uc010uck.1_Silent_p.V33V	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	93					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGGCACACAGACCAGGCTGG	0.493000														162			86		0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12090088	12090088	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12090088G>A	uc001ato.2	+	7	1242	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	283										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TGCGCAGGGTGAGCATCCCGC	0.667000														45			29		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117746795	117746795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117746795G>A	uc003pxp.1	-	0	224	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	9					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACAAGCTTCGGAATAAGACAG	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									87			45		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782936	80782936	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:80782936C>T	uc010ysh.2	+	10	1664	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	CTNNA2_uc010yse.2_Silent_p.I553I|CTNNA2_uc010ysf.2_Silent_p.I553I|CTNNA2_uc010ysg.2_Silent_p.I553I|CTNNA2_uc010ysi.2_Silent_p.I185I	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	553					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCATACACATCATCAATGCTG	0.507000														121			74		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191941042	191941042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:191941042G>A	uc002usm.2	-	3	598	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	STAT4_uc002usn.2_Missense_Mutation_p.H95Y|STAT4_uc002uso.2_Missense_Mutation_p.H95Y|STAT4_uc002usp.4_Missense_Mutation_p.H95Y	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	95					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GGATTTCCATGAAATTTTCCC	0.328000														50			19		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28763259	28763259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28763259C>T	uc002rmb.2	+	11	769	c.725C>T	c.(724-726)tCa>tTa	p.S242L	PLB1_uc010ezj.2_Missense_Mutation_p.S253L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	242	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGTAATTGCTCAGAGGAGACC	0.622000														29			24		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700768	72700768	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72700768C>A	uc002jlg.3	-	1	334	c.231G>T	c.(229-231)agG>agT	p.R77S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Missense_Mutation_p.R80S|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Missense_Mutation_p.R77S|CD300LF_uc002jli.3_Missense_Mutation_p.R80S|CD300LF_uc010wra.2_Missense_Mutation_p.R77S|CD300LF_uc002jlj.1_Missense_Mutation_p.R80S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	77	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACACCCGGTCCCTCTTCACCT	0.507000														197			189		4.31785e-110	4.43511e-110	1	1	0
SND1	27044	broad.mit.edu	37	7	127724845	127724845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:127724845C>T	uc003vmi.3	+	18	2406	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F	SND1_uc010lle.3_Missense_Mutation_p.S380F	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	727					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTAGAGGGCTCCTATGCCCCC	0.542000														67			17		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24627402	24627402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24627402C>T	uc001wmn.1	+	17	3142	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S	RNF31_uc001wml.1_Missense_Mutation_p.P814S|RNF31_uc010alg.1_Missense_Mutation_p.P724S|RNF31_uc001wmo.1_Missense_Mutation_p.P432S|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.P149S|IRF9_uc001wmq.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	965					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCGGGCAGTCCCTGGAGGTGA	0.557000														90			5		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182650	133182650	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:133182650T>A	uc003ytj.3	-	7	1391	c.1166A>T	c.(1165-1167)aAc>aTc	p.N389I	KCNQ3_uc003yti.3_Missense_Mutation_p.N269I|KCNQ3_uc010mdt.3_Missense_Mutation_p.N389I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	389					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCTGTTGGGGTTGGTAGCATA	0.517000														64			23		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128387	103128387	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:103128387C>T	uc001phn.1	+	69	10677	c.10533C>T	c.(10531-10533)ttC>ttT	p.F3511F	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.F3504F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3504					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGATGTACTTCATTATTTCTG	0.423000														23			4		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916465	10916465	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10916465A>G	uc002yip.1	-	19	1549	c.1181T>C	c.(1180-1182)gTt>gCt	p.V394A	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.V376A|TPTE_uc002yir.1_Missense_Mutation_p.V356A|TPTE_uc010gkv.1_Missense_Mutation_p.V256A	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	394	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R394L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAATATGCAACATATCTCTT	0.338000														64			7		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875730	51875730	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51875730C>T	uc002pwj.3	-	0	231	c.60G>A	c.(58-60)ctG>ctA	p.L20L	NKG7_uc002pwk.3_Silent_p.L20L	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	20						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAAGCAATCAGGCAGAACA	0.612000														62			26		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788875	13788875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13788875C>T	uc003jfd.2	-	50	8639	c.8597G>A	c.(8596-8598)gGa>gAa	p.G2866E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2866					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGTCAATTCCACAATCCAC	0.413000									Kartagener syndrome					126			12		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51768239	51768239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:51768239C>T	uc001csl.3	-	9	983	c.878G>A	c.(877-879)gGg>gAg	p.G293E	TTC39A_uc001csk.3_Missense_Mutation_p.G258E|TTC39A_uc010ond.2_Missense_Mutation_p.G230E|TTC39A_uc010one.2_Missense_Mutation_p.G257E|TTC39A_uc010onf.2_Missense_Mutation_p.G261E|TTC39A_uc001csn.3_Missense_Mutation_p.G292E|TTC39A_uc001cso.1_Missense_Mutation_p.G289E|TTC39A_uc009vyy.1_Missense_Mutation_p.G230E	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	293							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GTTGACGTTCCCAGTACCTGG	0.617000														9			3		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68896789	68896789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:68896789G>A	uc001dei.1	-	12	1463	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	470			P -> L (in LCA2).		visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACAAAGATGGGTTCTGATGG	0.388000														44			30		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73455548	73455548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:73455548C>T	uc003tzw.3	+	4	290	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Missense_Mutation_p.P67S|ELN_uc003tzy.3_Missense_Mutation_p.P57S|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Missense_Mutation_p.P67S|ELN_uc003tzp.3_Missense_Mutation_p.P57S|ELN_uc003tzq.3_Missense_Mutation_p.P67S|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.P67S|ELN_uc003tzt.3_Missense_Mutation_p.P67S|ELN_uc003tzu.3_Missense_Mutation_p.P67S|ELN_uc003tzv.3_Missense_Mutation_p.P57S|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.P57S|ELN_uc011kff.2_Missense_Mutation_p.P67S	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	67					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	ATCCACAGTTCCCGGAGGGCT	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							485			162		0	0	1	0	0
LANCL3	347404	broad.mit.edu	37	X	37431144	37431144	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37431144C>T	uc011mkd.2	+	0	323	c.21C>T	c.(19-21)ttC>ttT	p.F7F	LANCL3_uc004ddp.2_Silent_p.F7F	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	7							catalytic activity			lung(4)|pancreas(1)	5						AGCGCTGCTTCGCCAATCGCT	0.677000														5			15		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88383988	88383988	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:88383988G>A	uc002ssr.3	+	1	376	c.291G>A	c.(289-291)ggG>ggA	p.G97G	SMYD1_uc002ssq.2_Silent_p.G97G|MIR4780_uc021vkp.1_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGAGATATGGGAAGGTGCCCA	0.527000														53			19		0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394539	109394539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:109394539C>T	uc001dwa.3	-	1	1017	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	250										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TGACCTTGGCCGTATTTGAAC	0.388000														124			78		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140720594G>A	uc003ljk.2	+	0	2241	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D686N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	687					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACCCAACGATTCGGACCT	0.682000														167			26		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635321	7635321	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7635321C>T	uc001qsz.3	-	13	3293	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	CD163_uc001qta.3_Silent_p.G1055G|CD163_uc009zfw.2_Silent_p.G1088G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1055					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCCAAGGATCCCGACTGCAA	0.428000														75			41		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957283	49957283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49957283C>T	uc004dow.1	-	4	2205	c.2081G>A	c.(2080-2082)gGg>gAg	p.G694E	AKAP4_uc004dou.1_Missense_Mutation_p.G685E|AKAP4_uc004dov.1_Missense_Mutation_p.G311E|AKAP4_uc010njp.1_Missense_Mutation_p.G516E	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	694					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATAAATTGCCCGTTCGCTTG	0.458000														16			26		0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970116	118970116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:118970116G>A	uc003ksm.2	+	2	883	c.673G>A	c.(673-675)Gag>Aag	p.E225K	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.E225K|FAM170A_uc003kso.3_Missense_Mutation_p.E178K	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	225						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GGTGACCATGGAGAACGGCTT	0.587000														133			23		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236086	21236086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21236086G>A	uc002red.3	-	24	4290	c.4162C>T	c.(4162-4164)Cgt>Tgt	p.R1388C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1388			R -> H (in dbSNP:rs13306187).		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	p.R1388C(4)|p.R1388H(1)|p.A1387P(1)		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)	ATGTGGTAACGAGCCCGAAGG	0.527000														135			67		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537510	95537510	+	Silent	SNP	G	A	A	rs111349391		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95537510G>A	uc002stw.1	+	0	279	c.186G>A	c.(184-186)tcG>tcA	p.S62S	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	62					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACCAGTCGGAGCGGCAGC	0.682000														47			11		0	0	1	0	0
QDPR	5860	broad.mit.edu	37	4	17506047	17506047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:17506047G>A	uc003gpd.3	-	2	430	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Missense_Mutation_p.L53F	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	84					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GCAACGCAAAGAATTGCATCC	0.468000														53			24		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009090	46009090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46009090G>A	uc011bal.1	-	6	1848	c.1736C>T	c.(1735-1737)tCc>tTc	p.S579F	FYCO1_uc003cpb.4_Missense_Mutation_p.S579F	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	579					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTGCAGACTGGAGTTCACAGG	0.632000														77			35		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012984	73012984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:73012984G>A	uc003hgg.2	+	3	1122	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	NPFFR2_uc010iig.2_Missense_Mutation_p.G124R|NPFFR2_uc003hgi.2_Missense_Mutation_p.G243R|NPFFR2_uc003hgh.2_Missense_Mutation_p.G240R	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	342					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CATCATGTATGGAAGGATTGG	0.512000														55			27		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23653976	23653977	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:23653976_23653977CC>TT	uc002zww.3	+	18	3871_3872	c.3275_3276CC>TT	c.(3274-3276)tcc>tTT	p.S1092F	BCR_uc002zwx.3_Missense_Mutation_p.S1048F|BCR_uc011aiy.2_Missense_Mutation_p.S681F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1092	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TACCGCGTGTCCGGTGTGGCCA	0.649000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									57			25		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874038	36874038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:36874038C>T	uc003cgj.3	-	20	7152	c.6904G>A	c.(6904-6906)Gag>Aag	p.E2302K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2302					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTTCAAACTCCTCCGGGTAG	0.527000														37			16		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245852057	245852057	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:245852057C>T	uc001ibf.1	+	11	6212	c.5772C>T	c.(5770-5772)tcC>tcT	p.S1924S	KIF26B_uc001ibg.1_Silent_p.S1542S|KIF26B_uc001ibh.1_Silent_p.S1166S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1924					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACAGCAGCTCCGTGGGCGGCA	0.716000														28			8		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83334282	83334282	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83334282G>A	uc010uoi.2	-	15	2075	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	AP3B2_uc010uoh.2_Missense_Mutation_p.A633V|AP3B2_uc010uoj.2_Missense_Mutation_p.A601V|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.A269V|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	633					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGTGGCCTTGGCATTAAGCAG	0.612000														142			57		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32798488	32798488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:32798488C>T	uc001utx.3	+	36	5378	c.4882C>T	c.(4882-4884)Ccg>Tcg	p.P1628S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGACTATCTCCCGGAGACCAT	0.562000														17			30		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675743	62675743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62675743G>A	uc021ooc.1	+	4	1732	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	L1TD1_uc001dae.4_Missense_Mutation_p.E433K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	433	Glu-rich.							p.E433Q(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ctcagggctagaggaggaaga	0.527000														35			16		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248058928	248058928	+	Silent	SNP	C	T	T	rs147416022	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248058928C>T	uc010pzb.2	+	0	40	c.40C>T	c.(40-42)Cta>Tta	p.L14L	OR2W3_uc001idp.1_Silent_p.L14L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATTTCATCCTACTGGGATT	0.468000														36			28		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27109596	27109596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:27109596C>T	uc011lno.2	+	0	450	c.8C>T	c.(7-9)tCt>tTt	p.S3F	TEK_uc010mjc.1_Missense_Mutation_p.S3F|TEK_uc011lnn.1_Missense_Mutation_p.S3F|TEK_uc003zqi.4_Missense_Mutation_p.S3F|TEK_uc011lnp.2_Missense_Mutation_p.S3F	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	3					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGCATGGACTCTTTAGCCAGC	0.403000														91			65		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966157	20966157	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20966157C>T	uc010vbe.2	-	54	11049	c.11049G>A	c.(11047-11049)gaG>gaA	p.E3683E	DNAH3_uc010vbd.2_Silent_p.E1118E	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3683	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTTCTTCTCTCTTGAACAA	0.493000														111			21		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338074	72338074	+	Splice_Site	SNP	G	A	A	rs77828767		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:72338074G>A	uc009zrw.1	+	3	397	c.256_splice	c.e3-1	p.E86_splice	TPH2_uc001swy.2_Splice_Site	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	86	ACT.				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)	GTTTCCACAGGAAAAACGTGT	0.423000														53			29		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57496666	57496666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57496666G>A	uc003dit.2	-	4	501	c.320C>T	c.(319-321)cCt>cTt	p.P107L	DNAH12_uc003diu.2_Missense_Mutation_p.P107L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	107	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						AGGTACTAAAGGACTACTTTC	0.353000														40			20		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48129637	48129637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:48129637C>T	uc002xut.3	-	7	1240	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	PTGIS_uc010zyi.2_Missense_Mutation_p.E257K	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	396					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.E396*(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GTGTAGATTTCTGGGTCTCTC	0.592000														74			66		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761054	92761054	+	Nonsense_Mutation	SNP	G	A	A	rs4729075		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:92761054G>A	uc003umh.1	-	4	5447	c.4231C>T	c.(4231-4233)Cga>Tga	p.R1411*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.R1411*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.R1411*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1411								p.R1411*(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGACCTCTCGGAGTTGTTTT	0.398000														130			139		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57594309	57594310	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57594309_57594310CC>TT	uc001snd.3	+	62	10565_10566	c.10099_10100CC>TT	c.(10099-10101)ccg>TTg	p.P3367L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3367	LDL-receptor class A 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACGAGCCCCCGGACTGCCGT	0.639000														59			45		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032498	21032498	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21032498C>T	uc010sil.2	+	8	1329	c.1264C>T	c.(1264-1266)Caa>Taa	p.Q422*	SLCO1B3_uc001rek.3_Nonsense_Mutation_p.Q422*|SLCO1B3_uc001rel.3_Nonsense_Mutation_p.Q422*|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	422					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTCTTGTTTCAACTTCTATA	0.313000														34			19		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487920	24487920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:24487920C>T	uc003jgr.2	-	11	2725	c.2219G>A	c.(2218-2220)gGa>gAa	p.G740E	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	740					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGAATCATTTCCTTCATAGGC	0.463000										HNSCC(23;0.051)				111			18		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802848	185802848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:185802848G>A	uc002uph.3	+	3	3319	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	909						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAATTGTCAGATGTTTCCAA	0.413000														50			30		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001429	52001429	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52001429C>T	uc002pwx.1	-	4	1304	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	SIGLEC12_uc002pww.1_Silent_p.G298G|SIGLEC12_uc010eoy.1_Silent_p.G143G	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	416	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding	p.W415*(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGGTCAGGCTCCCCCAGGTCC	0.622000														60			31		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617635	54617635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:54617635G>A	uc022adk.1	+	3	811	c.406G>A	c.(406-408)Gag>Aag	p.E136K	VSTM2A_uc010kzf.3_Missense_Mutation_p.E136K	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	136	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CAACTACGGGGAGCTTCAGGA	0.527000														12			7		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54101548	54101548	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:54101548G>A	uc002rxp.2	-	42	5084	c.5028C>T	c.(5026-5028)ttC>ttT	p.F1676F	PSME4_uc010yop.1_Silent_p.F1562F|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.F1051F|PSME4_uc010fbv.1_Silent_p.F820F|PSME4_uc010fbt.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1676					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.A1676E(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTGTTTAGGAAAATAAAGA	0.373000														50			33		0	0	1	0	0
LOC440905	440905	broad.mit.edu	37	2	130785891	130785891	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:130785891C>T	uc002tpy.1	-	0		c.3601G>A			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		CCTGGGTTTCCTTCCAGTGAG	0.498000														16			13		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114384269	114384269	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:114384269G>A	uc009zwi.2	-	11	1563	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	RBM19_uc001tvn.4_Silent_p.L473L|RBM19_uc001tvm.3_Silent_p.L473L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	473	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding	p.L473F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GTAACACGTGGAGCATCCTGC	0.557000														51			16		0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360273	21360273	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21360273C>A	uc021roq.1	+	0	428	c.428C>A	c.(427-429)cCa>cAa	p.P143Q	RNASE3_uc001vyj.3_Missense_Mutation_p.P143Q	NM_002935	NP_002926	P12724	ECP_HUMAN	Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.	143					RNA catabolic process|defense response to bacterium	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	AACAGAGATCCACGGGATTCT	0.483000														84			4		0.00909568	0.00912351	1	1	0
GDF5OS	554250	broad.mit.edu	37	20	34021686	34021686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34021686G>A	uc002xcj.3	+	1	172	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	GDF5_uc010gfc.1_Intron|GDF5_uc002xck.1_3'UTR					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						TGCCACCCAGGAAGACAGAGG	0.562000														70			46		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784013	151784013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:151784013G>A	uc003luv.2	-	0	828	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	221					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAATAGGAAGGAGGTGACCTG	0.537000														69			71		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49362169	49362169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49362169C>T	uc003cwq.2	-	5	740	c.661G>A	c.(661-663)Gat>Aat	p.D221N	USP4_uc003cwr.2_Missense_Mutation_p.D221N|USP4_uc021wxv.1_Missense_Mutation_p.D221N	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	221					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CATGTGCCATCTTCATTTTGA	0.443000														76			30		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118535096	118535096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:118535096G>A	uc001ehk.2	-	35	5422	c.5354C>T	c.(5353-5355)tCc>tTc	p.S1785F	SPAG17_uc021osr.1_Missense_Mutation_p.S295F	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1785						cilium|flagellar axoneme|microtubule		p.S1785S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TACCTTAAGGGAAACCTGCAG	0.443000														51			35		0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099816	71099816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71099816C>T	uc003hfd.3	+	3	282	c.170C>T	c.(169-171)cCa>cTa	p.P57L		NM_152997	NP_694542	Q8NFU4	FDSCP_HUMAN	Homo sapiens follicular dendritic cell secreted protein (FDCSP), mRNA.	57	Pro-rich.					extracellular region											CCACCAATTCCATTTCCAAGA	0.403000														114			81		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105137922	105137922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105137922G>A	uc004emd.3	+	5	779	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	159	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TATATCTGCCGAGAAATCCTT	0.403000										HNSCC(51;0.14)				2			15		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633791	7633791	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7633791C>T	uc001qsz.3	-	14	3437	c.3309G>A	c.(3307-3309)ctG>ctA	p.L1103L	CD163_uc001qta.3_Silent_p.L1103L|CD163_uc009zfw.2_Silent_p.L1136L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1103					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATCTGCATTCAGGCAAGAAT	0.473000														86			56		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031725	36031725	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36031725C>T	uc002xgx.3	+	13	2003	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	SRC_uc002xgy.3_Silent_p.F518F|SRC_uc021wdd.1_Non-coding_Transcript	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	518	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGCAGGCCTTCCTGGAGGACT	0.677000														11			7		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21158759	21158759	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:21158759C>T	uc001iqi.3	-	5	889	c.492G>A	c.(490-492)agG>agA	p.R164R	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	164					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCACGTCTTTCCTATAAGAAA	0.363000														44			22		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110734506	110734506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:110734506G>A	uc003puc.3	-	1	248	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	METTL24_uc003pub.2_5'Flank|DDO_uc003pud.3_Missense_Mutation_p.H82Y	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	54					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGATAAGTGTGAGGAATAAGC	0.443000														79			45		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487744	131487744	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:131487744C>T	uc002trv.2	+	0	1102	c.1020C>T	c.(1018-1020)caC>caT	p.H340H		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	340						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCAGGAGGCACCAGGCCATCT	0.522000														8			6		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92189528	92189528	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:92189528G>A	uc001xzs.1	-	3	314	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	58					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAACACTGGATTTTCTTTA	0.348000														24			3		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85279304	85279304	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:85279304T>A	uc001szv.3	-	3	977	c.484A>T	c.(484-486)Att>Ttt	p.I162F	SLC6A15_uc010sul.2_Missense_Mutation_p.I55F|SLC6A15_uc001szy.3_Missense_Mutation_p.I162F	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	162					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCAGCCAATGATGACGTTG	0.378000														55			19		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239307550	239307550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:239307550C>T	uc002vye.3	+	16	2185	c.2066C>T	c.(2065-2067)tCg>tTg	p.S689L	TRAF3IP1_uc002vyf.3_Missense_Mutation_p.S623L	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	689	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		AATTTGACTTCGAGAAGGTGA	0.358000														35			26		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21108397	21108397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:21108397G>A	uc001iqi.3	-	19	2408	c.2011C>T	c.(2011-2013)Ccg>Tcg	p.P671S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	671					regulation of actin filament length		actin binding|structural constituent of muscle	p.P671Q(1)|p.P671P(1)|p.P671L(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTATCTCCGGGGTCATGCTT	0.423000														188			54		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78417125	78417125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:78417125G>A	uc003kfu.4	+	4	667	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	188	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATGTGCATTGGCCCAGAAGG	0.488000														72			60		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970781	123970781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:123970781G>A	uc001lfv.3	+	8	7201	c.6841G>A	c.(6841-6843)Gaa>Aaa	p.E2281K	TACC2_uc001lfw.3_Missense_Mutation_p.E427K|TACC2_uc009xzx.3_Missense_Mutation_p.E2236K|TACC2_uc010qtv.2_Missense_Mutation_p.E2285K|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.E359K|TACC2_uc001lga.3_Missense_Mutation_p.E359K|TACC2_uc009xzy.3_Missense_Mutation_p.E359K|TACC2_uc001lgb.3_Missense_Mutation_p.E316K|TACC2_uc010qtw.1_Missense_Mutation_p.E376K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2281						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAACCAGCAGGAAAACCCCCC	0.512000														29			10		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241573	155241573	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155241573A>G	uc003inw.2	-	13	3613	c.3613T>C	c.(3613-3615)Tca>Cca	p.S1205P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1205	Cadherin 10.		S -> L (in dbSNP:rs11935573).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1205L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCATTTCCTGAGAGGATGCTG	0.398000														85			42		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249538	238249538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:238249538G>A	uc002vwl.2	-	37	8306	c.8021C>T	c.(8020-8022)tCc>tTc	p.S2674F	COL6A3_uc002vwo.2_Missense_Mutation_p.S2468F|COL6A3_uc010znj.1_Missense_Mutation_p.S2067F|COL6A3_uc002vwj.2_Missense_Mutation_p.S55F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2674	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATTGTCCACGGACTCAGAGGG	0.572000														49			22		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074180	108074180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108074180G>A	uc003dwz.3	+	4	1051	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	HHLA2_uc011bhl.2_Missense_Mutation_p.E149K|HHLA2_uc010hpu.3_Missense_Mutation_p.E213K|HHLA2_uc003dwy.4_Missense_Mutation_p.E213K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	213	Ig-like C1-type.					integral to membrane		p.I212N(1)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						ATGTACAATTGAAAATTCACT	0.418000														87			40		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94722890	94722890	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:94722890G>A	uc001ycs.1	+	16	2113	c.1959G>A	c.(1957-1959)agG>agA	p.R653R		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	653						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTGTGTGAGGAAACTCCTGT	0.368000														25			5		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248677	141248677	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:141248677G>A	uc003llp.3	-	1	477	c.360C>T	c.(358-360)ctC>ctT	p.L120L	PCDH1_uc011dbf.2_Silent_p.L98L|PCDH1_uc003llq.3_Silent_p.L120L	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	120	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGCATTCACGGAGCCCCTCAC	0.592000														33			29		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997319	173997319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:173997319C>T	uc021xhm.1	+	5	1968	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	NLGN1_uc003fio.1_Missense_Mutation_p.P510S|NLGN1_uc010hww.1_Missense_Mutation_p.P550S|NLGN1_uc003fip.1_Missense_Mutation_p.P510S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	527					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.G550A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACGAGGTTCCCTATGTACT	0.458000														20			29		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195593	3195593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3195593A>G	uc002fvh.1	-	0	284	c.284T>C	c.(283-285)gTt>gCt	p.V95A		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCACAGGGAACTGCACGCTT	0.557000														10			21		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184530	72184530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72184530C>T	uc002fcc.4	-	4	785	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E205K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E60K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	205										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGCCGAGTTCCCCCTGCAAC	0.532000														240			53		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155732417	155732417	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:155732417C>T	uc003qqm.3	-	10	1489	c.1386G>A	c.(1384-1386)cgG>cgA	p.R462R		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	462							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GCTCACTCATCCGTGTTTCCA	0.428000														41			22		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237430	29237430	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:29237430C>T	uc001wqe.3	+	0	1144	c.945C>T	c.(943-945)tcC>tcT	p.S315S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	315				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTTCCTGTCCCTGCACCACC	0.662000														72			87		0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100787272	100787272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100787272G>A	uc003hvf.4	+	7	858	c.768G>A	c.(766-768)tgG>tgA	p.W256*	DAPP1_uc010ilh.3_Nonsense_Mutation_p.W256*	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	256	PH.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TATTACGCTGGAAATTGGTGA	0.358000														25			13		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														88			25		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5115762	5115762	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:5115762G>A	uc010bud.3	-	0	385	c.148C>T	c.(148-150)Cta>Tta	p.L50L	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Silent_p.L50L	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	50						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CTCTGTTCTAGGAAGACGGTG	0.587000														75			16		0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145580114	145580114	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145580114G>A	uc003zcb.3	-	6	1147	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Silent_p.S84S|FBXL6_uc003zca.3_Silent_p.S351S|FBXL6_uc010mfx.3_Silent_p.S118S|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	357					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCTCCTCTAGGCTAGGGAAGC	0.642000														58			21		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154191521	154191521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154191521C>T	uc003inh.2	+	1	150	c.65C>T	c.(64-66)cCa>cTa	p.P22L	TRIM2_uc003ing.2_5'UTR|TRIM2_uc003ini.1_Missense_Mutation_p.P13L	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	0						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GCCGGCCCCCCATGTCAGTGG	0.488000														104			29		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100896428	100896428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100896428C>T	uc003pqj.4	-	5	1137	c.670G>A	c.(670-672)Gag>Aag	p.E224K	SIM1_uc021zdg.1_Missense_Mutation_p.E224K|SIM1_uc010kcu.3_Missense_Mutation_p.E224K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	224	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E224K(4)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTTGATCTCCGTGACGGCG	0.617000														41			25		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131212013	131212013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:131212013G>A	uc004ewn.3	-	11	2210	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	FRMD7_uc022cdy.1_Missense_Mutation_p.R558C|FRMD7_uc011muy.2_Missense_Mutation_p.R663C	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	678					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GAAGACAGGCGGATTCTGGCC	0.398000														10			42		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:7578211C>T	uc002gim.2	-	5	832	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.3_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.2_Missense_Mutation_p.R174Q|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(217)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(11)|p.R213P(10)|p.R213fs*34(10)|p.0?(8)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R213R(4)|p.F212L(3)|p.R213G(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.R81Q(2)|p.F212S(2)|p.R213>L(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.D208fs*1(1)|p.F212Y(1)|p.T211fs*28(1)|p.R213fs*35(1)|p.R209fs*6(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)		CACACTATGTCGAAAAGTGTT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				16			24		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101715405	101715405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101715405G>A	uc001tia.1	+	24	3195	c.3039G>A	c.(3037-3039)atG>atA	p.M1013I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1013					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTATTCTGATGAGGTATTTAT	0.323000														68			28		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978133	10978133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:10978133C>T	uc001qyy.1	-	0	736	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	246					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CATGATATTTCTATGGCCATG	0.378000														70			35		0	0	1	0	0
CRAT	1384	broad.mit.edu	37	9	131857787	131857787	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131857787C>T	uc004bxh.3	-	13	2052	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	CRAT_uc004bxk.4_Silent_p.S569S	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	590					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGTTGTAGGCCGACAGGGAGA	0.647000														15			31		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490941	157490941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:157490941C>T	uc009wsm.3	-	10	2539	c.2381G>A	c.(2380-2382)gGa>gAa	p.G794E	FCRL5_uc001fqu.3_Missense_Mutation_p.G794E	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	794	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGACCTATTTCCTAGGGTGAC	0.587000														97			63		0	0	1	0	0
REPS2	9185	broad.mit.edu	37	X	17072992	17072992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:17072992C>T	uc004cxv.1	+	7	1204	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y	REPS2_uc004cxw.1_Missense_Mutation_p.H344Y|REPS2_uc011miw.1_Missense_Mutation_p.H204Y	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	345	EF-hand.|EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TGCTGCGTTTCATCTCATTGT	0.537000														13			48		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37889885	37889885	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:37889885G>T	uc003tfn.3	+	2	389	c.17G>T	c.(16-18)cGa>cTa	p.R6L		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	6	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGCAAAAAACGAGAAGTCCAG	0.338000														122			45		7.77372e-23	7.92415e-23	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240122	3240122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:3240122G>A	uc004crg.4	-	4	3761	c.3604C>T	c.(3604-3606)Cct>Tct	p.P1202S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1202						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAGCTGTAGGAACCAGAGAA	0.463000														12			53		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76481750	76481750	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76481750C>T	uc010dhp.2	-	46	7490	c.7365G>A	c.(7363-7365)ggG>ggA	p.G2455G		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCCGCGTTCCCCACCAGCA	0.607000														83			35		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14150599	14150600	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:14150599_14150600GG>AA	uc002mxx.3	+	3	834_835	c.411_412GG>AA	c.(409-414)gtggac>gtAAac	p.D138N		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	138	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCCCTGACGTGGACTTTTCCGA	0.604000														74			11		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102057248	102057248	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:102057248G>C	uc001tii.3	+	19	2331	c.2191G>C	c.(2191-2193)Gac>Cac	p.D731H	MYBPC1_uc001tig.3_Missense_Mutation_p.D756H|MYBPC1_uc010svr.2_Missense_Mutation_p.D731H|MYBPC1_uc010svs.2_Missense_Mutation_p.D731H|MYBPC1_uc001tij.3_Missense_Mutation_p.D731H|MYBPC1_uc010svt.2_Missense_Mutation_p.D719H|MYBPC1_uc010svu.2_Missense_Mutation_p.D712H|MYBPC1_uc001tik.3_Missense_Mutation_p.D705H|MYBPC1_uc001tih.3_Missense_Mutation_p.D756H|MYBPC1_uc010svq.2_Missense_Mutation_p.D718H|MYBPC1_uc001til.3_5'Flank	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	731	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CTCTGTCACTGACACGACTGT	0.443000														104			69		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519838	69519838	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69519838C>T	uc021xow.1	-	4	1388	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	410					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGGCTGCTCCCTTGGCTTTCA	0.458000														204			72		0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165950986	165950986	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:165950986A>G	uc002ucx.3	-	25	4926	c.4434T>C	c.(4432-4434)ttT>ttC	p.F1478F	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Silent_p.F1429F|SCN3A_uc002ucz.3_Silent_p.F1429F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1478						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.K1477N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTGACCTCCAAAGTAAAGAC	0.328000														70			51		0	0	1	0	0
PRKY	5616	broad.mit.edu	37	Y	7235403	7235403	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:7235403G>A	uc004fre.3	+	5		c.1163G>A								Homo sapiens protein kinase, Y-linked, pseudogene (PRKY), non-coding RNA.											large_intestine(2)|lung(3)|skin(1)	6						GAAGAACGGGGCGAATGATGT	0.433000														11			16		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900296	36900296	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36900296G>A	uc003apn.4	-	2	1006	c.898C>T	c.(898-900)Ccg>Tcg	p.P300S	FOXRED2_uc003apo.4_Missense_Mutation_p.P300S|FOXRED2_uc003app.4_Missense_Mutation_p.P300S	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	300					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGAATTTCGGGGTGACATGG	0.567000														94			36		0	0	1	0	0
BC024248	0	broad.mit.edu	37	2	78639825	78639825	+	RNA	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:78639825G>C	uc002snv.4	-	2		c.1027C>G								Homo sapiens cytochrome c, somatic pseudogene 6, mRNA (cDNA clone IMAGE:4815768).																		CTGAATTCTGGTGTATGAGAT	0.333000														9			6		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958810	54958810	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:54958810T>C	uc003dhl.3	-	1	574	c.440A>G	c.(439-441)aAc>aGc	p.N147S	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	147						integral to membrane		p.E146D(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TATAGTTAGGTTCTCCCAAGT	0.488000														54			30		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42615888	42615888	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:42615888C>T	uc011dur.2	+	21	2740	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	UBR2_uc011dus.2_Silent_p.I459I|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	814					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.I814I(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGAGTGTAATCGAAGCAGTTG	0.353000														79			40		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871950	51871950	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:51871950G>A	uc002xwo.3	+	1	2840	c.1953G>A	c.(1951-1953)ctG>ctA	p.L651L	TSHZ2_uc021wex.1_Silent_p.L648L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	651					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGGTCCCCTGAAGGAGGAGG	0.582000														47			21		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132101146	132101146	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:132101146T>A	uc003kxr.2	-	1	344	c.106A>T	c.(106-108)Agc>Tgc	p.S36C	SEPT8_uc003kxs.1_Missense_Mutation_p.S36C|SEPT8_uc003kxu.2_Missense_Mutation_p.S36C|SEPT8_uc011cxi.1_Missense_Mutation_p.S36C|SEPT8_uc003kxv.2_Missense_Mutation_p.S36C|SEPT8_uc003kxt.2_5'UTR	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	36					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCGACTTGCTGACCAGCTGG	0.602000														132			24		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933161	32933161	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:32933161A>T	uc003cff.3	+	3	2528	c.2465A>T	c.(2464-2466)gAa>gTa	p.E822V		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	822					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGATGTTTGAATCCAACGGC	0.592000														214			101		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196681	28196681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:28196681G>A	uc009xky.3	-	16	2619	c.2521C>T	c.(2521-2523)Cgt>Tgt	p.R841C	ARMC4_uc010qds.2_Missense_Mutation_p.R366C|ARMC4_uc010qdt.2_Missense_Mutation_p.R533C|ARMC4_uc001itz.3_Missense_Mutation_p.R841C	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	841							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CACAACAAACGAACTCCATCT	0.423000														55			22		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931745	115931745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:115931745C>T	uc004bgs.2	-	25	3397	c.3244G>A	c.(3244-3246)Gaa>Aaa	p.E1082K	FKBP15_uc004bgr.2_Missense_Mutation_p.E519K|FKBP15_uc011lxc.1_Missense_Mutation_p.E663K|FKBP15_uc011lxd.1_Missense_Mutation_p.E1014K	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1082					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGTGCTACTTCCCTGACACAG	0.582000														64			102		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176905426	176905427	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176905426_176905427GT>AA	uc001glc.3	-	14	2669_2670	c.2457_2458AC>TT	c.(2455-2460)aaactc>aaTTtc	p.819_820KL>NF	ASTN1_uc001glb.1_Missense_Mutation_p.819_820KL>NF|ASTN1_uc001gld.1_Missense_Mutation_p.819_820KL>NF|ASTN1_uc009wwx.1_Missense_Mutation_p.819_820KL>NF	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	827					cell migration|neuron cell-cell adhesion	integral to membrane		p.I818L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTTGGTTGAGTTTGATGTGGT	0.525000														68			36		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587294	55587294	+	Silent	SNP	C	T	T	rs145410438		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55587294C>T	uc010rin.2	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63F(2)|p.F62L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCAAC	0.418000														117			60		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41318338	41318338	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41318338T>C	uc003azh.3	+	8	1157	c.1056_splice	c.e8-1	p.R352_splice	XPNPEP3_uc003azi.3_Splice_Site_p.R273_splice|XPNPEP3_uc011aoy.1_Splice_Site	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	352					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CGTCCCCAGGTTCACCGCACC	0.448000														86			54		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156159	146156159	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:146156159A>G	uc003zet.3	-	3	2201	c.2014T>C	c.(2014-2016)Ttg>Ctg	p.L672L	ZNF16_uc003zeu.3_Silent_p.L672L	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TGTTTGATCAACTTTGATCGC	0.527000														216			84		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:45459056C>T	uc001rol.3	-	0		c.139G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AATTGGAGTTCGTTTCCTTCC	0.443000														34			16		0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41654018	41654018	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41654018G>A	uc003azs.3	-	5	2178	c.708C>T	c.(706-708)ccC>ccT	p.P236P	RANGAP1_uc003azt.3_Silent_p.P236P|RANGAP1_uc003azu.3_Silent_p.P236P|RANGAP1_uc011aoz.2_Silent_p.P181P	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	236					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGCAGCAGGGGGTTGACAG	0.627000														67			33		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958878	129958878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:129958878C>T	uc004bqo.2	+	12	1430	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqq.4_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	388					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCTCTGACCTCCTCCTCTGCT	0.602000														39			61		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124361461	124361461	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124361461C>T	uc001lgk.1	+	28	3598	c.3492C>T	c.(3490-3492)ggC>ggT	p.G1164G	DMBT1_uc001lgl.1_Silent_p.G1154G|DMBT1_uc001lgm.1_Silent_p.G665G|DMBT1_uc021qaf.1_Silent_p.G1164G|DMBT1_uc021qag.1_Silent_p.G1154G|DMBT1_uc021qah.1_Silent_p.G665G|DMBT1_uc009xzz.1_Silent_p.G1164G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1164	SRCR 9.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				GGCAGCTGGGCTGTGGCTGGG	0.597000														263			95		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954275	95954275	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95954275C>T	uc002suk.3	+	21	2512	c.2379C>T	c.(2377-2379)atC>atT	p.I793I	PROM2_uc002suh.2_Silent_p.I793I|PROM2_uc002sui.3_Silent_p.I793I|PROM2_uc002suj.3_Silent_p.I447I|PROM2_uc002sul.3_Silent_p.I319I|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	793						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCTTCCTGATCCCCAGCATCA	0.607000														85			40		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601686	61601686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:61601686G>A	uc002jay.3	+	1	343	c.263G>A	c.(262-264)gGg>gAg	p.G88E	KCNH6_uc002jax.1_Missense_Mutation_p.G88E|KCNH6_uc010wpl.2_Intron|KCNH6_uc010wpm.2_Missense_Mutation_p.G88E|KCNH6_uc002jaz.1_Missense_Mutation_p.G88E	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	88					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCCCTGCTGGGGGCTGAGGAG	0.632000														80			29		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139262223	139262223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139262223C>T	uc022bpp.1	-	7	1301	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N	CARD9_uc004chg.3_Missense_Mutation_p.D379N|CARD9_uc022bpo.1_Missense_Mutation_p.D379N|CARD9_uc011mdx.1_Missense_Mutation_p.D275N	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	379					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CGCAGCGCGTCCTTCTCCTGC	0.692000														10			19		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263313	144263313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:144263313C>T	uc003qjv.3	-	2	1906	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PLAGL1_uc003qjx.3_Missense_Mutation_p.E214K|PLAGL1_uc003qjy.3_Missense_Mutation_p.E214K|PLAGL1_uc010khl.3_Missense_Mutation_p.E214K|PLAGL1_uc010khm.3_Missense_Mutation_p.E214K|PLAGL1_uc003qjz.3_Missense_Mutation_p.E214K|PLAGL1_uc003qka.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkb.3_Missense_Mutation_p.E162K|PLAGL1_uc003qkc.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkd.3_Missense_Mutation_p.E162K|PLAGL1_uc003qke.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkf.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkg.3_Missense_Mutation_p.E162K|PLAGL1_uc003qkh.3_Missense_Mutation_p.E214K|PLAGL1_uc003qki.3_Missense_Mutation_p.E162K|PLAGL1_uc003qkj.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkk.3_Missense_Mutation_p.E162K|PLAGL1_uc003qkl.3_Missense_Mutation_p.E162K|PLAGL1_uc003qkm.3_Missense_Mutation_p.E214K|PLAGL1_uc010khn.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkn.3_Missense_Mutation_p.E162K|PLAGL1_uc003qko.3_Missense_Mutation_p.E214K|PLAGL1_uc003qkp.3_Missense_Mutation_p.E162K|PLAGL1_uc003qjw.3_Missense_Mutation_p.E162K|PLAGL1_uc021zgj.1_Missense_Mutation_p.E162K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	214					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		TGCAAGCTCTCTTTCATCAGC	0.547000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			47		0	0	1	0	0
THAP10	56906	broad.mit.edu	37	15	71174914	71174914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:71174914C>T	uc002asv.3	-	2	814	c.653G>A	c.(652-654)aGa>aAa	p.R218K	LRRC49_uc002asu.3_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	Homo sapiens THAP domain containing 10 (THAP10), mRNA.	218							DNA binding|metal ion binding	p.R218R(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AGAGGAAGTTCTAGACCACAA	0.393000														64			35		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20553675	20553675	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:20553675G>A	uc002wrz.3	-	20	2888	c.2745C>T	c.(2743-2745)atC>atT	p.I915I	RALGAPA2_uc002wry.3_Silent_p.I530I|RALGAPA2_uc010zsg.2_Silent_p.I363I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	915					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCCCCCCGGCGATTATACTAC	0.478000														23			17		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6909015	6909015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:6909015G>A	uc002kne.3	+	15	1869	c.1610G>A	c.(1609-1611)gGa>gAa	p.G537E	ARHGAP28_uc010wzi.2_Missense_Mutation_p.G519E	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	519					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GAAATTGGAGGAAATATAGGT	0.259000														55			14		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67701251	67701251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:67701251C>T	uc001stn.2	+	10	3441	c.3004C>T	c.(3004-3006)Cca>Tca	p.P1002S	CAND1_uc001sto.2_Missense_Mutation_p.P512S	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1002					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ACCTATTGATCCACTGTTAAA	0.348000														21			9		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70336414	70336414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:70336414G>A	uc001oqc.3	-	18	2432	c.2320C>T	c.(2320-2322)Cct>Tct	p.P774S	SHANK2_uc010rqn.2_Missense_Mutation_p.P250S|SHANK2_uc001opz.3_Missense_Mutation_p.P245S|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.P242S|SHANK2_uc001opy.3_5'UTR|SHANK2_uc010rqo.1_Missense_Mutation_p.P53S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	461					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTACCTCGAGGGATGCCCAGA	0.567000														53			22		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641336	29641336	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29641336G>A	uc011dlw.2	-	3	703	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	100					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.S184I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AGCGCCTGCTGAAACATTTGC	0.562000														59			35		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631209	91631209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:91631209G>A	uc003ulg.3	+	7	2203	c.1978G>A	c.(1978-1980)Ggc>Agc	p.G660S	AKAP9_uc003ule.2_Missense_Mutation_p.G672S|AKAP9_uc003ulf.3_Missense_Mutation_p.G660S|AKAP9_uc003uli.3_Missense_Mutation_p.G285S	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	672	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAATTTAGGCATTCACTA	0.308000			T	BRAF	papillary thyroid									44			46		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012080	161012080	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161012080C>A	uc003qtl.3	-	23	3803	c.3683G>T	c.(3682-3684)tGt>tTt	p.C1228F		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3736	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CATGGTATAACACCAAGGACT	0.468000														46			12		1.41608e-15	1.43308e-15	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021509	51021509	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51021509G>A	uc002pss.3	-	2	1598	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	487	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCACCGTGGTGAAGTAGGTGT	0.751000														12			5		0	0	1	0	0
ZNF517	340385	broad.mit.edu	37	8	146033325	146033325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:146033325G>A	uc003zed.1	+	4	1131	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	ZNF517_uc010mgd.1_Missense_Mutation_p.E248K|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Missense_Mutation_p.E248K|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCACGCGCAGGAGGGTGCCCA	0.761000														3			4		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851469	34851469	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:34851469C>T	uc003teh.1	+	3	600	c.472C>T	c.(472-474)Caa>Taa	p.Q158*	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Nonsense_Mutation_p.Q158*|NPSR1_uc010kwt.1_Nonsense_Mutation_p.Q5*|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Nonsense_Mutation_p.Q158*|NPSR1_uc010kww.1_Nonsense_Mutation_p.Q147*|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	158						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAAGTTCCTTCAAGGAGGTGA	0.443000														72			46		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172683	91172683	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:91172683T>C	uc002bpp.3	+	10	1291	c.1185T>C	c.(1183-1185)ctT>ctC	p.L395L	CRTC3_uc002bpo.3_Silent_p.L395L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	395					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTCTCACGCTTTCTCCTGGCC	0.577000			T	MAML2	salivary gland mucoepidermoid									152			99		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128218	83128218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:83128218G>A	uc004eei.1	+	3	523	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	CYLC1_uc004eeh.1_Missense_Mutation_p.E167K	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	168					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATCATCACATGAAAATGAACA	0.323000														9			13		0	0	1	0	0
OTOS	150677	broad.mit.edu	37	2	241078632	241078632	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:241078632G>A	uc002vyv.3	-	3	380	c.225C>T	c.(223-225)ccC>ccT	p.P75P	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	75						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGCTCCCCAGGGGGAAGTGGG	0.647000														59			29		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170034445	170034445	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170034445A>T	uc002ues.3	-	52	10474	c.10261T>A	c.(10261-10263)Tat>Aat	p.Y3421N		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3421					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCTGTCCAATAAATAGTGTCT	0.443000														116			66		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41203208	41203208	+	Missense_Mutation	SNP	C	T	T	rs138105385		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41203208C>T	uc003jmk.2	-	1	335	c.125G>A	c.(124-126)gGa>gAa	p.G42E	C6_uc003jml.1_Missense_Mutation_p.G42E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G42E(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCTCTGGGTTCCAGAATTGCA	0.488000														182			29		0	0	1	0	0
CCR8	1237	broad.mit.edu	37	3	39374842	39374842	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39374842C>T	uc010hhr.2	+	1	1158	c.1020C>T	c.(1018-1020)tcC>tcT	p.S340S	CCR8_uc003cjm.2_Silent_p.S257S|CCR8_uc021wwe.1_Silent_p.S340S	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	340					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AGTCATCATCCTGCCAGCAGC	0.408000														38			35		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28962903	28962903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28962903G>A	uc003nlu.2	-	6	2387	c.1876C>T	c.(1876-1878)Ctt>Ttt	p.L626F	ZNF311_uc011dlk.1_Missense_Mutation_p.L534F|ZNF311_uc003nlv.2_Missense_Mutation_p.L534F	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGTCCAGTAAGATTTGAGCTC	0.438000														31			17		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640421	29640421	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:29640421G>A	uc011dlw.2	-	3	1618	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	405					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCATAGTGGGGACATCATGAG	0.567000														44			23		0	0	1	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42392170	42392171	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42392170_42392171GG>AA	uc002igl.4	+	4	800_801	c.526_527GG>AA	c.(526-528)gga>AAa	p.G176K	RUNDC3A_uc002igi.3_Missense_Mutation_p.G176K|RUNDC3A_uc002igj.3_Missense_Mutation_p.G171K	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	176	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AATGCTGATCGGACTGAGCGCC	0.609000														68			27		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36726373	36726373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:36726373C>T	uc022abu.1	-	1	555	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	AOAH_uc003tfh.4_Missense_Mutation_p.E52K|AOAH_uc011kba.2_Intron	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	52	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCAAGCTGTTCTATTACAGAC	0.512000														68			32		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43042351	43042351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:43042351G>A	uc002xma.3	+	3	492	c.403G>A	c.(403-405)Gac>Aac	p.D135N	HNF4A_uc002xlt.3_Missense_Mutation_p.D113N|HNF4A_uc002xlu.3_Missense_Mutation_p.D113N|HNF4A_uc002xlv.3_Missense_Mutation_p.D113N|HNF4A_uc002xly.3_Missense_Mutation_p.D135N|HNF4A_uc010ggq.3_Missense_Mutation_p.D128N|HNF4A_uc002xlz.3_Missense_Mutation_p.D135N	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	135					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAATGAGCGGGACCGGATCAG	0.622000														32			18		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977325	21977325	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21977325G>A	uc003xas.3	-	13	3590	c.2925C>T	c.(2923-2925)ctC>ctT	p.L975L	HR_uc003xat.3_Silent_p.L975L	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	975	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGCCCGGTGGGAGGTAGGAAG	0.627000														62			37		0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2473350	2473350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2473350G>A	uc002wge.1	-	4	787	c.299C>T	c.(298-300)tCa>tTa	p.S100L	ZNF343_uc010gao.1_Missense_Mutation_p.S100L|ZNF343_uc002wgd.1_Missense_Mutation_p.S10L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	100	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTTACCCAATGAGAGAAGATT	0.383000														86			52		0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201352246	201352246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201352246C>T	uc001gwm.3	-	6	1577	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	448						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCGCCAGTTCCTTCTCAAAG	0.592000														127			66		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889360	23889360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23889360G>A	uc001ywj.4	-	0	3634	c.3530C>T	c.(3529-3531)cCc>cTc	p.P1177L		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ATACTCTGCGGGCTCAGTGTA	0.502000														20			17		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47230163	47230163	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:47230163G>A	uc002ion.2	+	4	593	c.534_splice	c.e4-1	p.R178_splice	B4GALNT2_uc010wlt.1_Splice_Site_p.R92_splice|B4GALNT2_uc010wlu.1_Splice_Site_p.R118_splice	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	178					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTCCTGCAGAGAAGGGCTGCC	0.612000														18			8		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45128247	45128247	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:45128247C>T	uc003bfd.3	+	5	808	c.531C>T	c.(529-531)atC>atT	p.I177I	PRR5-ARHGAP8_uc003bew.2_Silent_p.I168I|PRR5-ARHGAP8_uc003bex.2_Silent_p.I82I|PRR5-ARHGAP8_uc010gzt.1_Silent_p.I200I|PRR5-ARHGAP8_uc003bey.1_Silent_p.I168I|PRR5-ARHGAP8_uc003bez.1_Silent_p.I82I|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_Silent_p.I177I|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_Silent_p.I76I	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CCCCTGCCATCGTGCAGATGC	0.667000														34			17		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24451496	24451496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24451496C>T	uc002zzi.1	+	8	1094	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	CABIN1_uc021wnc.1_Nonsense_Mutation_p.Q273*|CABIN1_uc002zzj.1_Nonsense_Mutation_p.Q273*|CABIN1_uc002zzl.2_Nonsense_Mutation_p.Q323*|CABIN1_uc010guk.1_Nonsense_Mutation_p.Q278*|CABIN1_uc002zzk.2_Nonsense_Mutation_p.Q278*	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	323					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.I322I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAACGTGATCCAGCCAAGCAC	0.592000														106			50		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353335	105353335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105353335C>T	uc001yps.3	+	10	2855	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V	KIAA0284_uc010axb.3_Missense_Mutation_p.A850V|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	920						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		ACGGAGACGGCCCTGGCGGCC	0.682000														20			29		0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180477329	180477329	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180477329C>T	uc003mmt.3	+	3	927	c.696C>T	c.(694-696)ctC>ctT	p.L232L	BTNL9_uc011dhi.1_Silent_p.L163L	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	232						integral to membrane		p.N231K(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGAATCTCCTCTTGAGCC	0.532000														48			63		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193173	152193173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152193173C>T	uc001ezt.1	-	2	1008	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	311					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACGTGGCT	0.612000														155			123		0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141328727	141328727	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:141328727G>T	uc010huq.1	+	23	2350	c.2350G>T	c.(2350-2352)Gga>Tga	p.G784*	RASA2_uc003etz.1_Nonsense_Mutation_p.G780*|RASA2_uc003eua.1_Nonsense_Mutation_p.G781*	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	780					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGCTTGTGGAACTATTGC	0.328000														25			41		1.51943e-15	1.53714e-15	1	1	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	A	A	rs145163836		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39218644G>A	uc003awk.3	-	4	1627	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(4)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000														23			11		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138630545	138630545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:138630545G>A	uc004fas.1	+	4	444	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	F9_uc004fat.1_Missense_Mutation_p.G101S	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	139	EGF-like 2.		G -> D (in HEMB; severe).|G -> S (in HEMB).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CATTAAGAATGGCAGATGCGA	0.378000														18			49		0	0	1	0	0
NME9	347736	broad.mit.edu	37	3	138024874	138024874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:138024874C>T	uc003esg.3	-	7	636	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Missense_Mutation_p.R118Q|NME9_uc003ese.1_Missense_Mutation_p.R142Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	203	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GTAGAAAAGTCGCACTTCTGC	0.378000														122			42		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39153581	39153581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:39153581G>A	uc003jls.3	-	1	1328	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	FYB_uc003jlt.3_Missense_Mutation_p.P421S|FYB_uc003jlu.3_Missense_Mutation_p.P421S|FYB_uc011cpl.2_Missense_Mutation_p.P431S	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	421	Interaction with SKAP1.				NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.P420L(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATGTTTCTGGGAGGTAGGCTT	0.493000														103			106		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456010	179456010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179456010C>T	uc021vsy.1	-	252	52963	c.52738G>A	c.(52738-52740)Gaa>Aaa	p.E17580K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11275K|TTN_uc021vta.1_Missense_Mutation_p.E11208K|TTN_uc021vtb.1_Missense_Mutation_p.E11083K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18507	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTGATATTCCCCAGTGTCT	0.428000														230			147		0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220247342	220247342	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220247342C>T	uc001hma.3	-	2	364	c.192G>A	c.(190-192)cgG>cgA	p.R64R	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Silent_p.R9R|BPNT1_uc010puh.2_Silent_p.R64R	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	64					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	p.R64R(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TGGGGAATTTCCGGGCCAATG	0.393000														131			79		0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713876	58713876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:58713876G>A	uc002eod.1	-	2	548	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC38A7_uc002eoc.1_Missense_Mutation_p.S52F|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Missense_Mutation_p.S52F	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	52					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CCCAAGTGTGGAAGTGGTGCC	0.657000														10			10		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38352349	38352349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:38352349C>T	uc003jlc.2	+	4	807	c.461C>T	c.(460-462)tCg>tTg	p.S154L	EGFLAM_uc003jlb.2_Missense_Mutation_p.S154L	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	154	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.S154S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTGTGGTTTCGGATTCTGAG	0.522000														130			14		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095835	83095836	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:83095835_83095836GG>AA	uc003uhy.2	-	3	1039_1040	c.418_419CC>TT	c.(418-420)cca>TTa	p.P140L	SEMA3E_uc022agy.1_Missense_Mutation_p.P80L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	140	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.P140S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GGCACAAACTGGATCAAAAGCT	0.386000														69			27		0	0	1	0	0
GYPE	2996	broad.mit.edu	37	4	144797983	144797983	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144797983C>T	uc003ijj.3	-	2	218	c.162G>A	c.(160-162)gcG>gcA	p.A54A	GYPE_uc003ijk.4_Silent_p.A54A	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.	54						integral to plasma membrane		p.A54V(2)|p.A54T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CACGAGCCATCGCCCACCAAT	0.348000														13			9		0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3562382	3562382	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3562382G>A	uc002cvk.1	+	5	505	c.400_splice	c.e5-1	p.I134_splice	CLUAP1_uc002cvj.1_Splice_Site_p.I134_splice|CLUAP1_uc002cvm.1_Intron	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	134						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TTTCCTTCCAGATTGCAGATT	0.463000														28			34		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78547299	78547299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:78547299G>A	uc004akc.2	+	1	735	c.197G>A	c.(196-198)gGg>gAg	p.G66E	PCSK5_uc004ajy.2_Missense_Mutation_p.G66E|PCSK5_uc004ajz.3_Missense_Mutation_p.G66E|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	66					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTGCAGATAGGGGCCCTGAAG	0.413000														17			30		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311422	124311422	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124311422G>A	uc001uft.4	+	23	4039	c.4014G>A	c.(4012-4014)ttG>ttA	p.L1338L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1338	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCTTGACTTGAAAAACGAGG	0.423000														16			11		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42341668	42341668	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42341668C>T	uc002xlb.1	+	11	1961	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V	MYBL2_uc010zwj.1_Silent_p.V558V	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	582						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCAAGAAAGTCCGGAAGTCTC	0.542000														17			12		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2807934	2807934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2807934C>T	uc002crk.3	+	3	1052	c.503C>T	c.(502-504)cCc>cTc	p.P168L	SRRM2_uc002crj.1_Missense_Mutation_p.P72L|SRRM2_uc002crl.1_Missense_Mutation_p.P168L|SRRM2_uc010bsu.1_Missense_Mutation_p.P72L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	168						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGAGCCTCCCAAACCTTAC	0.478000														60			6		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38829439	38829439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:38829439C>T	uc003tgy.3	-	9	772	c.746G>A	c.(745-747)aGt>aAt	p.S249N	VPS41_uc003tgz.3_Missense_Mutation_p.S224N|VPS41_uc010kxn.3_Missense_Mutation_p.S160N	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	249					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTCATTTCACTGGCATGCCG	0.363000														80			45		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615147	10615147	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:10615147C>T	uc010rcc.1	-	17	2454	c.2068_splice	c.e17-1	p.N690_splice	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Splice_Site_p.N682_splice|MRVI1_uc001miw.2_Splice_Site_p.N681_splice|MRVI1_uc001mix.3_Splice_Site_p.N375_splice|MRVI1_uc001miz.2_Splice_Site_p.N599_splice|MRVI1_uc010rcd.1_Splice_Site_p.N484_splice|MRVI1_uc009ygd.1_Splice_Site_p.N375_splice|MRVI1_uc010rce.1_Splice_Site	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	663					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGGCATATTCTGCAGGAAGA	0.507000														20			10		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876305	35876305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:35876305C>T	uc003jjs.3	+	7	1186	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	366					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGAGATTCATCCCTCACATGC	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							36			27		0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89884766	89884766	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:89884766T>C	uc010lep.3	+	1	401	c.150T>C	c.(148-150)cgT>cgC	p.R50R	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.2_Silent_p.R50R|C7orf63_uc010leo.2_Silent_p.R50R	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	50							binding	p.R50C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACCTTAATCGTGTCATCAAAC	0.333000														115			108		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72057395	72057395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72057395G>A	uc002atb.1	+	14	2705	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	THSD4_uc002ate.2_Missense_Mutation_p.E516K|THSD4_uc002atg.1_Missense_Mutation_p.E79K	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	876	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAACAGAGGGAGGTGATTTG	0.512000														88			40		0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117426628	117426628	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117426628T>C	uc001twg.1	+	6	1275	c.1193T>C	c.(1192-1194)gTt>gCt	p.V398A	FBXW8_uc001twf.1_Missense_Mutation_p.V332A	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	398							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCCAACCAAGTTGCTTTTGGT	0.463000														122			61		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081383	126081384	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126081383_126081384GG>AA	uc001qde.3	-	0	204_205	c.150_151CC>TT	c.(148-153)ctccga>ctTTga	p.R51*	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc009zbz.3_Nonsense_Mutation_p.R51*	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	51					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTCTGGGCTCGGAGCTTCTCCG	0.569000														156			50		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265652	3265652	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:3265652T>A	uc022aqr.1	-	13	2230	c.1840A>T	c.(1840-1842)Att>Ttt	p.I614F	CSMD1_uc011kwj.2_Missense_Mutation_p.I7F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	615	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGAGATAATCAACCAGACA	0.408000														24			19		0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052426	21052426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21052426C>T	uc010ahw.3	-	2	544	c.208G>A	c.(208-210)Gat>Aat	p.D70N	RNASE11_uc010ahv.3_Missense_Mutation_p.D70N|RNASE11_uc010ahx.3_Missense_Mutation_p.D70N|RNASE11_uc001vxs.3_Missense_Mutation_p.D70N|RNASE11_uc021rnu.1_Missense_Mutation_p.D70N	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	70						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GAAGACATATCATCCTTGGAC	0.388000														93			91		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32520652	32520652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32520652C>T	uc001rku.3	+	8	2894	c.2813C>T	c.(2812-2814)gCc>gTc	p.A938V	BICD1_uc001rkv.3_3'UTR|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	938					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCACAACTAGCCGGGAGGCAA	0.512000														56			36		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43649275	43649275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43649275C>T	uc021omk.1	+	3	634	c.488C>T	c.(487-489)cCa>cTa	p.P163L	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.P152L|WDR65_uc001ciq.2_Missense_Mutation_p.P163L|WDR65_uc001cip.2_Missense_Mutation_p.P163L	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	163										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGCTTCAGTCCACAGGATAAC	0.368000														38			17		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80672816	80672816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:80672816G>A	uc001szd.3	+	24	2777	c.2771G>A	c.(2770-2772)cGa>cAa	p.R924Q		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCGTTTGTCGACGAGGAATG	0.358000														121			59		0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430749	43430749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43430749C>T	uc002ovl.4	-	4	928	c.826G>A	c.(826-828)Ggt>Agt	p.G276S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.G155S	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	277	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				AGGCTCTGACCATTTAGCCAC	0.468000														298			91		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020830	5020830	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5020830T>C	uc010qyu.2	+	0	618	c.618T>C	c.(616-618)atT>atC	p.I206I		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTAGTCATTGCCACACTAG	0.433000														49			10		0	0	1	0	0
TMEM170B	100113407	broad.mit.edu	37	6	11566004	11566004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:11566004G>A	uc010jpa.3	+	1	203	c.203G>A	c.(202-204)aGa>aAa	p.R68K		NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN	Homo sapiens transmembrane protein 170B (TMEM170B), mRNA.	68						integral to membrane				large_intestine(3)|lung(5)	8						AGGCAGGGAAGAGTCATCTCT	0.458000														140			74		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737609	4737609	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4737609T>A	uc001qnb.4	-	3	703	c.459A>T	c.(457-459)aaA>aaT	p.K153N		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	153					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATAGACACATTTGTTTTCAG	0.453000														127			75		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773514	137773515	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:137773514_137773515GG>AA	uc003vtz.3	+	2	348	c.261_splice	c.e2+1	p.K87_splice	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Splice_Site_p.K87_splice|AKR1D1_uc011kqc.1_Splice_Site|AKR1D1_uc011kqf.2_Splice_Site_p.K87_splice|AKR1D1_uc011kqe.1_Splice_Site_p.K87_splice|RN7SK_uc022amj.1_5'Flank|AKR1D1_uc010lmy.1_5'Flank	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	87					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTGTGGAAAGGTGAGATCTTG	0.465000														6			8		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166976365	166976365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:166976365G>A	uc003irh.2	+	12	2309	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TLL1_uc011cjn.2_Missense_Mutation_p.M577I|TLL1_uc011cjo.2_Missense_Mutation_p.M378I	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	554	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTTGTGGATGAAGTTTGTTT	0.358000														63			15		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928557	15928557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:15928557C>T	uc003jfn.1	+	2	1167	c.686C>T	c.(685-687)gCc>gTc	p.A229V		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	229					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAACGAGGCCGTCTTTGAT	0.577000														49			32		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5948085	5948085	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5948085C>T	uc002wmk.3	+	8	1256	c.879C>T	c.(877-879)atC>atT	p.I293I	MCM8_uc002wmi.3_Silent_p.I293I|MCM8_uc002wmj.3_Silent_p.I293I|MCM8_uc002wml.3_Silent_p.I293I|MCM8_uc010gbp.3_Silent_p.I293I	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	293					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTTTAGAATCCAGGAATTGA	0.388000														39			31		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28763257	28763257	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28763257C>T	uc002rmb.2	+	11	767	c.723C>T	c.(721-723)tgC>tgT	p.C241C	PLB1_uc010ezj.2_Silent_p.C252C	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	241	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGTAATTGCTCAGAGGAGA	0.622000														30			24		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857019	210857019	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210857019C>T	uc001hib.2	-	10	2744	c.2574G>A	c.(2572-2574)tcG>tcA	p.S858S	KCNH1_uc001hic.2_Silent_p.S831S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	858					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGTCTCCATCGACTCAGCCT	0.592000														98			38		0	0	1	0	0
PRODH2	58510	broad.mit.edu	37	19	36291082	36291082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36291082G>A	uc002obx.1	-	10	1487	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	AK055260_uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	490					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTCCAAGGAGCCATAGGG	0.552000														7			3		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415346	210415346	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210415346T>C	uc001hhy.3	+	3	914	c.735T>C	c.(733-735)gaT>gaC	p.D245D	SERTAD4_uc009xcw.3_Silent_p.D245D	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	245							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GCCAGGTGGATTTTGATGTAG	0.498000														22			16		0	0	1	0	0
FBXO36	130888	broad.mit.edu	37	2	230861589	230861589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:230861589G>A	uc010fxi.1	+	2	351	c.328G>A	c.(328-330)Gat>Aat	p.D110N	FBXO36_uc002vqa.3_Missense_Mutation_p.D110N|FBXO36_uc002vqb.3_Missense_Mutation_p.D79N	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	110	F-box.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTCTTATCTGGATCTTGAAGA	0.353000														108			65		0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29542631	29542631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29542631G>A	uc001brq.1	-	2	328	c.292C>T	c.(292-294)Cct>Tct	p.P98S	MECR_uc001brp.1_Missense_Mutation_p.P22S|MECR_uc001brt.1_Missense_Mutation_p.P22S|MECR_uc010ofz.1_Missense_Mutation_p.P98S	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GGCAGTTCAGGAAGGAATCCG	0.552000														89			31		0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104206791	104206791	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:104206791G>A	uc001yof.1	-	11	2245	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Silent_p.P521P	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	654	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CGGGGGCGGCGGGGCCATCCT	0.647000														52			70		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94514481	94514481	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:94514481T>A	uc001dqh.3	-	17	2790	c.2686A>T	c.(2686-2688)Aag>Tag	p.K896*	ABCA4_uc010otn.1_Nonsense_Mutation_p.K822*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	896					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGCTCGGTCTTTTCCAGGGCT	0.522000														56			22		0	0	1	0	0
AK302238	0	broad.mit.edu	37	15	29092295	29092295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:29092295C>T	uc010uar.1	-	1	221	c.92G>A	c.(91-93)gGa>gAa	p.G31E	LOC646278_uc021sgt.1_Intron					SubName: Full=cDNA FLJ59069, weakly similar to Golgin subfamily A member 6;																		GTCGGTTGCTCCGGTACCAAC	0.493000														15			5		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121624121	121624121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:121624121C>T	uc003vjy.3	+	7	1273	c.878C>T	c.(877-879)tCt>tTt	p.S293F	PTPRZ1_uc011knt.2_Missense_Mutation_p.S293F|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S293F	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	293	Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TACAAGTTCTCTAGACAGGTG	0.353000														69			65		0	0	1	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114824	124114825	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:124114824_124114825GG>AA	uc001ufm.3	-	3	479_480	c.260_261CC>TT	c.(259-261)tcc>tTT	p.S87F	EIF2B1_uc010tat.2_Missense_Mutation_p.S87F	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	87					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTTTACATTTGGAGTAATCCTA	0.406000														95			47		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234148	84234148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:84234148G>A	uc003pjz.3	+	1	1228	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	PRSS35_uc010kbm.3_Missense_Mutation_p.E330K|PRSS35_uc021zce.1_Missense_Mutation_p.E330K	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	330	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.E330K(2)|p.D329D(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TGTGTCCGACGAATCCAATGA	0.478000														93			37		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10721542	10721542	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:10721542G>C	uc002czz.1	-	6	1428	c.1356C>G	c.(1354-1356)caC>caG	p.H452Q		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	452					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGGCGAGCTCGTGCTCCAGCC	0.632000														43			39		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6219501	6219501	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6219501G>A	uc001amb.2	-	2	393	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	94	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ttttattcGGGGAGTAGTCAC	0.448000														7			4		0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563864	228563864	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228563864G>A	uc002vpi.3	-	2	656	c.567C>T	c.(565-567)ttC>ttT	p.F189F	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Silent_p.F185F	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	189					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCATTGGTAGGAAAAGTGAGA	0.443000														40			23		0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45371801	45371801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:45371801G>A	uc002lcy.3	-	9	1438	c.1190C>T	c.(1189-1191)tCt>tTt	p.S397F	SMAD2_uc002lcz.3_Missense_Mutation_p.S397F|SMAD2_uc010xdc.2_Missense_Mutation_p.S367F|SMAD2_uc010xdd.1_Missense_Mutation_p.S367F	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	397	MH2.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTGATTAACAGACTGAGCCAG	0.378000														73			53		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320150	79320150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79320150G>A	uc010mpk.3	-	7	7164	c.7040C>T	c.(7039-7041)gCc>gTc	p.A2347V	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.A2169V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2347					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCCCACGAGGCTTCAGATGA	0.463000														51			95		0	0	1	0	0
MST4	51765	broad.mit.edu	37	X	131202291	131202291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:131202291G>A	uc004ewk.1	+	4	680	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MST4_uc004ewl.1_Missense_Mutation_p.E50K|MST4_uc011mux.1_Missense_Mutation_p.E149K|MST4_uc010nrj.1_Missense_Mutation_p.E127K|MST4_uc004ewm.1_Missense_Mutation_p.E127K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	127	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CATGCTAAAGGAAATTTTAAA	0.358000														19			40		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8610545	8610545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8610545C>T	uc002mkg.3	-	12	1483	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	449	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCTTGTTTTCGATGAGGTCA	0.572000														197			189		0	0	1	0	0
GNB1L	54584	broad.mit.edu	37	22	19776432	19776432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:19776432G>A	uc002zqf.1	-	7	1021	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	262					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CGATCTGGCCGGATCGTGACC	0.632000														68			40		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406959	105406959	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105406959A>G	uc010axc.1	-	6	14949	c.14829T>C	c.(14827-14829)gaT>gaC	p.D4943D	AHNAK2_uc021sen.1_Silent_p.D340D|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4843D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4943						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGTGGTCAGCATCTTCAGAAG	0.552000														25			5		0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66241232	66241232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66241232C>T	uc001oic.4	+	6	840	c.676C>T	c.(676-678)Cca>Tca	p.P226S	PELI3_uc021qlx.1_Missense_Mutation_p.P202S|PELI3_uc001oib.2_Missense_Mutation_p.P226S|PELI3_uc001oid.4_Missense_Mutation_p.P202S|PELI3_uc021qly.1_Missense_Mutation_p.P119S	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	226						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ATGGCGGACCCCAGATGGCCT	0.667000														48			13		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154291	5154291	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:5154291C>T	uc001qni.3	+	0	1207	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	326						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCTTCTTCATCGTGGAGACCA	0.672000														117			50		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39227957	39227957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39227957C>T	uc002ojd.1	-	9	1510	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank	NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	401	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGGCCCTTCCTCATCCTCG	0.642000														5			8		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100990250	100990250	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100990250C>T	uc003yjb.1	-	22	3609	c.3414G>A	c.(3412-3414)agG>agA	p.R1138R	RGS22_uc003yja.1_Silent_p.R957R|RGS22_uc003yjc.1_Silent_p.R1126R|RGS22_uc022azf.1_Silent_p.R527R	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1138	RGS 2.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTAAATTCTTCCTAAACTCAC	0.299000														27			14		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942874	112942874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:112942874C>T	uc002tho.1	+	6	1176	c.905C>T	c.(904-906)cCc>cTc	p.P302L	FBLN7_uc010fki.1_Missense_Mutation_p.P256L|FBLN7_uc010fkj.1_Missense_Mutation_p.P168L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	302	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCTGAGTGCCCCGAGGGCAGC	0.617000														66			20		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132398374	132398374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:132398374C>T	uc001uje.3	+	14	1508	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	414	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCCCCCAGTCCCTCAGGGTA	0.692000														39			17		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145851121	145851121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:145851121C>T	uc003lob.3	+	8	1623	c.1583C>T	c.(1582-1584)cCt>cTt	p.P528L	TCERG1_uc003loc.3_Missense_Mutation_p.P507L|TCERG1_uc011dbt.2_Missense_Mutation_p.P507L	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	528	WW 3.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTACTGCTCCTATTCCTGGT	0.428000														57			4		0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472946	52472946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52472946G>A	uc003dea.1	-	12	1499	c.1499C>T	c.(1498-1500)tCt>tTt	p.S500F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	500	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCTTTTGACAGAGATCTCCAT	0.622000														162			82		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628901	3628901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3628901G>A	uc002fwp.3	+	0	1705	c.1672G>A	c.(1672-1674)Ggg>Agg	p.G558R	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	558	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										AGGCTTTATCGGGCTGAACTC	0.502000														23			39		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112673321	112673321	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112673321A>T	uc021reb.1	-	35	5706	c.5310T>A	c.(5308-5310)gaT>gaA	p.D1770E		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GAACCACATAATCTGCCAGCT	0.557000														41			35		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784663	143784663	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143784663G>A	uc011ljv.2	+	2	789	c.372G>A	c.(370-372)gaG>gaA	p.E124E	LOC100288181_uc022bcf.1_Non-coding_Transcript|LY6K_uc011ljw.2_3'UTR|LY6K_uc011ljx.2_3'UTR	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	124	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAATTTAGAGGGGCCACCTA	0.532000														71			64		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408224	2408225	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:2408224_2408225GG>AA	uc022brx.1	-	0	536_537	c.536_537CC>TT	c.(535-537)gcc>gTT	p.A179V	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.A179V|ZBED1_uc004cqg.2_Missense_Mutation_p.A179V|ZBED1_uc022brw.1_Missense_Mutation_p.A179V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	179						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.A179A(2)|p.G178W(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTCCCGGACGGCCCCGTACTT	0.629000														121			120		0	0	1	0	0
FBXL6	26233	broad.mit.edu	37	8	145580011	145580011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145580011G>A	uc003zcb.3	-	6	1250	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.R119C|FBXL6_uc003zca.3_Missense_Mutation_p.R386C|FBXL6_uc010mfx.3_Missense_Mutation_p.R153C|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	392					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GCACAGCCACGAAGATCCAGT	0.657000														66			25		0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40268836	40268836	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:40268836C>T	uc001uxh.2	+	11	1240	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	COG6_uc001uxi.2_Silent_p.L328L|COG6_uc010acb.2_Silent_p.L380L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	380					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTTCTAATCTCCTCAAATTTT	0.313000														22			28		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896136	12896136	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:12896136C>T	uc002gnz.4	-	23	2597	c.2480G>A	c.(2479-2481)tGa>tAa	p.*827*	ELAC2_uc002gnu.4_Silent_p.*224*|ELAC2_uc002gnv.4_Silent_p.*455*|ELAC2_uc002gnx.4_Silent_p.*587*|ELAC2_uc010vvo.2_Silent_p.*625*|ELAC2_uc010vvp.2_Silent_p.*808*|ELAC2_uc010vvq.2_Silent_p.*826*|ELAC2_uc010vvr.2_Silent_p.*787*	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	0					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCCAGATCTTCACTGGGCTCT	0.627000														15			19		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196602738C>T	uc002utj.4	-	64	12083	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_uc002uti.4_Silent_p.T477T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3994					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACAAAATTCGTGGAATGGC	0.453000														52			36		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11311656	11311656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11311656C>T	uc002mqs.4	-	44	5802	c.5761G>A	c.(5761-5763)Gag>Aag	p.E1921K	DOCK6_uc002mqr.4_Missense_Mutation_p.E321K|DOCK6_uc010xlq.2_Missense_Mutation_p.E1260K	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1921	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTCCTGCTCGGTGGCAAAG	0.617000														22			29		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714946	55714946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55714946C>T	uc010spi.2	+	0	563	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTGCTTGTTCAGACACAAAA	0.353000														49			35		0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58390196	58390196	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:58390196C>T	uc002rzx.4	-	9	871	c.804G>A	c.(802-804)ctG>ctA	p.L268L	FANCL_uc002rzw.4_Silent_p.L263L|FANCL_uc010fce.3_Silent_p.L235L|FANCL_uc010fcf.1_Silent_p.L204L	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.	263					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						GCTTAATTCCCAGGGGTTTTA	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					39			25		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121868128	121868129	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:121868128_121868129CC>TT	uc001uat.3	-	22	4077_4078	c.3973_3974GG>AA	c.(3973-3975)ggg>AAg	p.G1325K	KDM2B_uc010szy.2_Missense_Mutation_p.G765K|KDM2B_uc001uaq.3_Missense_Mutation_p.G765K|KDM2B_uc001uar.3_Missense_Mutation_p.G916K|KDM2B_uc001uas.3_Intron|KDM2B_uc021rfd.1_Intron|KDM2B_uc001uau.3_3'UTR|KDM2B_uc021rfe.1_Missense_Mutation_p.G1325K|KDM2B_uc001uao.3_Missense_Mutation_p.G573K|KDM2B_uc010szx.2_Missense_Mutation_p.G573K|KDM2B_uc001uap.3_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1325					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCTACTTGCCCAAACTGGACA	0.465000														107			33		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581227	82581227	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82581227A>T	uc003uhx.2	-	4	9331	c.9042T>A	c.(9040-9042)gaT>gaA	p.D3014E	PCLO_uc003uhv.2_Missense_Mutation_p.D3014E|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2945					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCAGAATAATCAAAAGCAT	0.393000														76			33		0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111661467	111661467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111661467G>A	uc001ead.4	-	7	910	c.653C>T	c.(652-654)tCc>tTc	p.S218F	DRAM2_uc001eae.4_Missense_Mutation_p.S218F|DRAM2_uc009wfy.3_Non-coding_Transcript	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	218					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						ACCAAAGAAGGAAAATGACAT	0.363000														32			7		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12708132	12708132	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:12708132T>C	uc003zkv.4	+	6	1575	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	466					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.E465K(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACTTATGAAATTCAATGGCCA	0.388000									Oculocutaneous Albinism					31			34		0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53470949	53470949	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53470949G>A	uc001sbt.2	-	1	207	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	40	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCTGATATCGGAAAGCTCGGA	0.473000														78			45		0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160553263	160553263	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160553263G>A	uc003qtc.3	+	3	621	c.516_splice	c.e3-1	p.R172_splice	SLC22A1_uc003qtd.3_Splice_Site_p.R172_splice	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	172						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCTCTCTGAAGGTTTGGCCGT	0.587000														212			117		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700579	7700579	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:7700579G>A	uc001aoi.3	+	6	837	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGAAATGGACGAAAGAAGAGC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									66			56		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089166	220089166	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:220089166G>A	uc002vke.1	-	7	1113	c.927C>T	c.(925-927)atC>atT	p.I309I	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.I309I	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	309					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCATAGAGGATTTGCCATA	0.622000														22			11		0	0	1	0	0
DEFB125	245938	broad.mit.edu	37	20	76958	76958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:76958C>T	uc002wcw.3	+	1	371	c.371C>T	c.(370-372)cCa>cTa	p.P124L		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	124					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTATGCCACCATCTGAGGCC	0.443000														203			113		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2413241	2413241	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2413241C>T	uc002wfy.1	+	12	2134	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	TGM6_uc010gal.1_3'UTR	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	691					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCCCTCACTTCCCGGACATCA	0.592000														143			62		0	0	1	0	0
TMEM69	51249	broad.mit.edu	37	1	46158923	46158923	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:46158923T>A	uc001cor.1	+	2	286	c.90T>A	c.(88-90)gaT>gaA	p.D30E		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	Homo sapiens transmembrane protein 69 (TMEM69), mRNA.	30						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					GCAGAACAGATATACTTTCTC	0.378000														199			134		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77134244	77134244	+	Missense_Mutation	SNP	G	A	A	rs75375920	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:77134244G>A	uc002bby.3	-	3	283	c.224C>T	c.(223-225)tCg>tTg	p.S75L	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_5'UTR|SCAPER_uc002bca.1_5'UTR|SCAPER_uc002bcb.1_Missense_Mutation_p.S75L|SCAPER_uc002bcc.1_Missense_Mutation_p.S75L	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	74						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGTCGTAGACGATGTTATTTT	0.353000														47			26		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11775492	11775492	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11775492C>T	uc002rbk.1	+	29	5607	c.5307C>T	c.(5305-5307)atC>atT	p.I1769I	GREB1_uc002rbp.1_Silent_p.I767I	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1769						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGCAGATCGTGGTGGGCG	0.627000														65			23		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79595668	79595668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:79595668C>T	uc001jzk.3	-	7	1520	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M	DLG5_uc001jzj.3_Missense_Mutation_p.V239M|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.V88M	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	484					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.T483K(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCCATTGTCACCGTGTCTTTG	0.602000														54			27		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432466	26432467	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:26432466_26432467GG>AA	uc001isn.2	+	20	2712_2713	c.2352_2353GG>AA	c.(2350-2355)atgggt>atAAgt	p.784_785MG>IS	MYO3A_uc009xko.1_Missense_Mutation_p.784_785MG>IS|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	784	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAAAGCCAATGGGTTTACTTTC	0.391000														42			11		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117679003	117679003	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117679003G>T	uc003pxp.1	-	23	4017	c.3818C>A	c.(3817-3819)tCa>tAa	p.S1273*	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1273					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTATTGTTGAATTCCTATT	0.284000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									24			22		7.87624e-14	7.95716e-14	1	1	0
CEP350	9857	broad.mit.edu	37	1	179983358	179983358	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:179983358C>T	uc001gnt.3	+	9	2153	c.1770C>T	c.(1768-1770)caC>caT	p.H590H	CEP350_uc009wxl.2_Silent_p.H589H|CEP350_uc001gnu.3_Silent_p.H424H	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	590						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAGGCGCCACTATGACACAG	0.448000														12			6		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236817381	236817381	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:236817381G>A	uc002vvs.3	+	11	1754	c.1156_splice	c.e11-1	p.D386_splice	AGAP1_uc002vvt.3_Splice_Site_p.D386_splice	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	386	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTTCAACAGGATTACATGC	0.428000														41			8		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183683202	183683202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:183683202C>T	uc003fmg.3	-	12	2086	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N	ABCC5_uc011bqt.2_Missense_Mutation_p.D169N|ABCC5_uc010hxl.3_Missense_Mutation_p.D641N	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	641	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGATGTTGTCTCTCAGAGTA	0.507000														33			85		0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126080839	126080839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126080839G>A	uc001qde.3	-	1	355	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc009zbz.3_Missense_Mutation_p.H101Y	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	101					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTGTCCTGGTGGAGAATTCCT	0.567000														89			41		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113293480	113293480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:113293480C>T	uc003ynu.3	-	58	9590	c.9431G>A	c.(9430-9432)gGa>gAa	p.G3144E	CSMD3_uc003yns.3_Missense_Mutation_p.G2346E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3104E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2975E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3144	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGGATGTATCCCTCCATGCA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			60		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138444	126138444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:126138444G>A	uc001uhe.1	+	8	2433	c.2425G>A	c.(2425-2427)Gaa>Aaa	p.E809K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E321K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	809						integral to membrane		p.E809V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CATAAATCGGGAATATAAAGA	0.488000														56			29		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114793396	114793396	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:114793396C>A	uc001vui.3	-	5	588	c.457G>T	c.(457-459)Gag>Tag	p.E153*	RASA3_uc010tkk.2_Nonsense_Mutation_p.E121*|RASA3_uc001vuj.3_5'UTR|RASA3_uc010tkl.1_Non-coding_Transcript|RASA3_uc010aha.1_Non-coding_Transcript	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	153	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCCTGGCACTCGACGATGCTG	0.627000														19			25		9.22233e-05	9.26315e-05	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47408880	47408880	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:47408880G>A	uc003gxh.3	+	7	1391	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	GABRB1_uc011bze.2_Silent_p.K269K	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	339					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCAGAAAAAGGGAGCTAGCA	0.373000														32			23		0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187891	12187891	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12187891T>C	uc002mtb.2	+	3	2099	c.1956T>C	c.(1954-1956)gtT>gtC	p.V652V	ZNF844_uc010dym.1_Silent_p.V495V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AGCATTCAGTTTGCCTGGTTC	0.413000														13			2		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47767640	47767641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47767640_47767641GG>AA	uc009ylv.3	-	6	1365_1366	c.1212_1213CC>TT	c.(1210-1215)accctt>acTTtt	p.L405F	FNBP4_uc001ngj.3_Missense_Mutation_p.L312F|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	405										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCCAGTTCAAGGGTATCTTGTT	0.396000														82			31		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321508	79321508	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79321508G>A	uc010mpk.3	-	7	5806	c.5682C>T	c.(5680-5682)ccC>ccT	p.P1894P	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.P1716P	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1894					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCCAGAAAGGGTGACTGAT	0.473000														7			17		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302320	209302320	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:209302320G>A	uc010zjb.2	+	2	556	c.270G>A	c.(268-270)ggG>ggA	p.G90G	PTH2R_uc002vdb.3_Silent_p.G79G	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	79						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GAACAGTGGGGAAAATATCGG	0.313000														45			27		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16641421	16641421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:16641421G>A	uc002nei.1	-	6	925	c.851C>T	c.(850-852)cCa>cTa	p.P284L	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	284	CID.|Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCCCAGGGCTGGGCTCTGTAG	0.632000														200			16		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234835194	234835194	+	Silent	SNP	G	A	A	rs149800225	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234835194G>A	uc002vvh.3	+	1	52	c.12G>A	c.(10-12)cgG>cgA	p.R4R	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	4						integral to membrane		p.F3F(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGTCCTTTCGGGCAGCCAGGC	0.527000														71			37		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17500139	17500139	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:17500139G>A	uc003wxr.3	+	6	1402	c.957G>A	c.(955-957)acG>acA	p.T319T		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	319	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGCCTGTGACGATCCAAGACA	0.498000														32			20		0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	C	C	rs141357429	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(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)			ACTGGACGCAGGcagcagcag	0.657000														33			4		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1496882	1496882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:1496882G>A	uc003wpl.3	+	1	120	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	DLGAP2_uc003wpm.3_Missense_Mutation_p.R8Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	87					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TCCGGAAGTCGGACCCAGCCG	0.697000														8			16		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477466	110477466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110477466C>T	uc003yne.3	+	48	8509	c.8405C>T	c.(8404-8406)tCa>tTa	p.S2802L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2802					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTTGATGGCTCACTTACAGGT	0.378000										HNSCC(38;0.096)				25			15		0	0	1	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950226	201950226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:201950226C>T	uc002uwx.4	+	2	508	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_002491	NP_002482	O43676	NDUB3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa (NDUFB3), nuclear gene encoding mitochondrial protein, mRNA.	62					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.V61A(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	AAGAGTGTTTCCTTTTCTGAT	0.353000														37			24		0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516989	192516989	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:192516989G>A	uc011bsp.2	-	1	983	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	221										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CAGAATGATGGAGATGATGGT	0.468000														56			30		0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113835141	113835142	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113835141_113835142CC>TT	uc001tvg.3	-	5	603_604	c.481_482GG>AA	c.(481-483)ggg>AAg	p.G161K	SDS_uc001tvh.1_Missense_Mutation_p.G161K	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	161					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CGCGATGGCCCCCGGCTTTTCC	0.673000														89			40		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57761217	57761217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57761217G>A	uc002emi.3	+	14	2181	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	CCDC135_uc002emj.3_Missense_Mutation_p.E698K|CCDC135_uc002emk.3_Missense_Mutation_p.E633K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	698						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TCAGGTGCTGGAGATTCTGAA	0.547000														107			28		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099900	142099900	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142099900G>A	uc003vyz.1	-	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Intron					SubName: Full=Uncharacterized protein;																		CTGTCCCTAGGAAACCCAGGA	0.522000														129			39		0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47042306	47042306	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47042306C>T	uc001cqb.3	-	4	499	c.255G>A	c.(253-255)ggG>ggA	p.G85G	MKNK1_uc010omd.2_Missense_Mutation_p.G15D|MKNK1_uc001cqc.3_Silent_p.G85G|MKNK1_uc009vyi.3_Silent_p.G85G|MKNK1_uc010ome.2_Missense_Mutation_p.G15D|MKNK1_uc009vyj.3_Silent_p.G30G|MKNK1_uc001cqd.2_Silent_p.G73G|MKNK1_uc010omf.1_Silent_p.G85G	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	85	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCGACTGTGCCCTGCTTGTT	0.517000														108			22		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76342465	76342465	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76342465T>G	uc003ket.3	+	5	1546	c.1164T>G	c.(1162-1164)agT>agG	p.S388R		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	388					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CCATTACCAGTGAAGGCAATG	0.373000														98			15		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390564	158390564	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158390564G>A	uc010pii.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAGGAGCAGGAAGATAACAA	0.527000														82			50		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559987	210559987	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:210559987C>T	uc002vde.1	+	6	3341	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S	MAP2_uc002vdc.1_Silent_p.S1031S|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.S1027S	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1031					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TAGAACCATCCAAAAAGGTGG	0.428000														83			42		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35749387	35749387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:35749387C>T	uc010zvu.2	-	16	2120	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	C20orf132_uc002xgk.3_Missense_Mutation_p.E309K	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				ATGTTGAATTCCTGCAAGCAG	0.463000														25			10		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:75036823G>A	uc001dgg.3	-	13	4790	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1524										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGTTGGGGGAAACATCTGC	0.512000														136			28		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30020339	30020339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30020339C>T	uc002dvn.3	-	4	696	c.505G>A	c.(505-507)Gac>Aac	p.D169N	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_Missense_Mutation_p.D169N|DOC2A_uc002dvp.3_Missense_Mutation_p.D169N|DOC2A_uc002dvq.3_Missense_Mutation_p.D169N	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	169	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGCGTGATGTCGTCATCTGTG	0.557000														81			16		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672877	151672877	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:151672877A>G	uc011eep.2	+	3	3591	c.3351A>G	c.(3349-3351)ccA>ccG	p.P1117P	AKAP12_uc003qoe.3_Silent_p.P1117P|AKAP12_uc003qof.3_Silent_p.P1019P|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.P1012P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1117					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGACCACCCCAGAAAGCTTTG	0.488000														32			16		0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45185854	45185854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45185854C>T	uc002ozo.4	+	6	1288	c.808C>T	c.(808-810)Cca>Tca	p.P270S	CEACAM19_uc002ozp.4_Missense_Mutation_p.P270S	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	270						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GCCCACACCCCCACACCTGCA	0.647000														5			5		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113532914	113532914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113532914G>A	uc001tuk.1	+	6	1790	c.1454G>A	c.(1453-1455)gGg>gAg	p.G485E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	485					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CAGCCGCCTGGGAAGATGGAG	0.647000														79			42		0	0	1	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183082	102183082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:102183082G>A	uc003dvt.1	+	6	896	c.796G>A	c.(796-798)Gat>Aat	p.D266N	ZPLD1_uc003dvs.1_Missense_Mutation_p.D250N|ZPLD1_uc011bhg.1_Missense_Mutation_p.D250N	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	250	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CATTCGATATGATCTTTTCCT	0.318000														74			35		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55798066C>T	uc010riw.2	+	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTTCAAATTCCCATGTATTA	0.338000														24			11		0	0	1	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328916	6328916	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:6328916G>A	uc003zjw.3	+	0	568	c.321G>A	c.(319-321)agG>agA	p.R107R	TPD52L3_uc003zjv.3_Silent_p.R107R|TPD52L3_uc003zjx.2_Silent_p.R107R	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	107							protein binding	p.C106F(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCATCTGCAGGAAGCTTGGAG	0.507000														87			39		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40398498	40398498	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:40398498A>G	uc002omp.4	-	13	6477	c.6469T>C	c.(6469-6471)Ttc>Ctc	p.F2157L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2157	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)			AGAGTGACGAACACGCCGTCC	0.632000														36			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794139	13794139	+	Missense_Mutation	SNP	C	T	T	rs140968268		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13794139C>T	uc003jfd.2	-	47	7958	c.7916G>A	c.(7915-7917)cGa>cAa	p.R2639Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTACCCATTCGTTTATCCAC	0.368000									Kartagener syndrome					27			30		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60779115	60779115	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60779115C>T	uc010dds.3	-	11	2775	c.2490G>A	c.(2488-2490)tcG>tcA	p.S830S	MARCH10_uc010ddr.3_Silent_p.S792S|MARCH10_uc002jag.4_Silent_p.S792S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	792							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCCCAACTCCGAATCTGGAA	0.587000														168			64		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63476994	63476994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:63476994G>A	uc002lkb.3	+	2	691	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	CDH7_uc002ljz.3_Missense_Mutation_p.E89K|CDH7_uc002lka.3_Missense_Mutation_p.E89K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	89	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTGTCAGGCGAAGGGGCAAG	0.443000														76			26		0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154932194	154932194	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:154932194G>A	uc001fft.3	-	2	488	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	94	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACTGCCAAGGAATGGAGGGG	0.642000														24			21		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54299120	54299120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54299120C>T	uc002qcj.4	-	8	3314	c.3094G>A	c.(3094-3096)Gtc>Atc	p.V1032I	NLRP12_uc010eqw.3_Missense_Mutation_p.V257I|NLRP12_uc002qch.4_Missense_Mutation_p.V1031I|NLRP12_uc002qci.4_Missense_Mutation_p.V974I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	1031					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACCAGAGGACTCGGAGTTTG	0.552000														24			11		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456398	27456399	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:27456398_27456399CC>TT	uc002rji.3	+	19	3372_3373	c.3210_3211CC>TT	c.(3208-3213)gacctc>gaTTtc	p.L1071F	CAD_uc010eyw.3_Missense_Mutation_p.L1008F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1071	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGCTCAGTGACCTCGAGGTGGG	0.579000														33			18		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762918	141762918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141762918C>T	uc002tvj.1	-	14	3461	c.2489G>A	c.(2488-2490)gGg>gAg	p.G830E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	830	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAAGTTGTCCCATTTTCATC	0.418000										TSP Lung(27;0.18)				36			21		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72959173	72959173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72959173C>T	uc002jmj.4	-	3	540	c.391G>A	c.(391-393)Gga>Aga	p.G131R	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Splice_Site_p.G130_splice	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	131						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TCCTCTTCTCCCTGCTGGGGA	0.657000														11			8		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857613	76857613	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:76857613C>T	uc001jwr.3	-	1	93	c.30G>A	c.(28-30)cgG>cgA	p.R10R	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.R103R|DUSP13_uc001jww.3_Silent_p.R60R|DUSP13_uc009xrs.3_Silent_p.R103R|DUSP13_uc001jwt.3_Silent_p.R103R|DUSP13_uc001jwv.3_Silent_p.R10R	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCTTGGGCCTCCGGAGGTCCT	0.637000														31			18		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108276579	108276579	+	Splice_Site	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:108276579C>G	uc003ymn.3	-	8	1674	c.1206_splice	c.e8-1	p.R402_splice	ANGPT1_uc011lhv.2_Splice_Site_p.R202_splice|ANGPT1_uc003ymo.3_Splice_Site_p.R401_splice	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	402	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTAAATACAACCTGAAGTCAA	0.383000														37			25		0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089921	31089921	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:31089921C>T	uc004dcl.1	-	0	250	c.150G>A	c.(148-150)gaG>gaA	p.E50E		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	50	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGAAGAAGTTCTCCAGGGCCA	0.592000														33			52		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155327174	155327174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:155327174C>T	uc009wqq.3	-	14	7483	c.7003G>A	c.(7003-7005)Gaa>Aaa	p.E2335K	ASH1L_uc001fkt.3_Missense_Mutation_p.E2330K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2335					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTGATATTTTCACTGGGTTCC	0.363000														60			26		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353722	47353722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47353722C>T	uc021qis.1	-	32	3770	c.3715G>A	c.(3715-3717)Gag>Aag	p.E1239K	MYBPC3_uc021qir.1_Missense_Mutation_p.E891K	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1238	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTTCTAATCTCCAGAGTCAAC	0.572000														57			23		0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823171	70823171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:70823171G>A	uc003hes.4	-	4	509	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	CSN2_uc003het.4_Nonsense_Mutation_p.Q165*	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	166					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CACAGGGGCTGAGGGGGAAGT	0.562000														29			20		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573512	56573512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56573512C>T	uc002iwj.2	-	15	2101	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	664						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGGCCCTCCTACCCCAGA	0.532000														66			54		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505786	159505786	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159505786C>T	uc010piw.2	-	0	12	c.12G>A	c.(10-12)aaG>aaA	p.K4K		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGTGAAGTTCTTTCTCTTCA	0.343000														45			32		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173127	126173127	+	Missense_Mutation	SNP	G	C	C	rs147639816		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126173127G>C	uc003vlr.2	-	7	2620	c.2309C>G	c.(2308-2310)aCg>aGg	p.T770R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.T770R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	770					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GACACCTCTCGTTTTAATGGC	0.413000										HNSCC(24;0.065)				30			47		0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494882	1494882	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:1494882G>A	uc003jcm.3	-	2	543	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	142					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGTCACAGGGATGGCGTCGA	0.657000														78			8		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36335128	36335128	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36335128G>T	uc002oby.3	-	15	2245	c.2089C>A	c.(2089-2091)Cgc>Agc	p.R697S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	697					cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GACAGGATGCGATGCCGGGGG	0.672000														35			3		0.150653	0.150807	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54314235	54314235	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54314235C>A	uc002qcj.4	-	2	898	c.678G>T	c.(676-678)ctG>ctT	p.L226L	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.L226L|NLRP12_uc002qci.4_Silent_p.L226L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L226L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	226	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTTGTGTGCCAGCATGGACT	0.577000														73			27		4.74835e-14	4.79878e-14	1	1	0
TAS1R2	80834	broad.mit.edu	37	1	19181459	19181459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19181459C>T	uc001bba.1	-	2	506	c.505G>A	c.(505-507)Gat>Aat	p.D169N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	169					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCAGCTCATCGCTGATGGCG	0.642000														33			30		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535262	96535262	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96535262C>T	uc010qnz.2	+	2	447	c.447C>T	c.(445-447)gcC>gcT	p.A149A	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.A127A	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	149					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAGAGGAAGCCCGCTGCCTTG	0.512000														126			56		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955414	141955414	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141955414G>A	uc003vxb.3	-	1	440	c.120C>T	c.(118-120)ccC>ccT	p.P40P	PRSS58_uc003vxc.4_Silent_p.P40P	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	40	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CTCCAGCGCAGGGCAAGTAGT	0.483000														98			30		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50421744	50421744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50421744C>T	uc003daq.3	-	5	573	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CACNA2D2_uc003dap.3_Missense_Mutation_p.E179K	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	179					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GACCCCCTTTCCACATCCTCA	0.542000														207			123		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436237	158436237	+	Missense_Mutation	SNP	G	A	A	rs142494640		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158436237G>A	uc010pij.2	+	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GAGAAATAAGGAATTCAAATC	0.378000														83			44		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38831715	38831715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:38831715C>T	uc021yzh.1	+	44	6486	c.6377C>T	c.(6376-6378)tCa>tTa	p.S2126L	DNAH8_uc003ooe.2_Missense_Mutation_p.S1909L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGTATTATCAGTGGCAGCA	0.343000														73			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764153	140764153	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140764153C>T	uc003lka.2	+	0	1687	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.L563L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	565	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGAGATCCTGTACCCGGC	0.622000														154			24		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225727399	225727399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:225727399G>A	uc010fwz.1	-	13	1906	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	DOCK10_uc002vob.2_Missense_Mutation_p.P550L|DOCK10_uc002vod.1_Missense_Mutation_p.P556L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	556							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAGCAAAAGGCATACGGTA	0.338000														30			23		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102656453	102656453	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:102656453G>A	uc010mbu.3	+	13	1942	c.1612_splice	c.e13+1	p.V538_splice		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	538						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GACAAAGCGAGGTATCTCTCC	0.562000														14			14		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540442	28540442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28540442C>T	uc003nlo.3	-	3	3842	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1075					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gagttcatttcgtatttcaaa	0.388000														71			34		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171259384	171259384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171259384G>A	uc002ufy.3	+	18	2299	c.2156G>A	c.(2155-2157)gGg>gAg	p.G719E	MYO3B_uc002ufv.3_Missense_Mutation_p.G706E|MYO3B_uc010fqb.1_Missense_Mutation_p.G719E|MYO3B_uc002ufz.3_Missense_Mutation_p.G719E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	719	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGAATGTGGGGATCTTGGAT	0.418000														89			31		0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66785211	66785211	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66785211G>A	uc002eqb.1	-	1	177	c.146C>T	c.(145-147)tCc>tTc	p.S49F	DYNC1LI2_uc010vis.1_Missense_Mutation_p.S49F|DYNC1LI2_uc010vit.2_Missense_Mutation_p.S49F|DYNC1LI2_uc010viu.2_Missense_Mutation_p.S49F	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	49					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CGGCAGCTTGGACCTGGCGCG	0.721000														41			29		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73593698	73593698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:73593698C>T	uc002avm.4	+	27	4394	c.4202C>T	c.(4201-4203)tCc>tTc	p.S1401F	NEO1_uc010ukx.2_Missense_Mutation_p.S1390F|NEO1_uc010uky.2_Missense_Mutation_p.S1348F|NEO1_uc002avn.4_Missense_Mutation_p.S1394F|NEO1_uc010ukz.2_Missense_Mutation_p.S814F	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	1401					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGACAGCCTCCATCGGGACT	0.567000														44			27		0	0	1	0	0
NFS1	9054	broad.mit.edu	37	20	34263105	34263105	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34263105G>A	uc002xdw.2	-	7	887	c.810C>T	c.(808-810)atC>atT	p.I270I	CPNE1_uc002xdn.1_5'Flank|CPNE1_uc002xdo.1_5'Flank|CPNE1_uc002xdp.1_5'Flank|NFS1_uc002xdt.2_Silent_p.I210I|NFS1_uc010zvl.2_Silent_p.I219I|NFS1_uc010zvk.2_Silent_p.I68I	NM_021100	NP_066923	Q9Y697	NFS1_HUMAN	Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	270					Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCCGGCGACGGATGTAGATGG	0.522000														25			14		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43163840	43163840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43163840G>A	uc003ouk.3	+	9	2497	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	CUL9_uc003oul.3_Missense_Mutation_p.E808K|CUL9_uc010jyk.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	808					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCTCCTCGGAGATCCCCAC	0.557000														135			57		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20970723	20970723	+	RNA	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:20970723T>G	uc002zsv.3	-	8		c.1902A>C								Homo sapiens, clone IMAGE:5171202, mRNA.																		AGGGCATGGCTGGTGTCCTGA	0.582000														17			10		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37436352	37436352	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37436352C>T	uc021ppc.1	+	8	1441	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.Q448*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	504						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCTATATATCAAAAAGTAAT	0.279000														32			13		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161127554	161127554	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161127554G>A	uc003qtm.4	+	1	277	c.165G>A	c.(163-165)gaG>gaA	p.E55E	PLG_uc021zhr.1_Silent_p.E55E	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	55	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AATGTGAGGAGGACGAAGAAT	0.423000														94			50		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766854	77766854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:77766854C>T	uc003yau.2	+	9	8084	c.7697C>T	c.(7696-7698)tCc>tTc	p.S2566F	ZFHX4_uc003yaw.1_Missense_Mutation_p.S2521F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2521						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCAGTTCCTCCCACACCACA	0.493000										HNSCC(33;0.089)				67			19		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121530221	121530221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:121530221C>T	uc003ypc.1	+	18	2422	c.2377C>T	c.(2377-2379)Cca>Tca	p.P793S		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	793	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCCATTGGTTCCAATTCCTAG	0.388000														46			40		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100368900	100368900	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100368900G>A	uc003pqh.1	-	5	1254	c.939C>T	c.(937-939)ttC>ttT	p.F313F	MCHR2_uc003pqi.1_Silent_p.F313F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	313						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACGTTTCTGGAAATTTCCAC	0.438000														87			34		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20329515	20329515	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20329515G>A	uc002dgv.3	-	7	1337	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	GP2_uc002dgw.3_Silent_p.I415I|GP2_uc002dgx.3_Silent_p.I271I|GP2_uc002dgy.3_Silent_p.I268I	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	418	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ACCTGTTTCTGATGATGAAAT	0.458000														100			19		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777489	43777489	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43777489C>A	uc001ciu.3	+	9	1658	c.1481C>A	c.(1480-1482)tCg>tAg	p.S494*	TIE1_uc010okd.2_Nonsense_Mutation_p.S494*|TIE1_uc010oke.2_Nonsense_Mutation_p.S449*|TIE1_uc009vwq.3_Nonsense_Mutation_p.S450*|TIE1_uc010okf.1_Nonsense_Mutation_p.S139*|TIE1_uc010okg.2_Nonsense_Mutation_p.S139*	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	494	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATGGACTGGTCGACCATTGTG	0.602000														58			41		7.05377e-20	7.18034e-20	1	1	0
NLRP7	199713	broad.mit.edu	37	19	55450892	55450892	+	Missense_Mutation	SNP	C	T	T	rs148981739	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55450892C>T	uc002qih.4	-	3	1371	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	NLRP7_uc010esk.3_Missense_Mutation_p.R432Q|NLRP7_uc002qig.4_Missense_Mutation_p.R432Q|NLRP7_uc002qii.4_Missense_Mutation_p.R432Q|NLRP7_uc010esl.3_Missense_Mutation_p.R460Q	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	432	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGGTCCTCTCGGTGGAACAC	0.687000														32			25		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820738	55820739	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820738_55820739CC>TT	uc010spm.2	+	0	701_702	c.701_702CC>TT	c.(700-702)gcc>gTT	p.A234V		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGAAAAAAAGCCTTTTCAACCT	0.376000														22			9		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55984567	55984567	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:55984567C>T	uc021wzo.1	-	11	2429	c.2289G>A	c.(2287-2289)aaG>aaA	p.K763K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Silent_p.K759K|ERC2_uc003dht.1_Silent_p.K242K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	763						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGCCACCTTCTTATTCTGAT	0.408000														51			26		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23548930	23548930	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:23548930A>G	uc002wtk.4	-	0	457	c.158T>C	c.(157-159)tTt>tCt	p.F53S		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	53						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GTGGACAGCAAACTCCACTGT	0.527000														55			31		0	0	1	0	0
CD99L2	83692	broad.mit.edu	37	X	149999715	149999715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:149999715G>A	uc004fek.3	-	1	347	c.119C>T	c.(118-120)tCc>tTc	p.S40F	CD99L2_uc011myb.2_Missense_Mutation_p.S40F|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.S40F|CD99L2_uc004fem.3_Missense_Mutation_p.S40F|CD99L2_uc004fen.3_Missense_Mutation_p.S40F	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	40					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTACTGAGGAAGTTTCTTT	0.294000														12			53		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76501436	76501436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76501436C>T	uc010dhp.2	-	30	5020	c.4895G>A	c.(4894-4896)gGa>gAa	p.G1632E		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGTACATTCCCAGGCCCAC	0.557000														53			28		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003322	52003322	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52003322G>A	uc002pwx.1	-	1	716	c.660C>T	c.(658-660)ttC>ttT	p.F220F	SIGLEC12_uc002pww.1_Silent_p.F102F|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	220	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAAGGAGGAGGAATCGACCGT	0.537000														91			56		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52966443	52966443	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52966443G>A	uc001sap.1	-	1	528	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	160	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.R159C(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GCTGCTCTAGGAAGCGTACCT	0.542000														29			19		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190771	49190771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:49190771G>A	uc002rww.3	-	9	1299	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	FSHR_uc010fbn.3_Missense_Mutation_p.P371S|FSHR_uc002rwx.3_Missense_Mutation_p.P335S	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	397					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)	AGGAACCTGGGGACTGTGAGT	0.458000									Gonadal Dysgenesis, 46 XX					48			27		0	0	1	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074056	8074056	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:8074056G>A	uc001aoz.3	-	3	852	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ERRFI1_uc001apa.1_Silent_p.F126F	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	201					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CACACCCACGGAAGCTTCGCC	0.443000														26			21		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49707169	49707169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:49707169G>A	uc003jom.3	-	2	494	c.245C>T	c.(244-246)tCt>tTt	p.S82F	EMB_uc003jol.3_Missense_Mutation_p.S13F|EMB_uc011cpy.2_Missense_Mutation_p.S32F	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	82	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATTTACATTAGAAGGCCTTTC	0.328000														66			16		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137902	72137902	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:72137902C>T	uc001xms.3	+	7	2683	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	SIPA1L1_uc001xmt.3_Silent_p.F774F|SIPA1L1_uc001xmu.3_Silent_p.F774F|SIPA1L1_uc001xmv.3_Silent_p.F774F|SIPA1L1_uc010ttm.2_Silent_p.F249F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	774	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.T773I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGTCACTTTCCCTAAGTCAA	0.483000														138			17		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468083	120468083	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:120468083C>T	uc001eik.3	-	24	4653	c.4356G>A	c.(4354-4356)ggG>ggA	p.G1452G		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1452	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.D1451N(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGTCACCCCCATCCCACT	0.582000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					57			51		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109170	64109170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64109170G>A	uc001nzy.3	+	6	680	c.631G>A	c.(631-633)Ggg>Agg	p.G211R	CCDC88B_uc009ypo.2_Missense_Mutation_p.G208R|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	211					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCCTGATGGGGACACTGTC	0.692000														22			9		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108102576	108102576	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108102576C>T	uc003dxa.1	-	41	5749	c.5692_splice	c.e41-1	p.E1898_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1898						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTTGTGTTTCCtataaaaat	0.328000														33			14		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33966762	33966762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:33966762C>T	uc002hjr.3	+	10	1609	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	AP2B1_uc002hjq.3_Missense_Mutation_p.H474Y|AP2B1_uc010wci.2_Missense_Mutation_p.H436Y|AP2B1_uc002hjs.3_Missense_Mutation_p.H417Y|AP2B1_uc002hjt.3_Missense_Mutation_p.H474Y|AP2B1_uc010ctv.3_Missense_Mutation_p.H474Y|AP2B1_uc010wcj.2_Missense_Mutation_p.H211Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	474					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAGGGTTTTCACGATGAAAG	0.418000														67			39		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147012260	147012260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:147012260G>A	uc010jgo.1	-	11	1907	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R587*|JAKMIP2_uc011dbx.1_Nonsense_Mutation_p.R545*|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R566*|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	587						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGTTTCGAAACTCCAGC	0.388000														86			65		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343452	38343452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:38343452C>T	uc010qev.2	+	3	522	c.418C>T	c.(418-420)Cct>Tct	p.P140S	ZNF33A_uc001izg.3_Missense_Mutation_p.P134S|ZNF33A_uc001izh.3_Missense_Mutation_p.P133S|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.P134S	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGTTCTTTTCCTTCCAGAAA	0.323000														87			20		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137019667	137019667	+	Missense_Mutation	SNP	G	A	A	rs145735047		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137019667G>A	uc003qhc.3	-	3	1127	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	MAP3K5_uc011edk.1_Missense_Mutation_p.R101C|MAP3K5_uc010kgw.1_Missense_Mutation_p.R256C	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	256					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding	p.R256C(2)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGAATAAAACGATCCACAAGA	0.408000														54			25		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11199605	11199605	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11199605A>G	uc003jfa.1	-	10	2075	c.1930T>C	c.(1930-1932)Tta>Cta	p.L644L	CTNND2_uc010itt.2_Silent_p.L553L|CTNND2_uc011cmy.1_Silent_p.L307L|CTNND2_uc011cmz.1_Silent_p.L211L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.L211L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	644					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGCGGAGTAACCTCACCAGT	0.438000														174			17		0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854202	55854202	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55854202C>T	uc002qkj.4	+	3	617	c.369C>T	c.(367-369)atC>atT	p.I123I	SUV420H2_uc010esx.1_Silent_p.I123I|SUV420H2_uc002qkk.1_Silent_p.I123I|SUV420H2_uc002qkl.3_Silent_p.I8I	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	123	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCCAAGATCGTGTCCACTC	0.587000														65			23		0	0	1	0	0
TCEAL3	85012	broad.mit.edu	37	X	102864506	102864506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102864506C>T	uc022cbu.1	+	0	514	c.514C>T	c.(514-516)Cca>Tca	p.P172S	TCEAL3_uc004ekq.3_Missense_Mutation_p.P172S|TCEAL3_uc004ekr.3_Missense_Mutation_p.P172S	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TGTACAGGATCCATTCGCCCC	0.512000														194			50		0	0	1	0	0
RPS7	6201	broad.mit.edu	37	2	3628410	3628410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3628410G>A	uc002qxw.3	+	6	629	c.523G>A	c.(523-525)Ggt>Agt	p.G175S	RPS7_uc002qxy.3_Non-coding_Transcript	NM_001011	NP_001002	P62081	RS7_HUMAN	Homo sapiens ribosomal protein S7 (RPS7), mRNA.	175					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	RNA binding|protein binding|structural constituent of ribosome			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		AACTTTTTCTGGTGTCTATAA	0.323000														30			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418695	179418695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179418695C>T	uc021vsy.1	-	281	81664	c.81439G>A	c.(81439-81441)Gga>Aga	p.G27147R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G20842R|TTN_uc021vta.1_Missense_Mutation_p.G20775R|TTN_uc021vtb.1_Missense_Mutation_p.G20650R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28074	Ig-like 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACCCTGTCCAGCAGCGTTT	0.413000														23			11		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:17280821C>T	uc002zlv.3	-	2	527	c.429G>A	c.(427-429)acG>acA	p.T143T	XKR3_uc011agf.2_Silent_p.T143T	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	143			T -> M (in dbSNP:rs5748648).			integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403000														106			62		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885597	25885597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:25885597G>A	uc001isj.3	+	9	2084	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GPR158_uc001isk.3_Missense_Mutation_p.R50Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	675						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R675Q(2)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AATAACCCACGAGATGATATT	0.408000														22			9		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19073159	19073159	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19073159G>A	uc002dfq.3	+	15	2296	c.2166G>A	c.(2164-2166)agG>agA	p.R722R	TMC7_uc010vap.2_Silent_p.R612R	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGGACATGAGGAACTAACTAG	0.423000														38			18		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48623831	48623831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48623831C>T	uc003ctz.2	-	25	3485	c.3484G>A	c.(3484-3486)Gtt>Att	p.V1162I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1162	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTAGCAGAACCATCACCCCT	0.582000														186			116		0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11651918	11651918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11651918G>A	uc002msc.1	+	1	255	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CNN1_uc010xmb.1_5'UTR|CNN1_uc010xmc.1_5'UTR	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	31	CH.				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CCACCAGCGGGAGCAGGAGCT	0.627000														13			10		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142649704C>T	uc003wcb.3	-	9	1305	c.1095G>A	c.(1093-1095)atG>atA	p.M365I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000														32			40		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269224	63269224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:63269224G>A	uc001xfx.3	-	8	1696	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	KCNH5_uc001xfy.3_Missense_Mutation_p.P549S|KCNH5_uc001xfz.1_Missense_Mutation_p.P491S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGAAAAGCAGGATGTTCATTA	0.493000														30			33		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14861689	14861689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14861689G>A	uc003bzc.3	+	0	1221	c.1111G>A	c.(1111-1113)Ggt>Agt	p.G371S	FGD5_uc011avk.2_Missense_Mutation_p.G371S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	371					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATCAGCGAAAGGTTTAGAATC	0.562000														49			20		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36113938	36113938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36113938G>A	uc003aof.3	+	0	20	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	7					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGCAAACAAGGAAATTTGCAA	0.363000														48			17		0	0	1	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32548563	32548563	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32548563G>A	uc003obp.4	-	3	817	c.723C>T	c.(721-723)ttC>ttT	p.F241F	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_Intron|HLA-DRB5_uc011dqc.1_Silent_p.F71F	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	241					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGGCCCCAAGGAAGAGCAGGC	0.547000														187			30		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886642	123886642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123886642C>T	uc010sac.2	+	0	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCCTATGATCGCTACTTGGC	0.572000														151			4		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826628	13826628	+	Silent	SNP	C	T	T	rs142287236	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:13826628C>T	uc010xaf.2	+	0	1086	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	288					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTGTAATTCCGTGATGGACC	0.463000														105			72		0	0	1	0	0
FAM19A2	338811	broad.mit.edu	37	12	62147424	62147424	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:62147424C>T	uc001sqw.3	-	3	1945	c.363G>A	c.(361-363)ggG>ggA	p.G121G	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Silent_p.G121G|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	121						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TGACTTTATTCCCAGAGGAAC	0.433000														48			32		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94884127	94884127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:94884127G>A	uc002btj.3	+	5	1008	c.943G>A	c.(943-945)Gta>Ata	p.V315I	MCTP2_uc010urg.1_Missense_Mutation_p.V315I|MCTP2_uc002bti.2_Missense_Mutation_p.V315I|MCTP2_uc010boj.3_Missense_Mutation_p.V44I|MCTP2_uc010bok.3_Missense_Mutation_p.V315I|MCTP2_uc002btg.4_Missense_Mutation_p.V315I|MCTP2_uc002bth.4_Missense_Mutation_p.V315I	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	315					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GAACCTAGTGGTAAAACAGGG	0.373000														45			19		0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790723	57790723	+	Silent	SNP	C	T	T	rs138779343		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:57790723C>T	uc003jro.1	+	2	754	c.360C>T	c.(358-360)ttC>ttT	p.F120F	GAPT_uc021xyy.1_Silent_p.F120F	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	120					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						AGTCTAATTTCGAGGAGCATA	0.388000														37			44		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131132539	131132539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:131132539G>A	uc003kvp.2	-	0	218	c.76C>T	c.(76-78)Cca>Tca	p.P26S	RAPGEF6_uc003kvs.1_Missense_Mutation_p.P26S|RAPGEF6_uc003kvt.1_Missense_Mutation_p.P26S|RAPGEF6_uc010jdm.1_Missense_Mutation_p.P26S|RAPGEF6_uc003kvu.3_Missense_Mutation_p.P26S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CCGCAATCTGGGTCCCGGGCG	0.721000														2			3		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87746109	87746109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:87746109C>T	uc003ujn.3	+	6	802	c.587C>T	c.(586-588)tCc>tTc	p.S196F	ADAM22_uc003uji.2_Missense_Mutation_p.S195F|ADAM22_uc003ujj.2_Missense_Mutation_p.S196F|ADAM22_uc003ujk.2_Missense_Mutation_p.S196F|ADAM22_uc003ujl.2_Missense_Mutation_p.S196F|ADAM22_uc003ujm.3_Missense_Mutation_p.S196F|ADAM22_uc003ujo.3_Missense_Mutation_p.S196F|ADAM22_uc003ujp.1_Missense_Mutation_p.S248F	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	196					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGAATTTTCCTTGGATGAT	0.318000														47			15		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247473702	247473702	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:247473702G>A	uc009xgv.3	-	4	853	c.816C>T	c.(814-816)tcC>tcT	p.S272S	ZNF496_uc001ico.3_Silent_p.S236S|ZNF496_uc001icq.1_Silent_p.S11S|ZNF496_uc010pyv.1_Silent_p.S236S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	236	KRAB.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GATCTAGAAGGGACCAATCCT	0.507000														49			15		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27457401	27457401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27457401G>A	uc002dor.2	+	8	1473	c.925G>A	c.(925-927)Gac>Aac	p.D309N	IL21R_uc002doq.2_Missense_Mutation_p.D287N|IL21R_uc002dos.2_Missense_Mutation_p.D287N	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	287					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGCAGCGGAGACTTCAAGGT	0.652000			T	BCL6	NHL									30			15		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944578	55944578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55944578G>A	uc010rjb.2	+	0	485	c.485G>A	c.(484-486)aGc>aAc	p.S162N		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162I(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CACACAATCAGCTTGAGGAGA	0.438000														68			22		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104131471	104131471	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104131471C>T	uc001tjw.3	+	52	5796	c.5610C>T	c.(5608-5610)gaC>gaT	p.D1870D	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1870	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCTTGTTTGACCTGGGTGTGG	0.478000														78			42		0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47741550	47741550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47741550G>A	uc009ylv.3	-	15	3047	c.2894C>T	c.(2893-2895)tCc>tTc	p.S965F	FNBP4_uc001ngj.3_Missense_Mutation_p.S872F	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	965										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CTCTTCACTGGAACTAGAATT	0.433000														27			15		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057631	158057631	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:158057631T>C	uc003ipj.2	+	4	510	c.308T>C	c.(307-309)gTt>gCt	p.V103A	GLRB_uc021xtp.1_Missense_Mutation_p.V103A|GLRB_uc021xtq.1_Missense_Mutation_p.V103A	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	103					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	GACTATAGAGTTAACATCTTC	0.403000														24			9		0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041246	207041246	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207041246A>C	uc021vvl.1	-	0	726	c.726T>G	c.(724-726)agT>agG	p.S242R	GPR1_uc002vbl.4_Missense_Mutation_p.S242R|GPR1_uc010fue.3_Missense_Mutation_p.S242R|GPR1_uc010fuf.3_Missense_Mutation_p.S242R	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	242						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGAAATGCCTACTGGAGATCA	0.428000														37			16		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932100	83932100	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83932100C>A	uc002bjt.1	-	3	1991	c.1903G>T	c.(1903-1905)Gag>Tag	p.E635*	BNC1_uc010uos.1_Nonsense_Mutation_p.E623*	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	635					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGCTCAGTCTCCCTCTCTGAA	0.542000														90			37		2.95478e-19	3.00158e-19	1	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6426818	6426818	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6426818A>T	uc001qnr.3	+	8	1121	c.973A>T	c.(973-975)Aag>Tag	p.K325*	PLEKHG6_uc001qns.3_Nonsense_Mutation_p.K325*|PLEKHG6_uc010sew.2_Nonsense_Mutation_p.K325*|PLEKHG6_uc010sex.2_Nonsense_Mutation_p.K293*	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	325	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TGCTGTGCTCAAGAGGAGCCC	0.617000														38			22		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251218	171251218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171251218C>T	uc009wvz.3	+	6	1065	c.929C>T	c.(928-930)tCt>tTt	p.S310F	FMO1_uc010pme.2_Missense_Mutation_p.S247F|FMO1_uc001ghl.3_Missense_Mutation_p.S310F|FMO1_uc001ghm.3_Missense_Mutation_p.S310F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	310					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGGAAAACTCTGTCATATTT	0.418000														71			29		0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43979579	43979579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43979579C>T	uc002own.4	-	15	2165	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	PHLDB3_uc010eit.3_Missense_Mutation_p.E306K	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	636										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCGTGGTTTTCGTCAGCGGCG	0.672000														38			24		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342239	36342239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36342239C>T	uc002oby.3	-	2	478	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	108	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTCATACTCCGCGTCATCG	0.647000														13			4		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34512395	34512395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34512395C>T	uc003zum.3	+	14	1655	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	488					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CACGGAAGTTCCTGAGGGGTT	0.602000									Kartagener syndrome					35			9		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946454	144946454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144946454G>A	uc003zaa.1	-	0	981	c.968C>T	c.(967-969)gCt>gTt	p.A323V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	323						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGGTGGCAGCCTGGGCCTC	0.662000														72			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477511	179477511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179477511C>T	uc021vsy.1	-	213	42458	c.42233G>A	c.(42232-42234)cGg>cAg	p.R14078Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R7773Q|TTN_uc021vta.1_Missense_Mutation_p.R7706Q|TTN_uc021vtb.1_Missense_Mutation_p.R7581Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15005	Fibronectin type-III 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTTCTCCCGGCAAAGCAC	0.433000														19			5		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103124109	103124109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:103124109C>T	uc001phn.1	+	66	10303	c.10159C>T	c.(10159-10161)Cca>Tca	p.P3387S	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.P3380S	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3380	AAA 5 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTTTTATTCCACCGGATGC	0.363000														38			20		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210977405	210977405	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:210977405G>A	uc001hib.2	-	7	1736	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	KCNH1_uc001hic.2_Silent_p.F495F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	522					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGAGCTTCAGGAAGTCCCGAA	0.458000														36			31		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741400	81741400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:81741400C>T	uc001szo.2	-	17	2305	c.2144G>A	c.(2143-2145)aGt>aAt	p.S715N	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S641N|PPFIA2_uc021rbh.1_Missense_Mutation_p.S616N|PPFIA2_uc021rbi.1_Missense_Mutation_p.S715N|PPFIA2_uc021rbj.1_Missense_Mutation_p.S715N|PPFIA2_uc021rbk.1_Missense_Mutation_p.S697N|PPFIA2_uc021rbl.1_Missense_Mutation_p.S715N|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.S282N|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	641										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGGAGATGAACTGGCCAGCGA	0.542000														181			82		0	0	1	0	0
C1orf55	163859	broad.mit.edu	37	1	226173191	226173191	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:226173191A>G	uc001hpu.4	-	6	1221	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	390										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					ACAGAGGTGAACGCCAATAAA	0.428000														68			36		0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498687	46498687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46498687G>A	uc002pdw.3	+	1	85	c.85G>A	c.(85-87)Gag>Aag	p.E29K	CCDC61_uc021uwd.1_5'UTR	NM_001080402	NP_001073871			Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA.											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AATCAGAAGCGAGAACGCCGG	0.607000														11			5		0	0	1	0	0
KIAA1033	23325	broad.mit.edu	37	12	105551072	105551072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:105551072C>T	uc010swr.2	+	27	2974	c.2887C>T	c.(2887-2889)Ctt>Ttt	p.L963F	KIAA1033_uc001tld.3_Missense_Mutation_p.L962F|KIAA1033_uc010sws.2_Missense_Mutation_p.L774F	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	962					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGAAGAAGGTCTTGCAGAAGA	0.294000														46			21		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201081345	201081345	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201081345C>T	uc001gvv.3	-	0	350	c.123G>A	c.(121-123)agG>agA	p.R41R		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	41					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.L40P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCAGGCCTTCCTCAGGGGGT	0.602000														68			33		0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74628610	74628610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:74628610C>T	uc001jtc.3	+	4	667	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	MCU_uc009xqp.1_Non-coding_Transcript|MCU_uc009xqq.1_Non-coding_Transcript|MCU_uc010qjy.1_Non-coding_Transcript|MCU_uc009xqr.3_Intron|MCU_uc001jtd.3_Missense_Mutation_p.P167S	NM_138357	NP_612366	Q8NE86	MCU_HUMAN	Homo sapiens mitochondrial calcium uniporter (MCU), nuclear gene encoding mitochondrial protein, mRNA.	216					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GCAGCTGGCTCCCCTGGAAAA	0.398000														23			7		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242023858	242023858	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:242023858A>G	uc021plj.1	+	6	1110	c.796A>G	c.(796-798)Acg>Gcg	p.T266A	EXO1_uc001hzh.3_Missense_Mutation_p.T266A|EXO1_uc009xgq.3_Missense_Mutation_p.T266A|EXO1_uc021plk.1_Missense_Mutation_p.T266A	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	266	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	p.T266M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GATGAATATCACGGTACCAGA	0.358000								Editing and processing nucleases						80			70		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10157488	10157488	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:10157488G>A	uc010dwx.2	+	8		c.1322G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGCTCTGGAGGAAGTTCACTC	0.537000														31			29		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69693137	69693137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69693137C>T	uc003hee.3	+	4	1203	c.1178C>T	c.(1177-1179)cCa>cTa	p.P393L	UGT2B10_uc011cam.2_Missense_Mutation_p.P309L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	393					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P393S(1)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GTGGGCATTCCATTGTTTTTT	0.448000														95			71		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208866170	208866170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:208866170G>A	uc002vcl.2	-	1	684	c.194C>T	c.(193-195)tCc>tTc	p.S65F	PLEKHM3_uc002vcm.2_Missense_Mutation_p.S65F	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	65					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGCCCAGGGAGGTGACATT	0.498000														57			36		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3277521	3277521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3277521C>T	uc002wii.2	-	22	2056	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K	C20orf194_uc002wij.3_Missense_Mutation_p.E408K|C20orf194_uc002wik.2_Missense_Mutation_p.E343K	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	669										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTCTTTTGTTCCACAGATAAT	0.433000														255			105		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37395976	37395976	+	Missense_Mutation	SNP	G	A	A	rs142285042		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37395976G>A	uc003aqf.3	-	3	685	c.539C>T	c.(538-540)tCa>tTa	p.S180L	TEX33_uc003aqe.3_Missense_Mutation_p.S95L	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	180																	GCTGGGCCATGAGCTTGCCCT	0.517000														40			47		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10934049	10934050	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10934049_10934050GG>AA	uc002yip.1	-	15	1295_1296	c.927_928CC>TT	c.(925-930)gtcccc>gtTTcc	p.P310S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P292S|TPTE_uc002yir.1_Missense_Mutation_p.P272S|TPTE_uc010gkv.1_Missense_Mutation_p.P172S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	310	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTAGAGTGGGGACATTATGAT	0.302000														143			22		0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86888766	86888766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:86888766G>A	uc004efa.2	+	7	1749	c.1567G>A	c.(1567-1569)Gga>Aga	p.G523R	KLHL4_uc004efb.2_Missense_Mutation_p.G523R	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	523						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.G523G(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CACTCTTGAAGGACCAATGTA	0.403000														11			28		0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214709	37214710	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:37214709_37214710GG>AA	uc002xjb.1	+	1	218_219	c.162_163GG>AA	c.(160-165)tgggag>tgAAag	p.54_55WE>*K		NM_001018082	NP_001018092	Q0VDE8	ADIG_HUMAN	Homo sapiens adipogenin (ADIG), mRNA.	54					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus		p.S53R(1)		endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTGGATTGGGAGCCCTGGAG	0.584000														16			6		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226449	23226449	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23226449C>T	uc002dlm.1	+	12	1748	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	537					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGCTGGGCCTGTGGATGAG	0.547000														31			13		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36748198	36748198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36748198C>T	uc001cae.4	+	2	258	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	THRAP3_uc001caf.4_Missense_Mutation_p.R12C|THRAP3_uc001cag.1_Missense_Mutation_p.R12C	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	12	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCTGGATCTCGCTCTTCTCG	0.433000			T	USP6	aneurysmal bone cysts									33			22		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32974436	32974436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32974436C>T	uc001rlj.4	-	9	2114	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	PKP2_uc001rlk.4_Missense_Mutation_p.E623K|PKP2_uc010skj.2_Missense_Mutation_p.E620K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	667					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTGCTCTTTTCCTCCGGCATC	0.478000														71			30		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568815	5568815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:5568815C>T	uc003sot.4	-	2	424	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	114					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TCGCGGTTGGCCTTGGGGTTC	0.642000														58			31		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50683882	50683882	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50683882G>A	uc002lfe.2	+	8	2034	c.1418_splice	c.e8+1	p.R473_splice	DCC_uc010xdr.1_Splice_Site_p.R321_splice|DCC_uc010dpf.2_Splice_Site_p.R128_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	473	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTGACAACAGGTAGGTGATG	0.478000														27			21		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696318	33696318	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33696318G>A	uc010edh.3	+	4	735	c.642G>A	c.(640-642)ggG>ggA	p.G214G	LRP3_uc010xrp.1_Silent_p.G88G|LRP3_uc002nuk.4_Silent_p.G88G	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	214	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TGTGCCCCGGGGGGACCTTCC	0.726000														11			8		0	0	1	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448725	142448725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142448725C>T	uc011ksl.1	+	1	350	c.319C>T	c.(319-321)Ctc>Ttc	p.L107F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Missense_Mutation_p.L103F					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGCATATATCTCTGCAGCGT	0.517000														20			18		0	0	1	0	0
ZNF439	90594	broad.mit.edu	37	19	11977055	11977055	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:11977055C>T	uc002mss.3	+	0	212	c.84C>T	c.(82-84)ttC>ttT	p.F28F	ZNF439_uc002msr.3_Intron	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTGTGAACTTCACCCAGGAGG	0.493000														90			82		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249843	177249843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177249843G>A	uc001glf.3	+	7	1843	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	FAM5B_uc001glg.3_Missense_Mutation_p.D406N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	511						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGACTTGCAGGACCTGGAGCT	0.592000														57			24		0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245604	137245604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:137245604G>A	uc003qhe.3	+	1	1186	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	341					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GCCCGGGGAGGGAGGAAATGG	0.682000														16			11		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996094	10996094	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10996094C>T	uc002yis.1	-	11		c.2092G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTGGTTTTCCCTTGCCCAGT	0.388000														49			12		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236748463	236748463	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:236748463T>A	uc001hyd.2	-	16	2255	c.2103A>T	c.(2101-2103)aaA>aaT	p.K701N	HEATR1_uc009xgh.2_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	701					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAAACGTTACTTTCTGCTTCA	0.393000														51			35		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129214405	129214405	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:129214405C>T	uc003eml.3	+	18	2522	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	IFT122_uc003emm.3_Silent_p.L721L|IFT122_uc003emn.3_Silent_p.L662L|IFT122_uc003emo.3_Silent_p.L610L|IFT122_uc003emp.3_Silent_p.L571L|IFT122_uc010htc.3_Silent_p.L713L|IFT122_uc011bky.2_Silent_p.L512L|IFT122_uc011bla.2_Silent_p.L494L|IFT122_uc003emr.3_Silent_p.L473L|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Silent_p.L102L|IFT122_uc011bkx.1_Silent_p.L561L|IFT122_uc010htd.1_Silent_p.L200L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	721					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.L772I(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACGAGAACCTCGCGCTTGAAA	0.532000														59			30		0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53150371	53150371	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:53150371C>T	uc002iuf.1	+	12	1329	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	STXBP4_uc010dcd.1_Silent_p.I352I	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	374						cytoplasm	calcium ion binding	p.V373V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGAAGTGATCCGTCTGTTAG	0.443000														111			49		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320584	79320584	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79320584A>G	uc010mpk.3	-	7	6730	c.6606T>C	c.(6604-6606)ggT>ggC	p.G2202G	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.G2024G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2202					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATACTTGTAAACCTGTACTGT	0.443000														34			29		0	0	1	0	0
COL9A2	1298	broad.mit.edu	37	1	40771858	40771858	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40771858C>T	uc001cfh.1	-	20	1121	c.1009_splice	c.e20-1	p.G337_splice	COL9A2_uc001cfi.1_Splice_Site_p.G156_splice	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	337	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GCCTGGCACACCCTGCAGAAA	0.587000														37			17		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584311	101584311	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101584311G>A	uc001thz.4	-	5	1158	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	256					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						TGACACCGTAGATGCTGGTCC	0.383000														90			43		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505078	70505078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:70505078G>A	uc011caq.2	-	2	1000	c.884C>T	c.(883-885)tCc>tTc	p.S295F	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.S94F|UGT2A1_uc021xox.1_Missense_Mutation_p.S94F|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	85					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCAATTAAGGAATCTATATT	0.388000														51			20		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15579187	15579187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:15579187G>A	uc002yjm.3	-	0	68	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	LIPI_uc021whg.1_Intron|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Intron|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Intron|LIPI_uc021whe.1_Intron|LIPI_uc021whf.1_Intron	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	0					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGTGAGAACTGAAAAGCATGA	0.338000														23			18		0	0	1	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139298636	139298636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139298636G>A	uc004chi.3	-	8	1284	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	SDCCAG3_uc004chj.3_Missense_Mutation_p.S337F|SDCCAG3_uc004chk.3_Missense_Mutation_p.S287F	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	360						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTGGAAGTTGGAGACCTGCGC	0.667000														57			55		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30723990	30723990	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:30723990C>T	uc002ynl.2	+	4		c.1956C>T				NM_206866		O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.							nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGAAGTGTTCCATACCATTC	0.433000														66			19		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54209100	54209100	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:54209100C>G	uc004dsz.4	-	0	615	c.532G>C	c.(532-534)Gac>Cac	p.D178H	FAM120C_uc011moh.2_Missense_Mutation_p.D178H|FAM120C_uc004dta.2_Missense_Mutation_p.D178H	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	178										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCCAGCCGGTCCTTGCCCAGG	0.706000														6			13		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552664	152552664	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:152552664C>T	uc021zhb.1	-	111	21124	c.20901G>A	c.(20899-20901)gtG>gtA	p.V6967V	SYNE1_uc003qos.4_Silent_p.V1491V|SYNE1_uc003qot.4_Silent_p.V6896V|SYNE1_uc003qou.4_Silent_p.V6967V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6967					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACAAAATCCACTGTCAGCT	0.358000										HNSCC(10;0.0054)				34			21		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121301985	121301985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:121301985C>T	uc003yox.3	+	33	4481	c.4216C>T	c.(4216-4218)Cca>Tca	p.P1406S	COL14A1_uc003yoz.3_Missense_Mutation_p.P371S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1406	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATCAAGAGGACCAGGTGGAAA	0.428000														53			72		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739197	119739197	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:119739197G>T	uc002tln.1	+	10	998	c.866_splice	c.e10-1	p.G289_splice	MARCO_uc010yyf.1_Splice_Site_p.G211_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	289	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCATCTTAGGTTTGGCTGGT	0.438000														54			23		2.27525e-19	2.31368e-19	1	1	0
SKAP1	8631	broad.mit.edu	37	17	46423311	46423311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46423311G>A	uc002ini.1	-	3	348	c.236C>T	c.(235-237)tCc>tTc	p.S79F	SKAP1_uc002inj.1_Missense_Mutation_p.S79F|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.S79F	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	79					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGATGTGAGGGACAGGCCAAG	0.463000														48			30		0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287665	79287665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:79287665G>A	uc002kad.2	-	2	726	c.176C>T	c.(175-177)tCc>tTc	p.S59F		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	59						integral to membrane		p.S59S(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCGAGGTGGGGACCCCTGGGG	0.627000														119			71		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226579	39226579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39226579G>A	uc003cjk.2	-	1	4587	c.4358C>T	c.(4357-4359)tCc>tTc	p.S1453F	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S136F|XIRP1_uc021wvz.1_Missense_Mutation_p.S1453F	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1453							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)		CCCTTGGTGGGAACCTTCCAT	0.637000														85			46		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728070	50728071	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:50728070_50728071GG>AA	uc003bkv.4	-	2	1036_1037	c.943_944CC>TT	c.(943-945)ccg>TTg	p.P315L		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	315	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGTCCAGCGGGAACAGGCAG	0.658000														80			29		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983995	97983995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97983995G>A	uc003dsi.1	+	0	867	c.867G>A	c.(865-867)atG>atA	p.M289I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGATATGATGGAGTCTCTAT	0.403000														37			19		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049375	184049375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:184049375G>A	uc003fnp.3	+	29	4647	c.4376G>A	c.(4375-4377)cGg>cAg	p.R1459Q	EIF4G1_uc010hxx.3_Missense_Mutation_p.R1466Q|EIF4G1_uc003fnt.3_Missense_Mutation_p.R1170Q|EIF4G1_uc010hxy.3_Missense_Mutation_p.R1466Q|EIF4G1_uc003fnq.3_Missense_Mutation_p.R1372Q|EIF4G1_uc003fnr.3_Missense_Mutation_p.R1295Q|EIF4G1_uc003fns.3_Missense_Mutation_p.R1419Q|EIF4G1_uc003fnv.4_Missense_Mutation_p.R1460Q|EIF4G1_uc003fnw.3_Missense_Mutation_p.R1466Q|EIF4G1_uc003fnx.3_Missense_Mutation_p.R1264Q	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1459	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTAACCAGCGGGTGTTCGAC	0.582000														34			71		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83239320	83239320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:83239320C>T	uc003kio.1	-	10	1780	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	EDIL3_uc003kip.1_Missense_Mutation_p.R444Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	454	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TCTTATGTGTCGTGCATAGAT	0.468000														74			6		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350878	56350878	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56350878T>C	uc002ivu.1	-	8	1695	c.1518A>G	c.(1516-1518)caA>caG	p.Q506Q		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	506					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACATGAAGGGTTGGATGAGGG	0.597000														157			161		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871692	15871692	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:15871692G>A	uc002nbo.3	-	8		c.1316C>T								Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		GAGTTGAAGCGGAAGGGGTTG	0.577000														28			32		0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114498132	114498132	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:114498132G>A	uc001vuh.3	+	3	291	c.264G>A	c.(262-264)gcG>gcA	p.A88A		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	88						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			TGGTGGCAGCGATCGTGTTTA	0.542000														25			30		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81176591	81176591	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81176591C>T	uc002bfw.1	+	5	953	c.693C>T	c.(691-693)atC>atT	p.I231I	KIAA1199_uc010unn.1_Silent_p.I231I	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	231										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATGGCAGGATCCTTTCTGTTG	0.478000														74			46		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31332543	31332543	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:31332543G>A	uc021sia.1	-	16	2459	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	TRPM1_uc010azy.3_Silent_p.F583F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F698F|TRPM1_uc001zfm.3_Silent_p.F676F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	676					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAAGCTGGCCGAAGTCTCTGG	0.522000														61			19		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52500759	52500759	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:52500759C>T	uc010bff.3	-	35	4540	c.4378G>A	c.(4378-4380)Gga>Aga	p.G1460R	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1460	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACCTCTTCTCCGCTGTACTGC	0.463000											OREG0023129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			37		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12638133	12638133	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12638133G>C	uc002mty.3	-	3	999	c.789C>G	c.(787-789)gaC>gaG	p.D263E	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AACTGGGGCGGTCAAAGGCTT	0.398000														48			43		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057110	43057110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:43057110G>A	uc002xma.3	+	8	1354	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q	HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Missense_Mutation_p.R400Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R415Q|HNF4A_uc002xlz.3_Intron	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	422					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTGGCCCCGACCCAGGGGA	0.557000														25			18		0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671416	31671416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:31671416G>A	uc010zue.2	+	2	428	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	138	Gly-rich.					cytoplasm|extracellular region	lipid binding										GGCCTCGGGCGATACAGGGCA	0.622000														59			29		0	0	1	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171568	98171568	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98171568A>C	uc010yvc.1	-	13	1406	c.1126T>G	c.(1126-1128)Ttg>Gtg	p.L376V	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA.	376																	GCTGTATTCAAAGCAGAATCT	0.323000														27			14		0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515862	26515862	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26515862G>A	uc001bln.4	+	20	2044	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	CNKSR1_uc001blm.4_Silent_p.R655R|CNKSR1_uc009vsd.3_Silent_p.R397R|CNKSR1_uc009vse.3_Silent_p.R397R|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	662			R -> W (in dbSNP:rs17163640).		Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAACCGGGAGCTGTACT	0.617000														31			16		0	0	1	0	0
SF3B4	10262	broad.mit.edu	37	1	149895905	149895905	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:149895905C>T	uc001etk.2	-	5	1407	c.914_splice	c.e5-1	p.G305_splice		NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	305						U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCTGAGACATCCCTATGAAAA	0.488000														7			5		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89061118	89061118	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:89061118G>A	uc003hrg.3	-	1	523	c.30C>T	c.(28-30)atC>atT	p.I10I	ABCG2_uc003hrh.3_Silent_p.I10I|ABCG2_uc003hri.1_Silent_p.I10I|ABCG2_uc003hrj.1_Silent_p.I10I|ABCG2_uc003hrk.1_Silent_p.I10I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	10					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTGACACTGGGATAAAAACTT	0.408000														21			11		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201012412	201012412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201012412G>A	uc001gvv.3	-	39	5272	c.5045C>T	c.(5044-5046)tCc>tTc	p.S1682F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1682					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACTACCTGGAAAACACATG	0.542000											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		209			92		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4516634	4516634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4516634C>T	uc002mar.1	-	1	208	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K		NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	70						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCACCTTTTCCGAAGGTTGC	0.637000														0			6		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777580	44777580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44777580G>A	uc021uvi.1	+	4	873	c.767G>A	c.(766-768)gGa>gAa	p.G256E	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.G71E|ZNF233_uc002oyz.2_Missense_Mutation_p.G256E	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ATCCAATCAGGAGAGCAAACC	0.393000														60			16		0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37541212	37541213	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:37541212_37541213GT>AA	uc004aac.3	-	1	681_682	c.601_602AC>TT	c.(601-603)acg>TTg	p.T201L	FBXO10_uc004aab.3_Missense_Mutation_p.T185L|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	185						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCAGGCTGGCGTGAAGACGAGG	0.554000														115			25		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231268	21231268	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21231268C>T	uc002red.3	-	25	8600	c.8472G>A	c.(8470-8472)ctG>ctA	p.L2824L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2824					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)	CTGACTCCTTCAGAGCCAGCG	0.423000														122			50		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026230	79026230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026230C>T	uc003kgc.3	+	1	1714	c.1642C>T	c.(1642-1644)Cca>Tca	p.P548S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	548	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAGCCCTTCCCACCACATAT	0.433000														44			52		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990997	47990997	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:47990997G>A	uc002xur.1	-	1	1266	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	KCNB1_uc002xus.1_Missense_Mutation_p.S367F	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	367					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACCAGAAAGAGGCTGGGAT	0.507000														59			29		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178090	20178090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20178090C>T	uc021qez.1	-	3	819	c.816G>A	c.(814-816)atG>atA	p.M272I	DBX1_uc021qey.1_Missense_Mutation_p.M234I	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	234					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TCCGCCATTTCATGCGTCGGT	0.637000														44			27		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420986	27420986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:27420986C>T	uc003njj.3	-	4	1163	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZNF184_uc010jqv.3_Missense_Mutation_p.E118K|ZNF184_uc003nji.3_Missense_Mutation_p.E118K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S117F(2)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCTTCAGAAATGTCA	0.378000														50			30		0	0	1	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892705	72892705	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:72892705A>G	uc003tyc.3	-	6	1438	c.1086T>C	c.(1084-1086)ccT>ccC	p.P362P		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	362	Lys-rich.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.P362S(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GATGTTCTTCAGGAGATTTGG	0.423000														41			20		0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169611810	169611810	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169611810C>T	uc011cjx.2	+	6	1603	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	PALLD_uc003iru.3_Silent_p.V464V|PALLD_uc003irv.3_Silent_p.V82V	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	464	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGTGCCGGGTCCGTGGGGCAC	0.527000									Pancreatic Cancer, Familial Clustering of					84			54		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295495	29295495	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:29295495T>G	uc002rmt.2	-	0	1633	c.1633A>C	c.(1633-1635)Aag>Cag	p.K545Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	545					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ATTGACTCCTTCATCTTCAGA	0.577000														45			36		0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74695192	74695192	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:74695192G>A	uc011csu.2	-	10	1553	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	COL4A3BP_uc003kds.3_Intron|COL4A3BP_uc003kdt.3_Silent_p.S505S|COL4A3BP_uc003kdu.2_Silent_p.S377S	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	377					ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGAAGACATGGAGGAAGAGC	0.433000														19			19		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54795612	54795612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54795612G>A	uc001sga.3	-	21	2322	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	752					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CGGAGATGAGGGACTGTAAAC	0.552000														49			21		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57976385	57976385	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57976385G>A	uc001sor.1	+	27	3201	c.2993_splice	c.e27-1	p.G998_splice	KIF5A_uc010srr.1_Splice_Site_p.G909_splice|BC033961_uc001sos.3_5'Flank	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	998	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCTCTTCAGGAAATGCCACA	0.438000														168			76		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24718746	24718746	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24718746C>T	uc001wod.3	-	15	2350	c.2226_splice	c.e15-1	p.G742_splice	TGM1_uc010tog.2_Splice_Site_p.G300_splice	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	742					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCTCCAATGTCCCTGTGGGCA	0.597000														10			12		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740678	101740678	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101740678C>T	uc003uys.4	+	4	463	c.336C>T	c.(334-336)ctC>ctT	p.L112L	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Silent_p.L96L|CUX1_uc003uyt.3_Silent_p.L112L|CUX1_uc003uyu.3_Silent_p.L112L|CUX1_uc011kkn.2_Silent_p.L75L|CUX1_uc003uyx.4_Silent_p.L101L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	101					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACAGCAACTCCAGCTCAAAG	0.507000														101			39		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159854279	159854279	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159854279C>T	uc001fui.3	-	6	862	c.844G>A	c.(844-846)Gag>Aag	p.E282K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E197K|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.E268K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	282						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGCTCCTTCTCCTGCTCCCGC	0.522000														204			94		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211364	64211364	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:64211364G>T	uc002lkc.1	-	6	1196	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.S353Y|CDH19_uc002lkd.3_Missense_Mutation_p.S353Y	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	353	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GAAAGTGGTGGAAGCCTCAGT	0.423000														27			19		4.96729e-08	5.0012e-08	1	1	0
HK2	3099	broad.mit.edu	37	2	75104393	75104394	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:75104393_75104394CC>TT	uc002snd.3	+	7	2902_2903	c.976_977CC>TT	c.(976-978)cca>TTa	p.P326L		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	326	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGCTCAGCCCAGAGCTTCTC	0.545000														192			59		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112237856	112237856	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112237856G>A	uc001tst.3	+	10	1491	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	ALDH2_uc010syi.2_Silent_p.A418A	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCCTCCAGGCGGGCACTGTGT	0.567000			T	HMGA2	leiomyoma									16			16		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620526	137620526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137620526G>A	uc004cfe.3	+	5	1179	c.797G>A	c.(796-798)gGa>gAa	p.G266E		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	266	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TACACGGAAGGAGACGGCGAG	0.602000														50			82		0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114452426	114452426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:114452426G>A	uc003ibi.3	-	7	1406	c.547C>T	c.(547-549)Cca>Tca	p.P183S	CAMK2D_uc003ibj.3_Missense_Mutation_p.P183S|CAMK2D_uc003ibk.3_Missense_Mutation_p.P183S|CAMK2D_uc003ibo.4_Missense_Mutation_p.P183S|CAMK2D_uc003ibm.2_Missense_Mutation_p.P183S|CAMK2D_uc003ibn.2_Missense_Mutation_p.P183S|CAMK2D_uc003ibl.2_Missense_Mutation_p.P183S	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	183	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAAACTTCTGGAGAAAGATAT	0.363000														38			17		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672703	151672703	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:151672703C>T	uc011eep.2	+	3	3417	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T	AKAP12_uc003qoe.3_Silent_p.T1059T|AKAP12_uc003qof.3_Silent_p.T961T|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.T954T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1059					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCCTGGCACCGGTGGGCCAG	0.557000														29			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203457	140203457	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140203457G>A	uc003lhl.2	+	0	2097	c.2097G>A	c.(2095-2097)ctG>ctA	p.L699L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.L699L|PCDHAC2_uc003lhj.1_Silent_p.L699L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	708					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.687000														107			11		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149075	103149075	+	Silent	SNP	G	A	A	rs145203765		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:103149075G>A	uc002tbz.4	+	11	2782	c.2325G>A	c.(2323-2325)tcG>tcA	p.S775S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	775					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R774W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGTTCGGTCGAGGTGGACAG	0.522000														15			12		0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779289	159779289	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159779289C>T	uc001fud.4	+	4	744	c.702C>T	c.(700-702)tcC>tcT	p.S234S	FCRL6_uc001fuc.2_Silent_p.S241S|FCRL6_uc009wsz.1_Silent_p.S139S|FCRL6_uc009wta.3_Silent_p.S234S	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	234	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGAGGGGCTCCCCTCCGATCC	0.597000														66			34		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777747	43777747	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43777747G>A	uc001ciu.3	+	10	1752	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	TIE1_uc010okd.2_Silent_p.G525G|TIE1_uc010oke.2_Silent_p.G480G|TIE1_uc009vwq.3_Silent_p.G481G|TIE1_uc010okf.1_Silent_p.G170G|TIE1_uc010okg.2_Silent_p.G170G	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	525	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCGGCCAGGGGAAGGAGGAG	0.602000														61			33		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715373	165715373	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:165715373G>A	uc003qum.4	-	1	474	c.438C>T	c.(436-438)ttC>ttT	p.F146F	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	146										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCACTGGAAGGAAATCCTCCT	0.627000														79			34		0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55949720	55949721	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:55949720_55949721GG>AA	uc002xyg.3	+	10	1224_1225	c.883_884GG>AA	c.(883-885)ggt>AAt	p.G295N	MIR5095_uc021wfc.1_Intron|RAE1_uc010gis.1_Missense_Mutation_p.G248N|RAE1_uc010git.1_Missense_Mutation_p.G295N|RAE1_uc002xyi.3_Missense_Mutation_p.G295N	NM_003610	NP_003601	P78406	RAE1L_HUMAN	Homo sapiens RAE1 RNA export 1 homolog (S. pombe) (RAE1), transcript variant 1, mRNA.	295					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	RNA binding|microtubule binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGGATCTGATGGTAGATTCAGC	0.470000														191			76		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029643	13029643	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13029643G>A	uc002wod.1	+	1	457	c.168G>A	c.(166-168)gaG>gaA	p.E56E	SPTLC3_uc002woc.3_Silent_p.E56E	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	56					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AATCGTTTGAGGAAGCACCCC	0.373000														103			62		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531535	150531535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150531535G>A	uc009wlw.3	+	15	2884	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	ADAMTSL4_uc001eux.3_Missense_Mutation_p.G886E|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G847E|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.G49E	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	886	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCAGGAGCAGGAACTGGGCAG	0.687000														25			20		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174413	207174413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207174413C>T	uc002vbp.2	+	4	5411	c.5161C>T	c.(5161-5163)Cat>Tat	p.H1721Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1721							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCAGCGCTCCATCGAAGGGC	0.453000														24			9		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2297848	2297848	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2297848C>T	uc002wfx.4	+	5	901	c.804C>T	c.(802-804)gtC>gtT	p.V268V		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	268					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCAGCCCAGTCCGATATGGCC	0.582000														78			65		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968399	106968399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:106968399G>A	uc003prh.3	+	1	3004	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	698							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTCTGATATGGAAAAATTCAC	0.423000														53			22		0	0	1	0	0
ATP5G2	517	broad.mit.edu	37	12	54063657	54063657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54063657C>T	uc001sec.3	-	2	419	c.286G>A	c.(286-288)Gag>Aag	p.E96K	ATP5G2_uc001sed.3_Missense_Mutation_p.E55K|ATP5G2_uc009znc.3_Missense_Mutation_p.E39K	NM_005176	NP_005167	Q06055	AT5G2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) (ATP5G2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	39					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TAAGGTACCTCATCTGTCAGT	0.552000														73			23		0	0	1	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320910	78320910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:78320910C>T	uc010thy.1	+	3	729	c.686C>T	c.(685-687)cCt>cTt	p.P229L	SLAIN1_uc001vkk.2_Missense_Mutation_p.P152L|SLAIN1_uc010thz.1_Missense_Mutation_p.P107L|SLAIN1_uc001vkl.1_Missense_Mutation_p.P108L|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Missense_Mutation_p.P108L	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	371										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		CAGTATTTTCCTTCAAATAAT	0.453000														24			51		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9878064	9878064	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9878064G>A	uc001mib.2	-	18	2442	c.2304C>T	c.(2302-2304)ctC>ctT	p.L768L	SBF2_uc001mif.3_Silent_p.L524L|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	768					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATGTTCTTAGGAGCTTGTTTT	0.473000														68			30		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351256	40351256	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:40351256C>T	uc003gva.1	+	3	739	c.723C>T	c.(721-723)atC>atT	p.I241I		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	241					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CGTTCTATATCGTCAACCTCC	0.527000														386			149		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9737125	9737125	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:9737125T>C	uc002gmd.1	+	2	190	c.190_splice	c.e2-1	p.V64_splice	GLP2R_uc010cog.1_Splice_Site	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	64					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTGCTCAGGTTACAGGATCC	0.493000														15			27		0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358285	72358287	+	Missense_Mutation	DNP	GC	TG	TG			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:72358285_72358287GC>TG	uc009xqg.3	-	2	1351_1353	c.1190_1192GC>CA	c.(1189-1194)tgccat>tCAat	p.397_398CH>S	PRF1_uc001jrf.4_Missense_Mutation_p.397_398CH>S	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	397	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCTGAGCCATGGCACACACACTG	0.685000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					22			6		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79933406	79933406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79933406G>A	uc004akr.3	+	40	5472	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	VPS13A_uc004akp.4_Missense_Mutation_p.G1738S|VPS13A_uc004akq.4_Missense_Mutation_p.G1738S|VPS13A_uc004aks.3_Missense_Mutation_p.G1699S|VPS13A_uc004akt.3_Missense_Mutation_p.G78S|VPS13A_uc010mpo.1_Missense_Mutation_p.G334S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1738					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGCTGGAATTGGTCATAGAAC	0.393000														25			57		0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784770	116784770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:116784770G>A	uc003pwv.3	+	2	945	c.850G>A	c.(850-852)Gag>Aag	p.E284K		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	284						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAACAGAAAAGAGAAGACTCA	0.423000														136			71		0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795370	40795370	+	Silent	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:40795370T>G	uc002yxu.3	-	4	682	c.369A>C	c.(367-369)tcA>tcC	p.S123S	LCA5L_uc002yxv.3_Silent_p.S123S|LCA5L_uc021wji.1_5'UTR|LCA5L_uc002yxw.2_Silent_p.S123S|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	123										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AATTAAAGAGTGATGCATTCC	0.343000														62			26		0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86362103	86362103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:86362103G>A	uc002sqw.2	+	20	1837	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	PTCD3_uc002sqx.1_Missense_Mutation_p.E181K|SNORD94_uc010fgr.1_5'Flank	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	591						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACTCAGGAAGCCTGGTG	0.458000														85			31		0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183599703	183599703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183599703G>A	uc001gql.3	-	2	477	c.286C>T	c.(286-288)Caa>Taa	p.Q96*	ARPC5_uc021pgb.1_Nonsense_Mutation_p.Q46*	NM_005717	NP_005708	O15511	ARPC5_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5, 16kDa (ARPC5), mRNA.	96					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TCCAGAGATTGAACTGCCTTT	0.408000														67			41		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579150	33579150	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33579150G>A	uc001rll.1	-	1	729	c.432C>T	c.(430-432)gtC>gtT	p.V144V	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	144						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAGCAGTTTGGACTTCTGCTG	0.368000														143			90		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173432	47173432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:47173432C>T	uc001rpi.2	-	9	1078	c.679G>A	c.(679-681)Gga>Aga	p.G227R	SLC38A4_uc001rpj.2_Missense_Mutation_p.G227R|SLC38A4_uc009zkl.2_Missense_Mutation_p.G227R	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	227					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.G227E(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGAGAAAATCCACTGGTATAG	0.348000														99			38		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027796	79027796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79027796C>T	uc003kgc.3	+	1	3280	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1070						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGAAACTTTCCCTTTGATGTC	0.433000														16			9		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727557	66727557	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:66727557C>T	uc010bhq.3	+	1	748	c.273C>T	c.(271-273)ggC>ggT	p.G91G	MAP2K1_uc010ujp.2_Silent_p.G69G	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	91	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGCCTTCTGGCCTGGTCATGG	0.512000														113			72		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034436	58034436	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:58034436T>C	uc001nmq.1	-	0	1297	c.895A>G	c.(895-897)Aac>Gac	p.N299D		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAAAGGCAGTTCCTGGTAAGA	0.498000														77			32		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980599	110980599	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110980599G>A	uc003ynr.4	-	2	2025	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	KCNV1_uc010mcw.3_Silent_p.I407I	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	407						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I407I(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGAAGGCCACGATTTTGCCTG	0.473000														96			40		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251393	25251393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:25251393C>T	uc002dod.4	-	6	3055	c.2648G>A	c.(2647-2649)gGg>gAg	p.G883E	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.G679E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	883					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGATTCTCCCCAGTGTGAAC	0.478000														52			7		0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40035300	40035300	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40035300A>G	uc001cdl.2	-	4	1603	c.705T>C	c.(703-705)ttT>ttC	p.F235F	PABPC4_uc010oiv.1_Silent_p.F235F|PABPC4_uc001cdm.2_Silent_p.F235F|SNORA55_uc001cdo.1_5'Flank	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	235	RRM 3.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTAACTCACAAAGCCAAAGC	0.433000														65			66		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297941	167297941	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167297941A>G	uc002udu.2	-	13	2252	c.2122T>C	c.(2122-2124)Ttt>Ctt	p.F708L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	708					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAGGTAAAAAGGAATACAC	0.393000														22			17		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748916	42748916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:42748916C>T	uc002yzf.1	+	1	187	c.83C>T	c.(82-84)tCc>tTc	p.S28F	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	28					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAAATGAATTCCTTCCAGCAA	0.517000														58			21		0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108074059	108074059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108074059G>A	uc003dwz.3	+	4	930	c.516G>A	c.(514-516)tgG>tgA	p.W172*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.W108*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.W172*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.W172*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	172	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTATCACGTGGAAAATGGACA	0.373000														28			17		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139155319	139155319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:139155319C>T	uc003yuy.3	-	15	3745	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	FAM135B_uc003yux.3_Missense_Mutation_p.D1093N|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.D754N|FAM135B_uc003yvb.3_3'UTR	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1192								p.T1191T(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AATAACCGATCCGTCATAGTA	0.458000										HNSCC(54;0.14)				53			20		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129072803	129072803	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:129072803C>T	uc003kvb.1	+	22	3516	c.3516C>T	c.(3514-3516)taC>taT	p.Y1172Y	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1172	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGCCAGTGTACTGCCGAGTGA	0.468000														42			44		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891529	18891529	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:18891529C>T	uc001rdy.3	+	0	485	c.327C>T	c.(325-327)atC>atT	p.I109I	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	109					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GTCATGGTATCATTCAGAATG	0.388000														50			29		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35070248	35070248	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:35070248C>T	uc003jjm.3	-	6	1222	c.663G>A	c.(661-663)gcG>gcA	p.A221A	PRLR_uc003jjk.1_Silent_p.A150A|PRLR_uc003jjg.2_Silent_p.A221A|PRLR_uc003jjh.2_Silent_p.A221A|PRLR_uc003jji.2_Silent_p.A150A|PRLR_uc003jjj.2_Silent_p.A221A|PRLR_uc003jjl.4_Silent_p.A120A|PRLR_uc021xxl.1_Silent_p.A221A|PRLR_uc010iuw.1_Silent_p.A150A	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	221	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.A221E(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAATGAAGGTCGCTGGACTCC	0.403000														23			27		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030147	18030147	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:18030147C>T	uc021trm.1	+	4	4128	c.3909C>T	c.(3907-3909)ctC>ctT	p.L1303L	MYO15A_uc021trl.1_Silent_p.L1303L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1303	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCAAAATGCTCGATGCCAAAC	0.552000														77			122		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915670	126915670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:126915670G>A	uc003eji.1	+	1	382	c.142G>A	c.(142-144)Gga>Aga	p.G48R						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TACCTGCTTGGGAGCCCAGCC	0.632000														15			8		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48375124	48375124	+	Splice_Site	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48375124A>C	uc001rqu.3	-	37	2644	c.2463_splice	c.e37+1	p.P821_splice	COL2A1_uc009zkw.3_Splice_Site|COL2A1_uc001rqv.3_Splice_Site_p.P752_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	821	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCAGACACTCACCGGAGCGCC	0.657000														19			5		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956829	38956829	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38956829A>T	uc002oit.3	+	23	3099	c.2969A>T	c.(2968-2970)aAt>aTt	p.N990I	RYR1_uc002oiu.3_Missense_Mutation_p.N990I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	990	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGGCAGAAAATGGGCACAAC	0.657000														25			23		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176738746G>A	uc001gkz.3	+	15	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1443	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.E1443K(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453000														68			31		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38234401	38234401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:38234401G>A	uc001zjw.3	+	7	616	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E172K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E172K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	172						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAGTACCAGGAAACGTTGAA	0.368000														94			44		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424775	1424775	+	Silent	SNP	T	G	G	rs141777430		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1424775T>G	uc003boz.3	+	17	2583	c.2316T>G	c.(2314-2316)tcT>tcG	p.S772S	CNTN6_uc011asj.2_Silent_p.S700S|CNTN6_uc003bpa.3_Silent_p.S772S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	772	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCCACTGTCTCCCTTTGAAG	0.463000														64			28		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101520726	101520726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101520726C>T	uc010svm.1	+	26	3318	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	ANO4_uc001thw.2_Nonsense_Mutation_p.R881*|ANO4_uc001thx.2_Nonsense_Mutation_p.R916*|ANO4_uc001thy.2_Nonsense_Mutation_p.R436*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	916						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCTAAGGGATCGAATGAGAAG	0.438000										HNSCC(74;0.22)				47			29		0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40956392	40956392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:40956392G>A	uc002ibm.4	+	2	627	c.395G>A	c.(394-396)aGc>aAc	p.S132N	CNTD1_uc010wha.2_Missense_Mutation_p.S49N	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	132	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGCTGGCCAGCAAACTTTCC	0.473000														120			52		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1427442	1427442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1427442C>T	uc003boz.3	+	19	2932	c.2665C>T	c.(2665-2667)Ccc>Tcc	p.P889S	CNTN6_uc011asj.2_Missense_Mutation_p.P817S|CNTN6_uc003bpa.3_Missense_Mutation_p.P889S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	889	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGGACAGGGCCCTCAAGCCC	0.458000														136			58		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643249	1643249	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1643249G>A	uc009ycy.1	-	0	120	c.33C>T	c.(31-33)ggC>ggT	p.G11G	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	105						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagccagagccacagcccc	0.687000														73			43		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1776238	1776238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1776238C>T	uc001luc.2	-	5	858	c.725G>A	c.(724-726)gGg>gAg	p.G242E	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	242					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCTCACCCCCAGGCTGCGC	0.592000														65			29		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251088	19251088	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:19251088T>C	uc001mpm.3	-	9	2328	c.1806A>G	c.(1804-1806)agA>agG	p.R602R	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Silent_p.R602R	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	602					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTTGAGCCTCTTTCTCCAG	0.522000														87			51		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101486849	101486849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101486849C>T	uc001kqb.4	-	3	1075	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	COX15_uc001kqc.4_Missense_Mutation_p.R153Q|COX15_uc010qpj.2_Intron	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	153					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ACCCCACATTCGGTGTGAGTA	0.493000														45			17		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138522824	138522824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138522824G>A	uc011kql.2	-	19	5729	c.5680C>T	c.(5680-5682)Cct>Tct	p.P1894S	KIAA1549_uc011kqi.2_Missense_Mutation_p.P662S|KIAA1549_uc011kqk.2_Missense_Mutation_p.P678S|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1878S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1894						integral to membrane		p.P1894S(1)|p.P1828S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCCCGGAAGGAGCTGAGGGC	0.602000			O	BRAF	pilocytic astrocytoma									6			4		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56413429	56413429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56413429G>A	uc010ygg.2	-	8	2786	c.2761C>T	c.(2761-2763)Cgc>Tgc	p.R921C		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	921							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCATCTGGGCGACCCAAGGCC	0.547000														40			25		0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22429332	22429332	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:22429332C>T	uc003xbv.3	+	18	2185	c.1845C>T	c.(1843-1845)acC>acT	p.T615T	SORBS3_uc003xbw.4_Silent_p.T273T	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	615	Binds to SOS.|SH3 3.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TACACTGGACCCCGTGAGTAC	0.607000														71			24		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312208	31312208	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31312208C>A	uc001msv.3	-	6	1184	c.946G>T	c.(946-948)Gaa>Taa	p.E316*	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	316					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTCATTGTTTCTTTTCCCACT	0.323000														28			15		2.48551e-13	2.51018e-13	1	1	0
TMEM108	66000	broad.mit.edu	37	3	133098765	133098765	+	Silent	SNP	C	T	T	rs144699523	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:133098765C>T	uc003epi.3	+	3	480	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TMEM108_uc003eph.3_Silent_p.P70P|TMEM108_uc003epj.1_Silent_p.P70P|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	70	Pro-rich.					integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCCAATCCCGATGGACCCC	0.627000														120			66		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956168	48956168	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48956168C>A	uc002pjd.2	+	6	1460	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	KCNJ14_uc002pje.1_5'Flank	NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	409						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGCTGCTGTTCGTGCACCAGG	0.687000														46			35		2.2871e-25	2.33458e-25	1	1	0
MRC2	9902	broad.mit.edu	37	17	60754833	60754833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60754833C>T	uc002jad.3	+	11	2440	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	MRC2_uc010ddq.1_Non-coding_Transcript	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	680	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CACCAAACTCCGGTATTGCTA	0.662000														31			7		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71462722	71462722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71462722C>T	uc003hfl.3	+	2	192	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	31					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCAGTTCTTTCCTCAGCAATC	0.373000														36			17		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160091024	160091024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:160091024C>T	uc001fvc.3	+	2	292	c.160C>T	c.(160-162)Caa>Taa	p.Q54*	ATP1A2_uc001fvb.2_Nonsense_Mutation_p.Q54*|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	54					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Q54L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCGCAAATACCAAGTGGACCT	0.517000														242			109		0	0	1	0	0
C11orf10	746	broad.mit.edu	37	11	61557365	61557365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:61557365G>A	uc001nsf.3	-	2	197	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	FEN1_uc001nsg.3_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	Homo sapiens chromosome 11 open reading frame 10 (C11orf10), mRNA.	48						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(1)	6						TAGATATCACGAGTGTACTTG	0.542000														7			8		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171055732	171055732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171055732G>A	uc002ufy.3	+	1	160	c.17G>A	c.(16-18)gGa>gAa	p.G6E	MYO3B_uc002ufv.3_5'UTR|MYO3B_uc010fqb.1_Missense_Mutation_p.G6E|MYO3B_uc002ufz.3_Missense_Mutation_p.G6E|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_5'UTR	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	6					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CATCTGTATGGATTATTTCAC	0.393000														36			27		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194063009	194063009	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:194063009G>A	uc003fts.3	-	1	513	c.423C>T	c.(421-423)ttC>ttT	p.F141F	CPN2_uc021xix.1_Silent_p.F141F	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	141					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCAGGTGCTGGAAAAGACCCT	0.602000														16			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458032	179458032	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179458032G>C	uc021vsy.1	-	247	51424	c.51199C>G	c.(51199-51201)Cca>Gca	p.P17067A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10762A|TTN_uc021vta.1_Missense_Mutation_p.P10695A|TTN_uc021vtb.1_Missense_Mutation_p.P10570A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17994	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTGTATGGATGAATAGGA	0.408000														92			45		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999642	55999642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55999642C>T	uc010rjc.2	-	0	1020	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	340					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACATTTTTTTCATTGAGTCTT	0.333000														36			8		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326492	57326492	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57326492G>A	uc002qnu.2	-	6	3669	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I1077I|PEG3_uc002qnv.2_Silent_p.I1106I|PEG3_uc002qnw.2_Silent_p.I982I|PEG3_uc002qnx.2_Silent_p.I980I|PEG3_uc010etr.2_Silent_p.I1106I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1106					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1106I(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACATTCATAGATTTTGTCAT	0.522000														49			21		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390881	197390881	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:197390881C>T	uc001gtz.3	+	5	2132	c.1923C>T	c.(1921-1923)ggC>ggT	p.G641G	CRB1_uc010poz.2_Silent_p.G572G|CRB1_uc009wza.3_Silent_p.G529G|CRB1_uc010ppa.2_Splice_Site|CRB1_uc010ppb.2_Silent_p.G641G|CRB1_uc010ppc.1_Splice_Site|CRB1_uc010ppd.2_Silent_p.G122G|CRB1_uc001gub.1_Silent_p.G290G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	641	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTTTGTAGGCTGTCTCCAAG	0.428000														145			59		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350867	101350867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101350867C>T	uc010txj.1	-	0	318	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	MIR432_uc021sce.1_Non-coding_Transcript|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	87										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCTCTATTTCCTTACGTGGG	0.557000														24			20		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139369651	139369651	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139369651T>A	uc004chx.3	-	2	2726	c.2417A>T	c.(2416-2418)cAg>cTg	p.Q806L	SEC16A_uc004chv.4_Splice_Site_p.Q433_splice|SEC16A_uc004chw.3_Missense_Mutation_p.Q806L|SEC16A_uc010nbn.3_Missense_Mutation_p.Q806L|SEC16A_uc010nbo.1_Missense_Mutation_p.Q806L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	628					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGAACTCGCCTGGGACTGAAG	0.547000														11			17		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447424	73447424	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73447424C>T	uc001jrx.4	+	17	2391	c.2001C>T	c.(1999-2001)ccC>ccT	p.P667P	CDH23_uc001jry.3_Silent_p.P667P|CDH23_uc001jrz.3_Silent_p.P667P	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	669	Cadherin 6.				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						ACAACCCTCCCACCTTCAGCA	0.612000														43			16		0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113607479	113607479	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:113607479G>A	uc001poe.3	-	14	2179	c.2082C>T	c.(2080-2082)ccC>ccT	p.P694P	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	694					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAAATACTTGGGGTCCTTCAT	0.378000														100			33		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108684589	108684589	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:108684589C>T	uc022cch.1	-	5	1777	c.1692G>A	c.(1690-1692)gcG>gcA	p.A564A	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.A564A	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	564	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.A564A(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCTCATAAATCGCTATGTTGG	0.403000														23			70		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372394	55372394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55372394G>A	uc003xsb.4	+	1	1288	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	362	Sox C-terminal.				Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGACCGCACGGAATTTGAACA	0.687000														43			20		0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346543	71346543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71346543G>A	uc011cat.2	+	3	370	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	MUC7_uc011cau.2_Missense_Mutation_p.E28K|MUC7_uc003hfj.3_Missense_Mutation_p.E28K	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	28						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAGGGATCATGAACTACGTCA	0.398000														99			31		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153579321	153579321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153579321G>A	uc004fkk.2	-	43	7361	c.7112C>T	c.(7111-7113)cCc>cTc	p.P2371L	FLNA_uc011mzn.1_Missense_Mutation_p.P504L|FLNA_uc010nuu.1_Missense_Mutation_p.P2363L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2371					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCTGAGGGGCTGTGCAC	0.627000														26			117		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805003	54805003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:54805003C>T	uc003pck.3	+	4	1350	c.1234C>T	c.(1234-1236)Cca>Tca	p.P412S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	412										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAATAATCCACCTGGTAA	0.458000														72			24		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2694603	2694603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2694603G>A	uc009zdu.1	+	16	2714	c.2401G>A	c.(2401-2403)Gag>Aag	p.E801K	CACNA1C_uc001qkc.2_Missense_Mutation_p.E801K|CACNA1C_uc001qjz.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkd.2_Missense_Mutation_p.E801K|CACNA1C_uc001qke.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkf.2_Missense_Mutation_p.E801K|CACNA1C_uc009zdw.1_Missense_Mutation_p.E801K|CACNA1C_uc001qkg.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkh.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkl.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkj.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkk.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkn.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkm.2_Missense_Mutation_p.E801K|CACNA1C_uc001qko.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkp.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkq.2_Missense_Mutation_p.E801K|CACNA1C_uc001qku.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkr.2_Missense_Mutation_p.E801K|CACNA1C_uc001qks.2_Missense_Mutation_p.E801K|CACNA1C_uc001qkt.2_Missense_Mutation_p.E801K|CACNA1C_uc009zdv.1_Missense_Mutation_p.E798K|CACNA1C_uc001qkb.2_Missense_Mutation_p.E801K|CACNA1C_uc001qka.1_Missense_Mutation_p.E336K|CACNA1C_uc001qki.1_Missense_Mutation_p.E537K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	801					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAATCCAAGGAGGAGAAGAT	0.552000														13			5		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673270	54673270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54673270C>T	uc010erf.3	-	2	572	c.440G>A	c.(439-441)tGg>tAg	p.W147*	TMC4_uc002qdo.3_Nonsense_Mutation_p.W141*	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	147						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTTCAGTGTCCACGCCCAGGG	0.642000														60			38		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55797981	55797981	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55797981G>A	uc010riw.2	+	0	87	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CACTGTTCTTGGTATTCCTTC	0.328000														35			15		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633223	32633223	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32633223C>T	uc003zrg.1	-	0	2445	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	785					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTGTCTTGTCCGAATGATCA	0.458000														124			36		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681796	30681796	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30681796G>A	uc003nrg.4	-	2	741	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_Intron|MDC1_uc003nrh.1_Intron|MDC1_uc003nri.2_Silent_p.L101L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	101	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGGTCTCAGGATTTGAGTA	0.502000								Other conserved DNA damage response genes						65			31		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400951	89400951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:89400951G>A	uc010upo.1	+	11	5509	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	ACAN_uc010upp.1_Missense_Mutation_p.G1712E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1712					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCTTCAGGAACTGAACTC	0.537000														189			82		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43662611	43662611	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:43662611C>T	uc004dfz.4	-	3	496	c.320G>A	c.(319-321)tGg>tAg	p.W107*	MAOB_uc011mkx.2_Nonsense_Mutation_p.W91*|MAOB_uc011mky.2_Nonsense_Mutation_p.W91*	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	107					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	AATTGGATTCCATACAGGTGG	0.368000														20			34		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10420054	10420054	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10420054G>A	uc003bvt.3	-	9	1522	c.1083C>T	c.(1081-1083)ccC>ccT	p.P361P	ATP2B2_uc003bvv.3_Silent_p.P316P|ATP2B2_uc003bvw.3_Silent_p.P316P|ATP2B2_uc010hdo.3_Silent_p.P66P	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	361					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACTCTTGAGGGGCTGCATCT	0.607000														79			35		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024667	45024667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45024667C>T	uc010ejn.1	-	4	887	c.871G>A	c.(871-873)Ggc>Agc	p.G291S	CEACAM20_uc010ejo.1_Missense_Mutation_p.G291S|CEACAM20_uc010ejp.1_Missense_Mutation_p.G291S|CEACAM20_uc010ejq.1_Missense_Mutation_p.G291S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	291	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGGGCTGGCCACTTAGGAAC	0.572000														65			14		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132683752	132683752	+	Silent	SNP	C	T	T	rs61745417		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:132683752C>T	uc001ukc.4	-	8	1580	c.1464G>A	c.(1462-1464)gcG>gcA	p.A488A	GALNT9_uc009zyr.3_Silent_p.A262A|GALNT9_uc001ukb.3_Silent_p.A345A|GALNT9_uc001uka.3_Silent_p.A122A	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	488	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGTAGAGGATCGCCCGGTCGC	0.647000														51			40		0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49456141	49456141	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:49456141T>C	uc003ozh.1	+	6	643	c.554T>C	c.(553-555)aTt>aCt	p.I185T		NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN	Homo sapiens centromere protein Q (CENPQ), mRNA.	185					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAAATTCAGATTCTGGCAAGT	0.313000														63			20		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990302	63990302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:63990302C>T	uc003peh.3	-	3	1188	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	385					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.W384S(1)|p.G385R(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTCATTGTATCCCCATGTTGT	0.463000														113			55		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347604	140347604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140347604C>T	uc003lii.3	+	0	1858	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.S418F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	418	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGGAAACTCCTATACACTG	0.582000														99			14		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409647	130409647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:130409647C>T	uc004ewe.4	-	15	3287	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R	IGSF1_uc004ewd.3_Missense_Mutation_p.G997R|IGSF1_uc022cdv.1_Missense_Mutation_p.G988R|IGSF1_uc004ewf.2_Missense_Mutation_p.G977R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	997	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATCCTACTCCATGGACCGGC	0.517000														36			74		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33503559	33503559	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:33503559C>T	uc002nuf.3	-	4	528	c.462G>A	c.(460-462)ctG>ctA	p.L154L	RHPN2_uc010xro.2_Silent_p.L3L|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	154	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTACTTGTCTCAGATCCATAA	0.408000														37			44		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026348	79026348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026348C>T	uc003kgc.3	+	1	1832	c.1760C>T	c.(1759-1761)tCt>tTt	p.S587F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	587	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAATTGCATCTGTTTCTACT	0.423000														204			37		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859576	131859576	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131859576G>A	uc003vra.4	-	20	4207	c.3978C>T	c.(3976-3978)ttC>ttT	p.F1326F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1326						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAATTCCTGGGAACAGCACCC	0.562000														188			57		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640111	36640111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36640111G>A	uc002xhl.3	-	2	2317	c.2108C>T	c.(2107-2109)tCt>tTt	p.S703F	TTI1_uc002xhm.3_Missense_Mutation_p.S703F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	703							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGATTTAAAGAGATCCCATT	0.498000														58			26		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554710	4554710	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4554710G>A	uc001qmr.1	-	0	71	c.27C>T	c.(25-27)atC>atT	p.I9I		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	9					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			GGGACATAGTGATGAACAGTT	0.587000														23			19		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968324	64968324	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:64968324A>G	uc001jmn.3	-	9	3405	c.3105T>C	c.(3103-3105)ttT>ttC	p.F1035F	JMJD1C_uc001jml.3_Silent_p.F816F|JMJD1C_uc001jmm.3_Silent_p.F747F|JMJD1C_uc010qiq.2_Silent_p.F853F|JMJD1C_uc009xpi.3_Silent_p.F853F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Silent_p.F72F	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1035					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTTAGTTGTAAAGGGAGCAA	0.418000														98			55		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:131916288C>T	uc003ytd.4	-	7	1897	c.1641_splice	c.e7-1	p.G547_splice	ADCY8_uc010mds.3_Splice_Site_p.G547_splice	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	547					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G547G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGAATCCTCCTGTGTGTAG	0.458000										HNSCC(32;0.087)				147			51		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21734066	21734066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:21734066G>A	uc001unt.3	-	5	1015	c.890C>T	c.(889-891)cCa>cTa	p.P297L	SKA3_uc001unu.3_Missense_Mutation_p.P297L|SKA3_uc001unv.3_Missense_Mutation_p.P215L	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	297					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGTAGATGGAATTTTCAA	0.358000														61			70		0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31473608	31473608	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31473608C>T	uc003ntn.4	+	1	401	c.285C>T	c.(283-285)gaC>gaT	p.D95D	MICB_uc011dnm.2_Silent_p.D63D|MICB_uc021yuq.1_Silent_p.D63D|MICB_uc003nto.4_Silent_p.D95D	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	95					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATGGGCAAGACCTCAGGAGGA	0.557000														11			7		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249145	140249145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140249145C>T	uc003lia.2	+	0	1315	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.P153S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCGTTTTCCACTAGAGGG	0.448000														75			85		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348792	38348792	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38348792C>T	uc003cib.2	+	1	637	c.564C>T	c.(562-564)atC>atT	p.I188I	SLC22A14_uc010hhc.1_Silent_p.I188I|SLC22A14_uc003cia.2_Silent_p.I188I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	188						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGCACAGATCATGTTCATGG	0.552000														112			55		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706956	96706956	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:96706956G>A	uc010avm.1	+	2	487	c.291G>A	c.(289-291)ggG>ggA	p.G97G	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.G70G|BDKRB2_uc001yfg.2_Silent_p.G97G	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	97					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCTACCTGGGGAACCTGGCCG	0.607000														92			86		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227333254	227333254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:227333254G>A	uc001hqr.3	-	7	2022	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L	CDC42BPA_uc001hqs.3_Missense_Mutation_p.P360L|CDC42BPA_uc009xes.3_Missense_Mutation_p.P360L|CDC42BPA_uc010pvs.2_Missense_Mutation_p.P360L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	360	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACTAACTTCTGGAATATAAGG	0.358000														61			46		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783968	9783968	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:9783968T>C	uc003gmb.4	+	0	711	c.315T>C	c.(313-315)ggT>ggC	p.G105G		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	105					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTGGCCGGTTACTGGCCCT	0.612000														26			23		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079255	1079255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:1079255G>A	uc002qwq.3	+	1	253	c.124G>A	c.(124-126)Gac>Aac	p.D42N	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Missense_Mutation_p.D42N	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	42					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAATGCCTATGACATCCGGCT	0.483000														59			26		0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230450637	230450637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:230450637G>A	uc002vpv.3	-	3	931	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	DNER_uc010zly.1_5'UTR	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	262					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCTGAAGCCTGAAGGGGGGTC	0.522000														67			26		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374610	163374611	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:163374610_163374611GG>AA	uc002uch.2	-	3	750_751	c.521_522CC>TT	c.(520-522)tcc>tTT	p.S174F	KCNH7_uc002uci.3_Missense_Mutation_p.S174F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	174					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTTGTGGTAAGGACTGCTTTCT	0.401000														55			24		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221640	43221640	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:43221640C>T	uc002yzq.1	-	30	4395	c.4284G>A	c.(4282-4284)caG>caA	p.Q1428Q	PRDM15_uc002yzo.3_Silent_p.Q1099Q|PRDM15_uc002yzp.3_Silent_p.Q1119Q|PRDM15_uc002yzr.1_Silent_p.Q1119Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGGGTGGATCTGGACGTCAT	0.582000														50			25		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246173	145246173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:145246173G>A	uc003lns.1	-	1	455	c.455C>T	c.(454-456)gCt>gTt	p.A152V		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	152										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCTTCCTCAGCCTCCTCTTC	0.443000														76			12		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445715	27445715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27445715G>A	uc002dor.2	+	3	711	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	IL21R_uc002doq.2_Missense_Mutation_p.V33I|IL21R_uc002dos.2_Missense_Mutation_p.V33I	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	33					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCTCCAGACGGTCATCTGCAT	0.632000			T	BCL6	NHL									57			10		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082893	11082893	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11082893G>A	uc003jfa.1	-	15	2848	c.2703C>T	c.(2701-2703)ctC>ctT	p.L901L	CTNND2_uc010itt.2_Silent_p.L810L|CTNND2_uc011cmy.1_Silent_p.L564L|CTNND2_uc011cmz.1_Silent_p.L468L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.L493L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	901					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGTCTATTCGGAGCAGCTCCA	0.552000														66			13		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997056	62997056	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:62997056G>A	uc001nwr.1	-	0	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.F23F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	23					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ACATTATAAGGAAAACCATCT	0.468000														34			18		0	0	1	0	0
PTP4A3	11156	broad.mit.edu	37	8	142441072	142441072	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:142441072G>A	uc003ywg.1	+	4	784	c.450G>A	c.(448-450)gaG>gaA	p.E150E	PTP4A3_uc003ywh.1_Silent_p.E125E|PTP4A3_uc010met.1_Missense_Mutation_p.R64K	NM_032611	NP_116000	O75365	TP4A3_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA.	150						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCTACCTGGAGAAATACCGGC	0.597000														49			46		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566853	4566853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4566853C>T	uc010qyf.2	+	0	433	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145G(2)|p.R145H(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTGGTGGGTCGTTTGGGGCT	0.522000														48			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064771	9064771	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9064771C>A	uc002mkp.3	-	2	22879	c.22675G>T	c.(22675-22677)Gca>Tca	p.A7559S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7561	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGTGTTTGCTTCTGTGGCT	0.493000														44			43		4.64027e-19	4.71215e-19	1	1	0
F5	2153	broad.mit.edu	37	1	169510044	169510044	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:169510044G>A	uc001ggg.1	-	12	4429	c.4284C>T	c.(4282-4284)tcC>tcT	p.S1428S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1428	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGGGGAAAGGGACATCTGAC	0.527000														62			27		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370324	65370324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65370324G>A	uc010uis.2	+	0	1171	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	391						cytoplasm				lung(1)|prostate(1)|skin(1)	3						CAACAGCAAGGGAGCGCTCTT	0.657000														38			18		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117175447	117175447	+	Missense_Mutation	SNP	G	A	A	rs121908804		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:117175447G>A	uc003vjd.3	+	5	857	c.725G>A	c.(724-726)aGa>aAa	p.R242K	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	242	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGGCTAGGGAGAATGATGATG	0.428000									Cystic Fibrosis					76			28		0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6310636	6310636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6310636G>A	uc001amp.2	-	4	1288	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATAGTCCAGGGAGCGCTCCAA	0.617000														10			6		0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415681	30415681	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30415681T>A	uc003agv.4	+	16	2361	c.2033T>A	c.(2032-2034)cTt>cAt	p.L678H	MTMR3_uc003agu.4_Missense_Mutation_p.L678H|MTMR3_uc003agw.4_Missense_Mutation_p.L678H	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	678					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGTGCCGAGCTTTCTGTTGCA	0.637000														80			50		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201692	24201692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:24201692G>A	uc021oij.1	-	0	416	c.416C>T	c.(415-417)cCt>cTt	p.P139L	CNR2_uc001bif.3_Missense_Mutation_p.P139L	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	139					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TTTGTAGGAAGGTGGATAGCG	0.582000														73			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22673403	22673403	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:22673403C>T	uc021wml.1	+	34		c.3067C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GAACCCTCCCCGGTATCTCCT	0.542000														70			43		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823814	97823814	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:97823814C>A	uc003upd.2	+	10	4330	c.4037C>A	c.(4036-4038)cCc>cAc	p.P1346H		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1346					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACCCACTGCCCGAGGACTGG	0.542000														98			41		2.43468e-25	2.48437e-25	1	1	0
MED12L	116931	broad.mit.edu	37	3	151112471	151112471	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:151112471C>A	uc003eyp.3	+	36	5660	c.5531C>A	c.(5530-5532)tCc>tAc	p.S1844Y	MED12L_uc011bnz.2_Missense_Mutation_p.S1704Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1844					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGCAGGCTCCTTTGTCCCA	0.478000														57			154		4.44899e-93	4.56823e-93	1	1	0
POLR3G	10622	broad.mit.edu	37	5	89781431	89781431	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89781431T>C	uc003kjq.3	+	1	247	c.47T>C	c.(46-48)aTt>aCt	p.I16T	POLR3G_uc011cuc.2_Missense_Mutation_p.I16T	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	16					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		ACCTTTAATATTGAGGCTGTT	0.393000														48			34		0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45868998	45868998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45868998C>T	uc010rgn.2	+	0	42	c.20C>T	c.(19-21)gCc>gTc	p.A7V	CRY2_uc009ykw.3_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GTCCACGTCGCCTACCGGGGC	0.731000														15			7		0	0	1	0	0
CDC25A	993	broad.mit.edu	37	3	48222259	48222259	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48222259C>G	uc003csh.1	-	5	865	c.501G>C	c.(499-501)gaG>gaC	p.E167D	CDC25A_uc003csi.1_Intron|CDC25A_uc021wxk.1_Intron	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	167					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GATCTTTACCCTCCTGGAGTC	0.483000														102			57		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416132	86416133	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86416132_86416133CC>TT	uc003uid.3	+	2	2123_2124	c.1024_1025CC>TT	c.(1024-1026)ccc>TTc	p.P342F	GRM3_uc010lef.3_Missense_Mutation_p.P340F|GRM3_uc010leg.3_Missense_Mutation_p.P214F|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	342					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GAGCCTCAACCCCTACAACAAC	0.609000														32			4		0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300165	161300165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:161300165G>A	uc010jiw.3	+	5	766	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	GABRA1_uc010jix.3_Missense_Mutation_p.E100K|GABRA1_uc010jiy.3_Missense_Mutation_p.E100K|GABRA1_uc003lyx.4_Missense_Mutation_p.E100K|GABRA1_uc010jiz.3_Missense_Mutation_p.E100K|GABRA1_uc010jja.3_Missense_Mutation_p.E100K|GABRA1_uc010jjb.3_Missense_Mutation_p.E100K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	100					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGGAAGGATGAAAGGTTAAA	0.358000														104			9		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337652	19337652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19337652C>T	uc002nlz.3	+	6	1529	c.1430C>T	c.(1429-1431)cCt>cTt	p.P477L	NCAN_uc010ecc.1_Missense_Mutation_p.P41L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	477					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GACCCTATGCCTAGGAGAAGG	0.662000														41			6		0	0	1	0	0
MMP20	9313	broad.mit.edu	37	11	102465482	102465482	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102465482G>A	uc001phc.3	-	6	973	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	320	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.I319V(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GCCGTCTCCAGAAAATCCTAT	0.418000														24			13		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127671155	127671155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:127671155G>A	uc003kuu.3	-	28	4278	c.3839C>T	c.(3838-3840)tCg>tTg	p.S1280L	FBN2_uc003kuv.2_Missense_Mutation_p.S1247L	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1280	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.S1280L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCTGCACACGATCTCCCATC	0.433000														141			26		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197189747	197189747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197189747G>A	uc002utm.1	-	5	881	c.698C>T	c.(697-699)tCt>tTt	p.S233F	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	233	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GATGATAGTAGACCGTCTCTC	0.512000														185			81		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799100	54799100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:54799100G>A	uc001sga.3	-	11	1143	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	359					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACCTCCTGAGGCCGCCCGTCA	0.632000														37			14		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558273	53558273	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:53558273G>A	uc021onn.1	-	6	1152	c.984C>T	c.(982-984)atC>atT	p.I328I	SLC1A7_uc021onm.1_Silent_p.I256I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I328I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	328						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGATGCCACGGATGAAGACGA	0.632000														32			21		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064407	7064407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7064407G>A	uc001mfb.1	+	3	1473	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	384	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGCAAATGGAGAAGGGTGG	0.468000														84			47		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475591	42475591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42475591G>A	uc002igw.2	-	7	4073	c.3854C>T	c.(3853-3855)cCc>cTc	p.P1285L	GPATCH8_uc002igv.2_Missense_Mutation_p.P1207L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P1207L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1285						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATCCCCACTGGGAGGTGCATA	0.582000														173			102		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156926622	156926622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156926622C>T	uc003lwz.3	-	12	1436	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	ADAM19_uc003lww.2_Missense_Mutation_p.G186R|ADAM19_uc003lwy.3_Missense_Mutation_p.G52R|ADAM19_uc011ddr.1_Missense_Mutation_p.G384R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	453	Disintegrin.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTCCGCCCCCGGCCTCAGG	0.632000														14			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181170	140181170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140181170G>A	uc003lhf.2	+	0	388	c.388G>A	c.(388-390)Gcg>Acg	p.A130T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.A130T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	145	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGACAACGCGCCAGTTTT	0.547000														70			72		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749452	196749452	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196749452G>A	uc002utj.4	-	34	5721	c.5620C>T	c.(5620-5622)Cga>Tga	p.R1874*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1874					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTAGTTCTCGAAGAATCTTA	0.383000														42			27		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550496	8550496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8550496G>A	uc010dwe.3	+	13	1264	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	HNRNPM_uc010xke.1_Missense_Mutation_p.G341E|HNRNPM_uc010dwd.3_Missense_Mutation_p.G356E|HNRNPM_uc002mka.3_Missense_Mutation_p.G260E|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	395	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGTGGAGGTGGAGGAAGCGTC	0.622000														95			84		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225477	51225477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:51225477G>A	uc001jij.3	-	6	1631	c.1505C>T	c.(1504-1506)cCa>cTa	p.P502L	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Missense_Mutation_p.P417L|AGAP8_uc001jik.3_Missense_Mutation_p.P486L|AGAP8_uc010qgy.2_Missense_Mutation_p.P525L|AGAP8_uc021pqg.1_Missense_Mutation_p.P502L|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	502	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						GAGCTCAACTGGCCAGTCATC	0.527000														135			70		0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50152983	50152983	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50152983C>T	uc003cyg.3	+	20	2137	c.1962C>T	c.(1960-1962)cgC>cgT	p.R654R	RBM5_uc011bdj.2_Silent_p.R598R|RBM5_uc011bdk.2_Silent_p.R482R|RBM5_uc003cyh.3_Silent_p.R111R	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	654	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCCGGCGCCAGTTCCCGA	0.572000														84			61		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100789163	100789163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100789163C>T	uc003yiv.3	+	40	7594	c.7483C>T	c.(7483-7485)Cac>Tac	p.H2495Y	VPS13B_uc003yiw.3_Missense_Mutation_p.H2470Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2495					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTTGTCATCACCTTGACCA	0.418000														135			83		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210859	35210859	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35210859G>A	uc003okf.1	+	14	1761	c.1755G>A	c.(1753-1755)aaG>aaA	p.K585K	SCUBE3_uc003okg.1_Silent_p.K584K|SCUBE3_uc003okh.1_Silent_p.K472K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	585					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GATCCCTGAAGATGCTCAGAA	0.622000														69			34		0	0	1	0	0
GRASP	160622	broad.mit.edu	37	12	52408567	52408568	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52408567_52408568CC>TT	uc001rzo.1	+	7	828_829	c.772_773CC>TT	c.(772-774)ccc>TTc	p.P258F	GRASP_uc001rzp.1_Missense_Mutation_p.P115F	NM_181711	NP_859062	Q7Z6J2	GRASP_HUMAN	Homo sapiens GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein (GRASP), mRNA.	258	Interaction with PSCD3 (By similarity).					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGCTCGCTGCCCTTCGGGCCT	0.738000														1			5		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397556	13397556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:13397556G>A	uc002mwy.3	-	19	3550	c.3314C>T	c.(3313-3315)cCc>cTc	p.P1105L	CACNA1A_uc010dzc.2_Missense_Mutation_p.P631L|CACNA1A_uc010xnd.2_Missense_Mutation_p.P1108L|CACNA1A_uc021ups.1_Missense_Mutation_p.P1105L|CACNA1A_uc010xne.2_Missense_Mutation_p.P1108L|CACNA1A_uc010dze.2_Missense_Mutation_p.P1105L|CACNA1A_uc021upt.1_Missense_Mutation_p.P1106L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1106			G -> S (in dbSNP:rs16027).		cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCCAGCATGGGGCCGGGGTC	0.726000														12			11		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65994202	65994202	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:65994202G>A	uc002api.3	-	17	2842	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L	DENND4A_uc002aph.3_Silent_p.L819L|DENND4A_uc002apj.3_Silent_p.L819L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTGTCCACAGAGTTGCATAA	0.363000														116			48		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282919	5282919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5282919C>T	uc010zqw.2	-	1	930	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	PROKR2_uc010zqx.2_Missense_Mutation_p.E308K|PROKR2_uc010zqy.2_Missense_Mutation_p.E308K	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	308						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TAGTGCTTTTCCTTCACGAAC	0.532000										HNSCC(71;0.22)				98			59		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24530369	24530369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24530369C>T	uc002zzi.1	+	28	4860	c.4733C>T	c.(4732-4734)aCc>aTc	p.T1578I	CABIN1_uc021wnc.1_Missense_Mutation_p.T1528I|CABIN1_uc002zzj.1_Missense_Mutation_p.T1499I|CABIN1_uc002zzl.2_Missense_Mutation_p.T1578I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1578					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGGAACAAGACCAATTTCTTC	0.542000														31			22		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44253737	44253737	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:44253737G>A	uc003oxi.2	-	2	966	c.810C>T	c.(808-810)tcC>tcT	p.S270S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	270										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(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)			CGGCTGCCAAGGAGAGGCAGT	0.582000														57			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9049034	9049034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9049034G>A	uc002mkp.3	-	4	32801	c.32597C>T	c.(32596-32598)cCa>cTa	p.P10866L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10868	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGGAGTTGGAACAGCTGA	0.458000														46			46		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100052902	100052902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100052902G>A	uc003hun.3	-	5	672	c.596C>T	c.(595-597)tCg>tTg	p.S199L	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.S218L	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	199					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AGCACAAGTCGAACCAGGGGT	0.458000														36			29		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74279225	74279225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:74279225C>T	uc003hgs.4	+	7	1005	c.932C>T	c.(931-933)tCc>tTc	p.S311F	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.S119F|ALB_uc011cbf.2_Missense_Mutation_p.S201F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	311	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TTGGAAAAATCCCACTGCATT	0.403000														78			50		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528639	57528639	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57528639C>T	uc011kdi.1	+	3	584	c.472C>T	c.(472-474)Cag>Tag	p.Q158*		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACATTTCAGACTCATAA	0.333000														6			6		0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2910422	2910423	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2910422_2910423CC>TT	uc001qkz.3	+	8	1370_1371	c.1172_1173CC>TT	c.(1171-1173)acc>aTT	p.T391I		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	391	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GCCGCCAAGACCCAGCTGGCTG	0.594000														104			44		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193774	152193774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152193774C>T	uc001ezt.1	-	2	407	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	111					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTCTTGTTCCTCTTGGTGC	0.418000														54			55		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634131	121634131	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121634131T>C	uc003eep.2	+	5	739	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L	SLC15A2_uc011bjn.1_Silent_p.L165L	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	196					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGCAGGGAGCTTGATTTCTAC	0.453000														69			28		0	0	1	0	0
WASH1	100287171	broad.mit.edu	37	16	66966	66966	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66966G>A	uc002cfg.1	-	4	1329	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	211					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCATCAAACAGCTTCTCCTCT	0.577000														51			9		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193174929	193174929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:193174929C>T	uc003ftd.3	-	15	1883	c.1775G>A	c.(1774-1776)gGa>gAa	p.G592E	ATP13A4_uc003fte.1_Missense_Mutation_p.G592E|ATP13A4_uc011bsr.1_Missense_Mutation_p.G63E|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	592					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GATTGCAATTCCTTCCACTGG	0.473000														47			99		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54362369	54362369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:54362369C>T	uc003hag.4	-	5	1427	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.E295K|LNX1_uc003hah.4_Intron	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	391	PDZ 2.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCAAGCTGCTCCTCGGGGCTA	0.522000														74			60		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71757208	71757209	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:71757208_71757209GG>AA	uc003kce.1	-	1	301_302	c.115_116CC>TT	c.(115-117)ccc>TTc	p.P39F		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGTCTTTGGGGAGCCTTTCCC	0.574000														17			18		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650179	232650179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:232650179C>T	uc001hvg.3	-	0	1065	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	303					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E303K(2)|p.H302H(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGAAAGTTTCGTGCTCACTT	0.493000														36			19		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123834984	123834984	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:123834984A>C	uc010tap.2	-	0	5	c.5T>G	c.(4-6)gTg>gGg	p.V2G	SBNO1_uc010tao.2_Missense_Mutation_p.V2G|SBNO1_uc010taq.2_5'UTR|SBNO1_uc001ueu.2_Missense_Mutation_p.V2G|SBNO1_uc001uet.2_Missense_Mutation_p.V2G|SBNO1_uc001uev.2_Missense_Mutation_p.V2G|SBNO1_uc009zxy.1_Missense_Mutation_p.V2G	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	2							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CCCTGGCTCCACCATCTTTAA	0.363000														189			103		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306903	129306903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:129306903G>A	uc001qfc.4	+	1	495	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	149										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CATGGGCCTGGAGAAGAAATT	0.607000														12			9		0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54278258	54278258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:54278258G>A	uc002lgg.3	-	6	1405	c.806C>T	c.(805-807)cCa>cTa	p.P269L	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Missense_Mutation_p.P269L|TXNL1_uc002lgj.1_Missense_Mutation_p.P269L	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	269	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TGCCTGGACTGGAGTACCAAT	0.279000														36			28		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408790	82408790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:82408790C>T	uc001dit.4	+	5	716	c.535C>T	c.(535-537)Cgt>Tgt	p.R179C	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R179C|LPHN2_uc001div.3_Missense_Mutation_p.R179C|LPHN2_uc009wcd.3_Missense_Mutation_p.R179C	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	179	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R179C(3)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCCCTATCGTACCGATAC	0.398000														42			35		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104138999	104139000	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104138999_104139000CC>TT	uc001tjw.3	+	56	6266_6267	c.6080_6081CC>TT	c.(6079-6081)tcc>tTT	p.S2027F	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2027					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATCACGGGCTCCGGGCAGTGCC	0.589000														38			16		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79295384	79295384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79295384C>T	uc003hlb.2	+	24	3570	c.3130C>T	c.(3130-3132)Cat>Tat	p.H1044Y	FRAS1_uc003hkw.3_Missense_Mutation_p.H1044Y	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1043					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTTGCAGATCATGCAAAGCA	0.507000														81			48		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70896078	70896078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70896078C>T	uc002ezr.3	-	68	11798	c.11647G>A	c.(11647-11649)Gag>Aag	p.E3883K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3884										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGGAACCCTCGGCCCAGTGG	0.562000														34			5		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178415981	178415981	+	Missense_Mutation	SNP	C	T	T	rs5019552		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:178415981C>T	uc003mjr.3	-	5	1488	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	GRM6_uc010jla.1_Missense_Mutation_p.D20N|GRM6_uc003mjs.1_Missense_Mutation_p.D57N	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	437					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ATCCGCCCATCAGTGGGTTCC	0.627000														11			29		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009799	46009799	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46009799T>C	uc011bal.1	-	6	1139	c.1027A>G	c.(1027-1029)Atg>Gtg	p.M343V	FYCO1_uc003cpb.4_Missense_Mutation_p.M343V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	343					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GGCTGCAGCATGGACTCCAGC	0.602000														98			33		0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379218	114379218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:114379218G>A	uc003pwg.4	-	1	276	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.R82C	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	82					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCATGGAGGCGAACCTGCTCC	0.597000														51			24		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197118738	197118738	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197118738C>T	uc002utm.1	-	18	3618	c.3435G>A	c.(3433-3435)gaG>gaA	p.E1145E	HECW2_uc002utl.1_Silent_p.E789E	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1145					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACGACATTATCTCTTCTTCAA	0.493000														65			33		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506958	84506958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:84506958C>T	uc002bjz.4	+	6	942	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.P240S|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.P240S	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	240						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACACGTTTCTCCTGAAAAAAG	0.423000														33			29		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115341615	115341615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:115341615C>T	uc003kro.3	+	12	2208	c.2044C>T	c.(2044-2046)Cct>Tct	p.P682S	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	682					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GCAGGCGATTCCTGTTATTCA	0.363000														30			9		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48148370	48148370	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:48148370A>C	uc003gxz.3	-	11	1144	c.1053T>G	c.(1051-1053)aaT>aaG	p.N351K		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	351					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGTGGGTGCATTCTTCCCTT	0.398000														132			37		0	0	1	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008626	142008626	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142008626G>A	uc003vxf.3	+	1	148	c.99G>A	c.(97-99)caG>caA	p.Q33Q	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGTCACACAGATGGGAAACG	0.423000														62			10		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98524852	98524852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:98524852C>T	uc003upp.3	+	22	3247	c.3038C>T	c.(3037-3039)cCa>cTa	p.P1013L	TRRAP_uc011kis.2_Missense_Mutation_p.P1013L|TRRAP_uc003upr.3_Missense_Mutation_p.P705L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1013					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGACACTCCAGCCCGGAAG	0.537000														103			31		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170315	207170315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207170315G>A	uc002vbp.2	+	4	1313	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	355							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGCCTTTTGGGAACAGAAGTG	0.388000														36			11		0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30198725	30198725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30198725G>A	uc010bzq.3	+	6	1094	c.659G>A	c.(658-660)gGg>gAg	p.G220E	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Missense_Mutation_p.G220E|CORO1A_uc002dwx.3_Missense_Mutation_p.G114E|CORO1A_uc002dwy.1_Missense_Mutation_p.G64E|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	220					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCCACGAGGGGACCCGGCCC	0.667000														35			30		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18613844	18613844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:18613844G>A	uc002znw.1	+	3	1660	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	TUBA8_uc002znv.2_Missense_Mutation_p.D431N|TUBA8_uc021wkt.1_Missense_Mutation_p.D365N	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	431					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGGAGAAGGATTATGAAGA	0.458000														69			43		0	0	1	0	0
SPANXN3	139067	broad.mit.edu	37	X	142605209	142605209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:142605209G>A	uc004fbw.3	-	0	99	c.11C>T	c.(10-12)cCa>cTa	p.P4L		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	4										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGAAGTTGGCTGTTCCAT	0.463000														28			101		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250448	177250448	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177250448C>T	uc001glf.3	+	7	2448	c.2136C>T	c.(2134-2136)tcC>tcT	p.S712S	FAM5B_uc001glg.3_Silent_p.S607S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	712						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTCAAGGTTCCCAGGACTCTG	0.517000														91			59		0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527505	51527506	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51527505_51527506GG>AA	uc002pvd.1	-	3	466_467	c.354_355CC>TT	c.(352-357)acccgg>acTTgg	p.R119W	KLK11_uc002pvc.4_Missense_Mutation_p.R87W|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Missense_Mutation_p.R112W|KLK11_uc002pvf.1_Missense_Mutation_p.R87W|KLK11_uc010eom.3_3'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	119	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GTGGCTGTCCGGGTCTGCTCAC	0.589000														105			28		0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028043	38028043	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:38028043C>T	uc003atc.3	+	14	1956	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	GGA1_uc003ate.3_Silent_p.F519F|GGA1_uc003atd.3_Silent_p.F436F|GGA1_uc003atf.3_Silent_p.F450F|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	523	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCACGGCTTCCGCATCCTCT	0.652000														60			46		0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	212002626	212002626	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212002626A>G	uc001hiu.3	-	1	826	c.13T>C	c.(13-15)Ttg>Ctg	p.L5L	LPGAT1_uc001hiv.3_Silent_p.L5L	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA.	5					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GCTTCTTCCAAAGTTATAGCC	0.438000														112			65		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13379373	13379373	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:13379373G>A	uc003bxv.1	-	25	3599	c.3516C>T	c.(3514-3516)atC>atT	p.I1172I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1172					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGGGGCGCGGATCCTCACGG	0.642000														35			13		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10442697	10442697	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10442697G>A	uc003bvt.3	-	4	1160	c.721C>T	c.(721-723)Cta>Tta	p.L241L	ATP2B2_uc003bvv.3_Silent_p.L241L|ATP2B2_uc003bvw.3_Silent_p.L241L|ATP2B2_uc010hdp.2_Silent_p.L241L|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	241					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCTCCAGTTAGGGAGCTTTCA	0.597000														72			30		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926412	70926412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70926412C>T	uc002ezr.3	-	55	9417	c.9266G>A	c.(9265-9267)gGg>gAg	p.G3089E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3090										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTGAAATCCCTACAGAGTC	0.433000														46			21		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113170542	113170542	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:113170542G>A	uc010mtz.3	-	37	7675	c.7338C>T	c.(7336-7338)atC>atT	p.I2446I	SVEP1_uc010mty.3_Silent_p.I372I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2446	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCATTGGGGATTTCCTCAG	0.498000														18			21		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49013314	49013314	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49013314G>A	uc002pjk.3	-	3	414	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCATTGGCAGGGAGACCTCAG	0.622000														40			7		0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69500629	69500629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:69500629G>A	uc004dyb.2	+	14	1095	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ARR3_uc004dya.3_Missense_Mutation_p.E343K|RAB41_uc010nkv.3_5'Flank	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	343					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TGTTGGTGTGGAGCTACCCTT	0.547000														18			49		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706266	107706266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:107706266G>A	uc010ljo.1	-	20	2861	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	LAMB4_uc003vey.2_Missense_Mutation_p.S926F|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	926	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGATAACAGGAATGGGCAAA	0.423000														102			117		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168465650	168465650	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:168465650G>A	uc003qwo.4	-	4	614	c.549C>T	c.(547-549)ttC>ttT	p.F183F	FRMD1_uc003qwm.4_5'UTR|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.F95F|FRMD1_uc003qwn.4_Silent_p.F115F	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	183	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCCAGCAGGAAGTAGGCTT	0.657000														23			26		0	0	1	0	0
LOC440295	0	broad.mit.edu	37	15	82808358	82808358	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:82808358T>C	uc002bhl.2	+	5	836	c.736T>C	c.(736-738)Tgt>Cgt	p.C246R	GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Non-coding_Transcript|LOC440295_uc021sss.1_5'Flank					SubName: Full=cDNA FLJ61650, highly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		GGAGAGGCTATGTGAACAGGA	0.562000														9			2		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916530	97916530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:97916530C>T	uc001klp.3	+	5	1308	c.451C>T	c.(451-453)Cct>Tct	p.P151S	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P151S|ZNF518A_uc001klr.3_Missense_Mutation_p.P151S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ACCTTCATATCCTTGTGAAAT	0.368000														115			39		0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49856860	49856860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49856860C>T	uc004dos.1	+	11	2473	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F	CLCN5_uc004dor.1_Missense_Mutation_p.S812F|CLCN5_uc004doq.1_Missense_Mutation_p.S812F|CLCN5_uc004dot.1_Missense_Mutation_p.S742F	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	742	CBS 2.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GATCCTGATTCCATTCTCTTC	0.373000														8			29		0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50334627	50334628	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50334627_50334628CC>TT	uc002ppw.2	+	9	1202_1203	c.1139_1140CC>TT	c.(1138-1140)tcc>tTT	p.S380F	MED25_uc010ybe.2_Missense_Mutation_p.S167F|MED25_uc002ppx.1_Missense_Mutation_p.S161F	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	380	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGCGGCCCTTCCCCAGCCCAGC	0.698000														5			5		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317281	141317281	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:141317281A>G	uc011chi.2	-	9	1181	c.963T>C	c.(961-963)ttT>ttC	p.F321F	CLGN_uc003iii.3_Silent_p.F321F	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	321					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATCAGGGATAAATTTTGGTT	0.358000														140			90		0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510780	4510780	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4510780T>C	uc001lza.2	+	0	672	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I217T(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTTTGTTATCCTGTCTTAT	0.502000														143			60		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296451	28296451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:28296451C>T	uc002ymg.3	-	7	3443	c.2714G>A	c.(2713-2715)gGa>gAa	p.G905E		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	905	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTTCCGGTTTCCATCCTGGCA	0.532000														52			17		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844600	128844600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:128844600G>A	uc009zcp.3	-	19	2450	c.2450C>T	c.(2449-2451)tCc>tTc	p.S817F	ARHGAP32_uc009zcq.2_Missense_Mutation_p.S777F|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.S468F	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	817					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTAAAAAGGAAGCACCACT	0.458000														59			17		0	0	1	0	0
AL157440	0	broad.mit.edu	37	10	88730307	88730308	+	Nonsense_Mutation	DNP	GG	TA	TA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:88730307_88730308GG>TA	uc001kec.1	-	1	139_140	c.73_74CC>TA	c.(73-75)cca>TAa	p.P25*	AGAP11_uc001kee.2_5'Flank|C10orf116_uc001ked.2_Nonsense_Mutation_p.G67*					Homo sapiens mRNA; cDNA DKFZp434C185 (from clone DKFZp434C185).																		CACCTTCTCTGGGATTGGGAAA	0.594000														17			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179623868	179623868	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179623868C>T	uc021vsy.1	-	43	10371	c.10146G>A	c.(10144-10146)aaG>aaA	p.K3382K	TTN_uc021vsz.1_Silent_p.K3336K|TTN_uc021vta.1_Silent_p.K3336K|TTN_uc021vtb.1_Silent_p.K3336K|TTN_uc002umz.1_Silent_p.K43K|TTN_uc002unb.2_Silent_p.K3382K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4325	Ig-like 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T3382I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGATTTTCTTGTCTTTGC	0.373000														51			32		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103293623	103293623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:103293623C>T	uc003ykr.2	-	40	6276	c.5821G>A	c.(5821-5823)Gtt>Att	p.V1941I	UBR5_uc003yks.2_Missense_Mutation_p.V1941I	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1941					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	RNA binding|protein 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)			AATGAGCAAACATCCAAAACT	0.398000														77			56		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387947	46387947	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46387947G>T	uc002pds.1	-	0	1430	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GTGGGCCACAGAGAGCCGCAG	0.751000														14			10		1.61879e-10	1.63263e-10	1	1	0
OR5A2	219981	broad.mit.edu	37	11	59189496	59189496	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:59189496C>A	uc010rkt.2	-	0	931	c.931G>T	c.(931-933)Ggg>Tgg	p.G311W		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P310H(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGAGAAATCCCGGGGTCCCTT	0.413000														80			35		1.22384e-17	1.24023e-17	1	1	0
SULF1	23213	broad.mit.edu	37	8	70539472	70539472	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:70539472C>T	uc003xyg.2	+	14	2439	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	SULF1_uc010lza.1_Silent_p.I626I|SULF1_uc003xyd.2_Silent_p.I626I|SULF1_uc003xye.2_Silent_p.I626I|SULF1_uc003xyf.2_Silent_p.I626I|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_5'Flank	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	626					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATGACTCTATCCATTGTGAGA	0.388000														58			18		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626249	44626249	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:44626249G>A	uc002ikn.1	+	8	3747	c.3744G>A	c.(3742-3744)ctG>ctA	p.L1248L	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Silent_p.L209L|LRRC37A2_uc010dax.2_Silent_p.L178L	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1248						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TCTCTGTGCTGAAACCCTTCT	0.547000														95			47		0	0	1	0	0
FCGR3B	2215	broad.mit.edu	37	1	161600982	161600982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161600982C>T	uc009wul.3	-	0	271	c.11G>A	c.(10-12)gGg>gAg	p.G4E	FCGR3B_uc021pdo.1_Intron	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	0					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTCCCCAGTCCCTCCACCCAT	0.502000														17			10		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32632691	32632691	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:32632691A>G	uc001mtv.3	-	16	3061	c.3017T>C	c.(3016-3018)tTt>tCt	p.F1006S		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	1006										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGTGGGAAAAGAGGAATC	0.398000														103			60		0	0	1	0	0
C1orf124	83932	broad.mit.edu	37	1	231475563	231475563	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:231475563C>T	uc001hur.3	+	1	718	c.270C>T	c.(268-270)atC>atT	p.I90I	EXOC8_uc001huq.3_5'Flank|C1orf124_uc001hus.3_Silent_p.I90I|C1orf124_uc001hut.3_Silent_p.I90I	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	90					DNA repair	nuclear speck	DNA binding|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TGTGTTCCATCCGTCTCAGCG	0.418000														101			61		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49447730	49447730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49447730C>T	uc001jgi.3	-	6	1037	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E205K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E205K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	236					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTGCTTCTTTCTGAAACTAAT	0.502000														46			7		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34501989	34501989	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34501989C>T	uc002xek.1	+	11	1806	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GTGACACCTCCCAGGAACCTT	0.517000														60			38		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46430162	46430162	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:46430162G>A	uc001ncv.2	-	18	3627	c.3313C>T	c.(3313-3315)Cag>Tag	p.Q1105*	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q1073*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q1012*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.Q1102*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q983*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q1042*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1102				Q -> E (in Ref. 5; AAH45609).	autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.T1104M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGGTGCCCTGAGATGTCACT	0.612000														29			25		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657580	143657580	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143657580T>A	uc003wds.1	+	0	561	c.517T>A	c.(517-519)Ttt>Att	p.F173I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CAGAAACAAGTTTATTGATCA	0.507000														60			69		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46826630G>A	uc003oyo.3	-	16	3299	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_uc011dwj.1_Missense_Mutation_p.P559S|GPR116_uc011dwk.1_Missense_Mutation_p.P433S|GPR116_uc003oyp.3_Missense_Mutation_p.P862S|GPR116_uc003oyq.3_Missense_Mutation_p.P1004S|GPR116_uc010jzi.1_Missense_Mutation_p.P676S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1004L(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488000														66			33		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35468504	35468504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:35468504C>T	uc002hnm.3	-	51	6607	c.6416G>A	c.(6415-6417)cGg>cAg	p.R2139Q	ACACA_uc002hnk.3_Missense_Mutation_p.R2061Q|ACACA_uc002hnl.3_Missense_Mutation_p.R2081Q|ACACA_uc002hnn.3_Missense_Mutation_p.R2139Q|ACACA_uc002hno.3_Missense_Mutation_p.R2176Q|ACACA_uc010cuy.3_Missense_Mutation_p.R784Q|ACACA_uc010wdb.2_Missense_Mutation_p.R177Q|ACACA_uc010wdc.2_Missense_Mutation_p.R265Q	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2139	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.R2081L(1)|p.R2176L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGGTCCACCCGACGCATGGT	0.463000														140			53		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152054327	152054327	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:152054327A>T	uc010ipl.1	-	16	2867	c.1777T>A	c.(1777-1779)Tca>Aca	p.S593T	SH3D19_uc003imb.2_Missense_Mutation_p.S348T|SH3D19_uc003imc.2_Missense_Mutation_p.S534T|SH3D19_uc003ime.2_Missense_Mutation_p.S570T|SH3D19_uc010ipm.2_Missense_Mutation_p.S570T	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	593	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCTCCCTCTGAGAAACTCAAC	0.418000														57			27		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24647299	24647299	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24647299G>A	uc001wmr.3	+	12	1291	c.864G>A	c.(862-864)agG>agA	p.R288R	REC8_uc001wms.3_Silent_p.R288R	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	289	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CTCAACAGAGGAGGCCCCCAG	0.617000														79			5		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505322	155505322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155505322G>A	uc003iod.1	-	5	2613	c.2555C>T	c.(2554-2556)tCc>tTc	p.S852F		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	852	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCCTGAGGGAATAATCTGC	0.493000														92			36		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645571	38645571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38645571G>A	uc021wvo.1	-	10	1574	c.1522C>T	c.(1522-1524)Cat>Tat	p.H508Y	SCN5A_uc021wvk.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvl.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvm.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvn.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvp.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvq.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvr.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvs.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvt.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvu.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvv.1_Missense_Mutation_p.H508Y|SCN5A_uc021wvj.1_Missense_Mutation_p.H374Y|SCN5A_uc021wvi.1_Missense_Mutation_p.H374Y|SCN5A_uc021wvw.1_Missense_Mutation_p.H119Y	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	508					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCTGAGATGATTCTAAGGG	0.557000														9			5		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42588400	42588400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42588400C>T	uc003gwr.2	-	8	920	c.688G>A	c.(688-690)Gat>Aat	p.D230N	ATP8A1_uc003gws.2_Missense_Mutation_p.D230N|ATP8A1_uc011byz.1_Missense_Mutation_p.D230N	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	230					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAACAAAATCGTAGAGATGT	0.393000														48			14		0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30824461	30824461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30824461C>T	uc010gvx.1	+	4	424	c.173C>T	c.(172-174)tCc>tTc	p.S58F	SEC14L2_uc003ahv.1_Silent_p.F309F|SEC14L2_uc010gvy.1_Missense_Mutation_p.S50F|SEC14L2_uc003ahw.2_Silent_p.F147F|SEC14L2_uc003ahx.2_Missense_Mutation_p.P70S			O76054	S14L2_HUMAN	Homo sapiens mitochondrial fission process 1 (MTFP1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CGGTGGATTTCCTCCTGGACT	0.597000														42			26		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619980	24619980	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24619980C>T	uc001wmn.1	+	7	1620	c.1371C>T	c.(1369-1371)ccC>ccT	p.P457P	RNF31_uc001wml.1_Silent_p.P306P|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.P272P|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	457	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGGGACCCCCCAAGCCTGGGC	0.627000														95			8		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855890	100855891	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100855890_100855891GG>AA	uc003uyd.3	-	8	1381_1382	c.925_926CC>TT	c.(925-927)ccg>TTg	p.P309L		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	309					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGCAGAAACGGAGTAGGCTGT	0.619000														75			25		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29052749	29052749	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:29052749C>T	uc002kws.3	+	13	2208	c.2099C>T	c.(2098-2100)tCt>tTt	p.S700F	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	700					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATGGAAAGTTCTGGTAAGTGG	0.318000														38			15		0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222933	45222933	+	Silent	SNP	C	T	T	rs148542783		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:45222933C>T	uc003tnb.3	+	2	430	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	123					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCCCGCTGATCGTTATACCCG	0.617000														156			73		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486956	94486956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:94486956G>A	uc004arj.2	-	8	2019	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	ROR2_uc004ari.1_Missense_Mutation_p.S467F	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	607	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGTGGCTGGATAGGTACTC	0.612000														34			68		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42693496	42693496	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42693496A>G	uc010ggo.3	+	6	1000	c.960_splice	c.e6+1	p.K320_splice	TOX2_uc002xle.4_Splice_Site_p.K278_splice|TOX2_uc010ggp.3_Splice_Site_p.K278_splice|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Splice_Site_p.K198_splice	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTCGTCTCCAAGGTAACACCC	0.587000														69			48		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56228155	56228155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56228155C>T	uc002qly.3	-	4	2297	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	757						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTCATTCCTTCGTCCCTCAAG	0.527000														63			45		0	0	1	0	0
OR2T5	401993	broad.mit.edu	37	1	248652009	248652009	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248652009G>A	uc001iem.1	+	0	120	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_001004697	NP_001004697	Q6IEZ7	OR2T5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 5 (OR2T5), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTTTTCCTGAAGGCGTTGT	0.478000														91			33		0	0	1	0	0
C2orf89	129293	broad.mit.edu	37	2	85059214	85059214	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:85059214C>T	uc010ysl.2	-	4	1136	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	C2orf89_uc002sou.4_Silent_p.E300E	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	349						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGTGTTCTACCTCATAGCCTT	0.552000														70			29		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175772322	175772322	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:175772322G>A	uc003mds.4	+	11	2900	c.2493G>A	c.(2491-2493)caG>caA	p.Q831Q	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.Q416Q|C5orf25_uc003mdv.3_Silent_p.Q292Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	831												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCCTGATCCAGATGCTGGGGG	0.522000														27			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594433	179594433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179594433C>T	uc021vsy.1	-	59	15040	c.14815G>A	c.(14815-14817)Gac>Aac	p.D4939N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1600N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5866							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCCTGCGTCATTTCGAGCT	0.458000														125			58		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48990633	48990633	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:48990633G>A	uc003gyv.3	+	1	365	c.183G>A	c.(181-183)tgG>tgA	p.W61*	CWH43_uc011bzl.2_Nonsense_Mutation_p.W34*	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	61					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCCTTTCTGGAAATTGGTTA	0.318000														22			13		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699004	49699004	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49699004G>A	uc003cxe.4	+	5	9840	c.9726G>A	c.(9724-9726)aaG>aaA	p.K3242K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3242					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AACTGACCAAGGACAGCACCT	0.582000														142			48		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64630183	64630183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64630183C>T	uc001xgl.3	+	88	16593	c.16363C>T	c.(16363-16365)Cga>Tga	p.R5455*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.R5455*|SYNE2_uc010apy.3_Nonsense_Mutation_p.R1840*|SYNE2_uc001xgn.3_Nonsense_Mutation_p.R417*|SYNE2_uc021rui.1_Nonsense_Mutation_p.R417*|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5455					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCCTGGATCGACTCCCACA	0.527000														55			6		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46283579	46283579	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46283579A>G	uc002pdi.1	-	2	424	c.238_splice	c.e2+1	p.A80_splice	DMPK_uc010xxs.1_5'Flank|DMPK_uc002pdd.1_5'UTR|DMPK_uc002pde.1_5'UTR|DMPK_uc002pdg.1_Intron|DMPK_uc002pdf.1_Intron|DMPK_uc002pdh.1_Intron|DMPK_uc010xxt.1_Intron|DMPK_uc010xxu.1_5'UTR	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	64					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		tgtatccagtacctctagatt	0.557000														38			37		0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489701	76489701	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:76489701A>G	uc011cbo.2	+	2	524	c.489A>G	c.(487-489)agA>agG	p.R163R	C4orf26_uc011cbn.2_Non-coding_Transcript|C4orf26_uc003hip.2_3'UTR	NM_001206981	NP_001193910	Q17RF5	CD026_HUMAN	Homo sapiens chromosome 4 open reading frame 26 (C4orf26), transcript variant 1, mRNA.	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATCCTTCAGAAAAAAGCAAC	0.363000														29			6		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339032	36339032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36339032C>T	uc002oby.3	-	10	1507	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	451	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TTCTGGCCCTCTGGGGGACCC	0.617000														100			26		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462560	65462560	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:65462560A>C	uc001ssk.3	-	3	897	c.522T>G	c.(520-522)ttT>ttG	p.F174L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	174	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GACATGTTTTAAAGAAGATAG	0.388000			T	HMGA2	pleomorphic salivary gland adenoma									66			34		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653522	110653522	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:110653522A>T	uc004epd.3	-	1	520	c.348T>A	c.(346-348)tgT>tgA	p.C116*	DCX_uc011msv.2_Nonsense_Mutation_p.C116*|DCX_uc004epe.3_Nonsense_Mutation_p.C35*|DCX_uc004epf.3_Nonsense_Mutation_p.C35*|DCX_uc004epg.3_Nonsense_Mutation_p.C35*	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	116					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGTAGAAGCTACAGTGGGCGC	0.507000														33			57		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509148	33509148	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:33509148C>T	uc010gey.2	+	11	1453	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	ACSS2_uc002xbc.2_Silent_p.S336S|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Silent_p.S431S|ACSS2_uc002xbe.2_Silent_p.S139S	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	431					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCGGGCATCCTTGCAGGTGT	0.597000														94			41		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413331	178413331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:178413331C>T	uc003mjr.3	-	7	2103	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.V225M|GRM6_uc003mjs.1_Missense_Mutation_p.V262M	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	642					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGCTCAGCCACCATGAGGAAG	0.652000														12			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228437	140228437	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140228437G>A	uc003lhu.2	+	0	1081	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.V119V	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	134	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGACGTGGAGG	0.577000														54			108		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13273072	13273072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13273072G>A	uc010gce.1	+	4	845	c.839G>A	c.(838-840)gGa>gAa	p.G280E	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	280						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCTTGCGGGAAGCGAGGAG	0.388000														14			10		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138761036	138761036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138761036G>A	uc003vun.3	-	5	2081	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y	ZC3HAV1_uc003vuo.3_Missense_Mutation_p.H26Y|ZC3HAV1_uc003vup.3_Missense_Mutation_p.H565Y	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	565			H -> Q (in dbSNP:rs2297241).		response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACTTACAGGTGGATTCCGGGG	0.468000														133			47		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118969796	118969796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:118969796C>T	uc010qsr.2	+	2	1141	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	381						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GTTTTACCACCTTGTTAAAAA	0.403000														35			24		0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986417	51986417	+	Silent	SNP	C	T	T	rs61746192		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51986417C>T	uc002pwv.1	+	4	1003	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	335	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCTCCCTCCTGAACTTCTC	0.527000														103			69		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109737	21109737	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21109737G>A	uc001vxv.1	-	0	114	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TCAGATTCAGGAGATAGACAA	0.483000														57			44		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607229	42607229	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:42607229G>A	uc003bcj.1	-	0	4217	c.4083C>T	c.(4081-4083)tcC>tcT	p.S1361S	TCF20_uc003bck.1_Silent_p.S1361S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAATATTTGGGGATGTAATCT	0.502000														49			25		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23718360	23718360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23718360G>A	uc002dma.4	-	4	660	c.491C>T	c.(490-492)cCc>cTc	p.P164L	ERN2_uc010bxp.3_Missense_Mutation_p.P164L|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	116					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTGCGGCAGGGAGAGGCATG	0.552000														44			33		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20832975	20832975	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:20832975T>A	uc001reh.2	+	15	3236	c.3196T>A	c.(3196-3198)Ttc>Atc	p.F1066I	PDE3A_uc021qwa.1_Missense_Mutation_p.F744I	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1066	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AAAGAAGACTTTCAAAAGGAG	0.358000														22			14		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42874187	42874187	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:42874187C>T	uc001uys.2	+	7	1480	c.1305C>T	c.(1303-1305)cgC>cgT	p.R435R		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	435					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTCTCCTCGCCCAGTGAAGG	0.468000														60			116		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70954989	70954990	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:70954989_70954990CC>TT	uc001jpe.1	+	6	954_955	c.899_900CC>TT	c.(898-900)gcc>gTT	p.A300V	SUPV3L1_uc010qjd.1_Missense_Mutation_p.A169V	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	300	Helicase ATP-binding.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAGATCCAGCCAGAGGATGGG	0.371000														46			11		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451761	29451761	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:29451761C>A	uc002rmy.3	-	15	3756	c.2804G>T	c.(2803-2805)gGa>gTa	p.G935V		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	935	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATATATCCTCCGCCTCCTCC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					63			36		3.05275e-18	3.09577e-18	1	1	0
TTN	7273	broad.mit.edu	37	2	179454956	179454956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179454956C>T	uc021vsy.1	-	252	54017	c.53792G>A	c.(53791-53793)cGa>cAa	p.R17931Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11626Q|TTN_uc021vta.1_Missense_Mutation_p.R11559Q|TTN_uc021vtb.1_Missense_Mutation_p.R11434Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18858	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTTTGACTCGAGCTAGAAT	0.438000														101			41		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54675776	54675776	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54675776A>G	uc010erf.3	-	1	306	c.174T>C	c.(172-174)ccT>ccC	p.P58P	TMC4_uc002qdo.3_Silent_p.P52P	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	58						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGCCCCCCAAGGCAGCACCC	0.657000														56			15		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38919173	38919173	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:38919173G>C	uc021yzh.1	+	81	12437	c.12328G>C	c.(12328-12330)Gtt>Ctt	p.V4110L	DNAH8_uc003ooe.2_Missense_Mutation_p.V3893L|DNAH8_uc003oog.1_Missense_Mutation_p.V342L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.Y4109C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACAGAACCAGTTATCTTAAA	0.418000														173			85		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46318574	46318574	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:46318574G>A	uc001rox.3	-	11	4130	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SCAF11_uc001row.3_Silent_p.P966P	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1281	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GTGGGGGAGGGGGTGGTGGTG	0.493000														126			63		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4540018	4540018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:4540018G>A	uc002mau.3	-	0	19	c.8C>T	c.(7-9)tCt>tTt	p.S3F	PLIN5_uc002mat.1_5'UTR	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	3						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCTCCAAGAGGACATGGT	0.577000														128			90		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9297370	9297370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9297370C>T	uc002mkz.1	+	0	1101	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	305					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GGGGAGTCTCCTCAGCAGGGC	0.507000														48			29		0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67434405	67434405	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67434405A>C	uc001omr.3	-	2	441	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ALDH3B2_uc001oms.3_Missense_Mutation_p.M1R|ALDH3B2_uc009ysa.1_Missense_Mutation_p.M1R	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	1					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TTCATCCTTCATCCAGGCCTG	0.617000														48			23		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742491	17742491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:17742491G>A	uc011mix.2	+	5	1519	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	NHS_uc004cxx.3_Missense_Mutation_p.R373Q|NHS_uc004cxy.3_Missense_Mutation_p.R217Q|NHS_uc004cxz.3_Missense_Mutation_p.R196Q|NHS_uc004cya.3_Missense_Mutation_p.R96Q	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	373						nucleus		p.R373Q(2)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCGGAGACGAAAATTGAGG	0.448000														15			64		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084978	31084978	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:31084978G>A	uc003nsm.2	-	1	470	c.414C>T	c.(412-414)agC>agT	p.S138S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	138	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCGAGTGAGAGCTGCTGCTCC	0.577000														26			15		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15355557	15355557	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:15355557T>C	uc002nar.3	-	11	2397	c.2175A>G	c.(2173-2175)tcA>tcG	p.S725S		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	725					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCTTCTTTTTTGACTTCGGAG	0.567000			T	C15orf55	lethal midline carcinoma of young people									151			14		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619584	206619584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:206619584C>T	uc001hdy.3	+	14	1778	c.1777C>T	c.(1777-1779)Cca>Tca	p.P593S	SRGAP2_uc010prt.1_Missense_Mutation_p.P516S|SRGAP2_uc001hdx.3_Missense_Mutation_p.P593S|SRGAP2_uc010pru.2_Missense_Mutation_p.P592S|SRGAP2_uc010prv.1_Missense_Mutation_p.P517S	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	680	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GAACATCTTCCCAAGCCCCAG	0.582000														160			92		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88401667	88401667	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:88401667C>T	uc010ikm.3	-	9	2246	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	SPARCL1_uc011cdc.2_Silent_p.K433K|SPARCL1_uc003hqs.4_Silent_p.K558K|SPARCL1_uc011cdd.2_Silent_p.K433K	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	558					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGTAAATTTTCTTGACCTGGG	0.403000														29			20		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311112	84311112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:84311112G>A	uc021zcf.1	-	14	1232	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.S399L|SNAP91_uc011dze.2_Missense_Mutation_p.S399L|SNAP91_uc003pkc.3_Missense_Mutation_p.S399L|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S364L	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	401	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATGGATCTGAAATCTGTGC	0.453000														28			7		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50684626	50684626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:50684626G>A	uc003day.2	+	11	1630	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MAPKAPK3_uc003daz.2_Missense_Mutation_p.E330K|MAPKAPK3_uc003dba.2_Missense_Mutation_p.E330K|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.E330K	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	330					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCACTGGGACGAAGTCAAGGT	0.602000														11			3		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170072476	170072476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:170072476C>T	uc003qwx.3	-	2	726	c.206G>A	c.(205-207)gGa>gAa	p.G69E	WDR27_uc021zio.1_Missense_Mutation_p.G69E|WDR27_uc003qwy.3_Missense_Mutation_p.G69E|WDR27_uc011egw.1_Non-coding_Transcript|WDR27_uc010kkx.3_Missense_Mutation_p.G69E	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	69										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGATGGTGTCCTCGTAGGAT	0.343000														9			7		0	0	1	0	0
LGALS8	3964	broad.mit.edu	37	1	236703877	236703877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:236703877G>A	uc001hxz.2	+	5	740	c.359G>A	c.(358-360)gGa>gAa	p.G120E	LGALS8_uc001hxw.2_Missense_Mutation_p.G120E|LGALS8_uc001hxy.2_Missense_Mutation_p.G120E|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.G120E|LGALS8_uc001hyc.2_Intron	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	120	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTGTAAATGGAAAACATACT	0.398000														110			36		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141299511	141299511	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141299511G>A	uc002tvj.1	-	43	8196	c.7224C>T	c.(7222-7224)ttC>ttT	p.F2408F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2408					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAAACTGAGGAAAGTCCCTG	0.363000										TSP Lung(27;0.18)				24			17		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922646	17922646	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17922646C>T	uc002nhl.1	+	2	981	c.834C>T	c.(832-834)ttC>ttT	p.F278F	B3GNT3_uc010ebd.1_Silent_p.F278F|B3GNT3_uc010ebe.1_Silent_p.F278F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	278					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TGTCCCGCTTCACGGCCGCTG	0.577000														91			9		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991189	47991189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:47991189C>T	uc002xur.1	-	1	1074	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	KCNB1_uc002xus.1_Missense_Mutation_p.R303Q	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	303					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R303*(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGAGAATTCGCATGATGCG	0.532000														71			63		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186122	114186122	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:114186122T>A	uc003ynu.3	-	3	697	c.538A>T	c.(538-540)Aat>Tat	p.N180Y	CSMD3_uc003ynt.3_Missense_Mutation_p.N140Y|CSMD3_uc011lhx.2_Missense_Mutation_p.N180Y|CSMD3_uc010mcx.1_Missense_Mutation_p.N180Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	180	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACACCAGGATTTCCACAAGAG	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			49		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8258065	8258065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:8258065G>A	uc003sro.4	-	5	585	c.449C>T	c.(448-450)tCa>tTa	p.S150L	ICA1_uc010ktr.3_Missense_Mutation_p.S150L|ICA1_uc003srm.3_Missense_Mutation_p.S150L|ICA1_uc003srn.4_Missense_Mutation_p.S76L|ICA1_uc003srq.3_Missense_Mutation_p.S150L|ICA1_uc003srr.3_Missense_Mutation_p.S149L|ICA1_uc010kts.3_Non-coding_Transcript|ICA1_uc003srs.1_Missense_Mutation_p.S150L	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	150	AH.				neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCAAGTATCTGAGATGGCCCG	0.488000														58			43		0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153955017	153955017	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:153955017C>A	uc001fdt.1	-	5	568	c.474G>T	c.(472-474)gtG>gtT	p.V158V	RAB13_uc001fdu.1_3'UTR	NM_002870	NP_002861	P51153	RAB13_HUMAN	Homo sapiens RAB13, member RAS oncogene family (RAB13), mRNA.	158					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCACCTCATCCACATTCATAC	0.463000														79			53		1.19403e-26	1.21967e-26	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37490162	37490162	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37490162G>A	uc021ppc.1	+	31	2710	c.2611_splice	c.e31-1	p.S871_splice	ANKRD30A_uc001iza.1_Splice_Site_p.S871_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	927						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTTTTAACAGAGTCTCCGTG	0.284000														48			27		0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130649777	130649777	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:130649777G>A	uc004bsp.1	-	5	917	c.798C>T	c.(796-798)ccC>ccT	p.P266P	ST6GALNAC6_uc004bsn.1_Silent_p.P232P|ST6GALNAC6_uc011man.1_Silent_p.P66P|ST6GALNAC6_uc004bso.1_Silent_p.P266P|ST6GALNAC6_uc004bsq.1_Silent_p.P232P|ST6GALNAC6_uc004bsr.2_Silent_p.P232P|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	266					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTAGTTGGGGGGGACCATGC	0.607000														14			17		0	0	1	0	0
TRIM27	5987	broad.mit.edu	37	6	28872105	28872105	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28872105G>A	uc003nlr.3	-	7	1643	c.1284C>T	c.(1282-1284)ccC>ccT	p.P428P	TRIM27_uc003nls.3_Intron|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	428	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGGTCCGCAGGGGTAGGGCAG	0.537000			T	RET	papillary thyroid									86			47		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242404	126242404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:126242404C>T	uc003ifj.4	+	0	4838	c.4838C>T	c.(4837-4839)tCg>tTg	p.S1613L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1613	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAGGAAATCGACCACTGAA	0.443000														92			32		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94060035	94060035	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:94060035G>A	uc001ybv.1	+	19	2594	c.2511G>A	c.(2509-2511)agG>agA	p.R837R	UNC79_uc001ybs.1_Silent_p.R837R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1014						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCCTGTGGAGGGTCGTCAAAT	0.473000														116			4		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41057250	41057250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41057250C>T	uc003jmj.4	-	8	1370	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	HEATR7B2_uc003jmi.4_Intron|HEATR7B2_uc021xxt.1_Missense_Mutation_p.E294K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	294							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATTTCATTTTCCTTTACTGGA	0.403000														13			12		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141583175	141583175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:141583175C>T	uc010ioj.3	-	9	1947	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	559	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCAATCTCCTCCGTGGCG	0.473000														99			60		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873104	55873104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55873104G>A	uc010riy.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E196K(2)|p.T195T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATACAACACCGAAATCCTGAT	0.388000										HNSCC(53;0.14)				131			71		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923768	226923768	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:226923768C>T	uc010pvo.2	-	1	1732	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	ITPKB_uc001hqh.3_Silent_p.G464G	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	464							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTCCACATTCCCGGTCCCCG	0.652000														85			18		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176301345G>A	uc003mey.3	+	7	1348	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	UNC5A_uc010jkg.1_Missense_Mutation_p.D346N	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	386					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647000														132			13		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493449	60493449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60493449G>A	uc010wpc.2	+	11	1303	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	EFCAB3_uc002izu.2_Missense_Mutation_p.G359E	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	359							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGATCCGAGGGGATTTGATT	0.423000														61			60		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38700836	38700836	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:38700836G>A	uc010lwp.3	+	10	2530	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q	TACC1_uc003xma.3_Silent_p.Q155Q|TACC1_uc003xmb.4_Silent_p.Q643Q|TACC1_uc003xlz.3_Silent_p.Q522Q|TACC1_uc003xmc.4_Silent_p.Q521Q|TACC1_uc011lbz.2_Silent_p.Q704Q|TACC1_uc003xmf.4_Silent_p.Q307Q|TACC1_uc011lca.2_Silent_p.Q700Q|TACC1_uc011lcb.2_Silent_p.Q493Q|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Silent_p.Q534Q|TACC1_uc010lwq.3_Silent_p.Q533Q	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	717	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AATGTGCTCAGGATTACTTAG	0.378000														182			69		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822425	72822425	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:72822425T>A	uc002fck.3	-	9	10423	c.9750A>T	c.(9748-9750)aaA>aaT	p.K3250N	ZFHX3_uc002fcl.3_Missense_Mutation_p.K2336N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3250					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGTTCCCCTTTCCCTTTGT	0.587000														147			48		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501871	55501871	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55501871T>C	uc021vbq.1	+	10	2649	c.2538_splice	c.e10-1	p.S846_splice	NLRP2_uc010yfp.2_Splice_Site_p.S823_splice|NLRP2_uc002qij.3_Splice_Site_p.S846_splice|NLRP2_uc010esp.3_Splice_Site_p.S824_splice|NLRP2_uc010esn.3_Splice_Site_p.S822_splice|NLRP2_uc010eso.3_Splice_Site_p.S843_splice	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	846					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTTGTAGGTTGGAAAACTG	0.512000														40			25		0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069161	161069161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161069161G>A	uc001fxr.3	+	1	698	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_3'UTR|KLHDC9_uc001fxs.3_Missense_Mutation_p.A185T	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	185										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCACACAGCCTCACGCTC	0.542000														40			22		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411636	51411636	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:51411636T>A	uc001nhi.2	-	0	813	c.760A>T	c.(760-762)Ata>Tta	p.I254L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I254T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTAACATATATGAAAATACAG	0.393000														54			9		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18853836	18853836	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18853836G>A	uc010ebv.3	+	2	331	c.243_splice	c.e2+1	p.Q81_splice	CRTC1_uc002nkb.4_Splice_Site_p.Q81_splice	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	81					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGCCCTTCCAGGTGAGTGCCC	0.657000														29			19		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456627	5456627	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:5456627C>T	uc002mca.4	+	0	1202	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	375						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGGACCCCTCCCTACCGGGCC	0.682000														37			38		0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95680196	95680196	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:95680196C>T	uc003ygq.4	+	9	1134	c.951C>T	c.(949-951)gcC>gcT	p.A317A	ESRP1_uc003ygr.4_Silent_p.A317A|ESRP1_uc003ygs.4_Silent_p.A317A|ESRP1_uc003ygt.4_Silent_p.A317A|ESRP1_uc003ygu.4_Silent_p.A317A|ESRP1_uc003ygv.3_Silent_p.A157A|ESRP1_uc003ygw.3_Silent_p.A157A	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	317					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						ATGAGGTAGCCCAGTTTCTCT	0.453000														32			25		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489449	489449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:489449C>T	uc001lpj.3	+	8	1080	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	302						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCTGGGTTCGCTTCGAGTG	0.687000														30			19		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845926	24845926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24845926C>T	uc001wpc.3	+	8	2804	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.S891F|NFATC4_uc010tol.2_Missense_Mutation_p.S891F|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.S841F|NFATC4_uc010ton.2_Missense_Mutation_p.S841F|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.S860F|NFATC4_uc010top.2_Missense_Mutation_p.S860F|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.S758F|NFATC4_uc010tot.2_Missense_Mutation_p.S816F|NFATC4_uc010tou.2_Missense_Mutation_p.S758F|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.S816F|NFATC4_uc010tox.2_Missense_Mutation_p.S758F|NFATC4_uc001wpd.3_Missense_Mutation_p.S363F|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.S363F|NFATC4_uc010tpa.2_Missense_Mutation_p.S116F|NFATC4_uc010tpb.2_Missense_Mutation_p.S116F	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	828	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCTTCCCTTCCCAGAGTGAT	0.642000														165			13		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82868563	82868563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:82868563G>A	uc001ozx.4	+	0	427	c.82G>A	c.(82-84)Gac>Aac	p.D28N	PCF11_uc010rsu.1_Missense_Mutation_p.D28N	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	28	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCGCTCGAAGACCTGACCTT	0.632000														87			38		0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74304817	74304817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:74304817G>A	uc003phn.4	-	10	1599	c.1471C>T	c.(1471-1473)Cat>Tat	p.H491Y	SLC17A5_uc010kax.3_Missense_Mutation_p.H150Y|SLC17A5_uc010kay.3_Non-coding_Transcript	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	491					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTGTCCATGGTGATCATTG	0.368000														93			40		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662516	160662516	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:160662516C>T	uc003qtf.3	-	8	1665	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	497					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.P496R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CGAAAACCATCAGCGGGAGCT	0.438000														56			31		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75168812	75168812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:75168812C>T	uc001owo.4	-	5	778	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	GDPD5_uc001owp.4_Missense_Mutation_p.G81S|GDPD5_uc009yuc.3_5'UTR|GDPD5_uc009yud.3_Intron|GDPD5_uc009yue.1_Missense_Mutation_p.G2S	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	81					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTCCAGTAGCCCATGCGGTTG	0.622000														41			12		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500364	152500364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152500364G>A	uc021vrb.1	-	54	7953	c.7924C>T	c.(7924-7926)Cat>Tat	p.H2642Y	NEB_uc002txu.3_Missense_Mutation_p.H2642Y|NEB_uc021vrc.1_Missense_Mutation_p.H2642Y|NEB_uc010fnx.3_Missense_Mutation_p.H2642Y|NEB_uc021vrd.1_Missense_Mutation_p.H2642Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2642					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGCCGAGCATGGATGACATCG	0.502000														187			69		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857534	9857534	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:9857534C>A	uc010uym.2	-	13	4177	c.3867G>T	c.(3865-3867)caG>caT	p.Q1289H	GRIN2A_uc002czo.4_Missense_Mutation_p.Q1289H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1289					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTAGGAATGCTGACGGCTAA	0.532000														80			4		0.014758	0.0147981	1	1	0
DDX60	55601	broad.mit.edu	37	4	169138132	169138132	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169138132G>A	uc003irp.3	-	37	5383	c.5091C>T	c.(5089-5091)gcC>gcT	p.A1697A	DDX60_uc003iro.3_3'UTR	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1697							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTGTTCAAAGGCTAAGACAA	0.338000														32			20		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76567792	76567792	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76567792G>A	uc010dhp.2	-	3	737	c.612C>T	c.(610-612)atC>atT	p.I204I	DNAH17_uc002jvv.2_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.Q203Q(1)|p.Q203H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCACATCCCGGATCTGGTGGG	0.602000														86			74		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790737	133790737	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:133790737G>A	uc001qgx.4	-	17	3114	c.2883C>T	c.(2881-2883)ttC>ttT	p.F961F		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	961	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCCATGGTGGAAGGGCCGGG	0.721000														19			5		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127555595	127555595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:127555595G>A	uc001ljf.1	-	1	931	c.440C>T	c.(439-441)cCt>cTt	p.P147L	DHX32_uc001ljg.1_Missense_Mutation_p.P147L	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	147	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTTCTCGAAAGGGATCACGTA	0.507000														130			49		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825618	52825618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:52825618C>T	uc004drc.1	-	1	129	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	43								p.K42N(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					CTGATGTTTTCATCTTTTTCA	0.398000														11			39		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47479676	47479676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47479676C>T	uc002leb.2	-	13	1994	c.1706G>A	c.(1705-1707)aGa>aAa	p.R569K	MYO5B_uc021ukb.1_Missense_Mutation_p.R568K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	569	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACCGTGTCTCTGTTTTTCTC	0.517000														71			36		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60470047	60470047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:60470047G>A	uc002ybn.2	+	7	1220	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	CDH4_uc002ybr.2_Missense_Mutation_p.A341T|CDH4_uc002ybp.2_Missense_Mutation_p.A304T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	378	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGCCACAGCCATCATCAC	0.542000														214			121		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359225	66359225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66359225G>A	uc001oiq.4	-	0	1330	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	421										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTGGAAAGGATTTGGGGGG	0.567000														34			13		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17737587	17737587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17737587G>A	uc021uqk.1	-	33	3967	c.3925C>T	c.(3925-3927)Ccg>Tcg	p.P1309S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1310					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAATGTGCGGCTGGAAGCTG	0.557000														29			3		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92403441	92403441	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:92403441G>A	uc010aue.3	-	4	825	c.352C>T	c.(352-354)Cga>Tga	p.R118*	FBLN5_uc010aud.3_Nonsense_Mutation_p.R82*|FBLN5_uc001xzx.4_Nonsense_Mutation_p.R77*	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	77					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.R77R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				tagggCCCTCGATACACAGGG	0.572000														24			40		0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112375546	112375546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:112375546C>T	uc003pvo.3	+	0	176	c.40C>T	c.(40-42)Cac>Tac	p.H14Y	WISP3_uc003pvm.3_5'UTR|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		AGGGTGGCTCCACGGTCCCAG	0.607000														141			65		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30999098	30999098	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:30999098T>C	uc003xio.4	+	24	3908	c.3120T>C	c.(3118-3120)atT>atC	p.I1040I	WRN_uc010lvk.3_Silent_p.I507I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1040					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTATGAAGATTTGCGCCCTTA	0.408000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					63			19		0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457604	3457604	+	Missense_Mutation	SNP	C	T	T	rs121909069		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3457604C>T	uc002klz.3	+	2	1259	c.872C>T	c.(871-873)tCc>tTc	p.S291F	TGIF1_uc002klu.3_Missense_Mutation_p.S142F|TGIF1_uc002klv.3_Missense_Mutation_p.S176F|TGIF1_uc002klx.3_Missense_Mutation_p.S142F|TGIF1_uc002klw.3_Missense_Mutation_p.S162F|TGIF1_uc002kly.3_Missense_Mutation_p.S162F|TGIF1_uc002kma.3_Missense_Mutation_p.S142F|TGIF1_uc002kmb.3_Missense_Mutation_p.S142F|TGIF1_uc002kmc.3_Missense_Mutation_p.S142F	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	291			S -> F (in HPE4).		negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				AAGCCGTCATCCCCGGGATCA	0.532000														51			21		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087738	92087738	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:92087738T>A	uc001pdj.4	+	0	2477	c.2460T>A	c.(2458-2460)aaT>aaA	p.N820K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	820	Cadherin 7.				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)				TGACCATCAATGTGGAGGATG	0.408000										TCGA Ovarian(4;0.039)				28			18		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71218869	71218869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:71218869C>T	uc002ezr.3	-	2	311	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Missense_Mutation_p.E54K|HYDIN_uc010vmc.2_Missense_Mutation_p.E71K|HYDIN_uc010vmd.2_Missense_Mutation_p.E81K|HYDIN_uc002ezw.4_Missense_Mutation_p.E71K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	54								p.E54K(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGGACATTTCCTTCAGGAAC	0.408000														49			11		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150849	128150849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128150849G>A	uc011ebt.2	-	2	630	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	THEMIS_uc010kfa.3_Missense_Mutation_p.H64Y|THEMIS_uc021zfa.1_Missense_Mutation_p.H161Y|THEMIS_uc010kfb.3_Missense_Mutation_p.H126Y	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	161	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TTAAATGAGTGAGTTTGATGA	0.388000														84			46		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332896	31332896	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:31332896G>A	uc002ebr.3	+	15	2051	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	ITGAM_uc002ebq.3_Silent_p.E650E|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Silent_p.E56E|ITGAM_uc002ebs.1_Silent_p.E56E	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	650					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGGAGAGGTCAGAGTCT	0.507000														113			31		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68620323	68620323	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:68620323G>A	uc002sen.4	+	6	954	c.792G>A	c.(790-792)agG>agA	p.R264R	PLEK_uc010fde.3_Silent_p.R264R	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	264	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAAAGTGAGGAAGTTCATCT	0.428000														117			51		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278781	152278781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152278781C>T	uc001ezu.1	-	2	8617	c.8581G>A	c.(8581-8583)Gct>Act	p.A2861T		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2861	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGGAAGCTTCATGGTGA	0.577000									Ichthyosis					588			204		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145299837	145299837	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:145299837C>A	uc021oul.1	+	5	921	c.886C>A	c.(886-888)Cgc>Agc	p.R296S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.R296S|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	296								p.R296H(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGAGAAATTGCGCCCCCAGCT	0.488000														395			46		4.00405e-42	4.10707e-42	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629674	9629674	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:9629674C>T	uc003jem.1	-	0	790	c.471G>A	c.(469-471)agG>agA	p.R157R		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	157					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L156L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGAAAAATTTCCTTAGGAAGT	0.398000														55			8		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167982	64167982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:64167982C>T	uc003ttd.3	+	6	2086	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	ZNF107_uc003tte.3_Missense_Mutation_p.H434Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGGAGA	0.353000														44			18		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179297444	179297444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:179297444G>A	uc003mlh.3	-	15	2571	c.2536C>T	c.(2536-2538)Cgt>Tgt	p.R846C	TBC1D9B_uc003mli.3_Missense_Mutation_p.R846C|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R846C|TBC1D9B_uc003mlg.3_Missense_Mutation_p.R22C|TBC1D9B_uc011dgv.2_Missense_Mutation_p.R22C|TBC1D9B_uc011dgw.1_Missense_Mutation_p.R22C|TBC1D9B_uc003mlk.1_Missense_Mutation_p.R4C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	846						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTCCCGACGGCCGGCCATT	0.662000														33			17		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480253	10480253	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10480253C>T	uc003wtc.3	-	1	688	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	153					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCAGCAGTATCCTCCGGGGGG	0.577000														75			54		0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567446	5567446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:5567446G>A	uc001iie.1	+	0	523	c.398G>A	c.(397-399)gGa>gAa	p.G133E	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	133	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GACACGGACGGAGACGGACAG	0.672000														29			16		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929125	51929126	+	Missense_Mutation	DNP	GG	AA	AA	rs143846209	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51929125_51929126GG>AA	uc003dbv.3	-	3	496_497	c.398_399CC>TT	c.(397-399)tcc>tTT	p.S133F	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	133	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCGGGCCTGGGACTGCAGTGT	0.619000														99			40		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451458	48451458	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48451458C>T	uc003csw.2	-	31	5904	c.5634G>A	c.(5632-5634)gaG>gaA	p.E1878E	PLXNB1_uc003cst.2_Silent_p.E328E|PLXNB1_uc003csu.2_Silent_p.E1695E|PLXNB1_uc003csx.2_Silent_p.E1878E	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1878					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGATGCCCCCCTCATCTACAT	0.692000														40			20		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151780050	151780050	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151780050G>A	uc001ezh.3	-	10	1563	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	RORC_uc001ezg.3_Silent_p.I464I|RORC_uc010pdo.2_Silent_p.I539I|RORC_uc010pdp.2_Silent_p.I473I|LINGO4_uc001ezf.1_5'Flank	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	485	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGCTGGAAGATCTGCAGCC	0.567000														71			31		0	0	1	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														45			25		0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327526	28327526	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28327526C>T	uc010jrc.3	+	2	496	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	ZKSCAN3_uc003nle.4_Missense_Mutation_p.P55S|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	55	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						CTTCCGCTACCCGGAGGCTGC	0.637000														46			32		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530710	80530710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:80530710C>T	uc021vjt.1	-	0	235	c.235G>A	c.(235-237)Gag>Aag	p.E79K	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.E79K	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	79						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCGCAGCTCCGAGAGGCTG	0.637000										HNSCC(69;0.2)				69			48		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3126851G>A	uc002klp.3	-	18	3173	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_uc002klq.3_Missense_Mutation_p.R851C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423000														17			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579180	179579180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179579180C>T	uc021vsy.1	-	87	22814	c.22589G>A	c.(22588-22590)gGa>gAa	p.G7530E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4191E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8457	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGATTTCTCCCTTATCTTT	0.408000														27			9		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49224982	49224982	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49224982G>A	uc010zyt.2	-	10	1151	c.900C>T	c.(898-900)atC>atT	p.I300I	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.I296I|FAM65C_uc002xvn.1_Silent_p.I296I	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	296										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						TGTCCACCACGATGACCTGCG	0.662000														132			67		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70590141	70590141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70590141G>A	uc002ezf.3	+	13	1981	c.1770G>A	c.(1768-1770)atG>atA	p.M590I		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	590					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGTGTGCATGAGTCTGGCCA	0.537000														149			35		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196748950	196748950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:196748950G>A	uc001gtl.3	+	2	364	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.E93K|CFHR1_uc010poy.2_Missense_Mutation_p.E93K|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	93	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCCTTATTTGGAAAATGGATA	0.318000														12			9		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141560538	141560538	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:141560538G>A	uc010ioj.3	-	13	2654	c.2382C>T	c.(2380-2382)ttC>ttT	p.F794F		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	794						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GTCTCTGTTTGAATCTCATCT	0.428000														11			5		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50473723	50473723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50473723G>A	uc001rvv.3	+	7	1319	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ASIC1_uc001rvw.3_Missense_Mutation_p.E364K|ASIC1_uc009zln.3_Missense_Mutation_p.E155K|ASIC1_uc009zlo.3_Missense_Mutation_p.E364K|ASIC1_uc021qxr.1_Missense_Mutation_p.E398K	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	364					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGCGTGTGTGAAATGCCTTG	0.547000														157			71		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73150386	73150386	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:73150386C>T	uc022avu.1	-	5		c.786G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		CTGGCTTTCCCGTTATCCACA	0.403000														14			21		0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563600	55563600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55563600C>T	uc010rim.2	+	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V189V(1)|p.V189L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATCTCTGTGTCTGGCTCTGAT	0.448000														134			54		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879777	39879778	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39879777_39879778GG>AA	uc002old.3	-	6	697_698	c.522_523CC>TT	c.(520-525)agccag>agTTag	p.Q175*	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Nonsense_Mutation_p.Q165*|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	175					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GCTGTGATCTGGCTATCCCTGT	0.505000														113			68		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672529	117672529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117672529C>T	uc001twn.2	-	21	3889	c.3178G>A	c.(3178-3180)Ggg>Agg	p.G1060R	NOS1_uc021ren.1_Missense_Mutation_p.G690R|NOS1_uc021reo.1_Missense_Mutation_p.G690R|NOS1_uc001twm.2_Missense_Mutation_p.G1026R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1026	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCTGGCTCCCGTTGGTGTGG	0.577000														29			15		0	0	1	0	0
SGK196	84197	broad.mit.edu	37	8	42977920	42977920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:42977920C>T	uc003xpw.2	+	4	1212	c.953C>T	c.(952-954)cCc>cTc	p.P318L		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	318	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										AGCCAGACTCCCTCAGAAAGA	0.488000														97			47		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219126	1219126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:1219126G>A	uc003jbw.4	+	8	1338	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	428					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTTCTGCCTGGGGCTGTCATC	0.587000														20			19		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170782	100170782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:100170782C>T	uc002taf.3	-	22	3769	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	AFF3_uc002tag.3_Missense_Mutation_p.E1184K	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1184					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCTCGGTTTTCCTTGGCCAGG	0.622000														85			48		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99870699	99870699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:99870699C>T	uc002szw.1	-	1	138	c.25G>A	c.(25-27)Gga>Aga	p.G9R	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.G9R|LYG2_uc002szx.1_Missense_Mutation_p.G9R	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	9					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GCAATTAGTCCCCAAAACACC	0.418000														58			33		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99083332	99083332	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:99083332C>T	uc001vnh.3	+	17	2180	c.1941C>T	c.(1939-1941)gcC>gcT	p.A647A	FARP1_uc001vnj.3_Silent_p.A647A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	647	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAGCGAGGCCTTGGAGGCCC	0.587000														17			36		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398588	10398588	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:10398588G>A	uc002gmo.3	-	35	5310	c.5216C>T	c.(5215-5217)tCc>tTc	p.S1739F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1739						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATTTGGGAAATGTCTGT	0.433000														42			57		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28478621	28478621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28478621C>T	uc021yrx.1	-	1	198	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	50					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TACTCCTCGCCGTTGAGGGTG	0.458000														54			30		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26663805	26663805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:26663805G>A	uc001bmd.4	-	9	3860	c.3710C>T	c.(3709-3711)cCa>cTa	p.P1237L	AIM1L_uc001bmf.3_Missense_Mutation_p.P83L	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	192							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGACCAGTCTGGGTATTCCCC	0.617000														73			59		0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926357	128926358	+	Missense_Mutation	DNP	CC	TT	TT	rs149215914		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:128926357_128926358CC>TT	uc004euu.3	+	4	678_679	c.496_497CC>TT	c.(496-498)cct>TTt	p.P166F	SASH3_uc011muo.1_Missense_Mutation_p.P83F	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	166								p.P166S(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GGAGGAACCACCTGCCCCCCAG	0.624000														33			101		0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126505149	126505149	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:126505149C>T	uc001lib.4	+	2	213	c.168C>T	c.(166-168)atC>atT	p.I56I		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	56	MPN-like.			EIH -> QIY (in Ref. 1; BAA09927).		BRISC complex	polyubiquitin binding			NS(1)	1						TTACAGAAATCCATAACCATC	0.289000														37			19		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458822	234458822	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:234458822C>T	uc001hvy.1	+	7	1451	c.1306C>T	c.(1306-1308)Ctg>Ttg	p.L436L	SLC35F3_uc001hwa.1_Silent_p.L367L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	367					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CATCATCGGCCTGGGTTTTCT	0.552000														59			19		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657298	143657298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143657298C>T	uc003wds.1	+	0	279	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AAGTGTAGTCCCTCAGCTGCT	0.502000														337			119		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41010144	41010144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41010144G>A	uc003jmj.4	-	30	3663	c.3173C>T	c.(3172-3174)cCa>cTa	p.P1058L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P613L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1058							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGAGGACTGGCATGTGATG	0.398000														21			15		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251334	25251334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:25251334G>A	uc002dod.4	-	6	3114	c.2707C>T	c.(2707-2709)Cga>Tga	p.R903*	ZKSCAN2_uc010vcl.2_Nonsense_Mutation_p.R699*	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	903					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGATGTTCTCGAAATCTCGTA	0.458000														36			5		0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922608	37922608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37922608G>A	uc002hsu.3	-	7	1027	c.965C>T	c.(964-966)cCc>cTc	p.P322L	IKZF3_uc002htd.3_Missense_Mutation_p.P288L|IKZF3_uc010cwd.3_Missense_Mutation_p.P179L|IKZF3_uc002hsv.3_Missense_Mutation_p.P249L|IKZF3_uc010cwe.3_Missense_Mutation_p.P188L|IKZF3_uc010cwf.3_Missense_Mutation_p.P140L|IKZF3_uc010cwg.3_Missense_Mutation_p.P101L|IKZF3_uc002hsw.3_Missense_Mutation_p.P283L|IKZF3_uc002hsx.3_Missense_Mutation_p.P266L|IKZF3_uc002hsy.3_Missense_Mutation_p.P283L|IKZF3_uc002hsz.3_Missense_Mutation_p.P227L|IKZF3_uc002hta.3_Missense_Mutation_p.P244L|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P235L|IKZF3_uc002htc.3_Missense_Mutation_p.P75L|IKZF3_uc010wel.2_Missense_Mutation_p.P75L	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	322					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGACCAAGGGGCGCAGGGC	0.557000														63			46		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43825277	43825277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43825277C>T	uc010skx.2	-	21	3119	c.3119G>A	c.(3118-3120)gGa>gAa	p.G1040E	ADAMTS20_uc001rno.1_Missense_Mutation_p.G194E|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G194E	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1040	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTGCTTTGTTCCTTTACCACA	0.383000														114			64		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994513	8994513	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8994513G>A	uc002mkp.3	-	63	41583	c.41379C>T	c.(41377-41379)ttC>ttT	p.F13793F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F610F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13795	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGAGGGTGAATAGTATCA	0.448000														50			48		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47860906	47860907	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47860906_47860907GG>AA	uc002zji.4	+	42	9639_9640	c.9532_9533GG>AA	c.(9532-9534)ggg>AAg	p.G3178K	PCNT_uc002zjj.3_Missense_Mutation_p.G2981K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3178	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCCCATTTGGGGGTATTTCCT	0.431000														63			14		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60559994	60559994	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:60559994T>C	uc001jki.1	+	12	1766	c.1766T>C	c.(1765-1767)cTt>cCt	p.L589P	BICC1_uc001jkj.1_Missense_Mutation_p.L230P	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	589					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACTTCATCACTTGGAGAAAAA	0.398000														24			16		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152499777	152499777	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152499777G>A	uc021vrb.1	-	55	8076	c.8047C>T	c.(8047-8049)Cag>Tag	p.Q2683*	NEB_uc002txu.3_Nonsense_Mutation_p.Q2683*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q2683*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q2683*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q2683*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2683					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCAAAATCTGGGTGGCTCGT	0.418000														65			41		0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113576	117113576	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117113576A>T	uc003pxj.1	-	5	2532	c.2510T>A	c.(2509-2511)aTt>aAt	p.I837N	GPRC6A_uc003pxk.1_Missense_Mutation_p.I662N|GPRC6A_uc003pxl.1_Missense_Mutation_p.I766N	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	837					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTACAAATAATAACATAGCA	0.378000														75			50		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89968362	89968362	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89968362G>A	uc003kju.3	+	22	4849	c.4753_splice	c.e22-1	p.I1585_splice	GPR98_uc003kjt.3_Splice_Site|GPR98_uc010jba.2_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1585					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAATTTCAGATTGCAGAGG	0.348000														30			6		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440676	78440676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:78440676C>T	uc001ozl.4	-	21	3614	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1051					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATAGAGATTTCCTCCTGCAAA	0.582000														72			39		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892634	88892634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:88892634C>T	uc001xwq.3	+	5	852	c.431C>T	c.(430-432)tCa>tTa	p.S144L	SPATA7_uc001xwr.3_Missense_Mutation_p.S112L|SPATA7_uc001xws.3_Missense_Mutation_p.S80L|SPATA7_uc001xwt.3_Missense_Mutation_p.S38L	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	144					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						AATGGATTTTCATCCTTTGCA	0.403000														34			4		0	0	1	0	0
C7orf34	135927	broad.mit.edu	37	7	142637478	142637478	+	Missense_Mutation	SNP	C	T	T	rs143475597	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142637478C>T	uc003wca.2	+	1	289	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	58						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TTTGTGGCCTCCTCAGTGGGT	0.552000														67			56		0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49139280	49139280	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49139280G>A	uc003cvx.3	-	7	689	c.684C>T	c.(682-684)gcC>gcT	p.A228A	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Silent_p.A83A|QARS_uc003cvy.3_Silent_p.A83A|QARS_uc011bce.2_Silent_p.A217A|QARS_uc011bcf.1_Silent_p.A228A	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	228					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGAACTTAAGGGCCTCCCCCC	0.557000														26			9		0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1024696	1024696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:1024696G>A	uc003sjq.1	+	2	461	c.448G>A	c.(448-450)Gag>Aag	p.E150K	CYP2W1_uc003sjr.1_Missense_Mutation_p.E150K	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily W, polypeptide 1 (CYP2W1), mRNA.	150					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GATTCTGCAGGAGCTGAAATG	0.706000														17			14		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327666	52327666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52327666G>A	uc002pxt.1	+	1	849	c.665G>A	c.(664-666)gGg>gAg	p.G222E	FPR3_uc021uyq.1_Missense_Mutation_p.G222E	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	222					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GTCTGCTATGGGATCATCGCT	0.473000														20			9		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75171635	75171635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:75171635C>T	uc003yae.3	-	2	1283	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	JPH1_uc003yaf.3_Missense_Mutation_p.D415N|JPH1_uc003yag.1_Missense_Mutation_p.D279N	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	415					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGGTAGAAATCAGGTGACAGC	0.562000														56			58		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187500840	187500840	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187500840C>T	uc002upq.3	+	6	939	c.663C>T	c.(661-663)atC>atT	p.I221I	ITGAV_uc010frs.3_Silent_p.I185I|ITGAV_uc010zfv.2_Silent_p.I175I	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	221					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGGCAGAAATCGTATCTAAAT	0.343000														52			19		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103323718	103323718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:103323718G>A	uc003ykr.2	-	19	2880	c.2425C>T	c.(2425-2427)Ccc>Tcc	p.P809S	UBR5_uc003yks.2_Missense_Mutation_p.P809S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	809					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	RNA binding|protein 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)			AGAATAATGGGAGATTCCTAT	0.358000														61			24		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57194390	57194390	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57194390G>A	uc010kzo.3	-	2	346	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E24K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCTCCAGAGAGAATTCTATAG	0.443000														63			17		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11742532	11742532	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11742532G>A	uc002rbk.1	+	17	2830	c.2530_splice	c.e17-1	p.G844_splice	GREB1_uc002rbo.1_Splice_Site_p.G478_splice	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	844						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTTGTTTTAGGGAGTGGACTT	0.507000														125			64		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153586928	153586928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153586928C>T	uc004fkk.2	-	26	4732	c.4483G>A	c.(4483-4485)Gag>Aag	p.E1495K	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.E1495K	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1495	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCACTGGCTCCACCAGGCCT	0.622000														9			57		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100405193	100405193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100405193C>T	uc003uwn.1	-	12	2619	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	EPHB4_uc003uwm.1_Missense_Mutation_p.G617R|EPHB4_uc010lhj.1_Missense_Mutation_p.G710R	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	710	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGAACTGTCCGTCGTTTAGC	0.597000														113			29		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57489228	57489228	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57489228A>C	uc009vzx.1	-	10	1191	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	DAB1_uc001cyt.1_Missense_Mutation_p.F289V|DAB1_uc001cyq.1_Missense_Mutation_p.F289V|DAB1_uc001cyr.1_Missense_Mutation_p.F205V|DAB1_uc009vzw.1_Missense_Mutation_p.F273V|DAB1_uc001cys.1_Missense_Mutation_p.F291V	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	324					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCAGTGCCGAAAGGTACAGAA	0.512000														14			7		0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585089	44585089	+	Silent	SNP	C	A	A	rs149519388		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:44585089C>A	uc011aqe.2	+	5	767	c.343C>A	c.(343-345)Cgg>Agg	p.R115R	PARVG_uc003bep.3_Silent_p.R115R|PARVG_uc011aqf.2_Silent_p.R115R|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	115	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGCCGTGAACCGGAGTCTGCA	0.647000														79			3		1	1	1	1	0
RNF180	285671	broad.mit.edu	37	5	63509400	63509400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:63509400G>A	uc003jti.3	+	3	357	c.247G>A	c.(247-249)Gga>Aga	p.G83R	RNF180_uc003jth.4_Missense_Mutation_p.G83R|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	83						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		GTGGACAGTTGGAAAACTGAA	0.413000														146			32		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891482	102891482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:102891482G>A	uc001ylw.2	+	5	1031	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	TECPR2_uc010txw.2_3'UTR|TECPR2_uc010awl.3_Missense_Mutation_p.E269K|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	269							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGCCTTTTGAACTGCACCC	0.547000														24			29		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221224	63221224	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:63221224G>A	uc002jfe.3	+	17	1715	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	RGS9_uc010dem.3_Silent_p.R501R|RGS9_uc002jfd.3_Silent_p.R501R|RGS9_uc002jfg.3_Silent_p.R275R	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	504					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTCCCCCAGGAAGCCTTTCG	0.662000														145			156		0	0	1	0	0
SGK196	84197	broad.mit.edu	37	8	42958731	42958731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:42958731C>T	uc003xpw.2	+	3	299	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	14						integral to membrane	ATP binding|protein kinase activity										AGGCCTCGCCCCCCGAGAGGT	0.542000														95			48		0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96249154	96249154	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:96249154C>T	uc003kmq.3	+	16	3360	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.L884L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.L833L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	884					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GACCCATCTTCTGAAAAAGTT	0.413000														27			4		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44084349	44084349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:44084349C>T	uc001cjr.3	+	25	4760	c.4420C>T	c.(4420-4422)Ctt>Ttt	p.L1474F	PTPRF_uc001cjs.3_Missense_Mutation_p.L1465F|PTPRF_uc001cju.3_Missense_Mutation_p.L863F|PTPRF_uc009vwt.3_Missense_Mutation_p.L1034F|PTPRF_uc001cjv.3_Missense_Mutation_p.L945F|PTPRF_uc001cjw.3_Missense_Mutation_p.L700F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1474	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACCTGTGGCCTTATTCAGGT	0.572000														102			69		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061079	111061079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111061079G>A	uc001dzt.1	-	0	719	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	111						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTCCCAGGAGAGTCTCTGGG	0.473000														48			35		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21544721	21544722	+	Splice_Site	DNP	GG	AA	AA	rs11620774		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21544721_21544722GG>AA	uc001vzp.3	+	7	1866	c.1837_splice	c.e7-1	p.D613_splice	ARHGEF40_uc001vzo.1_Splice_Site|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Splice_Site	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	613					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTGCCCTTAGGACTCAGGAGA	0.515000														69			65		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9164351	9164351	+	Silent	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9164351A>T	uc001mhl.3	-	20	3686	c.3429T>A	c.(3427-3429)ctT>ctA	p.L1143L	DENND5A_uc001mhk.3_Silent_p.L486L|DENND5A_uc010rbw.2_Silent_p.L1143L	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1143	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGCCGAGACAAGGCCACACT	0.552000														60			30		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107705000	107705000	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:107705000C>T	uc011lht.2	+	5	672	c.573C>T	c.(571-573)ttC>ttT	p.F191F	OXR1_uc022azp.1_Silent_p.F190F|OXR1_uc003ymf.3_Silent_p.F190F|OXR1_uc011lhu.2_Silent_p.F183F|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Silent_p.F123F|OXR1_uc003ymi.1_Silent_p.F102F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	191					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.F191L(1)|p.F102L(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CATCTACTTTCACTGGTATTC	0.323000														33			29		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128712758	128712758	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128712758G>A	uc010fmd.2	-	15	2434	c.2302C>T	c.(2302-2304)Ccc>Tcc	p.P768S	SAP130_uc002tpn.2_Missense_Mutation_p.P493S|SAP130_uc002tpp.2_Missense_Mutation_p.P733S|SAP130_uc002tpq.1_Missense_Mutation_p.P741S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	733	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTGACGGGGGACTGGCTGCT	0.562000														101			43		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771924	157771924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:157771924C>T	uc001frg.3	-	4	780	c.667G>A	c.(667-669)Gat>Aat	p.D223N	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.D223N|FCRL1_uc001fri.3_Missense_Mutation_p.D223N|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	223	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCAGCACATCCTCCACTGCA	0.592000														41			37		0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157798	26157798	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:26157798G>A	uc022bub.1	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R	MAGEB18_uc004dbq.2_Silent_p.R232R	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	232	MAGE.						protein binding	p.D231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ATGCCGATAGGAAGCACTTCC	0.493000														6			16		0	0	1	0	0
PMP2	5375	broad.mit.edu	37	8	82357140	82357140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:82357140C>T	uc003ycb.1	-	1	256	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	PMP2_uc010lzv.1_Intron	NM_002677	NP_002668	P02689	MYP2_HUMAN	Homo sapiens peripheral myelin protein 2 (PMP2), mRNA.	53						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			ACTTTCAGTTCGTATAGTTAT	0.378000														48			27		0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100056660	100056660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:100056660C>T	uc003pqg.1	+	1	449	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	63	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TCGGGGGGCTCCCCTCTGGAG	0.612000														45			24		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580518	82580518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82580518G>A	uc003uhx.2	-	5	9675	c.9386C>T	c.(9385-9387)tCa>tTa	p.S3129L	PCLO_uc003uhv.2_Missense_Mutation_p.S3129L|PCLO_uc010lec.3_Missense_Mutation_p.S94L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3060					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCAGGTAATGAAGTCACTGC	0.448000														34			12		0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163042242	163042242	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:163042242A>G	uc001gcl.4	+	2	722	c.393A>G	c.(391-393)gaA>gaG	p.E131E	RGS4_uc009wuy.3_Silent_p.E34E|RGS4_uc009wuz.3_Silent_p.E34E|RGS4_uc009wva.3_Silent_p.E16E	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	34	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						ATTCCTGTGAACACAATTCTT	0.373000														40			34		0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510431	9510431	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9510431C>T	uc002wni.2	+	5	1302	c.807C>T	c.(805-807)atC>atT	p.I269I	LAMP5_uc010zrc.2_Silent_p.I225I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	269						integral to membrane											AGGTGCAGATCCCTCGGGACA	0.547000														52			34		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19485449	19485449	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19485449C>T	uc002dgc.4	+	11	2690	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TMC5_uc010vaq.2_Silent_p.F595F|TMC5_uc002dgb.4_Silent_p.F647F|TMC5_uc010var.2_Silent_p.F647F|TMC5_uc002dgd.1_Silent_p.F401F|TMC5_uc002dge.4_Silent_p.F401F|TMC5_uc002dgf.4_Silent_p.F330F|TMC5_uc002dgg.4_Silent_p.F288F	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	647						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCCTGCAGTTCCTGAAGACAC	0.522000														173			54		0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152165	66152165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:66152165G>A	uc001sso.3	-	1	779	c.358C>T	c.(358-360)Cct>Tct	p.P120S						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		GTCTCTTCAGGATCTCTGTAG	0.478000														12			3		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825009	52825009	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:52825009A>C	uc010ydl.2	+	4	576	c.506A>C	c.(505-507)gAa>gCa	p.E169A	ZNF480_uc002pyv.3_Missense_Mutation_p.E92A|ZNF480_uc010ydm.2_Missense_Mutation_p.E126A|ZNF480_uc010epn.3_5'UTR|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTCTTCAAGAAATGTCTTCC	0.363000														31			26		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629639	48629639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48629639G>A	uc003ctz.2	-	8	1137	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	379	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAACACTGAACCCTGCCC	0.647000														91			58		0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106849459	106849459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:106849459C>T	uc009yxn.1	-	2	763	c.373G>A	c.(373-375)Gat>Aat	p.D125N	GUCY1A2_uc001pjg.1_Missense_Mutation_p.D125N|GUCY1A2_uc010rvo.1_Missense_Mutation_p.D125N	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	125					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTTTCTGCATCCCTGTAACTA	0.383000														24			10		0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64582641	64582641	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:64582641G>A	uc003dmg.3	-	26	4076	c.4044C>T	c.(4042-4044)tcC>tcT	p.S1348S	ADAMTS9_uc011bfo.2_Silent_p.S1320S|ADAMTS9_uc003dmh.1_Silent_p.S1177S|ADAMTS9_uc011bfp.1_Silent_p.S259S	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1348	TSP type-1 9.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGCCGCTGGGATCCGCCAG	0.493000														97			46		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628557	172628557	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:172628557G>A	uc001gis.3	+	0	373	c.216G>A	c.(214-216)aaG>aaA	p.K72K	FASLG_uc001git.3_Silent_p.K72K	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	72					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						caccCCTGAAGAAGAGAGGGA	0.617000														13			7		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134757	81134757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81134757G>A	uc002fgh.1	-	44	7345	c.7345C>T	c.(7345-7347)Cga>Tga	p.R2449*	PKD1L2_uc002fgf.1_Nonsense_Mutation_p.R251*|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2451	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTGCTGGTCGAGAGTGGCGA	0.582000														46			10		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449476	55449476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55449476C>T	uc002qih.4	-	4	2141	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	NLRP7_uc010esk.3_Missense_Mutation_p.D689N|NLRP7_uc002qig.4_Missense_Mutation_p.D661N|NLRP7_uc002qii.4_Missense_Mutation_p.D689N|NLRP7_uc010esl.3_Missense_Mutation_p.D717N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	689							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACAGAAGAGTCACTCAGGAAG	0.483000														186			56		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166996156	166996156	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:166996156G>A	uc003irh.2	+	17	2961	c.2314_splice	c.e17+1	p.A772_splice	TLL1_uc011cjn.2_Splice_Site_p.A795_splice|TLL1_uc011cjo.2_Splice_Site_p.A596_splice	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	772					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGCAAGGAAGGTATGGAACGG	0.398000														149			76		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120481508	120481508	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:120481508G>T	uc003idh.3	-	6	1297	c.1142C>A	c.(1141-1143)tCt>tAt	p.S381Y	PDE5A_uc003idf.3_Missense_Mutation_p.S339Y|PDE5A_uc003idg.3_Missense_Mutation_p.S329Y	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	381	GAF 2.			S -> F (in Ref. 9; AAP31235).	platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323000														39			22		6.32553e-13	6.38614e-13	1	1	0
TLL2	7093	broad.mit.edu	37	10	98155086	98155086	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:98155086G>A	uc001kml.2	-	12	1825	c.1584C>T	c.(1582-1584)ccC>ccT	p.P528P	TLL2_uc009xvf.2_Silent_p.P506P	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	528	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCTCTTCCGTGGGGCCATCCC	0.517000														57			26		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685951	100685951	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100685951A>G	uc003uxp.1	+	2	11307	c.11254A>G	c.(11254-11256)Agc>Ggc	p.S3752G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3752	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATGGAAATAAGCACCCTTGG	0.478000														274			83		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072354	75072354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:75072354C>T	uc001dgg.3	-	9	1639	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E268K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	474	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTGTCATTTCCTCCACAGCA	0.358000														71			42		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762824	20762824	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:20762824A>G	uc010kuh.3	+	20	2844	c.2607A>G	c.(2605-2607)gaA>gaG	p.E869E	ABCB5_uc003suw.4_Silent_p.E424E|ABCB5_uc003sux.1_Silent_p.E47E	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	424					regulation of membrane potential	Golgi membrane|apical plasma 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						ATAAGCAAGAACTTAAGCATG	0.368000														38			10		0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478120	125478120	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:125478120C>T	uc001qcd.2	+	8	1007	c.897C>T	c.(895-897)ttC>ttT	p.F299F	STT3A_uc009zbm.2_Silent_p.F299F|STT3A_uc001qce.2_Silent_p.F299F|STT3A_uc010sbg.1_Silent_p.F207F|STT3A_uc009zbn.2_Silent_p.F73F	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	299					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		AAGTTCTTTTCCGGAGCGTCA	0.493000														39			26		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142779434	142779434	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:142779434A>T	uc003lnd.3	-	1	1965	c.971T>A	c.(970-972)gTg>gAg	p.V324E	NR3C1_uc003lmy.3_Missense_Mutation_p.V324E|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.V324E|NR3C1_uc003lnb.3_Missense_Mutation_p.V324E|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.V324E|NR3C1_uc003lne.3_Missense_Mutation_p.V324E|NR3C1_uc003lnc.3_Missense_Mutation_p.V324E|NR3C1_uc021yfa.1_Missense_Mutation_p.V324E|NR3C1_uc021yfb.1_Missense_Mutation_p.V324E|NR3C1_uc003lng.2_Missense_Mutation_p.V324E|NR3C1_uc003lni.2_Missense_Mutation_p.V324E	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	324	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AGAGGTACTCACACCATGAAC	0.403000														64			55		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55136144G>A	uc010rif.2	+	0	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000														60			25		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81293407	81293407	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81293407C>T	uc002fgn.1	+	2	538	c.320C>T	c.(319-321)tCc>tTc	p.S107F	BCMO1_uc002fgm.1_Missense_Mutation_p.S107F|BCMO1_uc010vnp.1_Intron	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	107					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AACATATTTTCCAAGTAACTG	0.408000														90			19		0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144354740	144354740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144354740C>T	uc003ijd.3	+	2	823	c.464C>T	c.(463-465)tCt>tTt	p.S155F	GAB1_uc003ije.3_Missense_Mutation_p.S155F|GAB1_uc011chq.2_Missense_Mutation_p.S52F	NM_207123	NP_997006	Q13480	GAB1_HUMAN	Homo sapiens GRB2-associated binding protein 1 (GAB1), transcript variant 1, mRNA.	155					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GATTCATCCTCTGCTACTCTA	0.483000														61			39		0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94220954	94220954	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:94220954G>A	uc001kia.3	-	21	2893	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	IDE_uc010qnp.2_Silent_p.F384F|IDE_uc001khz.3_Silent_p.F384F	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	939					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTACCTTGTAGAATTTGATGA	0.328000														18			7		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400639	11400639	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:11400639G>A	uc001mjo.2	-	3	1189	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	256	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		AGCCCACATTGAACTCCACGT	0.597000														20			7		0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505798	60505799	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:60505798_60505799GG>AA	uc001czs.2	-	4	645_646	c.537_538CC>TT	c.(535-540)gccctg>gcTTtg	p.179_180AL>AL		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	179							calcium ion binding	p.L180L(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCTGACCAGGGCAAGAAGAA	0.436000														46			17		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74922121	74922121	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:74922121G>A	uc002fdh.1	-	21	2394	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P	WDR59_uc002fdf.1_Silent_p.P209P|WDR59_uc002fdg.1_Silent_p.P356P	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	764										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGGCCCAAAGGGGTTTGGTA	0.468000														38			13		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987468	35987468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35987468C>T	uc003olm.3	-	1	128	c.17G>A	c.(16-18)aGg>aAg	p.R6K	SLC26A8_uc003oll.3_Missense_Mutation_p.R6K|SLC26A8_uc003oln.3_Missense_Mutation_p.R6K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	6					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.R6R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GATGGCGCTCCTCTCTAGTTG	0.423000														25			11		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180726	142180726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142180726C>T	uc011krz.2	-	1	182	c.133G>A	c.(133-135)Gat>Aat	p.D45N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.D45N|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGTTCATATCCTGGGCACAC	0.512000														629			81		0	0	1	0	0
ARGFX	503582	broad.mit.edu	37	3	121305072	121305072	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121305072G>A	uc003eef.3	+	4	668	c.573G>A	c.(571-573)tgG>tgA	p.W191*		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	191						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W191*(2)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ATTGGGCATGGAACTCTACCT	0.502000														97			48		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207604347	207604347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207604347C>T	uc002vbs.3	-	10	1553	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.E499K	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	500					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGTGGCTTTTCAAAGGTGGTT	0.343000														26			17		0	0	1	0	0
GK5	256356	broad.mit.edu	37	3	141884533	141884533	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:141884533T>C	uc003euq.2	-	15	1673	c.1521A>G	c.(1519-1521)gaA>gaG	p.E507E	GK5_uc003eup.1_Silent_p.E228E|GK5_uc010hus.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	507					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TCATTTCATATTCTTGACATT	0.363000														45			111		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183210300	183210300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:183210300C>T	uc003flr.3	-	5	1604	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	516										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGATGCGGTCCCGGAAACTC	0.522000														26			51		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043849	20043849	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20043849G>A	uc002dgu.1	-	1	432	c.270C>T	c.(268-270)ttC>ttT	p.F90F	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	90						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTTCAAGATGAAATCTTCCA	0.463000														30			10		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201572	248201572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248201572G>A	uc001idw.3	+	0	99	c.3G>A	c.(1-3)atG>atA	p.M1I	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AATTCCCCATGGAAAATTACA	0.388000														66			31		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334613	142334613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142334613C>T	uc003vzp.2	+	1	90	c.35C>T	c.(34-36)tCc>tTc	p.S12F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Missense_Mutation_p.S13F|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TCAGCAGGCTCCGGGCTTGGT	0.592000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			27		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671547	49671547	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:49671547G>C	uc002efs.3	-	4	1814	c.1516C>G	c.(1516-1518)Ccc>Gcc	p.P506A	ZNF423_uc010vgn.2_Missense_Mutation_p.P389A	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	506					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGGCGTTGGGGCCGCAGTGG	0.572000														35			21		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117352743	117352743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117352743C>T	uc001prh.1	-	11	2676	c.2674G>A	c.(2674-2676)Gac>Aac	p.D892N		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	832	Fibronectin type-III 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGACGCGGTCAGGGTCGATG	0.632000														66			15		0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895747	56895748	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56895747_56895748CC>TT	uc002qmy.3	-	4	1424_1425	c.1131_1132GG>AA	c.(1129-1134)aaggct>aaAAct	p.A378T	ZNF582_uc002qmz.1_Missense_Mutation_p.A347T	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGATTAAAAGCCTTCCCACATT	0.421000														67			48		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135012301	135012301	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135012301C>T	uc001llz.1	+	13	2290	c.2289C>T	c.(2287-2289)ccC>ccT	p.P763P	KNDC1_uc001lma.1_Silent_p.P698P|KNDC1_uc001lmb.1_Silent_p.P175P	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	763	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCCTCCACCCCAGGCCCCAG	0.731000														15			4		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55078355	55078355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:55078355G>A	uc001cxn.3	-	4	736	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	202						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GTAGCCTTGGGATACTTCTCC	0.567000														59			37		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56581115	56581115	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56581115A>G	uc002iwj.2	-	14	1911	c.1801T>C	c.(1801-1803)Tct>Cct	p.S601P		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	601						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.R600S(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTCCAGAGAGCGGCCAGAG	0.473000														126			48		0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203630259	203630259	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:203630259C>T	uc010zhx.2	+	7	1552	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	514										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CTTTCTGCCTCGTCAGCATCC	0.493000														123			51		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420522	11420522	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11420522G>A	uc001qzs.3	-	2	699	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	221	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.627000														278			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179408277	179408277	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179408277G>A	uc021vsy.1	-	295	88944	c.88719C>T	c.(88717-88719)atC>atT	p.I29573I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I23268I|TTN_uc021vta.1_Silent_p.I23201I|TTN_uc021vtb.1_Silent_p.I23076I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30500	Ig-like 135.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTCAACGATGTAATTGT	0.413000														18			5		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521821	31521821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31521821C>T	uc003aju.4	+	1	1188	c.1096C>T	c.(1096-1098)Cct>Tct	p.P366S	INPP5J_uc010gwf.3_Missense_Mutation_p.P366S|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_5'UTR|INPP5J_uc003ajs.4_5'UTR|INPP5J_uc011alk.2_Missense_Mutation_p.P299S|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	366	Pro-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						TCCCCCAGCCCCTGACATGGC	0.667000														19			4		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62018265	62018265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:62018265C>T	uc002jds.1	-	23	5454	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1793					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCCTTCTCCTCCGGGCTTGGC	0.672000														44			17		0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24742541	24742541	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:24742541A>G	uc004dbl.3	+	11	1287	c.1272A>G	c.(1270-1272)aaA>aaG	p.K424K	POLA1_uc004dbm.3_Silent_p.K430K	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	424					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TAGCAACAAAATATAAAATTA	0.303000														14			35		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156834561	156834561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156834561C>T	uc001fqh.1	+	2	385	c.329C>T	c.(328-330)gCc>gTc	p.A110V	NTRK1_uc001fqf.1_Missense_Mutation_p.A80V|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.A110V|NTRK1_uc009wsk.1_Missense_Mutation_p.A110V	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	110					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCGCCAGATGCCTTCCATTTC	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				32			30		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99786792	99786792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:99786792G>A	uc001pga.3	+	6	1088	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CNTN5_uc009ywv.2_Missense_Mutation_p.G195E|CNTN5_uc001pfz.3_Missense_Mutation_p.G195E|CNTN5_uc021qpb.1_Missense_Mutation_p.G195E|CNTN5_uc021qpc.1_Missense_Mutation_p.G121E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	195					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G195E(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACAGATCTGGGAAATTTTAGT	0.423000														10			5		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96238358	96238358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:96238358C>T	uc001vmk.3	-	20	3103	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	DZIP1_uc001vmj.3_Missense_Mutation_p.E227K|DZIP1_uc001vml.3_Missense_Mutation_p.E732K|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	751					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACATCTTTTCAACTTTTTCA	0.308000														5			16		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3483043	3483043	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3483043C>T	uc002qxm.1	+	11	2225	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	TRAPPC12_uc002qxn.1_Silent_p.S673S|TRAPPC12_uc010ewm.1_Intron	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	673							binding										TCAAGGACTCCCTGCGGCAGC	0.622000														73			40		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078618	157078618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:157078618C>T	uc003lxb.1	-	0	811	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	SOX30_uc003lxc.1_Missense_Mutation_p.E157K|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	157					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGACCGGTTTCGACGGCCCCT	0.677000														19			14		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36116662	36116662	+	Missense_Mutation	SNP	G	A	A	rs139593449		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36116662G>A	uc003aof.3	+	1	103	c.103G>A	c.(103-105)Gga>Aga	p.G35R		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	35					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGTAATCTACGGAGGTGAGGT	0.507000														35			8		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419581	123419581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:123419581C>T	uc003ego.3	-	17	3016	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	MYLK_uc011bjw.2_Missense_Mutation_p.E912K|MYLK_uc003egp.3_Missense_Mutation_p.E843K|MYLK_uc003egq.3_Missense_Mutation_p.E912K|MYLK_uc003egr.3_Missense_Mutation_p.E843K|MYLK_uc003egs.3_Missense_Mutation_p.E736K|MYLK_uc003egt.3_Missense_Mutation_p.E103K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	912	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTCGTCTTCCGATAGGGTC	0.582000														74			31		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2987314	2987314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2987314C>T	uc002csd.3	+	6	2069	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L	FLYWCH1_uc002csb.3_Missense_Mutation_p.P568L|FLYWCH1_uc002csc.3_Missense_Mutation_p.P568L|FLYWCH1_uc010bsv.3_Missense_Mutation_p.P293L|FLYWCH1_uc002cse.3_Missense_Mutation_p.P24L	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	569						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						TGCCACCCACCGGACCTGGGC	0.726000														5			14		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	80971341	80971342	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:80971341_80971342CC>TT	uc001xux.2	-	22	3265_3266	c.3094_3095GG>AA	c.(3094-3096)ggt>AAt	p.G1032N	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	1032						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AGTGTGGGAACCTTCCAGAAAG	0.431000														17			14		0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541147	5541147	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:5541147G>A	uc001iic.2	-	0	387	c.255C>T	c.(253-255)gtC>gtT	p.V85V		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	85	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CGCGGAAGGCGACCTGCAGGT	0.697000														33			13		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202073875	202073875	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:202073875C>T	uc002uxj.1	+	8	1423	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.V268V|CASP10_uc002uxk.1_Silent_p.V292V|CASP10_uc002uxl.2_Silent_p.V335V|CASP10_uc002uxm.2_Silent_p.V292V	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	335					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						TGGAGATGGTCCTGCAGAAGC	0.468000														129			39		0	0	1	0	0
VIP	7432	broad.mit.edu	37	6	153076450	153076450	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:153076450C>G	uc003qpe.3	+	3	449	c.277C>G	c.(277-279)Ctc>Gtc	p.L93V	VIP_uc003qpf.3_Missense_Mutation_p.L93V|VIP_uc010kjd.3_Missense_Mutation_p.L93V	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	93					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CTTCAGTAAACTCTTGGGTCA	0.313000														55			21		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652372	121652372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:121652372C>T	uc003vjy.3	+	11	3667	c.3272C>T	c.(3271-3273)tCc>tTc	p.S1091F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1091					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTCTGTTTCCATTTCTAGC	0.388000														77			31		0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805651	96805651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96805651C>T	uc001kkb.3	-	5	972	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C8_uc010qoa.2_Missense_Mutation_p.D223N|CYP2C8_uc010qoc.2_Missense_Mutation_p.D191N|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.D207N|CYP2C8_uc021pwl.1_Missense_Mutation_p.D223N|CYP2C8_uc010qod.1_Missense_Mutation_p.D207N	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	293					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ACAAATAGATCAGCTACAGTG	0.433000														53			26		0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	8064536	8064536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:8064536G>A	uc003mxy.3	-	0	112	c.74C>T	c.(73-75)tCc>tTc	p.S25F	TXNDC5_uc003mxw.3_5'UTR|TXNDC5_uc010job.3_Non-coding_Transcript|TXNDC5_uc010joc.3_5'UTR|TXNDC5_uc021ylf.1_Missense_Mutation_p.S25F|TXNDC5_uc021ylg.1_Intron	NM_201280	NP_958437	Q8NBS9	TXND5_HUMAN	Homo sapiens muted homolog (mouse) (MUTED), transcript variant 1, mRNA.	0					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					AGTCCCCAGGGAGTCCCTCTT	0.667000														40			27		0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27269235	27269235	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:27269235T>C	uc001bng.1	+	4	630	c.514T>C	c.(514-516)Tac>Cac	p.Y172H	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	172	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CCTGCCCAATTACCGCTGGAC	0.567000														32			21		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706374	241706374	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:241706374C>A	uc010fzk.3	-	18	1889	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	KIF1A_uc002vzy.3_Nonsense_Mutation_p.E539*|KIF1A_uc002vzz.2_Nonsense_Mutation_p.E548*	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	539	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.E539K(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGCAGTGCTCCTCCTTGATG	0.652000														24			15		1.67942e-08	1.69203e-08	1	1	0
PICK1	9463	broad.mit.edu	37	22	38468552	38468552	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:38468552A>T	uc003auq.3	+	8	1015	c.625A>T	c.(625-627)Aag>Tag	p.K209*	PICK1_uc003aur.3_Nonsense_Mutation_p.K209*|PICK1_uc003aus.3_Nonsense_Mutation_p.K209*|PICK1_uc003aut.3_Nonsense_Mutation_p.K209*	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	209	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGCTTTTGTGAAGTTCGCCGA	0.592000														80			34		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105072	160105072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:160105072G>A	uc001fvc.3	+	14	2234	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	ATP1A2_uc001fvb.2_Missense_Mutation_p.G701E|ATP1A2_uc001fvd.3_Missense_Mutation_p.G437E	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	701					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGGAGGGATGTCAGAGG	0.582000														132			51		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57649966	57649966	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57649966C>T	uc002qnz.1	-	3	402	c.16_splice	c.e3-1	p.G6_splice		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G6R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCACTCTTCCCTGTAACAAC	0.478000														70			49		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119338110	119338110	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:119338110C>T	uc003pyj.3	-	5	1681	c.1333_splice	c.e5-1	p.K445_splice	FAM184A_uc003pyk.4_Splice_Site_p.K325_splice|FAM184A_uc003pyl.4_Splice_Site_p.K325_splice	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	445										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CATTTACTTTCTAAAATTAAA	0.323000														21			9		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662177	57662177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57662177G>A	uc009zpm.1	-	15	1932	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.P328S|R3HDM2_uc001snr.2_Missense_Mutation_p.P360S|R3HDM2_uc001sns.2_Missense_Mutation_p.P633S|R3HDM2_uc001snt.2_Missense_Mutation_p.P647S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	633	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGCTCACAGGGACCAGCATG	0.557000														84			43		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137676865	137676865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:137676865G>A	uc004cfe.3	+	29	2897	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	839	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCCCAGGGGAGAAGATGGCCC	0.622000														29			25		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62153757	62153757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:62153757C>T	uc003dlb.3	+	7	1672	c.953C>T	c.(952-954)tCc>tTc	p.S318F	PTPRG_uc003dlc.3_Missense_Mutation_p.S318F	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	318	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGGGTGGTGTCCAAGTCCGCC	0.507000														62			27		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126299111	126299111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126299111C>T	uc001qea.3	-	14	2130	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	KIRREL3_uc001qeb.3_Missense_Mutation_p.R578Q|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	590					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CTCACCCTCCCGACCAGAGGC	0.493000														23			10		0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91968598	91968598	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:91968598G>A	uc010fho.1	+	1		c.929G>A								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GAAAACAAGCGGACCGTCATC	0.677000														86			22		0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83222244	83222244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83222244C>T	uc002bit.3	-	6	1353	c.1216G>A	c.(1216-1218)Ggc>Agc	p.G406S	CPEB1_uc002bir.3_Missense_Mutation_p.G271S|CPEB1_uc002bis.3_Missense_Mutation_p.G271S|CPEB1_uc010uod.2_Missense_Mutation_p.G120S|CPEB1_uc002biq.3_Missense_Mutation_p.G271S|CPEB1_uc010uoe.2_Missense_Mutation_p.G349S|CPEB1_uc002biu.3_Missense_Mutation_p.G373S|CPEB1_uc010uof.2_Missense_Mutation_p.G271S|CPEB1_uc002biv.3_Missense_Mutation_p.G346S|CPEB1_uc002bip.3_Missense_Mutation_p.G120S	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 1 (CPEB1), transcript variant 2, mRNA.	346	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	RNA binding|nucleotide binding	p.Q406*(2)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATGCTTGCCATCCTTACCA	0.458000														50			20		0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815453	95815453	+	Silent	SNP	G	A	A	rs140564139		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:95815453G>A	uc002sud.1	-	4	1367	c.996C>T	c.(994-996)ccC>ccT	p.P332P	ZNF514_uc002sue.1_Silent_p.P259P	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGCATTCATAGGGCTTTTCTC	0.418000														74			34		0	0	1	0	0
LOC100124692	100124692	broad.mit.edu	37	7	141896609	141896609	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141896609G>A	uc003vxa.2	+	12		c.1545G>A								Homo sapiens maltase-glucoamylase (alpha-glucosidase) pseudogene (LOC100124692), non-coding RNA.																		AACAACATCGGGACAAGGGTG	0.438000														16			16		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136997	8136997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8136997C>T	uc002mjf.3	-	61	8040	c.8023G>A	c.(8023-8025)Gaa>Aaa	p.E2675K	FBN3_uc002mje.3_Missense_Mutation_p.E471K	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2675						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.E2675G(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTTGCATTCGTAGCAGGCT	0.662000														149			15		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778810	18778810	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18778810C>T	uc002njz.1	+	2	630	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	201	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGAGGATTTCCTGCGCCTGC	0.662000														39			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731925	140731925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140731925C>T	uc003ljo.2	+	0	2098	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.L700F|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	706					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCTCTTTCTCCTCGCGGT	0.607000														182			30		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28863814	28863814	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28863814A>G	uc002rmb.2	+	56	4164	c.4120A>G	c.(4120-4122)Act>Gct	p.T1374A	PLB1_uc010ezj.2_Missense_Mutation_p.T1363A|PLB1_uc002rme.2_Missense_Mutation_p.T339A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1374	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGGCCGCAAGACTACCTCCAA	0.577000														32			17		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380671	124380671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124380671G>A	uc001lgk.1	+	40	5102	c.4996G>A	c.(4996-4998)Gat>Aat	p.D1666N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1656N|DMBT1_uc001lgm.1_Missense_Mutation_p.D1038N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1666N|DMBT1_uc021qag.1_Missense_Mutation_p.D1656N|DMBT1_uc021qah.1_Missense_Mutation_p.D1038N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1666N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.D369N|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1666	SRCR 13.				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	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein 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)				AACCGTGTGTGATGACAGCTG	0.607000														302			134		0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739578	44739578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44739578G>A	uc002oyu.3	+	5	1200	c.995G>A	c.(994-996)gGa>gAa	p.G332E	ZNF227_uc010xwu.2_Missense_Mutation_p.G281E|ZNF227_uc002oyv.3_Missense_Mutation_p.G332E|ZNF227_uc010xwv.2_Missense_Mutation_p.G281E|ZNF227_uc010xww.2_Missense_Mutation_p.G253E|ZNF227_uc002oyw.3_Missense_Mutation_p.G304E|ZNF227_uc010ejh.3_Missense_Mutation_p.G325E|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TGCGGCAAGGGATTCAGTAGC	0.393000														50			30		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420585	11420585	+	Missense_Mutation	SNP	G	A	A	rs71057716		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:11420585G>A	uc001qzs.3	-	2	636	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	200	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(2)|p.R179C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCCGGACGAGGTGGGGGA	0.637000														384			123		0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119623203	119623203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:119623203C>T	uc003pym.1	-	3	1208	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	MAN1A1_uc010kei.2_Missense_Mutation_p.E279K	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	256					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCTTCAAATTCATGTTTCATT	0.274000														15			12		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175863	57175863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57175863G>A	uc010ygn.2	-	1	931	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TATCAGGGACGAGCGGTTGCG	0.697000														25			27		0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161049390	161049390	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161049390G>A	uc001fxo.2	-	1	728	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	143	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCAGCACTCGGAGCCGCAGCC	0.667000														17			14		0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223794	67223794	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67223794T>G	uc001olo.3	+	2	499	c.422T>G	c.(421-423)tTt>tGt	p.F141C	CABP4_uc001oln.3_Missense_Mutation_p.F36C	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	141	EF-hand 1.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTCGAGGAGTTTGACACTGAC	0.652000														84			28		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102644468	102644468	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:102644468T>C	uc010mbu.3	+	10	1690	c.1360T>C	c.(1360-1362)Ttg>Ctg	p.L454L		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	454						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGATGGGAAGTTGGCTGCCAT	0.428000											OREG0018909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			72		0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73646450	73646450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:73646450G>A	uc003uaj.3	-	10	1076	c.1051C>T	c.(1051-1053)Ccg>Tcg	p.P351S	RFC2_uc003uak.3_Missense_Mutation_p.P317S	NM_181471	NP_852136	P35250	RFC2_HUMAN	Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA.	351					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CTGGCCACCGGGGCCATTGTC	0.522000														145			141		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69114938	69114938	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:69114938T>C	uc001suf.3	+	14	1407	c.1292T>C	c.(1291-1293)tTa>tCa	p.L431S	NUP107_uc001sug.3_Missense_Mutation_p.L278S|NUP107_uc010stj.2_Missense_Mutation_p.L402S	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	431					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGCAGCTTTAAGTGGGAAT	0.244000														80			47		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64049913	64049913	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:64049913C>T	uc002jfl.3	-	11	1378	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	CEP112_uc010deo.3_Missense_Mutation_p.D129N|CEP112_uc002jfm.3_Missense_Mutation_p.D387N|CEP112_uc010dep.2_Missense_Mutation_p.D345N	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	387						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ACATTTGTATCCTCAAGCAAT	0.388000														197			75		0	0	1	0	0
GALE	2582	broad.mit.edu	37	1	24124654	24124654	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:24124654G>A	uc009vqo.1	-	3	514	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	GALE_uc001bhv.1_Silent_p.L102L|GALE_uc001bhx.1_Silent_p.L102L|GALE_uc001bhz.1_Silent_p.L28L|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	102					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TAATAATCCAGAGGCTTCTGC	0.587000														87			34		0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428000														132			13		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116435009	116435009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:116435009G>A	uc001tvw.3	-	14	2651	c.2596C>T	c.(2596-2598)Ccc>Tcc	p.P866S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	866					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGTGGAGTGGGAAACATCCTT	0.398000														67			32		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179337973	179337973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:179337973C>T	uc001gmo.3	+	2	523	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	AXDND1_uc001gmn.2_Intron|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R4C	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	46										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TATGGTGGATCGTTCAAAACT	0.378000														46			15		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221254	5221254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5221254G>A	uc010qyz.2	-	0	677	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGATGTAGGAGAAAAGGAT	0.448000														31			21		0	0	1	0	0
VWA2	340706	broad.mit.edu	37	10	116046165	116046165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:116046165G>A	uc001lbl.1	+	10	1786	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	VWA2_uc001lbk.1_Missense_Mutation_p.E489K|VWA2_uc009xyf.1_Missense_Mutation_p.E185K	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	489	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGAGCTGGAGGAGATCACAGG	0.632000														77			38		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249950	177249950	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177249950G>A	uc001glf.3	+	7	1950	c.1638G>A	c.(1636-1638)tgG>tgA	p.W546*	FAM5B_uc001glg.3_Nonsense_Mutation_p.W441*	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	546						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCCTTCCTGGAGGAAGCGCA	0.537000														16			9		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19175919	19175920	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19175919_19175920GG>AA	uc001bba.1	-	3	1383_1384	c.1382_1383CC>TT	c.(1381-1383)ccc>cTT	p.P461L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	461					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGCTCTGGAAGGGATTCTGGCT	0.579000														57			24		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32089068	32089068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32089068G>A	uc003nzn.3	-	5	569	c.536C>T	c.(535-537)tCc>tTc	p.S179F	ATF6B_uc003nzo.3_Missense_Mutation_p.S176F|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Missense_Mutation_p.S113F|ATF6B_uc011dph.2_Missense_Mutation_p.S179F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	179					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAGAGCAGGGAGGCCTCAGA	0.527000														25			14		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944110	50944110	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:50944110C>T	uc003blp.2	-	5	940	c.909G>A	c.(907-909)acG>acA	p.T303T	LMF2_uc003blo.2_Silent_p.T278T|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	303						endoplasmic reticulum membrane|integral to membrane		p.T278T(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACAGGTGGCCGTCTTCTTGC	0.642000														40			17		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000613	121000613	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:121000613G>A	uc010rzo.2	+	8	2634	c.2634G>A	c.(2632-2634)tgG>tgA	p.W878*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	878	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGGAAAGCTGGACAACTTTCG	0.562000														70			18		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53085020	53085020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:53085020C>T	uc003xqz.2	-	4	557	c.401G>A	c.(400-402)gGg>gAg	p.G134E	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.G99E|ST18_uc011lds.1_Missense_Mutation_p.G39E|ST18_uc003xra.2_Missense_Mutation_p.G134E|ST18_uc003xrb.2_Missense_Mutation_p.G134E	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	134						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G134G(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCAAATTTCCCCAAGTGCAT	0.388000														50			25		0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10620599	10620599	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:10620599G>A	uc002wnw.2	-	25	3720	c.3204C>T	c.(3202-3204)ttC>ttT	p.F1068F		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1068					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGGGAACAAGGAAATCTGTAA	0.507000									Alagille Syndrome					25			11		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655863	138655863	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:138655863C>T	uc003qhu.3	+	32	6051	c.5880C>T	c.(5878-5880)acC>acT	p.T1960T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1960					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAAAGAAACCCCTTCCGAGG	0.642000														16			13		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416613	204416613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:204416613C>T	uc001haw.3	-	15	2919	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	PIK3C2B_uc010pqv.2_Missense_Mutation_p.E814K	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	814					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGCTGGTCTTCTTCCCGGAGG	0.562000														52			26		0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97424050	97424050	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:97424050C>T	uc010kcm.1	+	2	673	c.201C>T	c.(199-201)ttC>ttT	p.F67F	KLHL32_uc003poy.3_Silent_p.F67F|KLHL32_uc003poz.2_5'UTR|KLHL32_uc011ead.1_Silent_p.F67F|KLHL32_uc011eae.1_Silent_p.F67F	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	67	BTB.							p.Y66C(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GTGACTATTTCCGGGTAAGTC	0.453000														74			35		0	0	1	0	0
UPK1B	7348	broad.mit.edu	37	3	118906709	118906709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:118906709G>A	uc003ecc.3	+	2	246	c.157G>A	c.(157-159)Gat>Aat	p.D53N	UPK1B_uc011bix.2_5'UTR|UPK1B_uc003ecd.3_Missense_Mutation_p.D53N	NM_006952	NP_008883	O75841	UPK1B_HUMAN	Homo sapiens uroplakin 1B (UPK1B), mRNA.	53					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CACCGACAACGATGACATCTA	0.532000														125			91		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889119	38889119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38889119C>T	uc021wvy.1	-	25	4641	c.4442G>A	c.(4441-4443)cGa>cAa	p.R1481Q		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1481					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCTGATTCCTCGTGCAGCCCG	0.488000														39			17		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325235	6325235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:6325235C>T	uc003gja.3	-	8	1162	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	PPP2R2C_uc003gjb.3_Missense_Mutation_p.E363K|PPP2R2C_uc003gjc.3_Missense_Mutation_p.E380K|PPP2R2C_uc011bwd.2_Missense_Mutation_p.E373K|PPP2R2C_uc011bwe.2_Missense_Mutation_p.E373K	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	380					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TTGCTGCTTTCCCTCGAGGCC	0.622000														28			19		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588001	113588001	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113588001G>A	uc002tii.1	-	6	834	c.747C>T	c.(745-747)ttC>ttT	p.F249F	IL1B_uc002tih.1_Silent_p.F218F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	249					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TCCCTCCCAGGAAGACGGGCA	0.478000														116			55		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3585257	3585257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:3585257C>T	uc002fwi.3	-	9	1396	c.997G>A	c.(997-999)Gac>Aac	p.D333N	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.D273N|P2RX5_uc002fwk.3_Missense_Mutation_p.D332N|P2RX5_uc002fwj.3_Missense_Mutation_p.D308N|P2RX5_uc002fwl.3_Missense_Mutation_p.D309N	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	333					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AGTACCAGGTCGCAGAAGAAA	0.522000														9			17		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112173567	112173567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:112173567C>T	uc003kpz.4	+	16	2469	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V	APC_uc011cvt.2_Missense_Mutation_p.A741V|APC_uc003kpy.4_Missense_Mutation_p.A759V|APC_uc010jbz.3_Missense_Mutation_p.A476V|APC_uc010jca.3_Missense_Mutation_p.A59V	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	759	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)|p.A759fs*2(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAACAAAAAGCCCTAGAAGCA	0.408000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				28			6		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804730	54804730	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:54804730A>T	uc003pck.3	+	4	1077	c.961A>T	c.(961-963)Aac>Tac	p.N321Y		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	321										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAGCCAGAGAAACCTTTTTGG	0.383000														58			28		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798497	39798497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39798497G>A	uc002okw.2	-	1	2092	c.2092C>T	c.(2092-2094)Ccg>Tcg	p.P698S		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	698						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGCGGCCTCGGCCGGGCCGCG	0.721000														10			5		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234854600	234854600	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234854600G>T	uc002vvh.3	+	6	840	c.800G>T	c.(799-801)tGt>tTt	p.C267F	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	267						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GACAATGGCTGTCATGGACAT	0.468000														99			48		1.51926e-22	1.54812e-22	1	1	0
MERTK	10461	broad.mit.edu	37	2	112786132	112786132	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:112786132C>T	uc002thk.1	+	18	2813	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	MERTK_uc002thl.1_Silent_p.I721I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	897					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACTTGAACATCGACCCTGACT	0.542000														142			58		0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33065796	33065796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:33065796G>A	uc011axk.1	-	11	1351	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	GLB1_uc003cfh.1_Missense_Mutation_p.P334S|GLB1_uc003cfi.1_Missense_Mutation_p.P364S|GLB1_uc003cfj.1_Missense_Mutation_p.P233S	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	364					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GGAGGGATAGGACCTTCTGGT	0.318000														13			8		0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112227635	112227636	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112227635_112227636CC>TT	uc001tst.3	+	4	545_546	c.449_450CC>TT	c.(448-450)gcc>gTT	p.A150V	ALDH2_uc010syi.2_Missense_Mutation_p.A103V	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	150					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	p.A150T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGGTATTATGCCGGCTGGGCTG	0.505000			T	HMGA2	leiomyoma									31			15		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53420459	53420459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:53420459G>A	uc001cur.2	+	4	547	c.379G>A	c.(379-381)Gga>Aga	p.G127R	SCP2_uc010ono.2_Missense_Mutation_p.G46R|SCP2_uc010onp.2_Missense_Mutation_p.G103R|SCP2_uc009vzi.2_Missense_Mutation_p.G83R|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.G83R	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	127					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GATGAGTAAGGGAAGCCTTGG	0.343000														79			37		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54963334	54963334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54963334G>A	uc002qfv.1	+	2	247	c.103G>A	c.(103-105)Gag>Aag	p.E35K	LENG8_uc002qfw.2_Missense_Mutation_p.E35K			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	35							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCCGATGCACGAGAACCCGGA	0.622000														70			58		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73625348	73625348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:73625348C>T	uc010dgl.3	-	15	2364	c.2155G>A	c.(2155-2157)Ggc>Agc	p.G719S	RECQL5_uc010dgk.3_Missense_Mutation_p.G692S|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	719					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAGCGCTGCCTCCAGGGACC	0.682000								Other identified genes with known or suspected DNA repair function						26			10		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265953	265953	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:265953G>A	uc021xka.1	-	3	693	c.693C>T	c.(691-693)atC>atT	p.I231I	ZNF732_uc011buu.1_Silent_p.I199I	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						ATGTGGTAAAGATGTTGCCAC	0.343000														30			4		0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22424682	22424682	+	Nonsense_Mutation	SNP	T	G	G	rs148389325		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:22424682T>G	uc003xbv.3	+	15	1639	c.1299T>G	c.(1297-1299)taT>taG	p.Y433*	SORBS3_uc003xbw.4_Nonsense_Mutation_p.Y91*	NM_005775	NP_005766	O60504	VINEX_HUMAN	Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA.	433	Binds to vinculin.|SH3 1.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTGCTAATTATGTGGAGGTGA	0.562000														78			46		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388739	80388739	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:80388739A>T	uc003kha.2	+	9	1560	c.1510A>T	c.(1510-1512)Ata>Tta	p.I504L	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	504	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACACTTTTTAATATGTACAAG	0.383000														71			16		0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43556007	43556007	+	Silent	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:43556007T>A	uc003job.3	-	1	607	c.360A>T	c.(358-360)gtA>gtT	p.V120V	PAIP1_uc003joa.3_Silent_p.V41V|PAIP1_uc003joc.3_Silent_p.V8V	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	120	PABPC1-interacting motif-2 (PAM2).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATACAGGAGCTACAACCACCT	0.473000														129			125		0	0	1	0	0
CHMP6	79643	broad.mit.edu	37	17	78970822	78970822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78970822G>A	uc002jyw.4	+	4	442	c.364G>A	c.(364-366)Gag>Aag	p.E122K		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA.	122					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTCCATTGAAGAGGTGGAGAG	0.642000														79			31		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601622	138601622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138601622G>A	uc011kql.2	-	1	2799	c.2750C>T	c.(2749-2751)cCc>cTc	p.P917L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P917L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	917						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATGGCAGGGGAGGAGCAGC	0.602000			O	BRAF	pilocytic astrocytoma									33			17		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37367916	37367916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37367916C>T	uc002oex.3	+	2	565	c.184C>T	c.(184-186)Ctt>Ttt	p.L62F	ZNF345_uc021utn.1_Missense_Mutation_p.L62F|ZNF345_uc002oey.4_Missense_Mutation_p.L62F|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.L62F|ZNF345_uc021utp.1_Missense_Mutation_p.L62F|ZNF345_uc021utq.1_Missense_Mutation_p.L62F	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	62					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGAAACTCCTTGAATGTAA	0.393000														49			40		0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145035851	145035851	+	Missense_Mutation	SNP	C	T	T	rs149908820	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145035851C>T	uc003ijo.4	-	5	543	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.E110K|GYPA_uc003ijp.4_Missense_Mutation_p.E111K|GYPA_uc010ioq.3_Missense_Mutation_p.E130K|GYPA_uc010ior.3_Missense_Mutation_p.E78K|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	143					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					CCTGGATTTTCTATTTCAACA	0.363000														27			14		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968449	72968450	+	RNA	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72968449_72968450GG>AA	uc002ava.3	-	2		c.790_791CC>TT								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		TGGCTGCAATGGTGAAGCCCTG	0.574000														15			12		0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183097779	183097779	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:183097779C>T	uc001gpy.4	+	17	3431	c.3174C>T	c.(3172-3174)aaC>aaT	p.N1058N		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1058	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATAGCAAACCTTGGAACTG	0.458000														43			15		0	0	1	0	0
FGF9	2254	broad.mit.edu	37	13	22246207	22246207	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:22246207G>A	uc001uog.2	+	0	993	c.156G>A	c.(154-156)acG>acA	p.T52T		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	52					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		CCGCAGTCACGGACTTGGATC	0.557000														28			56		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000408	219000408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219000408C>T	uc002vgz.2	+	3	1094	c.884C>T	c.(883-885)gCt>gTt	p.A295V	CXCR2_uc002vha.2_Missense_Mutation_p.A295V|CXCR2_uc002vhb.2_Missense_Mutation_p.A295V|CXCR2_uc021vwp.1_Missense_Mutation_p.A295V	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ATCGACCGGGCTCTGGATGCC	0.587000														43			31		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111951182	111951182	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111951182A>G	uc001tsj.3	-	10	2179	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R	ATXN2_uc001tsh.3_Missense_Mutation_p.W408R|ATXN2_uc001tsi.3_Missense_Mutation_p.W384R|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Missense_Mutation_p.W408R	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	673	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATGACCACGTTCCCCCC	0.502000														78			30		0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	75003612	75003612	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:75003612A>G	uc003keh.4	-	2	370	c.173T>C	c.(172-174)tTg>tCg	p.L58S	POC5_uc010izu.3_5'UTR|POC5_uc003keg.4_Missense_Mutation_p.L33S	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	58					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTGGCACCAATTCTCCCTT	0.333000														9			4		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46832788	46832788	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46832788G>A	uc003oyo.3	-	13	2270	c.1981C>T	c.(1981-1983)Ctg>Ttg	p.L661L	GPR116_uc011dwj.1_Silent_p.L216L|GPR116_uc011dwk.1_Silent_p.L90L|GPR116_uc003oyp.3_Silent_p.L519L|GPR116_uc003oyq.3_Silent_p.L661L|GPR116_uc010jzi.1_Silent_p.L333L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	661					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCAGGAACCAGATTCAGCTTC	0.383000														64			39		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797524	93797524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:93797524G>A	uc001pep.2	+	3	813	c.656G>A	c.(655-657)cGg>cAg	p.R219Q		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	219	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TCAGGGACACGGAATGATGTG	0.388000														27			8		0	0	1	0	0
MBOAT7	79143	broad.mit.edu	37	19	54678032	54678033	+	Missense_Mutation	DNP	GG	AA	AA	rs148671781	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54678032_54678033GG>AA	uc002qdq.3	-	8	1390_1391	c.1124_1125CC>TT	c.(1123-1125)gcc>gTT	p.A375V	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.A59V|MBOAT7_uc010yem.2_Missense_Mutation_p.A357V|MBOAT7_uc002qdr.3_Missense_Mutation_p.A375V|MBOAT7_uc002qds.3_Missense_Mutation_p.A302V|MBOAT7_uc010yen.2_Missense_Mutation_p.A302V	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	375					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCGGCCCTCGGCAGCCAGGCA	0.688000														61			42		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086509	44086509	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:44086509G>A	uc001cjr.3	+	32	5705	c.5365_splice	c.e32-1	p.D1789_splice	PTPRF_uc001cjs.3_Splice_Site_p.D1780_splice|PTPRF_uc001cju.3_Splice_Site_p.D1178_splice|PTPRF_uc009vwt.3_Splice_Site_p.D1349_splice|PTPRF_uc001cjv.3_Splice_Site_p.D1260_splice|PTPRF_uc001cjw.3_Splice_Site_p.D1015_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1789	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTTTCCCAGGATGGGCAGTC	0.557000														51			21		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6669313	6669313	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6669313G>A	uc021qtw.1	-	14	1908	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F	NOP2_uc009zeq.2_Silent_p.F292F|NOP2_uc021qtx.1_Silent_p.F576F	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	580					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ACTTGGCAATGAAGAACCCAT	0.478000														46			23		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858152	42858152	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42858152C>T	uc002otl.4	+	20	4421	c.3786C>T	c.(3784-3786)tcC>tcT	p.S1262S	MEGF8_uc002otm.4_Silent_p.S870S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1329						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCACCTTCTCCCCCGACAGCA	0.652000														14			8		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55202046	55202046	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:55202046T>C	uc003jql.3	+	8	1374	c.1182T>C	c.(1180-1182)gaT>gaC	p.D394D	IL31RA_uc003jqk.3_Silent_p.D394D|IL31RA_uc011cqj.2_Silent_p.D252D|IL31RA_uc003jqm.3_Silent_p.D375D|IL31RA_uc003jqn.3_Silent_p.D394D|IL31RA_uc010iwa.1_Silent_p.D362D|IL31RA_uc021xyq.1_Silent_p.D375D|IL31RA_uc003jqo.3_Silent_p.D252D	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	362	Fibronectin type-III 4.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.P393P(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGTTTCCGGATGTGGACTCAG	0.557000														45			41		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:69703688G>A	uc010kak.3	+	9	2039	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q	BAI3_uc003pev.4_Missense_Mutation_p.R588Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	588					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R588P(2)|p.R588Q(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418000														240			115		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207700202	207700202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207700202G>A	uc001hfy.3	+	5	1131	c.991G>A	c.(991-993)Gac>Aac	p.D331N	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.D331N|CR1_uc021pij.1_Missense_Mutation_p.D331N|CR1_uc009xcj.1_Intron|CR1_uc009xck.1_Missense_Mutation_p.D331N	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	331	Sushi 5.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCCGGCTACGACCTCAGAGG	0.572000														21			97		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97356754	97356754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97356754G>A	uc010how.1	+	13	2655	c.2612G>A	c.(2611-2613)gGa>gAa	p.G871E	EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.4_Missense_Mutation_p.G263E|EPHA6_uc003drr.4_Missense_Mutation_p.G263E|EPHA6_uc003drt.3_Missense_Mutation_p.G263E|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	776	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G777E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGTTGGTCGGAATGCTCCGA	0.423000														135			79		0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224630	248224630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248224630C>T	uc001idx.1	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTTCATGTTCCTATGGCCGG	0.502000														20			55		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173698	51173698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:51173698G>A	uc021tif.1	-	1	2466	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F	SALL1_uc021tid.1_Missense_Mutation_p.S715F|SALL1_uc021tie.1_Missense_Mutation_p.S812F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	812					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTCATCAAAGGAACCTGTGTC	0.507000														91			61		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120385852	120385852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:120385852G>A	uc003vjj.1	+	4	2451	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	496					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTTTGTGGACGAACAAGTCTT	0.388000														65			27		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36231067	36231067	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:36231067G>A	uc003gsq.2	-	1	380	c.42C>T	c.(40-42)ttC>ttT	p.F14F	ARAP2_uc003gsr.1_Silent_p.F14F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	14	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGCTCATTAGGAAATCTTTTA	0.398000														72			44		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377418	60377418	+	Silent	SNP	G	A	A	rs72547600		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:60377418G>A	uc001czq.3	-	3	551	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	182					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TGTTGATCTTGAAATGAGGGT	0.448000														77			29		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634247	32634247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32634247C>T	uc003zrg.1	-	0	1421	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	444					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGGTTTTGTCCCTTTGTGTTT	0.478000														188			52		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778389	84778389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:84778389C>T	uc010voe.2	+	4	565	c.314C>T	c.(313-315)cCt>cTt	p.P105L	USP10_uc002fii.3_Missense_Mutation_p.P101L|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	101					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAAATAACCCCTGATGGTATC	0.498000														54			30		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36784449	36784449	+	Missense_Mutation	SNP	G	A	A	rs61733919		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36784449G>A	uc002xhr.3	-	2	333	c.233C>T	c.(232-234)cCa>cTa	p.P78L	TGM2_uc010zvx.2_Intron|TGM2_uc010zvy.2_Missense_Mutation_p.P18L|TGM2_uc002xhs.1_Intron|TGM2_uc002xht.3_Missense_Mutation_p.P78L|TGM2_uc002xhu.3_Missense_Mutation_p.P78L	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	78					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ATCTCTTAGTGGAAAACGGGC	0.672000														36			17		0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233105701	233105701	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:233105701A>G	uc001hvj.1	+	3	428	c.341A>G	c.(340-342)gAg>gGg	p.E114G	NTPCR_uc009xft.1_Intron	NM_032324	NP_115700	Q9BSD7	NTPCR_HUMAN	Homo sapiens nucleoside-triphosphatase, cancer-related (NTPCR), mRNA.	114							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GTCATCGATGAGATTGGGAAG	0.502000														69			41		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894476	123894476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123894476C>T	uc010sad.2	+	0	757	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTTTTTGTTCCCTGTGTTTT	0.537000														64			23		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21205628	21205628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:21205628G>A	uc002npj.3	+	1	218	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	ZNF430_uc002npk.3_Missense_Mutation_p.E13K	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCTCTCAAGGAAGCAAGTGG	0.453000														43			22		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335549	42335549	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42335549C>T	uc002igf.4	-	11	1237	c.1088_splice	c.e11-1	p.D363_splice	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	363					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATTTAAGTCTGTGGTGGAG	0.597000														73			36		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205386	81205386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:81205386C>T	uc001szj.1	-	4	753	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	187	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TGGGGTGTATCGCACCACCAG	0.483000														47			25		0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101585547	101585547	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:101585547G>A	uc004ayz.3	+	1	381	c.381G>A	c.(379-381)gaG>gaA	p.E127E		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	127						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGTGCAAAGAGAAGAAATATG	0.463000														24			35		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467864	10467864	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:10467864C>T	uc003wtc.3	-	3	3973	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1248					intracellular signal transduction			p.P1247L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTTCCAGATCCCCTGGGCTCT	0.552000														60			30		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671202	186671202	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:186671202G>A	uc002upl.3	+	16	17436	c.17436G>A	c.(17434-17436)agG>agA	p.R5812R	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGATTAGCAGGGATTCGGCAC	0.368000														80			17		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603675	138603675	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138603675G>A	uc011kql.2	-	1	746	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	KIAA1549_uc011kqj.2_Missense_Mutation_p.R233W	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	233						integral to membrane		p.R233W(1)|p.R183W(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAAGCTGACCGAAAGGTGTGG	0.493000			O	BRAF	pilocytic astrocytoma									191			41		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049645	47049645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47049645C>T	uc003cqp.3	+	49	7867	c.7688C>T	c.(7687-7689)aCt>aTt	p.T2563I	NBEAL2_uc010hjm.2_Missense_Mutation_p.T1940I|NBEAL2_uc010hjn.2_Missense_Mutation_p.T929I	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2563							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCCATCAGCACTGAACTTGAC	0.602000														47			23		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025222	34025222	+	Missense_Mutation	SNP	G	A	A	rs34534075	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34025222G>A	uc010gfc.1	-	0	728	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	GDF5_uc002xck.1_Missense_Mutation_p.R163C	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	163			R -> G (in dbSNP:rs34534075).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGGGTGGGCGAAACGGCTCC	0.637000														89			56		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111146998	111146998	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111146998T>C	uc021oro.1	-	0	407	c.407A>G	c.(406-408)gAa>gGa	p.E136G	KCNA2_uc009wfv.2_Missense_Mutation_p.E136G|KCNA2_uc009wfw.3_Missense_Mutation_p.E136G	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	136						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		AGGACGCTCTTCCTCCTTGAT	0.453000														35			20		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897656	175897656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:175897656C>T	uc003iuc.3	+	4	1650	c.980C>T	c.(979-981)tCa>tTa	p.S327L	ADAM29_uc003iud.3_Missense_Mutation_p.S327L|ADAM29_uc010irr.3_Missense_Mutation_p.S327L|ADAM29_uc011cki.2_Missense_Mutation_p.S327L|ADAM29_uc021xuo.1_Missense_Mutation_p.S327L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	327	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGCACTTTTTCAATTGCAGTG	0.408000														139			49		0	0	1	0	0
SNAI1	6615	broad.mit.edu	37	20	48600371	48600371	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:48600371C>A	uc002xuz.3	+	1	177	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_005985	NP_005976	O95863	SNAI1_HUMAN	Homo sapiens snail homolog 1 (Drosophila) (SNAI1), mRNA.	31					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGTTTACCTTCCAGCAGCCCT	0.582000														69			84		6.78661e-64	6.96608e-64	1	1	0
ADORA3	140	broad.mit.edu	37	1	112031365	112031365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:112031365C>T	uc001ebf.3	-	2	1506	c.739G>A	c.(739-741)Gat>Aat	p.D247N	ADORA3_uc001ebg.4_Missense_Mutation_p.D166N	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TCTGTAAAATCCATGTCATCC	0.532000														28			15		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473519	19473519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:19473519G>A	uc003jgd.3	-	12	2723	c.2189C>T	c.(2188-2190)cCc>cTc	p.P730L	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.P730L|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	730					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTCATAAGGGGGAACGCTAGG	0.488000														26			28		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104391273	104391273	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104391273T>C	uc001tkh.1	-	6	1000	c.443A>G	c.(442-444)cAa>cGa	p.Q148R	GLT8D2_uc001tki.1_Missense_Mutation_p.Q148R	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	148						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTTCTCGTGTTGGTGGATAAG	0.408000														126			70		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175738	63175738	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:63175738T>C	uc002sby.3	+	13	2344	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	EHBP1_uc010fcp.3_Missense_Mutation_p.V586A|EHBP1_uc002sbz.3_Missense_Mutation_p.V586A|EHBP1_uc002scb.3_Missense_Mutation_p.V586A	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	621						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GATAGCGGGGTTGGAGAGTCA	0.483000														33			13		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58141738	58141738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:58141738C>T	uc003djj.2	+	40	6989	c.6824C>T	c.(6823-6825)cCc>cTc	p.P2275L	FLNB_uc010hne.2_Missense_Mutation_p.P2306L|FLNB_uc003djk.2_Missense_Mutation_p.P2264L|FLNB_uc010hnf.2_Missense_Mutation_p.P2251L|FLNB_uc003djl.2_Missense_Mutation_p.P2095L|FLNB_uc003djm.2_Missense_Mutation_p.P2082L	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2275	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGGAAAGCCCCTACCTGGTG	0.557000														75			36		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897979	94897979	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:94897979G>C	uc003unp.3	+	11	2999	c.2717G>C	c.(2716-2718)aGt>aCt	p.S906T	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S928T|PPP1R9A_uc011kif.2_Missense_Mutation_p.S906T|PPP1R9A_uc003unq.3_Missense_Mutation_p.S906T|PPP1R9A_uc011kig.2_Missense_Mutation_p.S906T|PPP1R9A_uc003unr.3_5'UTR	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	906	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGTATGATAGTGTTAGTTCC	0.488000										HNSCC(28;0.073)				59			22		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14824845	14824845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14824845C>T	uc003zlm.3	-	11	2843	c.2027G>A	c.(2026-2028)aGg>aAg	p.R676K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	676					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GACCAGCTCCCTGTCATATGA	0.418000														6			7		0	0	1	0	0
VASH1	22846	broad.mit.edu	37	14	77236309	77236309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:77236309C>T	uc001xst.2	+	1	1243	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	VASH1_uc001xss.3_Missense_Mutation_p.P105S	NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	Homo sapiens vasohibin 1 (VASH1), mRNA.	105					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TCCCCAGATCCCCATACCGAG	0.602000														52			55		0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232660851	232660851	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:232660851G>A	uc002vsh.1	+	4	466	c.363G>A	c.(361-363)gaG>gaA	p.E121E	COPS7B_uc010fxy.1_Silent_p.E87E|COPS7B_uc002vsg.1_Silent_p.E121E|COPS7B_uc002vsi.1_Silent_p.E14E|COPS7B_uc002vsj.1_Non-coding_Transcript|COPS7B_uc002vsk.1_Silent_p.E14E			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	121	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AAGACCTGGAGATGCGGAATC	0.483000														48			23		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434089	10434089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:10434089G>A	uc002moa.3	-	3	1041	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	304	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGCATACTGCGGCCGGGGGGC	0.731000														2			5		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149678065	149678065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:149678065G>A	uc003lrv.2	-	1	1011	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	141						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATATGGGTGGAATAACCTGC	0.622000														32			21		0	0	1	0	0
BTC	685	broad.mit.edu	37	4	75673322	75673322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:75673322C>T	uc003hig.2	-	4	813	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	156					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TCCATTTCTTCTTCTTTCTTC	0.348000														40			7		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48923137	48923137	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:48923137G>A	uc001vcb.3	+	5	751	c.585G>A	c.(583-585)tgG>tgA	p.W195*	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	195					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.W195*(2)|p.W195fs*1(1)|p.W195fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGTTTCTTGGATCACATTTT	0.264000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				29			40		0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112491380	112491380	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:112491380A>G	uc001ttm.3	-	14	1768	c.1710T>C	c.(1708-1710)ttT>ttC	p.F570F	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Silent_p.F542F|NAA25_uc009zwa.2_Silent_p.F570F	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	570						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGTTGGAGTGAAAAAACCTGA	0.418000														19			14		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12309337	12309337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12309337C>T	uc001atv.3	+	5	646	c.505C>T	c.(505-507)Cct>Tct	p.P169S	VPS13D_uc001atw.3_Missense_Mutation_p.P169S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	169					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCCTCCCATCCTTTTGCTTT	0.408000														32			19		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78323704	78323704	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78323704C>T	uc002jyh.2	+	30	10376	c.10233C>T	c.(10231-10233)gtC>gtT	p.V3411V	RNF213_uc021uen.1_Silent_p.V3362V	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCAAAGAAGTCCGGTGAGGTT	0.592000														44			39		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11051708	11051708	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:11051708C>A	uc021tcy.1	+	1	380	c.150C>A	c.(148-150)acC>acA	p.T50T	CLEC16A_uc002dan.4_Silent_p.T50T|CLEC16A_uc002dao.3_Silent_p.T50T	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	50										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TAGTGGAGACCATCCGTTCCA	0.413000														72			16		1.99824e-07	2.01119e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57326576	57326576	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:57326576G>A	uc002qnu.2	-	6	3585	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.T1049T|PEG3_uc002qnv.2_Silent_p.T1078T|PEG3_uc002qnw.2_Silent_p.T954T|PEG3_uc002qnx.2_Silent_p.T952T|PEG3_uc010etr.2_Silent_p.T1078T	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1078					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTGACCATGGGTCTCCTCGC	0.488000														68			19		0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224581617	224581617	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:224581617T>C	uc001hop.4	-	12	2067	c.1873A>G	c.(1873-1875)Att>Gtt	p.I625V	WDR26_uc001hoq.4_Missense_Mutation_p.I609V|WDR26_uc021pjp.1_Non-coding_Transcript	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	625						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATGGATGGAATCTGTGGGTTC	0.473000														47			47		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891536	132891536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:132891536C>T	uc011eck.2	+	0	76	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	26						plasma membrane	G-protein coupled receptor activity	p.P26P(1)|p.I25M(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TGTGAAAATCCCCTTCTCGCC	0.507000														64			51		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616156	8616156	+	Silent	SNP	C	T	T	rs145227034		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8616156C>T	uc003glm.3	+	8	1608	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.F467F|CPZ_uc003gln.3_Silent_p.F341F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	478					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTGAAGTTCCCCCCCGAGG	0.572000														67			14		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103234330	103234330	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103234330C>T	uc022ajr.1	-	27	3872	c.3712_splice	c.e27-1	p.N1238_splice	RELN_uc022ajq.1_Splice_Site_p.N1238_splice|RELN_uc010liz.3_Splice_Site_p.N1238_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1238					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)		CATAAAAGTTCTAATAGAAAC	0.343000														31			9		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79308609	79308609	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79308609C>T	uc003hlb.2	+	28	4169	c.3729C>T	c.(3727-3729)atC>atT	p.I1243I	FRAS1_uc003hkw.3_Silent_p.I1243I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1242					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGCTTGACATCCGAGATGATG	0.502000														42			28		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491034	100491034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100491034C>T	uc003uxd.3	-	0	976	c.820G>A	c.(820-822)Gag>Aag	p.E274K	ACHE_uc003uxe.3_Missense_Mutation_p.E274K|ACHE_uc003uxf.3_Missense_Mutation_p.E274K|ACHE_uc003uxg.3_Missense_Mutation_p.E274K|ACHE_uc003uxh.3_Missense_Mutation_p.E274K|ACHE_uc003uxi.3_Missense_Mutation_p.E274K|ACHE_uc003uxj.1_Missense_Mutation_p.E393K	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	274					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGACGGGCCTCTCCCATGCCC	0.706000														30			17		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51723610	51723610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:51723610G>A	uc001ryi.1	-	6	658	c.617C>T	c.(616-618)tCt>tTt	p.S206F		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	206	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						GGGGCCCCCAGAGTCACCCTG	0.547000														93			34		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20848394	20848394	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20848394C>T	uc001vxe.3	-	34	5043	c.5003_splice	c.e34+1	p.S1668_splice	TEP1_uc010ahk.3_Splice_Site_p.S1011_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.S1560_splice|TEP1_uc010tlh.1_Splice_Site_p.S6_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1668					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGGTCTTACCTTTGCTGATT	0.517000														69			78		0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21991911	21991911	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:21991911G>C	uc002djx.3	+	12	1304	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	390					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding	p.E390*(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GGAGTCTTCTGAGTGTTTCCT	0.443000														88			16		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131640505	131640505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:131640505G>A	uc021qav.1	-	12	1279	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	EBF3_uc001lki.2_Missense_Mutation_p.P407L	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	416					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTGATTGCGGGGAACGCTGTA	0.642000														165			57		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39412175	39412175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39412175G>A	uc010xup.1	-	4	692	c.532C>T	c.(532-534)Cca>Tca	p.P178S	SARS2_uc002ojz.2_5'UTR|SARS2_uc002oka.2_Missense_Mutation_p.P176S|SARS2_uc010xuq.1_Missense_Mutation_p.P176S|SARS2_uc010xur.1_Non-coding_Transcript	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	176					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCACGTCTGGGTGGGTCTGG	0.657000														32			13		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100119	168100119	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168100119A>T	uc002udx.3	+	8	2306	c.2217A>T	c.(2215-2217)caA>caT	p.Q739H	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.Q564H|XIRP2_uc010fpq.3_Missense_Mutation_p.Q517H|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	564					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						TCGAAACTCAACCATTATATG	0.378000														44			15		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13090813	13090813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13090813G>A	uc002wod.1	+	6	1170	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	294					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.R294R(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGCCAGCCTCGAACCCGCAGA	0.443000														73			23		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529468	5529468	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5529468A>G	uc021qcw.1	-	0	1321	c.1321T>C	c.(1321-1323)Ttg>Ctg	p.L441L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L441L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	441										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAGGCAAGTTTGTGCTA	0.537000														59			31		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120030	142120030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142120030G>A	uc022anf.1	-	1	181	c.152C>T	c.(151-153)tCg>tTg	p.S51L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGCATGACTCGAAATTGGATC	0.493000														28			41		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946492	144946492	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144946492G>A	uc003zaa.1	-	0	943	c.930C>T	c.(928-930)ctC>ctT	p.L310L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	310						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCCATTGGGAGCAGGTGCT	0.672000														90			41		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345369	23345369	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23345369C>T	uc001whd.3	+	4	1765	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	LRP10_uc001whe.3_Silent_p.F280F	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	404	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCAATTTCCGATGCCGGG	0.592000														55			73		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000														31			19		0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2757314	2757314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2757314G>A	uc002crd.3	+	5	746	c.691G>A	c.(691-693)Ggc>Agc	p.G231S		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	231					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCAAGAACGAGGCTCAAGGAT	0.483000														61			6		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17543315	17543315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:17543315G>A	uc003ncb.3	+	10	1393	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.V358M|CAP2_uc011djb.2_Missense_Mutation_p.V320M|CAP2_uc011djc.2_Missense_Mutation_p.V272M|CAP2_uc011djd.2_Missense_Mutation_p.V124M	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	384	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACTCGGCCTGGTGTTTGACAA	0.413000														129			78		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712524	121712524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121712524G>A	uc003ees.3	-	6	1275	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	ILDR1_uc003eeq.3_Missense_Mutation_p.P326S|ILDR1_uc003eer.3_Missense_Mutation_p.P314S|ILDR1_uc010hrg.3_Missense_Mutation_p.P269S	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	358						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GGCCTGGAGGGAATTGGGGTG	0.602000														46			27		0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147127334	147127334	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:147127334C>T	uc001epr.2	-	4	1053	c.589G>A	c.(589-591)Gat>Aat	p.D197N	ACP6_uc009wjj.1_Missense_Mutation_p.D154N	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	197					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					ACTTCTGAATCTGCTTCATCA	0.542000														13			3		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8618077	8618077	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8618077C>T	uc002mkg.3	-	5	588	c.450G>A	c.(448-450)ctG>ctA	p.L150L	MYO1F_uc010xkf.2_Silent_p.L150L	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	150	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGGCCTCGAGCAGCGGGTTGG	0.592000														143			16		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40850388	40850388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:40850388C>T	uc002law.3	-	3	1565	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Missense_Mutation_p.G381E	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	399						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCCACCAGTTCCTTCTGCTGC	0.493000														170			92		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216496835	216496835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:216496835C>T	uc001hku.1	-	7	1918	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	USH2A_uc001hkv.3_Missense_Mutation_p.E511K	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	511	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGGTGATTTCGTCCACTGCA	0.378000										HNSCC(13;0.011)				76			38		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342489	60342489	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:60342489G>A	uc010woz.2	-	13		c.1640C>T								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						TGCCCTGGTCGGAATCAGTGC	0.622000														175			39		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012582	55012582	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:55012582C>T	uc002xxp.2	+	2	624	c.399C>T	c.(397-399)ttC>ttT	p.F133F	CASS4_uc002xxq.4_Silent_p.F133F|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Silent_p.F133F|CASS4_uc010gio.2_Silent_p.F133F	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	133					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTATGAATTCCCCGACCCTC	0.572000														137			68		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42448650	42448650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42448650C>T	uc003gwr.2	-	30	3140	c.2908G>A	c.(2908-2910)Gga>Aga	p.G970R	ATP8A1_uc003gwq.2_Missense_Mutation_p.G196R|ATP8A1_uc003gws.2_Missense_Mutation_p.G955R	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	970					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTCCCATTTCCAAATGCAGTA	0.398000														33			18		0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552640	57552640	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57552640T>G	uc002elw.3	-	4	1148	c.935A>C	c.(934-936)aAg>aCg	p.K312T		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	312										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCGCCTCCTTCAGGATGCT	0.637000														6			6		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79229258	79229258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:79229258G>A	uc003hlb.2	+	14	2013	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	FRAS1_uc003hkw.3_Missense_Mutation_p.E525K|FRAS1_uc003hky.1_Missense_Mutation_p.E229K|FRAS1_uc003hkz.3_Missense_Mutation_p.E229K|FRAS1_uc003hla.1_Missense_Mutation_p.E36K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	525					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGCCCAACGGAGAAGCACTG	0.547000														34			18		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5529770	5529770	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:5529770G>A	uc003soo.2	-	4	2168	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	FBXL18_uc003son.4_Intron	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	692									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CCAGTGGCTCGAGACGTCCTG	0.617000														11			8		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634273	70634273	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:70634273C>T	uc001xly.3	-	1	1621	c.867G>A	c.(865-867)ggG>ggA	p.G289G	SLC8A3_uc001xlw.3_Silent_p.G289G|SLC8A3_uc001xlx.3_Silent_p.G289G|SLC8A3_uc001xlz.3_Silent_p.G289G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	289					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G289R(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCATCATTTTCCCATCCATCT	0.473000														34			3		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705349	60705349	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60705349C>T	uc001nqn.2	-	6	1818	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	528					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CACCAAAGTCCTTGGGGCAGT	0.607000														19			7		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743575	102743575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:102743575C>T	uc001krw.2	+	13	2603	c.2219C>T	c.(2218-2220)cCt>cTt	p.P740L	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Splice_Site_p.D156_splice|MRPL43_uc010qpu.1_Splice_Site_p.G198_splice|MRPL43_uc001krz.1_Splice_Site|MRPL43_uc001ksa.1_Splice_Site_p.G198_splice|MRPL43_uc001ksb.1_Splice_Site_p.D156_splice	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	735					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GGCCAGTGTCCTGGAGAGGAA	0.667000														9			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791212	106791212	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106791212G>A	uc021ser.1	-	619		c.17180C>T								Parts of antibodies, mostly variable regions.																		CATAGCTACTGAAGGTGAATC	0.567000														93			5		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52343949	52343949	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:52343949G>A	uc001ctc.4	-	0	661	c.339C>T	c.(337-339)taC>taT	p.Y113Y	NRD1_uc001cte.3_5'Flank|NRD1_uc001ctd.4_Silent_p.Y113Y|NRD1_uc001ctf.2_Silent_p.Y113Y|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_5'Flank	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	113					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCCTCACCGGTATTGCTTGG	0.592000														45			23		0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290895	5290895	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5290895A>T	uc001mal.1	-	1	370	c.104T>A	c.(103-105)gTt>gAt	p.V35D	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.V35D	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	35					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGGGTAAACAACGAGGAG	0.458000														19			16		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189359	50189360	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50189359_50189360CC>TT	uc009zlk.2	-	7	2485_2486	c.2283_2284GG>AA	c.(2281-2286)gtggac>gtAAac	p.D762N	NCKAP5L_uc001rvc.3_5'UTR|NCKAP5L_uc001rvb.2_Missense_Mutation_p.D355N	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	758										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGCTCCAGGTCCACCCGGGCCC	0.663000														14			14		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47581731	47581731	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47581731G>A	uc002leb.2	-	1	333	c.45C>T	c.(43-45)atC>atT	p.I15I	MYO5B_uc021ukb.1_Silent_p.I14I	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	15	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CAGGGTCAGGGATCCAGACCC	0.453000														56			36		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43821191	43821191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43821191C>T	uc010skx.2	-	26	4027	c.4027G>A	c.(4027-4029)Gat>Aat	p.D1343N	ADAMTS20_uc001rno.1_Missense_Mutation_p.D461N	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1343	TSP type-1 9.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GAGGCTGCATCGCAGTAACTA	0.473000														44			29		0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18231962	18231962	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18231962G>A	uc009yhh.3	+	1		c.986G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		GATTGGTGGGGAATTTCAGTC	0.403000														23			10		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50121724	50121724	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50121724G>A	uc001jhd.3	-	0	557	c.477C>T	c.(475-477)atC>atT	p.I159I	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.I159I	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	159						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGCTCACGGGGATGTTGTTCA	0.537000														17			6		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39178409	39178409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:39178409G>A	uc003cjc.2	+	23	3313	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	TTC21A_uc011ayx.1_Missense_Mutation_p.E998K|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Missense_Mutation_p.E167K	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1046							binding	p.E1047K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGCCCAACGAAGCCTTAAA	0.532000														118			47		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9490759	9490759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9490759G>A	uc021uon.1	+	4	441	c.280G>A	c.(280-282)Gat>Aat	p.D94N	ZNF177_uc002mli.3_Missense_Mutation_p.D94N|ZNF177_uc002mlj.3_Missense_Mutation_p.D94N|ZNF177_uc002mlk.3_Missense_Mutation_p.D94N	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	94			D -> G (in dbSNP:rs2230750).		negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TAAACCAAAAGATACAATTGC	0.388000														19			36		0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681198	3681198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:3681198C>T	uc001lye.1	+	2	550	c.449C>T	c.(448-450)tCc>tTc	p.S150F	ART1_uc009yeb.1_Missense_Mutation_p.S150F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	150					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CACCACTTCTCCTTCAAGACA	0.667000														55			17		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509498	28509498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28509498C>T	uc002dqb.2	+	2	3085	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Missense_Mutation_p.R547C	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1009					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCCTCTTTTCGTCGGACTCC	0.682000														3			5		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173702865	173702865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:173702865C>T	uc001gjc.3	+	2	216	c.37C>T	c.(37-39)Cga>Tga	p.R13*	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_5'UTR|KLHL20_uc001gjd.3_Nonsense_Mutation_p.R13*	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	13					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	p.R13R(2)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TACCAACATTCGACCAGGAGA	0.473000														71			64		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275446	71275446	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71275446A>G	uc003hfi.3	+	2	575	c.401A>G	c.(400-402)tAc>tGc	p.Y134C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	134	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CTTGCTATTTACCTTCCTATC	0.433000														50			32		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3743350	3743350	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:3743350A>T	uc010ewt.3	+	7	716	c.555A>T	c.(553-555)aaA>aaT	p.K185N	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	204							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CTGGACAAAAAGACTGGACTG	0.443000										HNSCC(21;0.051)				35			13		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697103	17697103	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:17697103C>T	uc002rcl.1	-	0	2604	c.2580G>A	c.(2578-2580)gaG>gaA	p.E860E	RAD51AP2_uc010exn.1_Silent_p.E851E	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	860								p.E860*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTATCTTTCTCTTCCTTTT	0.279000														4			4		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949993	118949993	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:118949993C>T	uc004bjn.3	+	1	1357	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PAPPA_uc011lxp.1_Silent_p.L119L|PAPPA_uc011lxq.2_Silent_p.L119L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	326	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGAGCCTCCTCTGTGCGGACA	0.567000														23			32		0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66613527	66613527	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:66613527G>A	uc001ojk.1	+	7	995	c.951G>A	c.(949-951)ttG>ttA	p.L317L	RCE1_uc001ojl.1_Silent_p.L213L	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	317					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity	p.L316I(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGTGCTTTTGGAGCGGGCAG	0.632000														82			31		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13541953	13541953	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:13541953C>T	uc001imm.2	-	2	414	c.117G>A	c.(115-117)ctG>ctA	p.L39L	BEND7_uc001imo.4_Silent_p.L39L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	91							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGACTAAATCCAGGTCCTGGG	0.537000														55			24		0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28620125	28620125	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28620125C>G	uc002dqn.3	-	4	917	c.325G>C	c.(325-327)Gtc>Ctc	p.V109L	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.V18L|SULT1A1_uc002dqi.3_Missense_Mutation_p.V18L|SULT1A1_uc002dqk.3_Missense_Mutation_p.V18L|SULT1A1_uc002dql.3_Missense_Mutation_p.V18L|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Missense_Mutation_p.V18L	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	18					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						ATGAGCGGGACCCCCTTCACG	0.632000														90			10		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555318	155555318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:155555318G>A	uc002tyv.1	+	0	226	c.31G>A	c.(31-33)Gat>Aat	p.D11N	KCNJ3_uc010zce.1_Missense_Mutation_p.D11N|KCNJ3_uc021vrh.1_Missense_Mutation_p.D11N	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	11					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATTTGGGGACGATTATCAGGT	0.602000														46			33		0	0	1	0	0
FAM188A	80013	broad.mit.edu	37	10	15858885	15858885	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:15858885G>A	uc001iod.1	-	9	1052	c.831C>T	c.(829-831)ttC>ttT	p.F277F	FAM188A_uc001ioe.1_Silent_p.F104F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	277					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCCAAATAGGGAATTTTGGAG	0.323000														44			23		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36018407T>C	uc002oad.2	-	0	847	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000														8			3		0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110710562	110710562	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:110710562C>T	uc003kpf.3	+	2	490	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_uc010jbv.3_Intron	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	85	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378000														30			3		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18242180	18242180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:18242180G>A	uc001rdq.3	-	1	232	c.38C>T	c.(37-39)tCt>tTt	p.S13F		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	13	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.S13F(3)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AACAGAAACAGATTTCTCATT	0.333000														16			6		0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153175712	153175712	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153175712T>G	uc004fjk.2	-	16	2127	c.2069A>C	c.(2068-2070)cAg>cCg	p.Q690P	ARHGAP4_uc011mzf.2_Missense_Mutation_p.Q667P|ARHGAP4_uc004fjl.2_Missense_Mutation_p.Q730P|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	690	Rho-GAP.				Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGATCGGGCTGCACTATGAG	0.701000														8			22		0	0	1	0	0
KRT9	3857	broad.mit.edu	37	17	39724825	39724826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39724825_39724826CC>TT	uc002hxe.4	-	4	1170_1171	c.1104_1105GG>AA	c.(1102-1107)aaggag>aaAAag	p.E369K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	369	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TGGGTCACCTCCTTGGCACTGG	0.550000														416			179		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2380991	2380991	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:2380991A>G	uc002wfy.1	+	6	951	c.890A>G	c.(889-891)aAc>aGc	p.N297S	TGM6_uc010gal.1_Missense_Mutation_p.N297S	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	297					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTCGTGTCCAACTTCAACTCA	0.617000														67			36		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22249119	22249119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:22249119C>T	uc001mqi.2	+	6	952	c.635C>T	c.(634-636)tCa>tTa	p.S212L	ANO5_uc001mqj.2_Missense_Mutation_p.S211L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	212						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCATCCTCATCAAGAAACAGA	0.438000														69			19		0	0	1	0	0
STAU2	27067	broad.mit.edu	37	8	74507457	74507457	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:74507457T>A	uc003xzm.3	-	10	1446	c.1105A>T	c.(1105-1107)Atg>Ttg	p.M369L	STAU2_uc011lfh.2_Missense_Mutation_p.M265L|STAU2_uc003xzn.3_Missense_Mutation_p.M337L|STAU2_uc011lfg.2_Missense_Mutation_p.M197L|STAU2_uc003xzo.3_Missense_Mutation_p.M369L|STAU2_uc003xzq.3_Missense_Mutation_p.M149L|STAU2_uc003xzp.3_Missense_Mutation_p.M337L|STAU2_uc011lfi.2_Missense_Mutation_p.M331L|STAU2_uc010lzk.3_Missense_Mutation_p.M337L|STAU2_uc010lzl.1_Missense_Mutation_p.M197L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	369	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGTAACAGCATTGCTTCTGCA	0.333000														79			30		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35526232	35526232	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:35526232T>G	uc002xgh.2	-	14	1939	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	580					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TACCTGCGGCTTGGTGAAATT	0.383000														92			33		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502786	20502786	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20502786G>A	uc010tkz.2	-	0	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCAAGATGAGCAGGTTTC	0.403000														27			3		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139862184	139862184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:139862184G>A	uc003lfs.2	+	10	1956	c.1802G>A	c.(1801-1803)gGa>gAa	p.G601E	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.G620E|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.G601E|ANKHD1-EIF4EBP3_uc003lft.1_Missense_Mutation_p.G81E|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.G81E|ANKHD1-EIF4EBP3_uc003lfv.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	601						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGGTGGAAGAACACCT	0.368000														64			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498037	179498037	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179498037C>T	uc021vsy.1	-	181	35484	c.35259G>A	c.(35257-35259)gtG>gtA	p.V11753V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.V5448V|TTN_uc021vta.1_Silent_p.V5381V|TTN_uc021vtb.1_Silent_p.V5256V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12680	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCTTTTCCACTTTTATTA	0.398000														99			36		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163917	49163917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49163917G>A	uc003cwe.3	-	15	2331	c.2032C>T	c.(2032-2034)Cct>Tct	p.P678S	LAMB2_uc003cwf.1_Missense_Mutation_p.P678S	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	678	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGGATTAGGAAATATCAAG	0.577000														68			24		0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303919	151303919	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151303919G>A	uc022cgz.1	-	0	174	c.174C>T	c.(172-174)tcC>tcT	p.S58S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.S58S|MAGEA10_uc004ffm.2_Silent_p.S58S|MAGEA10_uc004ffl.3_Silent_p.S58S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	58	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552000														68			3		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107037521	107037521	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:107037521G>A	uc010ilv.2	-	23	2615	c.2250C>T	c.(2248-2250)atC>atT	p.I750I	TBCK_uc003hyb.2_Silent_p.I493I|TBCK_uc003hye.2_Silent_p.I711I|TBCK_uc003hyc.2_Silent_p.I687I|TBCK_uc003hyd.2_Silent_p.I578I|TBCK_uc003hyf.2_Silent_p.I750I	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	750						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CATTTAATGGGATGGATTCTC	0.353000														26			20		0	0	1	0	0
PDCD4	27250	broad.mit.edu	37	10	112655733	112655733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:112655733C>T	uc001kzh.3	+	10	1523	c.1237C>T	c.(1237-1239)Ccg>Tcg	p.P413S	PDCD4_uc001kzg.3_Missense_Mutation_p.P402S|PDCD4_uc010qre.2_Missense_Mutation_p.P399S|PDCD4_uc021pye.1_5'Flank	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	413	MI 2.				apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAATGAAATTCCGGACATTAA	0.353000														40			27		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20429495	20429495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20429495G>A	uc002dhe.3	+	2	466	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	ACSM5_uc002dhd.1_Missense_Mutation_p.G107R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	107					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.G107G(1)|p.L106L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CAATGTGCTGGGGGGTGCATG	0.612000														51			21		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868827	14868827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14868827G>A	uc003zlm.3	-	2	965	c.149C>T	c.(148-150)gCc>gTc	p.A50V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	50					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTAGGGATGGCAAACTTCAG	0.547000														12			4		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496137	41496137	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:41496137G>A	uc002yyq.1	-	19	4133	c.3681C>T	c.(3679-3681)tcC>tcT	p.S1227S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1227	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATAGGGGTGGGAGCAGAATA	0.552000														158			70		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36162877	36162877	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:36162877C>T	uc004ddk.1	+	10	1646	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	487						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						atctctttctccctttggagc	0.433000														3			12		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30136175	30136175	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30136175G>A	uc010jrx.3	+	2	1055	c.576G>A	c.(574-576)agG>agA	p.R192R		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	192					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCAGGCTGAGGGAGCTGGAGC	0.552000														34			16		0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007557	56007557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:56007557C>T	uc003tra.2	+	6	1997	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	ZNF713_uc003trc.1_Missense_Mutation_p.P384L	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S397N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAGAGAAACCCTATAAATGT	0.408000														32			20		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60230595	60230595	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60230595G>A	uc009yna.3	+	3	606	c.279_splice	c.e3+1	p.M93_splice	MS4A1_uc009ymy.1_Splice_Site_p.M93_splice|MS4A1_uc009ymz.3_Splice_Site_p.M93_splice|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Splice_Site_p.M93_splice|MS4A1_uc001npq.3_Splice_Site_p.M93_splice	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	93					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AGGCATTATGGTGAGTAAAAG	0.473000														67			31		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123073312	123073312	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:123073312A>T	uc001ucv.3	+	39	4111	c.3948A>T	c.(3946-3948)aaA>aaT	p.K1316N	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1316					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGAATTGAAAGAAAAAGCTG	0.274000														4			4		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17740067	17740067	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:17740067G>A	uc021uqk.1	-	30	3774	c.3732C>T	c.(3730-3732)tcC>tcT	p.S1244S		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1245					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCTTCTCCTTGGAGCAGTAGG	0.577000														5			8		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55541881	55541881	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:55541881A>T	uc003xsd.1	+	3	5587	c.5439A>T	c.(5437-5439)gaA>gaT	p.E1813D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1813					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)			AACCCCTTGAACTAAAATGCA	0.448000														21			9		0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19648222	19648222	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19648222C>T	uc002nmt.2	+	6	861	c.789C>T	c.(787-789)ttC>ttT	p.F263F	YJEFN3_uc010ecf.2_Silent_p.F213F|YJEFN3_uc002nmu.2_Non-coding_Transcript|CILP2_uc002nmv.4_5'Flank|CILP2_uc002nmw.4_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	263	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CTGGCCGCTTCTCCGGGCGCC	0.716000														5			5		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425020	113425020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113425020G>A	uc001tuj.3	+	1	495	c.355G>A	c.(355-357)Gag>Aag	p.E119K	OAS2_uc001tuh.3_Missense_Mutation_p.E119K|OAS2_uc001tui.1_Missense_Mutation_p.E119K	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	119	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACAATTTCGAGATCCAGAA	0.458000														76			31		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673799	120673799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:120673799G>A	uc003eec.4	+	2	342	c.202G>A	c.(202-204)Ggt>Agt	p.G68S	STXBP5L_uc011bji.2_Missense_Mutation_p.G68S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	68					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)		AGTTCGGCATGGTTTTCCTCA	0.378000														40			34		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223270	2223270	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2223270G>A	uc002cow.3	+	9	981	c.882G>A	c.(880-882)acG>acA	p.T294T		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	294					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGCAGCAGACGGATGACCGCT	0.612000														11			10		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77754364	77754364	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:77754364C>T	uc021rks.1	-	33	5298	c.5031G>A	c.(5029-5031)ctG>ctA	p.L1677L	MYCBP2_uc010aev.3_Silent_p.L1043L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTCTCCTCAGGCTGTTCC	0.493000														53			64		0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35514221	35514221	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:35514221C>T	uc010xsf.1	+	16	1938	c.1938C>T	c.(1936-1938)tcC>tcT	p.S646S	GRAMD1A_uc010xse.1_Silent_p.S645S|GRAMD1A_uc002nxk.2_Silent_p.S634S|GRAMD1A_uc002nxl.2_Silent_p.S407S|GRAMD1A_uc002nxn.1_Silent_p.S256S	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	645						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCTTTGAGTCCTGGCACAGCC	0.647000														287			92		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503315	51503315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51503315G>A	uc002puq.1	-	3	751	c.565C>T	c.(565-567)Cat>Tat	p.H189Y	KLK8_uc002pur.1_Missense_Mutation_p.H144Y|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.H144Y|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	144	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGGGTGCAATGATCTGCCAGG	0.592000														27			17		0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844420	106844420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:106844420G>A	uc022cce.1	+	0	786	c.418G>A	c.(418-420)Gag>Aag	p.E140K				Q5JV73	FRPD3_HUMAN	Homo sapiens mRNA for KIAA1817 protein, partial cds.	1084						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CTCCCAACAAGAGGACAGTCT	0.562000														11			40		0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:51882498C>T	uc001rys.1	+	17	2480	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_uc001rym.3_Missense_Mutation_p.R715C|SLC4A8_uc001ryn.3_Missense_Mutation_p.R715C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R715C|SLC4A8_uc010snj.2_Missense_Mutation_p.R795C|SLC4A8_uc001ryr.3_Missense_Mutation_p.R768C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	768					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378000														109			51		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937258	105937258	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105937258T>G	uc004emk.3	+	0	191	c.26T>G	c.(25-27)tTt>tGt	p.F9C		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 2, mRNA.	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGGTCCAGTTTTTTTTGGCTC	0.343000														8			21		0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41059602	41059602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41059602C>T	uc002icb.1	+	2	482	c.403C>T	c.(403-405)Ctt>Ttt	p.L135F	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	135					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CACATCTACTCTTTCCATCTT	0.512000														51			36		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095058	16095058	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16095058C>T	uc001axd.1	+	5	917	c.474C>T	c.(472-474)ccC>ccT	p.P158P	FBLIM1_uc001axe.1_Silent_p.P158P|FBLIM1_uc001axg.1_Silent_p.P158P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	158	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		AGCCCGGTCCCCTCAGGCCCA	0.652000														72			16		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	881810	881810	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:881810G>A	uc009vjq.3	-	14	1834	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	NOC2L_uc001aby.4_Missense_Mutation_p.S389F|NOC2L_uc001abz.4_Missense_Mutation_p.S592F	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	592						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GACGCCGAAGGAAACCCTCTG	0.632000														63			31		0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204784	219204784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219204784G>A	uc002vhn.3	+	3	529	c.385G>A	c.(385-387)Gac>Aac	p.D129N	PNKD_uc002vhq.3_Missense_Mutation_p.D105N	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	129						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCTCTCGGACAACTACAG	0.647000														85			47		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57965879	57965879	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57965879C>T	uc001sor.1	+	13	1606	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	KIF5A_uc010srr.1_Silent_p.V377V	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	466					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACGAGAAGGTCCAGCGGGAGC	0.572000														30			19		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345690	135345690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:135345690C>T	uc001lnj.1	+	3	583	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F	CYP2E1_uc001lnk.1_Missense_Mutation_p.L47F|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	184					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGCCGACATCCTCTTCCGCAA	0.522000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					114			45		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82763871	82763871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82763871C>T	uc003uhx.2	-	2	3284	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	PCLO_uc003uhv.2_Missense_Mutation_p.E999K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	945					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTTTTGTTTCCTTTTTCACA	0.468000														45			10		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317446	30317446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:30317446G>A	uc009xle.2	-	2	1768	c.1631C>T	c.(1630-1632)cCt>cTt	p.P544L	KIAA1462_uc001iux.3_Missense_Mutation_p.P544L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P406L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	544										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGTGAGTAAGGGGAGGAAAC	0.532000														115			46		0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095817	178095817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:178095817C>T	uc002ulh.4	-	4	2069	c.1514G>A	c.(1513-1515)gGt>gAt	p.G505D	NFE2L2_uc002ulg.4_Missense_Mutation_p.G489D|NFE2L2_uc010zfa.2_Missense_Mutation_p.G482D|NFE2L2_uc002uli.4_Missense_Mutation_p.G489D	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	505					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTTATTCTTACCCCTCCTACG	0.348000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				69			19		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129270669	129270670	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:129270669_129270670GG>AA	uc004evg.3	-	10	1343_1344	c.1112_1113CC>TT	c.(1111-1113)tcc>tTT	p.S371F	AIFM1_uc011mur.2_Missense_Mutation_p.S19F|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.S367F|AIFM1_uc004evi.3_Missense_Mutation_p.S84F|AIFM1_uc004evk.3_Missense_Mutation_p.S19F	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371	FAD-dependent oxidoreductase (By similarity).				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGACTCCAACGGATTGCACAAT	0.480000														16			49		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442126	41442126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:41442126G>A	uc010ehg.1	+	1	304	c.296G>A	c.(295-297)gGa>gAa	p.G99E	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.G99E|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TCTGGCCGGGGAAAAATCGTC	0.607000														27			24		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94128596	94128596	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:94128596C>T	uc011cdt.2	+	4	1035	c.777C>T	c.(775-777)atC>atT	p.I259I	GRID2_uc010ikx.3_Silent_p.I259I|GRID2_uc011cdu.2_Silent_p.I164I|GRID2_uc011cdv.1_Non-coding_Transcript|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	259					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCACTGGATCATTATAAATG	0.328000														65			27		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49751367	49751367	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49751367C>T	uc003cxh.3	+	29	2948	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	954						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGAGGAACCTCCTGGCGCCCT	0.672000														65			35		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43768301	43768301	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:43768301C>T	uc002rsw.4	-	20	3613	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	THADA_uc010far.3_Silent_p.E356E|THADA_uc002rsx.4_Silent_p.E1087E|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.E796E|THADA_uc010fat.1_Silent_p.E234E|THADA_uc002rta.2_Silent_p.E797E	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1087							binding	p.V1086E(2)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCTTACCTGCTCCACCGTCA	0.383000														23			20		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6942649	6942649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:6942649C>T	uc004frb.3	+	12	1590	c.943C>T	c.(943-945)Cct>Tct	p.P315S	TBL1Y_uc004frc.3_Missense_Mutation_p.P315S|TBL1Y_uc004frd.3_Missense_Mutation_p.P315S|TBL1Y_uc011nap.2_Missense_Mutation_p.P157S	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	315					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACAGCAGTTTCCTTTTCATTC	0.373000														34			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681713	100681713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100681713C>T	uc003uxp.1	+	2	7069	c.7016C>T	c.(7015-7017)cCa>cTa	p.P2339L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2339	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAACACTCCATTAACACGT	0.478000														467			157		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90335399	90335399	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:90335399G>A	uc002bop.4	-	17	2812	c.2520C>T	c.(2518-2520)atC>atT	p.I840I		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	840	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACCTGTTCAGGATCCACAACT	0.617000														69			40		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155953	111155953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:111155953C>T	uc004epl.1	-	2	1385	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	TRPC5_uc004epm.1_Missense_Mutation_p.E156K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	156					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E156K(4)|p.Y155*(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGATGATTTCGTAGTTGTTG	0.512000														28			72		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89576354	89576354	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:89576354T>C	uc003hrw.1	+	7	973	c.807T>C	c.(805-807)ggT>ggC	p.G269G	HERC3_uc003hrv.3_Silent_p.G269G|HERC3_uc011cdn.1_Silent_p.G151G	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	269					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTGGCGCTGGTTCCTGTGGGC	0.438000														154			61		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004056	71004056	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:71004056C>T	uc003pfg.4	-	4	669	c.510G>A	c.(508-510)tcG>tcA	p.S170S		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	170	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S170S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGACAAATTCGAAAAGGCTG	0.428000														116			59		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384777	108384777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:108384777C>T	uc001pkk.3	-	5	1568	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	EXPH5_uc010rvz.2_Missense_Mutation_p.G330E|EXPH5_uc010rvy.2_Missense_Mutation_p.G298E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	486					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAAGAATGTCCTTTCTCTTG	0.423000														64			25		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117678055	117678055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:117678055G>A	uc003pxp.1	-	24	4077	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1293					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCAAAATTGGAAACTTCTGT	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									41			18		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82764246C>T	uc003uhx.2	-	2	2909	c.2620G>A	c.(2620-2622)Ggg>Agg	p.G874R	PCLO_uc003uhv.2_Missense_Mutation_p.G874R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	820	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGGTGACCCTTTTGGCATT	0.517000														210			208		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	195679	195679	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:195679C>T	uc003fzu.1	+	4		c.772C>T						Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTAAAACTTCATTTCCAAAA	0.388000														5			3		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386994	124386994	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124386994C>A	uc003vli.3	-	1	2078	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	476						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCTCGGGTACAGGCTTTCTC	0.438000														96			43		1.86633e-21	1.90113e-21	1	1	0
BTBD11	121551	broad.mit.edu	37	12	108013852	108013852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:108013852G>A	uc001tmk.1	+	10	3063	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	BTBD11_uc009zut.1_Missense_Mutation_p.E729K|BTBD11_uc001tmj.3_Missense_Mutation_p.E848K|BTBD11_uc001tml.1_Missense_Mutation_p.E385K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	848						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTGTTAAAGGAGTTTAAGAC	0.577000														54			19		0	0	1	0	0
ABCB8	11194	broad.mit.edu	37	7	150733220	150733220	+	Silent	SNP	C	T	T	rs148169229		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150733220C>T	uc003wil.4	+	8	1218	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	ABCB8_uc003wii.2_Silent_p.I395I|ABCB8_uc010lpw.1_Missense_Mutation_p.R259C|ABCB8_uc010lpx.3_Silent_p.I358I|ABCB8_uc011kvd.2_Silent_p.I270I|ABCB8_uc003wim.4_Silent_p.I153I|ABCB8_uc003wik.4_Silent_p.I358I	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	375	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGCGGCATCGCCTTGTTCC	0.652000														33			10		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171687555	171687555	+	Missense_Mutation	SNP	C	T	T	rs150945113		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:171687555C>T	uc002ugi.3	+	4	822	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	GAD1_uc002ugh.3_Missense_Mutation_p.R134C	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	134					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.R134C(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACATTTGATCGCTCCACCAA	0.542000														55			32		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77656968	77656968	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:77656968G>A	uc011bgk.2	+	21	3811	c.3168G>A	c.(3166-3168)aaG>aaA	p.K1056K	ROBO2_uc021xat.1_Silent_p.K1068K|ROBO2_uc003dpy.4_Silent_p.K1052K|ROBO2_uc003dpz.3_Silent_p.K1056K|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Silent_p.K179K	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1052					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTGGAAAAAAGAAGAAAAATA	0.423000														29			13		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131620698	131620698	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:131620698A>G	uc010tbm.2	+	22	3039	c.2480A>G	c.(2479-2481)aAc>aGc	p.N827S	GPR133_uc001uit.4_Missense_Mutation_p.N795S|GPR133_uc009zyo.3_Missense_Mutation_p.N77S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	795					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCCACGCTCAACTCCCTGCAG	0.652000														31			13		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713049	32713049	+	Missense_Mutation	SNP	G	A	A	rs147801222	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32713049G>A	uc003obx.3	+	1	254	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	66	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGACGAAAGAGACTGTCTG	0.468000														89			48		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28605652	28605653	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:28605652_28605653GG>AA	uc001bps.3	+	8	1652_1653	c.1256_1257GG>AA	c.(1255-1257)cgg>cAA	p.R419Q		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	419					cell cycle arrest	cytoplasm|nucleus		p.R419W(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTGGAGCGGAACCTCAAGG	0.520000														63			47		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102842385	102842385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:102842385G>A	uc002tbs.3	+	8	1145	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	IL1RL2_uc002tbt.3_Missense_Mutation_p.G222E	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	340					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TACTTGATAGGAGGGCTTATC	0.343000														19			8		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103155810	103155810	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103155810G>A	uc022ajr.1	-	49	8101	c.7941C>T	c.(7939-7941)ggC>ggT	p.G2647G	RELN_uc022ajq.1_Silent_p.G2647G|RELN_uc010liz.3_Silent_p.G2647G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2647					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)		TCTGATCCAGGCCGTCATGTC	0.532000														33			6		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30275462	30275462	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:30275462A>G	uc002kxm.1	-	3	1511	c.1123T>C	c.(1123-1125)Ttc>Ctc	p.F375L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	375						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCCAACACGAACAAGAAGTTT	0.403000														37			23		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49363626	49363626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49363626G>A	uc002pkx.3	-	5	1008	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	PLEKHA4_uc010eml.3_Missense_Mutation_p.R153C	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	153	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCCTCCGCACGGGAGGCCCGG	0.657000														79			22		0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119367315	119367315	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:119367315G>A	uc003ecx.1	-	2	935	c.801C>T	c.(799-801)ctC>ctT	p.L267L	POPDC2_uc010hqw.1_Silent_p.L267L|POPDC2_uc003ecy.1_Silent_p.L85L	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	267						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		GGACATGGTAGAGGCTGGGAA	0.562000														83			40		0	0	1	0	0
IRF7	3665	broad.mit.edu	37	11	613080	613081	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:613080_613081GG>AA	uc001lqg.3	-	7	1723_1724	c.1313_1314CC>TT	c.(1312-1314)tcc>tTT	p.S438F	IRF7_uc009ycb.3_Missense_Mutation_p.S319F|IRF7_uc010qwf.2_Missense_Mutation_p.S424F|IRF7_uc001lqf.3_Missense_Mutation_p.S132F|IRF7_uc010qwg.2_Missense_Mutation_p.S132F|IRF7_uc001lqh.3_Missense_Mutation_p.S425F|IRF7_uc001lqi.3_Missense_Mutation_p.S396F|IRF7_uc010qwh.2_Missense_Mutation_p.S132F	NM_004031	NP_004022	Q92985	IRF7_HUMAN	Homo sapiens interferon regulatory factor 7 (IRF7), transcript variant d, mRNA.	425					MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TATAGCGTGGGGAGCCACGGCG	0.634000														19			4		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88483884	88483884	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:88483884C>A	uc002bme.2	-	14	1992	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P	NTRK3_uc002bmh.2_Silent_p.P554P|NTRK3_uc002bmf.2_Silent_p.P562P|NTRK3_uc021sua.1_Silent_p.P554P|NTRK3_uc010upl.1_Silent_p.P464P|NTRK3_uc010bnh.1_Silent_p.P554P	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	562	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTCCTTGGTCGGGCTGAGGT	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				112			50		3.28156e-27	3.35433e-27	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201047153	201047153	+	Silent	SNP	G	A	A	rs9333651		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:201047153G>A	uc001gvv.3	-	10	1700	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	491					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TAGACATGAAGTACTGGCGCA	0.577000														111			80		0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536586	4536586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:4536586G>A	uc002fyh.3	-	9	1298	c.1273C>T	c.(1273-1275)Cac>Tac	p.H425Y	ALOX15_uc010vsd.2_Missense_Mutation_p.H386Y|ALOX15_uc010vse.2_Missense_Mutation_p.H447Y	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	425	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGCTGCACGTGGCCTCCCCCA	0.582000														10			17		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19076956	19076956	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:19076956G>A	uc002zoq.1	-	1	375	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	DGCR2_uc021wkx.1_Nonsense_Mutation_p.Q43*|DGCR2_uc021wky.1_Intron|DGCR2_uc021wkz.1_Intron|DGCR2_uc011agr.1_Intron|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	43	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGGATGCACTGGATGGTGCCG	0.617000														65			30		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517490	75517490	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:75517490G>A	uc003udw.1	+	3	1002	c.918G>A	c.(916-918)gtG>gtA	p.V306V	RHBDD2_uc003udv.1_Silent_p.V165V	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	306						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTGCTATGTGCAGAACCACT	0.662000														278			80		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818639	214818639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214818639C>T	uc001hkm.3	+	12	5900	c.5726C>T	c.(5725-5727)tCg>tTg	p.S1909L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2005					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGATCAGATCGGAGAAAGCT	0.413000														52			34		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529181	57529181	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:57529181C>T	uc011kdi.1	+	3	1126	c.1014C>T	c.(1012-1014)acC>acT	p.T338T		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TATCCTCAACCCTTAAGAAAC	0.398000														41			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87759716	87759716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:87759716G>A	uc003ujn.3	+	9	982	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	ADAM22_uc003ujj.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujk.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujl.2_Missense_Mutation_p.R256Q|ADAM22_uc003ujm.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujo.3_Missense_Mutation_p.R256Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R308Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	256	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.H255H(1)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAAACATCGGCTTTCCGTT	0.368000														90			28		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036450	21036450	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21036450G>A	uc010sil.2	+	10	1661	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	SLCO1B3_uc001rek.3_Silent_p.R532R|SLCO1B3_uc001rel.3_Silent_p.R532R|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	532					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTGTACAAGGAAATTTTTCA	0.373000														57			18		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409364	80409364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:80409364G>A	uc003kha.2	+	14	2145	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	699	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAGGTCATTGGAATTGTTTTT	0.438000														39			17		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141186	114141186	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:114141186G>A	uc004epu.1	+	5	1313	c.585G>A	c.(583-585)agG>agA	p.R195R	HTR2C_uc010nqc.1_Silent_p.R195R|HTR2C_uc004epv.1_Missense_Mutation_p.G164R	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	195					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGGACTGAGGGACGAAGAAA	0.458000														26			77		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138957149	138957149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:138957149G>A	uc011kqr.2	+	8	1678	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	UBN2_uc003vuv.3_Missense_Mutation_p.E283K	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	560										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATACCAGGAGGACTGCCA	0.393000														137			119		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49699026	49699026	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:49699026T>A	uc003jom.3	-	5	1112	c.863A>T	c.(862-864)aAa>aTa	p.K288I	EMB_uc010ivq.3_Missense_Mutation_p.K82I|EMB_uc003jol.3_Missense_Mutation_p.K219I|EMB_uc011cpy.2_Missense_Mutation_p.K238I	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	288						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGCTTCTTTTTCTTTTGTGT	0.323000														21			25		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76369081	76369081	+	Silent	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:76369081T>A	uc003pid.4	+	7	1273	c.654T>A	c.(652-654)ccT>ccA	p.P218P	SENP6_uc003pie.4_Silent_p.P211P|SENP6_uc003pic.2_Silent_p.P211P|SENP6_uc003pif.1_Silent_p.P109P	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	218					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGCCTACTCCTCCTCTATCTC	0.348000														35			14		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154832805	154832805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:154832805G>A	uc010hvr.1	+	3	430	c.219G>A	c.(217-219)atG>atA	p.M73I	MME_uc003fab.1_Missense_Mutation_p.M73I|MME_uc003fac.1_Missense_Mutation_p.M73I|MME_uc003fad.1_Missense_Mutation_p.M73I|MME_uc003fae.1_Missense_Mutation_p.M73I	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	73					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAAAACATGGATGCCACCA	0.438000														46			71		0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921227	73921227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:73921227G>A	uc003xzd.2	+	0	131	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_Missense_Mutation_p.E36K	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	36	Asp/Glu-rich (acidic).				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAACGACGAGGAGCAGTT	0.662000														28			16		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328206	48328206	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:48328206G>A	uc010rhu.2	+	0	432	c.432G>A	c.(430-432)ggG>ggA	p.G144G		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G144E(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGCTAGCGGGGGCCTCCTGGT	0.567000														49			10		0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89294610	89294610	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89294610C>T	uc021tms.1	+	6	2253	c.1914C>T	c.(1912-1914)acC>acT	p.T638T	ZNF778_uc010vpg.2_Silent_p.T373T|ZNF778_uc002fmv.3_Silent_p.T610T|ZNF778_uc002fmw.2_Silent_p.T568T	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	610					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		ACATAAGAACCCACACCGGTG	0.478000														74			17		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146560419	146560419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:146560419C>T	uc003ikh.4	+	1	213	c.128C>T	c.(127-129)cCg>cTg	p.P43L	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	43						mitochondrion	GTP binding|nucleoside-triphosphatase activity	p.P43P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTGCTCAGCCGTTTAATTCT	0.418000														81			57		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207431961	207431961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207431961G>A	uc002vbq.3	+	14	1632	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	470	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R470L(3)|p.R470*(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCCATTCTCGAAAATTTTCA	0.358000														64			30		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498462	118498463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118498462_118498463CC>TT	uc001ptr.2	+	6	1276_1277	c.923_924CC>TT	c.(922-924)tcc>tTT	p.S308F	PHLDB1_uc010ryh.1_Missense_Mutation_p.S307F|PHLDB1_uc001pts.3_Missense_Mutation_p.S308F|PHLDB1_uc001ptt.3_Missense_Mutation_p.S308F|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S108F|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	308										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGTGCTCGCTCCGAGAGTCCTC	0.668000														41			16		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067751	60067751	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:60067751A>T	uc003jsi.4	-	3	434	c.234T>A	c.(232-234)ttT>ttA	p.F78L	ELOVL7_uc011cqo.2_Intron|ELOVL7_uc010iwk.3_Missense_Mutation_p.F78L|ELOVL7_uc003jsj.4_Missense_Mutation_p.F65L	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	78					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TATACACAGAAAAGAGTACTA	0.348000														12			12		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269779	36269779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:36269779G>A	uc010jwf.2	+	5	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E	PNPLA1_uc010jwe.1_Missense_Mutation_p.G220E|PNPLA1_uc003olw.1_Missense_Mutation_p.G211E	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	306					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGTCTGGAAGGAGCCACACAA	0.587000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			29		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101351016	101351016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:101351016G>A	uc010txj.1	-	0	169	c.110C>T	c.(109-111)tCg>tTg	p.S37L	MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	37										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCCACTGCCCGACGTCGCCTC	0.597000														19			4		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61600305	61600305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:61600305G>A	uc010xev.2	+	6	747	c.657G>A	c.(655-657)atG>atA	p.M219I	SERPINB2_uc010xew.2_Missense_Mutation_p.M219I	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	234					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGTGCAAATGATGTTTATGA	0.363000														65			41		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56969610	56969610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56969610G>A	uc002qne.3	-	5	958	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.S56F|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCTCCGAAAGGAAAGACCTGT	0.498000														29			6		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62664278	62664278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:62664278G>A	uc002yho.3	+	20	2926	c.2758G>A	c.(2758-2760)Gcc>Acc	p.A920T	PRPF6_uc002yhp.3_Missense_Mutation_p.A880T|LINC00176_uc002yhq.3_5'Flank|LINC00176_uc011abq.2_5'Flank	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	920					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					CAAGGACATCGCCAACTGGCA	0.637000														68			4		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813291	214813291	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214813291T>C	uc001hkm.3	+	11	1784	c.1610T>C	c.(1609-1611)tTa>tCa	p.L537S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	537					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAACCATGTTAAGAGATCTT	0.353000														104			50		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961584	85961584	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:85961584G>A	uc003dql.3	+	4	570	c.570G>A	c.(568-570)ctG>ctA	p.L190L	CADM2_uc003dqj.3_Silent_p.L188L|CADM2_uc003dqk.3_Silent_p.L197L|CADM2_uc003dqm.2_Silent_p.L80L|CADM2_uc021xay.1_Silent_p.L80L|CADM2_uc021xaz.1_Silent_p.L80L|CADM2_uc021xba.1_Silent_p.L80L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	188	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCAGCACACTGGACTTCCGAG	0.443000														53			24		0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5172726	5172726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5172726G>A	uc010qyy.2	-	0	874	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	292					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGACAAGTGGATTGAGAAAT	0.388000														91			24		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511027	73511027	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73511027T>C	uc001jsd.3	-	6	1060	c.919A>G	c.(919-921)Aac>Gac	p.N307D	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.N175D	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	307						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						ACCTCAAAGTTTGGAGAGTCA	0.617000														13			4		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	A	A	rs6583274	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567000														12			6		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911944	53911944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:53911944G>A	uc010ydx.2	+	5	1463	c.1136G>A	c.(1135-1137)gGa>gAa	p.G379E	ZNF765_uc002qbm.3_Missense_Mutation_p.G379E|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTTCATACTGGAGAGAAACCT	0.403000														89			56		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959331	45959331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45959331G>A	uc002zfh.1	-	0	748	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	235	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGGCGGCAGAGGAGGGACACG	0.687000														131			32		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908923	158908923	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158908923C>T	uc001ftb.3	+	3	715	c.465C>T	c.(463-465)tcC>tcT	p.S155S	PYHIN1_uc001fta.4_Silent_p.S155S|PYHIN1_uc001ftc.3_Silent_p.S146S|PYHIN1_uc001ftd.3_Silent_p.S155S|PYHIN1_uc001fte.3_Silent_p.S146S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	155					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTAAGATGTCCAAAGAGCAGA	0.468000														65			32		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39782806	39782806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:39782806G>A	uc003xnm.3	+	8	886	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	258					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AGACCCAAAGGAGTTTGCAGG	0.502000														24			13		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118598005	118598005	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:118598005G>A	uc001twx.3	-	18	2593	c.2298C>T	c.(2296-2298)gcC>gcT	p.A766A	TAOK3_uc001twv.3_Silent_p.A306A|TAOK3_uc001tww.3_Silent_p.A596A|TAOK3_uc001twy.4_Silent_p.A766A	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	766					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCAAAATGGCAAGTTTTC	0.418000														106			48		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45368447	45368447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:45368447G>A	uc002ilj.3	+	8	1273	c.1253G>A	c.(1252-1254)gGa>gAa	p.G418E	ITGB3_uc002ili.1_Missense_Mutation_p.G418E|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	418					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTCAAGATTGGAGACACGGTG	0.542000														71			62		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4543548	4543548	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4543548G>A	uc001qmr.1	-	2	504	c.460C>T	c.(460-462)Caa>Taa	p.Q154*		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	154					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CATTCTTCTTGGAAGCTGGGC	0.532000														141			53		0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886691	123886691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123886691G>A	uc010sac.2	+	0	410	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G137V(2)|p.G137W(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ATGATGAGTGGGAGCAGGTGT	0.562000														249			13		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66424473	66424473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66424473G>A	uc002eom.4	+	5	1105	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	CDH5_uc002eon.1_Missense_Mutation_p.G317S	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	317	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCACAACGAGGGCATCATCAA	0.572000														48			41		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872591	55872591	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55872591C>T	uc010riy.2	+	0	73	c.73C>T	c.(73-75)Cag>Tag	p.Q25*		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGAAGAGATCCAGATGGCTCT	0.433000										HNSCC(53;0.14)				148			56		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112168762	112168762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:112168762G>A	uc004bed.2	-	17	1884	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V	PTPN3_uc004beb.2_Missense_Mutation_p.A460V|PTPN3_uc004bec.2_Missense_Mutation_p.A415V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.A546V|PTPN3_uc011lwh.1_Missense_Mutation_p.A437V|PTPN3_uc011lwd.1_Missense_Mutation_p.A59V|PTPN3_uc011lwe.1_Missense_Mutation_p.A304V|PTPN3_uc011lwf.1_Missense_Mutation_p.A259V	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	591					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GATCACCAGGGCCAGCTCCCG	0.572000														52			94		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128400001	128400001	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128400001T>C	uc003qbk.3	-	10	2207	c.1840A>G	c.(1840-1842)Act>Gct	p.T614A	PTPRK_uc010kfc.3_Missense_Mutation_p.T614A|PTPRK_uc003qbj.3_Missense_Mutation_p.T614A|PTPRK_uc011ebu.2_Missense_Mutation_p.T614A|PTPRK_uc003qbl.1_Missense_Mutation_p.T484A|PTPRK_uc011ebv.1_Missense_Mutation_p.T614A	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	614	Fibronectin type-III 4.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AACAATACAGTTATTGTGGTG	0.408000														93			35		0	0	1	0	0
TDGF1	6997	broad.mit.edu	37	3	46620721	46620721	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:46620721G>A	uc003cpv.3	+	3	473	c.89_splice	c.e3-1	p.G30_splice	LRRC2_uc003cpu.4_Intron|TDGF1_uc021wxd.1_Splice_Site_p.G14_splice	NM_003212	NP_001167607	P13385	TDGF1_HUMAN	Homo sapiens teratocarcinoma-derived growth factor 1 (TDGF1), transcript variant 1, mRNA.	30					activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTGTCGTTAAGGGCTGGGCCA	0.488000														35			22		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851330	14851330	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14851330G>A	uc003zlm.3	-	6	1920	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	368					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGATAGGCGATCTGCATGT	0.483000														41			27		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13134709	13134709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13134709G>A	uc002wod.1	+	9	1628	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	447					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AAGACTGCAGGAAATGGGATT	0.418000														58			27		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523649	95523649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:95523649G>A	uc003ygo.2	-	12	3225	c.3154C>T	c.(3154-3156)Cgt>Tgt	p.R1052C	KIAA1429_uc003ygp.3_Missense_Mutation_p.R1052C|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1052					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTATCCAAACGACCTGAGAGG	0.403000														48			17		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24528363	24528363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24528363C>T	uc001wlj.2	+	19	1748	c.1591C>T	c.(1591-1593)Cac>Tac	p.H531Y	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	531										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGAGATCCTCCACAAGCTGGT	0.642000														3			6		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515952	51515952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:51515952G>A	uc010ric.2	+	0	671	c.671G>A	c.(670-672)aGg>aAg	p.R224K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R224R(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGCTCCCTAAGGACTCATAGC	0.483000														46			14		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119044584	119044584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:119044584G>A	uc001lde.1	-	4	1859	c.1660C>T	c.(1660-1662)Ccg>Tcg	p.P554S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	554	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGAATTTTCGGTGGTAGTGGG	0.418000														104			23		0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82049104	82049104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:82049104C>T	uc001kbw.3	-	0	331	c.76G>A	c.(76-78)Gga>Aga	p.G26R		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	26					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTCCCTCTCCCACAGACTCC	0.483000														95			33		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920518	4920518	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:4920518C>T	uc001qng.3	+	0	2177	c.1311C>T	c.(1309-1311)atC>atT	p.I437I	KCNA6_uc021qtr.1_Silent_p.I437I	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	437						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGGGAAAGATCGTGGGCTCGC	0.592000										HNSCC(72;0.22)				82			40		0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63547712	63547712	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:63547712A>G	uc002alz.3	+	3	349	c.253A>G	c.(253-255)Atg>Gtg	p.M85V	RAB8B_uc010uih.2_Missense_Mutation_p.M85V	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	Homo sapiens RAB8B, member RAS oncogene family (RAB8B), mRNA.	85					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ATAGGGCATTATGCTGGTCTA	0.313000														29			16		0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116310980	116310980	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:116310980A>G	uc001efx.4	-	0	447	c.183T>C	c.(181-183)tcT>tcC	p.S61S	CASQ2_uc010owu.2_Silent_p.S61S	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	61					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTTATCTGAAGACACCGGCT	0.468000														119			76		0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760137	102760137	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:102760137C>T	uc011klj.1	-	2	1126	c.1047G>A	c.(1045-1047)tgG>tgA	p.W349*	NAPEPLD_uc003vbd.2_Nonsense_Mutation_p.W276*|NAPEPLD_uc003vbc.2_Nonsense_Mutation_p.W276*|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	276					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAAATCGATTCCAAGGCCCCA	0.458000														93			23		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73326541	73326541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:73326541G>A	uc001jrx.4	+	6	862	c.472G>A	c.(472-474)Gac>Aac	p.D158N	CDH23_uc001jrw.4_Missense_Mutation_p.D158N|CDH23_uc001jry.3_Missense_Mutation_p.D158N|CDH23_uc001jrz.3_Missense_Mutation_p.D158N|CDH23_uc021psl.1_Missense_Mutation_p.D158N|CDH23_uc001jrv.3_Missense_Mutation_p.D153N|CDH23_uc009xql.3_Missense_Mutation_p.D158N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	158	Cadherin 2.				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						GAATGCCACAGACCCCGACTT	0.612000														34			18		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910062	129910062	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:129910062G>T	uc001lke.3	-	10	2302	c.2107C>A	c.(2107-2109)Cac>Aac	p.H703N	MKI67_uc001lkf.3_Missense_Mutation_p.H343N|MKI67_uc009yav.1_Missense_Mutation_p.H278N|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	703					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AATTGACTGTGAACTTCGCCC	0.443000														57			29		2.08457e-15	2.10815e-15	1	1	0
PCNX	22990	broad.mit.edu	37	14	71575489	71575489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:71575489C>T	uc001xmo.2	+	33	6916	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	PCNX_uc010are.1_Missense_Mutation_p.S2046L|PCNX_uc010arf.1_Missense_Mutation_p.S945L|PCNX_uc001xmp.2_Missense_Mutation_p.S241L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2157	Ser-rich.					integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTCAGATATCGCTTCGAAAC	0.567000														52			3		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494239	111494239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:111494239G>A	uc001eaa.3	-	1	1523	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.Q423H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GTCTCCATCTGGGAAGATTTA	0.403000														209			68		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480031	142480031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142480031G>A	uc011ksq.2	+	1	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCTCATCAGCGAACAGTGGGT	0.577000														239			29		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035850	110035850	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110035850C>T	uc010rwc.2	+	5	2043	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	ZC3H12C_uc009yxw.3_Silent_p.F680F|ZC3H12C_uc010rwd.2_Silent_p.F681F|ZC3H12C_uc001pkr.4_Silent_p.F649F	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	680							endonuclease activity|nucleic acid binding|zinc ion binding	p.H681Y(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGCAGAATTTCCACGACCCCT	0.547000														188			56		0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256861	25256861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:25256861C>T	uc003grk.2	+	2	731	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	PI4K2B_uc011bxs.2_Missense_Mutation_p.H104Y	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	200	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				CAACAAGCTTCATCTGAGCAT	0.423000														51			23		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9000234	9000234	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9000234C>T	uc001quz.4	+	14	1871	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	A2ML1_uc001qva.1_Silent_p.L171L|A2ML1_uc010sgm.2_Silent_p.L91L	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	435						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGTGTGCGCTCCGGGCGGTGG	0.612000														133			80		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124096120	124096120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124096120G>A	uc001lgc.1	+	14	1626	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	BTBD16_uc001lgd.1_Missense_Mutation_p.D458N	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	459										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCCCTGGTTGACGGCAAGTG	0.547000														43			26		0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880701	152880701	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:152880701G>A	uc003ezr.3	+	0	673	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	73					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTACATCAAGAACGGCCAGG	0.612000														44			86		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39381963	39381963	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39381963C>T	uc003awo.1	+	2	375	c.321C>T	c.(319-321)ttC>ttT	p.F107F	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F107F|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	107					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGGCCGAATTCCTGTCTGAGC	0.582000														253			161		0	0	1	0	0
ODF3	113746	broad.mit.edu	37	11	198237	198237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:198237G>A	uc001lob.3	+	3	643	c.349G>A	c.(349-351)Gac>Aac	p.D117N	ODF3_uc010qvk.2_Missense_Mutation_p.D117N|ODF3_uc001loc.3_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	117					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTACGTGTTCGACTCAGCACC	0.597000														24			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964189	38964189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38964189G>A	uc002oit.3	+	27	4068	c.3938G>A	c.(3937-3939)gGc>gAc	p.G1313D	RYR1_uc002oiu.3_Missense_Mutation_p.G1313D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1313	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCACCTCCTGGCCTGCAGCCC	0.692000														4			6		0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103696003	103696003	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:103696003G>A	uc001tjt.2	-	5	1054	c.966C>T	c.(964-966)ttC>ttT	p.F322F	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.F322F|C12orf42_uc001tju.2_Silent_p.F227F	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	322										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TCTTGGAGGGGAAATGGGTGG	0.622000														73			38		0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150489374	150489374	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150489374A>C	uc003ltl.2	-	21	1852	c.1624T>G	c.(1624-1626)Tcc>Gcc	p.S542A	ANXA6_uc011dcp.2_Missense_Mutation_p.S510A|ANXA6_uc003lto.2_Missense_Mutation_p.S129A	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	542						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTCCAAGGAAGTTTTGTCT	0.537000														17			3		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262073	125262073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:125262073G>A	uc010flu.3	+	7	1631	c.1267G>A	c.(1267-1269)Ggt>Agt	p.G423S	CNTNAP5_uc002tno.3_Missense_Mutation_p.G422S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	422	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGCCTGGAGGGTGGAATCCT	0.512000														64			28		0	0	1	0	0
C16orf48	84080	broad.mit.edu	37	16	67697082	67697082	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67697082G>A	uc002etw.1	-	6	1306	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ACD_uc002etp.4_5'Flank|ACD_uc002etq.4_5'Flank|ACD_uc002etr.4_5'Flank|ACD_uc010vjt.1_5'Flank|C16orf48_uc002etv.1_Silent_p.F223F	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	341						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCATCTTCACGAAGACTTTGG	0.592000														41			13		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981924	61981924	+	Missense_Mutation	SNP	G	A	A	rs121909580		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:61981924G>A	uc002yes.2	-	4	1017	c.839C>T	c.(838-840)tCc>tTc	p.S280F	CHRNA4_uc002yet.1_Missense_Mutation_p.S104F|CHRNA4_uc010gke.1_Missense_Mutation_p.S209F|CHRNA4_uc002yev.1_Missense_Mutation_p.S104F|CHRNA4_uc010gkf.1_Missense_Mutation_p.S104F	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	280			S -> F (in ENFL1).|S -> L (in ENFL1).		B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CAGCAGCACGGAGATGCACAG	0.592000														75			34		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103125390	103125390	+	Missense_Mutation	SNP	C	T	T	rs146323025		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:103125390C>T	uc002tbz.4	+	5	1943	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	496					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R496C(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTTCATATTCGTGTAAGTTA	0.378000														53			24		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680182	42680182	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:42680182C>T	uc010ggo.3	+	3	688	c.648C>T	c.(646-648)ttC>ttT	p.F216F	TOX2_uc002xle.4_Silent_p.F174F|TOX2_uc010ggp.3_Silent_p.F174F|TOX2_uc002xlf.4_Silent_p.F225F|TOX2_uc010zwk.2_Silent_p.F94F	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AAGTGCATTTCAAGGTATGTG	0.612000														37			26		0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44188388	44188388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:44188388G>A	uc002zbm.3	+	15	1510	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	PDE9A_uc002zbn.3_Missense_Mutation_p.E356K|PDE9A_uc002zbo.3_Missense_Mutation_p.E430K|PDE9A_uc002zbp.3_Missense_Mutation_p.E276K|PDE9A_uc002zbq.3_Missense_Mutation_p.E381K|PDE9A_uc002zbs.3_Missense_Mutation_p.E276K|PDE9A_uc002zbr.3_Missense_Mutation_p.E276K|PDE9A_uc002zbt.3_Missense_Mutation_p.E355K|PDE9A_uc002zbu.3_Missense_Mutation_p.E349K|PDE9A_uc002zbv.3_Missense_Mutation_p.E323K|PDE9A_uc002zbw.3_Missense_Mutation_p.E266K|PDE9A_uc002zbx.3_Missense_Mutation_p.E423K|PDE9A_uc002zby.3_Missense_Mutation_p.E266K|PDE9A_uc002zbz.3_Missense_Mutation_p.E375K|PDE9A_uc002zca.3_Missense_Mutation_p.E442K|PDE9A_uc002zcb.3_Missense_Mutation_p.E457K|PDE9A_uc002zcc.3_Missense_Mutation_p.E382K|PDE9A_uc002zcd.3_Missense_Mutation_p.E397K|PDE9A_uc002zce.3_Missense_Mutation_p.E416K|PDE9A_uc002zcf.3_Missense_Mutation_p.E276K|PDE9A_uc002zcg.3_Missense_Mutation_p.E276K	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	483	Catalytic (By similarity).				platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TTTATTAGAGGAATATTTTAT	0.453000														24			6		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24601303	24601303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:24601303G>A	uc011djo.2	-	1	529	c.29C>T	c.(28-30)tCa>tTa	p.S10L	KIAA0319_uc011djp.2_Intron|KIAA0319_uc003neh.1_Missense_Mutation_p.S10L|KIAA0319_uc011djq.1_5'UTR|KIAA0319_uc011djr.1_Missense_Mutation_p.S10L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	10					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CAGCAGCAATGAAGAGAGCAC	0.532000														132			71		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550408	167550408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:167550408G>A	uc003qvl.3	+	12	3166	c.690G>A	c.(688-690)atG>atA	p.M230I	CCR6_uc010kkm.3_Missense_Mutation_p.M230I|CCR6_uc003qvn.4_Missense_Mutation_p.M230I|CCR6_uc003qvm.4_Missense_Mutation_p.M230I	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	230					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGATGTTCATGATATTTTGTT	0.448000														57			33		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487162	36487162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:36487162C>T	uc002hpz.3	-	10	2311	c.2290G>A	c.(2290-2292)Ggg>Agg	p.G764R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	764						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCTGGTGTCCCCTCGGGTTCC	0.682000														8			3		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254193	16254193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:16254193C>T	uc003car.4	+	5	1790	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	GALNTL2_uc003caq.4_Missense_Mutation_p.R172C	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	439						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R439C(2)		NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GAACAGGGTTCGCATTGCTGA	0.547000														87			34		0	0	1	0	0
FAIM	55179	broad.mit.edu	37	3	138341174	138341174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:138341174C>T	uc003esr.3	+	2	516	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	FAIM_uc003eso.1_Missense_Mutation_p.L120F|FAIM_uc003esq.3_Missense_Mutation_p.L108F|FAIM_uc003esp.3_Missense_Mutation_p.L120F|FAIM_uc003ess.3_Missense_Mutation_p.L86F	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	86					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TGGGAAAAGTCTCAAGAAGTA	0.363000														57			32		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41523980	41523981	+	Missense_Mutation	DNP	GG	AA	AA	rs138109960	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:41523980_41523981GG>AA	uc001uxs.3	-	4	863_864	c.490_491CC>TT	c.(490-492)ccg>TTg	p.P164L	ELF1_uc010tfc.2_Missense_Mutation_p.P140L|ELF1_uc010acd.3_Missense_Mutation_p.P57L	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	164					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P164P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGAGGCTCCCGGTGAGTCTGCA	0.465000														50			63		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934337	176934337	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176934337G>A	uc001glc.3	-	8	1772	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	ASTN1_uc001glb.1_Silent_p.D520D|ASTN1_uc001gld.1_Silent_p.D520D|ASTN1_uc009wwx.1_Silent_p.D520D	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	528					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAAAACCAGGTCAAAGCCTC	0.433000														80			45		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145628392	145628392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:145628392G>A	uc003ijs.2	+	5	1817	c.1137G>A	c.(1135-1137)atG>atA	p.M379I		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	379	Interaction with SHH zinc binding site.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGGATGATATGGAAGAAATGG	0.443000														67			23		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155252741	155252741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:155252741C>T	uc003inw.2	-	9	2359	c.2359G>A	c.(2359-2361)Gga>Aga	p.G787R	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	787	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tcaccttctcctaattcacag	0.483000														22			8		0	0	1	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246726	43246726	+	RNA	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:43246726C>A	uc002iik.1	-	1		c.1494G>T			HEXIM2_uc002iih.1_Silent_p.P137P|HEXIM2_uc010daf.1_Silent_p.P159P|HEXIM2_uc002iii.1_Silent_p.P137P|HEXIM2_uc002iij.1_Silent_p.P137P			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						AAGGCCAGCCCGTGGCCCCCT	0.627000														102			34		1.08052e-11	1.0905e-11	1	1	0
CASP3	836	broad.mit.edu	37	4	185550603	185550603	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:185550603A>G	uc003iwh.3	-	7	920	c.657T>C	c.(655-657)ctT>ctC	p.L219L	CASP3_uc003iwg.3_Missense_Mutation_p.F179S|CASP3_uc003iwi.3_Silent_p.L219L	NM_004346	NP_116786	P42574	CASP3_HUMAN	Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA.	219					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	GCATGGCACAAAGCGACTGGA	0.408000														27			22		0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385509	69385509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:69385509G>A	uc002exc.2	-	0	204	c.148C>T	c.(148-150)Cca>Tca	p.P50S		NM_144676	NP_653277	Q8WW62	TMED6_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 6 (TMED6), mRNA.	50					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						GTGCCTCCTGGAGGTATCATG	0.522000														118			29		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176078637	176078637	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176078637G>A	uc003met.3	+	1	337	c.108G>A	c.(106-108)ctG>ctA	p.L36L	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.L36L|TSPAN17_uc003mew.3_Silent_p.L36L	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	36						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGTTCCTGGCTATCGGCC	0.677000														10			8		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251392	43251392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:43251392G>A	uc003ouq.1	+	13	3193	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	TTBK1_uc021yzs.1_Missense_Mutation_p.E260K	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	972						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCGCTGTGGAGGAGGGGGC	0.682000														39			17		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39717191	39717191	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:39717191G>A	uc001wux.3	+	3	1607	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	MIA2_uc010amy.2_Silent_p.Q402Q	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	471						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGAACTTCCAGAACATTCCAA	0.313000														56			4		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262447	167262447	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167262447G>A	uc002udu.2	-	24	4822	c.4692C>T	c.(4690-4692)ctC>ctT	p.L1564L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1564					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAGCCATGGGGAGGTCCAAAG	0.443000														103			49		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108835	46108835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:46108835G>A	uc003oxy.3	+	2	1132	c.873G>A	c.(871-873)atG>atA	p.M291I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	291						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCCCTCATATGAATGTTTATC	0.328000														29			16		0	0	1	0	0
COA5	493753	broad.mit.edu	37	2	99220616	99220616	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:99220616G>A	uc002syz.3	-	1	251	c.138C>T	c.(136-138)taC>taT	p.Y46Y		NM_001008215	NP_001008216	Q86WW8	COA5_HUMAN	Homo sapiens cytochrome C oxidase assembly factor 5 (COA5), mRNA.	46																	AAGAGTTGCAGTATCCTTCCT	0.338000														71			28		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185201	27185202	+	Splice_Site	DNP	AA	TG	TG			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:27185201_27185202AA>TG	uc003syo.2	-	2	802	c.777_splice	c.e2+1		HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GCGGGGAGAAAAGTTGGGGAAC	0.589000														61			35		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656049	40656049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:40656049C>T	uc002rrx.3	-	0	1396	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	SLC8A1_uc002rry.3_Missense_Mutation_p.E458K|SLC8A1_uc002rsb.2_Missense_Mutation_p.E458K|SLC8A1_uc002rrz.3_Missense_Mutation_p.E458K|SLC8A1_uc002rsa.3_Missense_Mutation_p.E458K|SLC8A1_uc002rsd.4_Missense_Mutation_p.E458K|SLC8A1_uc010fan.1_Missense_Mutation_p.E458K|SLC8A1_uc002rsc.1_Missense_Mutation_p.E458K	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	458	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCAGTAAATTCATAATCAGAC	0.423000														44			30		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128850319	128850319	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128850319A>G	uc003vor.3	+	8	1862	c.1582A>G	c.(1582-1584)Act>Gct	p.T528A	SMO_uc003vos.3_Missense_Mutation_p.T203A	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	528					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATGTTTGGAACTGGCATCGC	0.612000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			86		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404603	179404603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179404603C>T	uc021vsy.1	-	300	90710	c.90485G>A	c.(90484-90486)gGa>gAa	p.G30162E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G23857E|TTN_uc021vta.1_Missense_Mutation_p.G23790E|TTN_uc021vtb.1_Missense_Mutation_p.G23665E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31089							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGGTTTTCCTTTGATTGG	0.393000														48			28		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280808	105280808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:105280808G>A	uc010npd.3	-	0	477	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SERPINA7_uc004eme.2_Missense_Mutation_p.S81F|SERPINA7_uc010npe.2_Missense_Mutation_p.S81F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCCCAAAGGAAAGCATAAC	0.498000														7			41		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701899	181701899	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:181701899G>A	uc009wxt.3	+	19	2872	c.2677G>A	c.(2677-2679)Gac>Aac	p.D893N	CACNA1E_uc001gow.3_Missense_Mutation_p.D893N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D874N|CACNA1E_uc001gox.1_Missense_Mutation_p.D119N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	893					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGAAACTGTGACCCGACTCA	0.677000														53			27		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167675102	167675102	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:167675102C>T	uc010jjd.3	+	26	7131	c.7131C>T	c.(7129-7131)atC>atT	p.I2377I	ODZ2_uc003lzr.4_Silent_p.I2147I|ODZ2_uc003lzt.4_Silent_p.I1750I|ODZ2_uc010jje.3_Silent_p.I1641I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GCCTCATGATCAAACAGCTGC	0.527000														151			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22697965	22697965	+	RNA	SNP	C	T	T	rs112293276		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:22697965C>T	uc021wml.1	+	40		c.4510C>T								Parts of antibodies, mostly variable regions.																		CATCCCTGATCGCTTCTCAGT	0.577000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			12		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036095	57036095	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:57036095G>A	uc010zzp.1	-	4	1614	c.1290C>T	c.(1288-1290)gaC>gaT	p.D430D	APCDD1L_uc002xze.1_Silent_p.D419D	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	419						integral to membrane		p.G429R(1)		large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GCCCGAGGGGGTCTTGTTCCA	0.612000														88			43		0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18542189	18542189	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:18542189C>T	uc002niy.3	+	5	709	c.396C>T	c.(394-396)ccC>ccT	p.P132P	SSBP4_uc010ebp.3_Silent_p.P132P|SSBP4_uc002niz.3_Intron	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	132	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGCCGTCCCCCCACAACCCCA	0.701000														4			12		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769512	118769512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118769512G>A	uc001pug.3	-	7	5077	c.4112C>T	c.(4111-4113)cCc>cTc	p.P1371L	BCL9L_uc009zal.3_Missense_Mutation_p.P1366L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1371	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.P1371A(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGCCGAGAGGGAGTCTGCTC	0.627000														25			13		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121238874	121238874	+	Missense_Mutation	SNP	G	A	A	rs146111884		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121238874G>A	uc003eee.4	-	8	1441	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	438	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCCAAGACCCGAATGAGACCT	0.398000								DNA polymerases (catalytic subunits)						81			38		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67206955	67206955	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:67206955G>A	uc001dcr.3	+	24	2517	c.2300_splice	c.e24-1	p.G767_splice	SGIP1_uc010opd.2_Splice_Site_p.G367_splice|SGIP1_uc001dcs.3_Splice_Site_p.G367_splice|SGIP1_uc001dct.3_Splice_Site_p.G369_splice|SGIP1_uc009wat.3_Splice_Site_p.G561_splice|SGIP1_uc001dcu.3_Splice_Site_p.G272_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	767					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTTTTTTAGGGGTGGGTTCT	0.383000														50			17		0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932124	75932124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:75932124G>A	uc010bkl.2	-	0	541	c.386C>T	c.(385-387)gCc>gTc	p.A129V	IMP3_uc002bat.2_Missense_Mutation_p.A129V	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN	Homo sapiens IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP3), mRNA.	129	S4 RNA-binding.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTCCACAAAGGCCACGGCAGC	0.662000														54			30		0	0	1	0	0
PNRC1	10957	broad.mit.edu	37	6	89790798	89790798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:89790798G>A	uc003pmv.3	+	0	370	c.185G>A	c.(184-186)gGg>gAg	p.G62E	PNRC1_uc021zcp.1_Missense_Mutation_p.G62E|PNRC1_uc003pmx.3_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CATTTCCTAGGGGGAGATGGC	0.711000										Multiple Myeloma(7;0.094)				45			12		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67249976	67249976	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:67249976G>A	uc002jif.2	-	31	5497	c.4279C>T	c.(4279-4281)Cag>Tag	p.Q1427*	ABCA5_uc002jib.2_Nonsense_Mutation_p.Q393*|ABCA5_uc002jic.2_Nonsense_Mutation_p.Q650*|ABCA5_uc002jid.2_Nonsense_Mutation_p.Q344*|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Nonsense_Mutation_p.Q1427*	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1427	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAGTCTTCTGAAGATGTTCT	0.308000														70			59		0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94039822	94039822	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:94039822C>T	uc021qou.1	+	1	282	c.282C>T	c.(280-282)atC>atT	p.I94I		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	94						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCCAGGCTATCTGCTTCTATG	0.562000														54			28		0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187418	37187418	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37187418C>T	uc002hrd.1	+	0		c.1260C>T								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		CCAGAGACACCTACAGAGGTT	0.473000														5			4		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128354040	128354040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128354040C>T	uc002top.3	+	18	2301	c.2248C>T	c.(2248-2250)Cat>Tat	p.H750Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	750	IQ 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTTCCAGGATCATCAGGACAC	0.617000														18			7		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98533273	98533273	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:98533273C>T	uc003upp.3	+	27	4295	c.4086C>T	c.(4084-4086)ctC>ctT	p.L1362L	TRRAP_uc011kis.2_Silent_p.L1362L|TRRAP_uc003upr.3_Silent_p.L1054L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1362					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S1361S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCGTCACTCGTACCTTTAC	0.378000														23			26		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603262	37603262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:37603262G>A	uc002yvg.3	+	13	2259	c.2180G>A	c.(2179-2181)gGg>gAg	p.G727E	DOPEY2_uc011aeb.2_Missense_Mutation_p.G727E	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	727					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAAAAACGGGGGAGAATGG	0.572000														39			20		0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44868783	44868783	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:44868783T>C	uc001jbf.3	-	3	367	c.275A>G	c.(274-276)aAg>aGg	p.K92R	DKFZp547J0510_uc021ppl.1_3'UTR	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	92					G-protein coupled receptor protein signaling pathway|blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTCTCACATCTTGAACCTCCT	0.607000														9			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215218	141215218	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141215218G>A	uc002tvj.1	-	60	10600	c.9628C>T	c.(9628-9630)Cct>Tct	p.P3210S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3210					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTGATTAGGGACTGTAATA	0.403000										TSP Lung(27;0.18)				71			37		0	0	1	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546427	112546427	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:112546427C>A	uc003dzi.1	-	2	443	c.217G>T	c.(217-219)Ggc>Tgc	p.G73C	CD200R1L_uc010hqf.1_Missense_Mutation_p.G52C|CD200R1L_uc011bhw.1_Missense_Mutation_p.G52C	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	73	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GAAGGCTGGCCTCTCAGGATT	0.413000														81			32		3.11337e-16	3.15184e-16	1	1	0
BCAN	63827	broad.mit.edu	37	1	156622102	156622102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156622102G>A	uc001fpp.3	+	7	1696	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	BCAN_uc001fpo.3_Missense_Mutation_p.E454K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	454	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TAAGGCATTggaggaagaaga	0.517000														53			17		0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172390029	172390029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:172390029G>A	uc001gik.3	+	0	202	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	PIGC_uc001gii.1_Intron	NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	2										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGAAAGATGGAAAAAAGAGA	0.423000														19			10		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926730	1926730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:1926730C>T	uc002qxe.3	-	9	1638	c.811G>A	c.(811-813)Gga>Aga	p.G271R	MYT1L_uc002qxd.3_Missense_Mutation_p.G271R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	271					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACACCGTGTCCTTGGGCTAAT	0.413000														98			59		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42275549	42275549	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:42275549A>C	uc001uyj.3	-	27	3413	c.3343T>G	c.(3343-3345)Tgt>Ggt	p.C1115G		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1115						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GCAATGTCACAGATTATATTA	0.328000														26			46		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175362950	175362950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:175362950G>A	uc001gkp.1	-	3	1403	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	TNR_uc009wwu.1_Missense_Mutation_p.S441F|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	441	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATCGAAGGAAAATGAGAA	0.458000														201			99		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593106	179593106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179593106G>A	uc021vsy.1	-	63	15938	c.15713C>T	c.(15712-15714)tCa>tTa	p.S5238L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1899L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6165	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTGAATGATGGAGGAAT	0.368000														11			6		0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141027087	141027087	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:141027087C>T	uc003llk.3	-	9	757	c.706_splice	c.e9-1	p.A236_splice	FCHSD1_uc010jgg.3_Splice_Site|FCHSD1_uc003llj.3_Splice_Site	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	236									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACCAGGGCCTAGAGAGAA	0.572000														31			26		0	0	1	0	0
MAMDC4	158056	broad.mit.edu	37	9	139748356	139748356	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139748356C>T	uc004cjs.3	+	4	632	c.582C>T	c.(580-582)ttC>ttT	p.F194F	MAMDC4_uc011mej.2_5'UTR	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	194	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GGGGTGACTTCCGAGTGAGCT	0.652000														12			11		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118558619	118558619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:118558619G>A	uc001ehk.2	-	28	4324	c.4256C>T	c.(4255-4257)tCc>tTc	p.S1419F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1419						cilium|flagellar axoneme|microtubule		p.S1419Y(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCCTGAAAGGATAACAATGG	0.413000														30			30		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183060	13183060	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:13183060C>T	uc010obg.2	-	1	1056	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	271						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TTTCATTATTCTTGATCAAAT	0.478000														52			17		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66499141	66499141	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:66499141C>T	uc011dxw.2	+	0		c.1370C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		ACCATCAGTCCCTTATCTCTT	0.358000														23			5		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32829755	32829755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:32829755G>A	uc003amn.2	-	8	929	c.929C>T	c.(928-930)tCc>tTc	p.S310F	BPIFC_uc010gwo.2_Missense_Mutation_p.S124F|BPIFC_uc011amb.1_Missense_Mutation_p.S34F	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	310						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAATGGTTGGAAATCTGGAA	0.403000														35			14		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799864	38799864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:38799864G>A	uc003gtl.3	-	3	863	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	TLR1_uc021xnn.1_Missense_Mutation_p.P197S	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	197					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity	p.F196L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTGTTTGTGGGGAACACAATG	0.398000														44			16		0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043865	119043865	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:119043865G>T	uc001lde.1	-	4	2578	c.2379C>A	c.(2377-2379)ttC>ttA	p.F793L		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	793					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCAAATATTTGAAGTGAATAG	0.378000														53			18		2.94398e-08	2.96509e-08	1	1	0
AARD	441376	broad.mit.edu	37	8	117954903	117954904	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:117954903_117954904CC>TT	uc003yof.3	+	1	450_451	c.431_432CC>TT	c.(430-432)tcc>tTT	p.S144F		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	Homo sapiens chromosome 8 open reading frame 85 (C8orf85), mRNA.	144																	ACATCAGACTCCCAAAGCCCAA	0.480000														71			43		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243044	141243044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141243044C>T	uc002tvj.1	-	58	10265	c.9293G>A	c.(9292-9294)gGa>gAa	p.G3098E		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3098					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGGTTTTTTCCAATCCAATC	0.373000										TSP Lung(27;0.18)				27			8		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694797	48694797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:48694797G>A	uc001crn.2	+	3	414	c.362G>A	c.(361-363)gGa>gAa	p.G121E	SLC5A9_uc010oms.1_Intron|SLC5A9_uc001cro.2_Intron|SLC5A9_uc010omt.1_Missense_Mutation_p.G114E|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_Intron	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aggtctggaggagacagaggg	0.532000														107			83		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128291379	128291379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128291379G>A	uc003qbk.3	-	29	4680	c.4313C>T	c.(4312-4314)tCa>tTa	p.S1438L	PTPRK_uc010kfc.3_Missense_Mutation_p.S1445L|PTPRK_uc003qbj.3_Missense_Mutation_p.S1439L|PTPRK_uc011ebu.2_Missense_Mutation_p.S1461L	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1438					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CAACTAAGATGATTCCAGGTA	0.398000														58			25		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725214	4725214	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:4725214G>A	uc003bqc.3	+	25	3611	c.3261G>A	c.(3259-3261)gaG>gaA	p.E1087E	ITPR1_uc021wsi.1_Silent_p.E1093E|ITPR1_uc021wsj.1_Silent_p.E1078E|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1102					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAGGCAGGAGGTGCTCCAGG	0.567000														51			20		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27250966	27250966	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:27250966G>A	uc002hdg.1	-	3	1206	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	PHF12_uc010wbb.1_Nonsense_Mutation_p.Q208*|PHF12_uc002hdi.1_Nonsense_Mutation_p.Q222*|PHF12_uc002hdj.1_Nonsense_Mutation_p.Q226*|PHF12_uc010crw.1_Intron|BC033997_uc002hdl.3_5'Flank|PHF12_uc002hdh.1_Nonsense_Mutation_p.Q9*	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	226	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGGGCAACTGAAATTGGGTG	0.567000														9			8		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524907	10524907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:10524907G>A	uc002czw.3	+	1	589	c.430G>A	c.(430-432)Gat>Aat	p.D144N	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.D144N|ATF7IP2_uc002czv.3_Missense_Mutation_p.D144N|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTCTGAAAACGATTCTGAGCA	0.438000														65			17		0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569723	248569723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248569723C>T	uc010pzm.2	+	0	428	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCATTTCCTTTGTGGGG	0.473000														130			54		0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409767	69409768	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69409767_69409768CC>TT	uc002sfg.3	+	15	1684_1685	c.1328_1329CC>TT	c.(1327-1329)ccc>cTT	p.P443L		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	443					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.S442S(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CCTTCTTCCCCCCGGAAGTGGT	0.426000									Familial Infantile Hemangioma					71			30		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108160067	108160068	+	Missense_Mutation	DNP	CA	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108160067_108160068CA>TT	uc003dxa.1	-	23	2812_2813	c.2755_2756TG>AA	c.(2755-2757)tgg>AAg	p.W919K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	919						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTAATCAGCCACTCGCACTGC	0.495000														68			36		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491078	58491078	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:58491078G>A	uc002qqw.3	-	6	1588	c.970C>T	c.(970-972)Caa>Taa	p.Q324*	ZNF606_uc010yhp.2_Nonsense_Mutation_p.Q234*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTAAAGATTTGATGGCATTCC	0.313000														43			36		0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72120974	72120974	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:72120974G>A	uc010iic.3	+	2	228	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SLC4A4_uc003hfy.3_Silent_p.K37K|SLC4A4_uc010iib.3_Silent_p.K37K|SLC4A4_uc003hfz.3_Silent_p.K37K|SLC4A4_uc003hga.2_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	37						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATGTGCCGAAGAGTTACAGGA	0.433000														105			45		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619375	48619375	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48619375C>T	uc003ctz.2	-	47	4637	c.4636_splice	c.e47-1	p.G1546_splice	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1546	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACAGCAGGTCCCTGAAAACA	0.493000														172			100		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	113961378	113961378	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:113961378C>T	uc004epu.1	+	2	761	c.33C>T	c.(31-33)ttC>ttT	p.F11F	HTR2C_uc010nqc.1_Silent_p.F11F|HTR2C_uc004epv.1_Silent_p.F11F	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	11					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGCATTCATTCCTGTAAGGAT	0.343000														4			19		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681793	69681793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69681793C>T	uc003hee.3	+	0	81	c.56C>T	c.(55-57)tCt>tTt	p.S19F	UGT2B10_uc011cam.2_Missense_Mutation_p.S19F	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	19					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACTTTAGCTCTGGGAGTTGT	0.428000														108			75		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630148	32630148	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:32630148G>A	uc003zrg.1	-	0	5520	c.5430C>T	c.(5428-5430)ccC>ccT	p.P1810P		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1810			P -> L (in dbSNP:rs56342342).		male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAAGCATGAAGGGTTGTTTGG	0.493000														54			15		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112021840	112021840	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:112021840G>A	uc004epr.3	-	10	3228	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	AMOT_uc004eps.3_Silent_p.I661I	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	1070					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTCCCAGGATCTGAATGG	0.408000														47			137		0	0	1	0	0
NKX3-2	579	broad.mit.edu	37	4	13543814	13543814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:13543814C>T	uc003gmx.2	-	1	881	c.805G>A	c.(805-807)Gac>Aac	p.D269N		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	269					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCCAGCAGGTCGGCTGCCATC	0.662000														9			6		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369419	22369419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:22369419C>T	uc010tzu.2	+	0	942	c.844C>T	c.(844-846)Cct>Tct	p.P282S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282H(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTAATATTCCCTTTACGTAA	0.378000														93			21		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123814182	123814182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123814182G>A	uc010sab.2	-	0	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(2)|p.R122C(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527000														21			9		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48234384	48234384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:48234384C>T	uc002eff.1	-	13	2235	c.1885G>A	c.(1885-1887)Gag>Aag	p.E629K	ABCC11_uc002efg.1_Missense_Mutation_p.E629K|ABCC11_uc002efh.1_Missense_Mutation_p.E629K|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	629	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGGCCCCGCTCTCCAATCTGC	0.597000														31			11		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207641903	207641903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207641903G>A	uc001hfw.3	+	2	596	c.477G>A	c.(475-477)atG>atA	p.M159I	CR2_uc001hfv.3_Missense_Mutation_p.M159I|CR2_uc009xch.3_Missense_Mutation_p.M159I|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	159	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACTTCCTATGATCCACAATG	0.443000														43			29		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124459191	124459191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:124459191G>A	uc001lgn.3	-	0	148	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	39								p.S38S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				ATCCTGAAAGGAAGAGTTGGT	0.438000														32			15		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37167250	37167250	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:37167250T>C	uc011cpa.1	-	34	7530	c.7299A>G	c.(7297-7299)ctA>ctG	p.L2433L	C5orf42_uc011coy.1_Silent_p.L933L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.L1508L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2433										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AATTATGTGTTAGTTTCTGTT	0.338000														29			23		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522694	124522694	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:124522694C>T	uc004bln.3	+	5	1131	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	DAB2IP_uc004blo.3_Silent_p.I258I	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	382					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGTGCACATCCTGCAGAGCA	0.632000														11			19		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167666954	167666954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:167666954G>A	uc001gem.3	+	5	1280	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	RCSD1_uc010pli.2_Missense_Mutation_p.E335K	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	365										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCCCAAGCAGGAAAAAGGCAA	0.617000														12			3		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174864	21174864	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:21174864G>A	uc002zsz.4	-	4	579	c.318C>T	c.(316-318)ctC>ctT	p.L106L	PI4KA_uc010gsq.2_Silent_p.L192L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	106					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACATCCCCAAGAGGACATGCA	0.363000														65			35		0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128563	30128563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30128563C>T	uc003npo.3	-	0	149	c.73G>A	c.(73-75)Gag>Aag	p.E25K	TRIM10_uc003npn.2_Missense_Mutation_p.E25K|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	25						cytoplasm	zinc ion binding			ovary(1)	1						GTGACCGGCTCCCTCAGGGTA	0.612000														47			23		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10427798	10427798	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:10427798C>T	uc004cte.4	-	7	1525	c.1335G>A	c.(1333-1335)caG>caA	p.Q445Q	MID1_uc004ctd.4_Silent_p.Q156Q|MID1_uc004ctg.4_Silent_p.Q445Q|MID1_uc004cth.4_Silent_p.Q407Q|MID1_uc004ctk.4_Silent_p.Q445Q|MID1_uc004ctj.4_Silent_p.Q445Q|MID1_uc004cti.4_Silent_p.Q445Q|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004csz.4_Silent_p.Q117Q|MID1_uc004cta.4_Silent_p.Q201Q|MID1_uc004ctb.4_Silent_p.Q105Q|MID1_uc004ctc.4_Silent_p.Q212Q	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	445	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGTAGTGGTTCTGCTTGATGT	0.542000														38			142		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8136957	8136957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:8136957C>T	uc002mjf.3	-	61	8080	c.8063G>A	c.(8062-8064)cGa>cAa	p.R2688Q	FBN3_uc002mje.3_Missense_Mutation_p.R484Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2688						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCACTGCGTCGTGGCCGGTC	0.637000														58			59		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99168299	99168299	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:99168299C>T	uc003yij.4	+	14	2179	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	POP1_uc011lgv.2_Silent_p.P693P|POP1_uc003yik.3_Silent_p.P693P	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	693					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAAAACGGCCCAACTACGTTA	0.433000														151			45		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12963181	12963181	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12963181A>G	uc002mvm.3	+	9	1177	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	MAST1_uc021upp.1_Missense_Mutation_p.N174S	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	350					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGTGGTTCCAACACCCCTGAG	0.617000														39			37		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165791	51165791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51165791C>T	uc002psx.1	-	22	5936	c.5917G>A	c.(5917-5919)Gcc>Acc	p.A1973T	SHANK1_uc002psw.1_Missense_Mutation_p.A1357T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1973	Poly-Ser.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGGAGGCTGAGGGTGAG	0.721000														10			3		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126544086	126544086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126544086G>A	uc003vlr.2	-	3	1269	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.Q320*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Nonsense_Mutation_p.Q41*	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	320					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCTCTTGCTGATAGACAGGT	0.423000										HNSCC(24;0.065)				87			39		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43480185	43480185	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:43480185C>T	uc002iix.3	-	9	1065	c.616_splice	c.e9-1	p.R206_splice	ARHGAP27_uc010dak.3_Splice_Site_p.R179_splice|ARHGAP27_uc010wjl.1_Splice_Site_p.R325_splice	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	547					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					AAGGCTGCCTCTGTGGGAGAG	0.582000														101			34		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950285	45950286	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:45950285_45950286CC>TT	uc001nbv.1	+	13	2166_2167	c.2055_2056CC>TT	c.(2053-2058)tgcctc>tgTTtc	p.L686F	GYLTL1B_uc001nbw.1_Missense_Mutation_p.L655F|GYLTL1B_uc001nbx.1_Missense_Mutation_p.L686F	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	686					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		ATCGTGACTGCCTCCAGGCCCT	0.649000														85			21		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22846622	22846622	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:22846622C>T	uc002nqw.3	+	3	395	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTATTTTGCCCGAGACCTTTG	0.279000														5			7		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001493	49001494	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49001493_49001494CC>TT	uc002pjk.3	-	11	2919_2920	c.2919_2920GG>AA	c.(2917-2922)gcggag>gcAAag	p.E974K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCCCCATTCTCCGCCGCCTTCT	0.634000														63			18		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996174	144996174	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144996174G>A	uc003zaf.1	-	31	8396	c.8226C>T	c.(8224-8226)caC>caT	p.H2742H	PLEC_uc003zab.1_Silent_p.H2605H|PLEC_uc003zac.1_Silent_p.H2609H|PLEC_uc003zad.2_Silent_p.H2605H|PLEC_uc003zae.1_Silent_p.H2573H|PLEC_uc003zag.1_Silent_p.H2583H|PLEC_uc003zah.2_Silent_p.H2591H|PLEC_uc003zaj.2_Silent_p.H2632H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2742	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCGGCCCGGTGCTGCTCCT	0.687000														18			13		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423416	26423416	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26423416G>A	uc003abz.1	+	42	7726	c.7476G>A	c.(7474-7476)ttG>ttA	p.L2492L	MYO18B_uc003aca.1_Silent_p.L2373L|MYO18B_uc010guy.1_Silent_p.L2374L|MYO18B_uc010guz.1_Silent_p.L2372L|MYO18B_uc011aka.1_Silent_p.L1646L|MYO18B_uc011akb.1_Silent_p.L2005L|MYO18B_uc010gva.1_Silent_p.L475L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2492						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGACCATTTTGAAGAAGAGCC	0.532000														25			18		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169195117	169195117	+	Missense_Mutation	SNP	C	T	T	rs144653089	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169195117C>T	uc003irp.3	-	16	2714	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	808	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCACCCCGTCGTCGCTCTCC	0.448000														79			52		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408369	2408369	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2408369G>A	uc010xgx.2	+	6	756	c.756G>A	c.(754-756)acG>acA	p.T252T	TMPRSS9_uc002lvv.1_Silent_p.T286T	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	252	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCCGACGAAGTGGGTGG	0.657000														27			36		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162622179	162622179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:162622179G>A	uc021zhu.1	-	4	750	c.659C>T	c.(658-660)aCg>aTg	p.T220M	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Missense_Mutation_p.T173M|PARK2_uc021zhs.1_Missense_Mutation_p.T173M|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.T173M|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Missense_Mutation_p.T94M|PARK2_uc021zhw.1_Intron|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Missense_Mutation_p.T173M|PARK2_uc010kke.1_Missense_Mutation_p.T173M	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	173	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAAGGTGAGCGTTGCCTGCCT	0.463000														55			30		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619641	52619641	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:52619641G>A	uc001jjj.3	-	2	248	c.60C>T	c.(58-60)ctC>ctT	p.L20L	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Silent_p.L20L|A1CF_uc001jji.3_Silent_p.L20L|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Silent_p.L20L	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	20					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCAGTGCGCGGAGGGCTGCTT	0.478000														84			24		0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46595918	46595918	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46595918C>A	uc002zgy.2	+	3	737	c.302C>A	c.(301-303)aCt>aAt	p.T101N	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.T101N|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.T101N|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.T101N|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.T150N	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	101	DRBM 1.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CTGTCCCAGACTGGGCCCGTG	0.537000														124			42		2.46787e-29	2.52522e-29	1	1	0
IGSF22	283284	broad.mit.edu	37	11	18729410	18729410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18729410C>T	uc009yht.2	-	19	3411	c.3221G>A	c.(3220-3222)cGa>cAa	p.R1074Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	679										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AAGCAAGATTCGGTACACCCC	0.527000														12			3		0	0	1	0	0
PRKAR2B	5577	broad.mit.edu	37	7	106710743	106710743	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:106710743T>C	uc003vdx.3	+	1	500	c.325T>C	c.(325-327)Ttc>Ctc	p.F109L		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	109	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	p.R108*(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AATAAACCGATTCACAAGGCG	0.308000														40			51		0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49760215	49760215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:49760215C>T	uc001vcm.3	+	14	2038	c.1733C>T	c.(1732-1734)tCa>tTa	p.S578L	FNDC3A_uc001vcn.3_Missense_Mutation_p.S578L|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.S504L|FNDC3A_uc001vcq.3_Missense_Mutation_p.S522L	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	578	Fibronectin type-III 4.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGATACATTCACACAGTTTT	0.299000														24			31		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22746188	22746188	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:22746188G>A	uc002yld.2	+	8	1299	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	NCAM2_uc011acb.2_Silent_p.L208L|NCAM2_uc011acc.2_Silent_p.L375L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	350	Ig-like C2-type 4.		L -> P (in dbSNP:rs232518).		neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AACAGAGCCTGGACGGCCGTA	0.408000														58			34		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147029951	147029951	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:147029951G>A	uc010jgo.1	-	2	935	c.787C>T	c.(787-789)Cga>Tga	p.R263*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R263*|JAKMIP2_uc011dbx.1_Nonsense_Mutation_p.R221*|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R263*|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	263						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAATTTCTCGTTTTGGGCTG	0.458000														58			13		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698508	17698508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:17698508G>A	uc002rcl.1	-	0	1199	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RAD51AP2_uc010exn.1_Missense_Mutation_p.S383F	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	392										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCAGTTTTGAGATTTTTCCAG	0.328000														30			20		0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	292007	292008	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:292007_292008TC>AT	uc010qvu.2	+	4	1053_1054	c.938_939TC>AT	c.(937-939)ttc>tAT	p.F313Y	ATHL1_uc001lor.4_Missense_Mutation_p.F136Y|ATHL1_uc001los.1_Missense_Mutation_p.F313Y|ATHL1_uc001lou.4_5'Flank|ATHL1_uc001lov.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	313					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCCTGATGTTCCACCCAGAAG	0.658000														10			6		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30197997	30197997	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:30197997G>A	uc003agr.3	-	13	1698	c.1554C>T	c.(1552-1554)gaC>gaT	p.D518D	ASCC2_uc011akr.2_Silent_p.D442D|ASCC2_uc003ags.3_Intron	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTAGGTTGCGGTCCAGCTGGC	0.637000														5			7		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654499	49654499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49654499C>T	uc001jgu.3	-	9	2377	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E588K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E678K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E635K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E684K|ARHGAP22_uc001jgv.3_Missense_Mutation_p.E376K|ARHGAP22_uc001jgr.3_Missense_Mutation_p.E395K	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	678					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAAAACTCCTCCATTTCCCTC	0.512000														85			36		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348212	120348212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:120348212C>T	uc001pxl.2	+	35	3844	c.3509C>T	c.(3508-3510)tCa>tTa	p.S1170L	ARHGEF12_uc009zat.3_Missense_Mutation_p.S1151L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S1067L|ARHGEF12_uc009zau.1_Missense_Mutation_p.S1067L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1170					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATGGCATTTCAGTCACTGGT	0.393000			T	MLL	AML									37			16		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21992561	21992561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21992561G>A	uc001wbe.3	-	1	1583	c.1301C>T	c.(1300-1302)cCa>cTa	p.P434L	SALL2_uc010tly.2_Missense_Mutation_p.P432L|SALL2_uc010tlz.1_Missense_Mutation_p.P297L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P299L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	434							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TACTGGGTGTGGGTTCATCTG	0.527000														30			37		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16456036	16456036	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16456036G>A	uc001aya.2	-	15	2873	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	906	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.|SAM.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACACCGTGCGGAAGGGCACCC	0.637000														56			36		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484001	31484001	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31484001C>T	uc003ajl.2	+	2	343	c.102C>T	c.(100-102)atC>atT	p.I34I	SMTN_uc003ajk.2_Silent_p.I34I|SMTN_uc003ajm.2_Silent_p.I34I|SMTN_uc011ale.2_Silent_p.I88I|SMTN_uc011alf.2_Silent_p.I90I|SMTN_uc003ajn.2_Silent_p.I26I|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	34					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTCAGCCATCCGGGAACTGC	0.667000														23			23		0	0	1	0	0
NHLRC4	283948	broad.mit.edu	37	16	618306	618306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:618306G>A	uc002chl.3	+	1	855	c.259G>A	c.(259-261)Gag>Aag	p.E87K	PIGQ_uc010bqw.3_Intron|NHLRC4_uc021szs.1_Missense_Mutation_p.E87K|PIGQ_uc002chm.3_5'Flank|PIGQ_uc002chn.3_5'Flank|PIGQ_uc002cho.3_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	Homo sapiens NHL repeat containing 4 (NHLRC4), mRNA.	87																	CCTGGTGTCAGAGGGGCTTGG	0.627000														5			9		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78936462	78936462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:78936462G>A	uc004akc.2	+	29	4466	c.3928G>A	c.(3928-3930)Gaa>Aaa	p.E1310K		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	722					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGTGTGCCAGGAAAACTGCCC	0.537000														22			44		0	0	1	0	0
CCNH	902	broad.mit.edu	37	5	86708573	86708573	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:86708573G>A	uc003kjb.3	-	0	278	c.39C>T	c.(37-39)ttC>ttT	p.F13F	CCNH_uc003kiz.1_5'Flank|CCNH_uc003kja.3_5'UTR	NM_001239	NP_001186118	P51946	CCNH_HUMAN	Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA.	13					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CCTCGCTGGAGAAGGTCCAGT	0.572000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)						34			18		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46629704	46629704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46629704C>T	uc002inn.3	-	0	533	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	HOXB3_uc010wlm.2_5'UTR|HOXB3_uc010dbf.3_Missense_Mutation_p.G45S|HOXB3_uc010dbg.3_Missense_Mutation_p.G45S|HOXB3_uc002ino.3_Missense_Mutation_p.G45S|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_5'UTR	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	45					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGTAGTCGCCCTCCAGGTGC	0.647000														30			42		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885978	20885978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:20885978C>T	uc010sii.2	+	10	1677	c.1322C>T	c.(1321-1323)tCc>tTc	p.S441F	SLCO1C1_uc010sij.2_Missense_Mutation_p.S392F|SLCO1C1_uc009zip.3_Missense_Mutation_p.S275F|SLCO1C1_uc001rei.3_Missense_Mutation_p.S441F|SLCO1C1_uc010sik.2_Missense_Mutation_p.S323F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	441					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTATTTCTTTCCCTGTTTGCA	0.418000														140			73		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21255324	21255324	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:21255324G>A	uc002red.3	-	9	1382	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	418	Vitellogenin.				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)	AGGGCTCGGGGATCAGGGCCA	0.597000														64			23		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56758871	56758871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:56758871C>T	uc003hbe.1	+	13	1876	c.1718C>T	c.(1717-1719)tCa>tTa	p.S573L	EXOC1_uc003hbf.1_Missense_Mutation_p.S573L|EXOC1_uc003hbg.1_Missense_Mutation_p.S558L	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	573					exocytosis|protein transport	exocyst	protein binding	p.V572F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTGCCTGTTTCATCTGAGTAT	0.388000														128			48		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696909	48696909	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48696909G>A	uc003cuf.1	-	2	3369	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	CELSR3_uc003cul.3_Silent_p.I1053I	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1053	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCATCACCTGGATACTGACTG	0.557000														225			125		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103403	52103403	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:52103403C>T	uc001jje.3	-	6	1426	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.E158K|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.E158K|SGMS1_uc021pqo.1_Missense_Mutation_p.E158K|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	164					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.E158K(2)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGTACTCGTTCGTGGACGACC	0.493000														19			13		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592420	50592420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50592420G>A	uc002lfe.2	+	6	1761	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	DCC_uc010xdr.1_Missense_Mutation_p.G230E|DCC_uc010dpf.2_Missense_Mutation_p.G37E	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	382	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTAGGGAGGAAGCAACTTA	0.413000														117			53		0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28712022	28712022	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:28712022A>G	uc002hfb.2	+	1	819	c.762A>G	c.(760-762)ggA>ggG	p.G254G	CPD_uc010wbo.2_Silent_p.G7G|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	254	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TGCTTTCTGGAAATCTGCATG	0.363000														71			100		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6519549	6519550	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6519549_6519550CC>TT	uc001mdw.4	+	2	668_669	c.104_105CC>TT	c.(103-105)ccc>cTT	p.P35L	DNHD1_uc001mdp.3_Missense_Mutation_p.P35L	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	35					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAAGAACAGCCCTTGGCCTGCC	0.535000														207			58		0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8672856	8672856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:8672856C>T	uc001qun.3	+	4	612	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	140	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AGACGGCTTTCCTATTTCCTT	0.403000														67			32		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056998	120056998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:120056998G>A	uc001ehv.1	+	3	997	c.852G>A	c.(850-852)tgG>tgA	p.W284*		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	284					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATTCCAGATGGAGCTTTCCTT	0.478000														99			28		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476485	110476485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:110476485C>T	uc003yne.3	+	48	7528	c.7424C>T	c.(7423-7425)cCa>cTa	p.P2475L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2475					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGCGATATCCAATACATTGG	0.418000										HNSCC(38;0.096)				18			20		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588510	72588510	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72588510A>T	uc002jla.1	+	2	687	c.325A>T	c.(325-327)Aag>Tag	p.K109*	CD300LD_uc002jkz.2_5'Flank|C17orf77_uc021ucq.1_Nonsense_Mutation_p.K109*	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	109						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTAGGAGAAAAGAGGTGTCA	0.423000														70			75		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89800407	89800407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89800407G>A	uc002fos.4	+	8	1532	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	ZNF276_uc010ciq.3_Missense_Mutation_p.D265N|ZNF276_uc002foq.4_Missense_Mutation_p.D404N|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.D265N|ZNF276_uc010cis.3_Missense_Mutation_p.D238N|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.D317N|ZNF276_uc010cit.2_Missense_Mutation_p.D238N	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTTCATGATCGACCGCTACCT	0.627000														41			29		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69575352	69575353	+	Missense_Mutation	DNP	GG	TA	TA	rs140814934		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:69575352_69575353GG>TA	uc002sfi.2	-	10	1142_1143	c.959_960CC>TA	c.(958-960)ccc>cTA	p.P320L	GFPT1_uc002sfh.3_Missense_Mutation_p.P302L	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	320					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CAGCTCGTCCGGGGTGATCTCC	0.450000														125			45		0	0	1	0	0
C7orf23	79161	broad.mit.edu	37	7	86827293	86827293	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86827293G>A	uc003uio.3	-	2	410	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_024315	NP_077291	Q9BU79	CG023_HUMAN	Homo sapiens chromosome 7 open reading frame 23 (C7orf23), mRNA.	66						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(14;0.0058)|all_lung(186;0.191)|Lung NSC(181;0.192)					AAGAGATGCAGACAGCAAAGA	0.373000										HNSCC(41;0.11)				85			76		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038969	185038969	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:185038969C>T	uc003iwc.3	-	3	760	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	206					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCATCTTTCCTCTGCGGAG	0.582000														71			51		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121186413	121186413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:121186413C>T	uc003eee.4	-	23	7049	c.6920G>A	c.(6919-6921)gGa>gAa	p.G2307E	POLQ_uc003eed.3_Missense_Mutation_p.G1479E	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2307					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAATGGCATTCCTCTGTCTGC	0.448000								DNA polymerases (catalytic subunits)						38			29		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76973991	76973992	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:76973991_76973992GG>AA	uc002lmx.3	+	10	1074_1075	c.1060_1061GG>AA	c.(1060-1062)gga>AAa	p.G354K	ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Missense_Mutation_p.G354K|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.G48K	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	354					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATTTATACCGGAAAAGAGACT	0.327000														30			9		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170675	214170675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:214170675C>T	uc001hkh.3	+	1	1069	c.797C>T	c.(796-798)tCg>tTg	p.S266L	PROX1_uc001hkg.1_Missense_Mutation_p.S266L	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	266					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCACTGATTCGGAAAATGAT	0.527000														45			27		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57809164	57809164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57809164G>A	uc010bfw.3	+	9	2783	c.2590G>A	c.(2590-2592)Gaa>Aaa	p.E864K	CGNL1_uc002aeg.3_Missense_Mutation_p.E864K	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	864						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAAGGCGAAGGAAACGCTGAA	0.547000														27			15		0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197276	26197276	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:26197276A>T	uc003ngv.3	-	1	600	c.203T>A	c.(202-204)tTc>tAc	p.F68Y	HIST1H3D_uc021ymt.1_Missense_Mutation_p.F68Y|HIST1H2BF_uc003ngx.3_5'Flank	NM_003530	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3d (HIST1H3D), mRNA.	68					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.P67S(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TAGACGCTGGAATGGCAGTTT	0.632000														83			54		0	0	1	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195525	18195525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:18195525G>A	uc001mnv.1	+	0	1142	c.722G>A	c.(721-723)aGg>aAg	p.R241K		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	241						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTAATTTACAGGATGCACCTG	0.502000														33			15		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50976955	50976955	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50976955C>T	uc002lfe.2	+	22	3931	c.3315C>T	c.(3313-3315)acC>acT	p.T1105T	DCC_uc010dpf.2_Silent_p.T740T	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1105					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1104L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTGTGGTCACCGTTGGTGTCA	0.542000														44			29		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551649	1551649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:1551649C>T	uc010gai.3	-	3	985	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	296	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGCTGTTTCTGTCCGGGAC	0.562000														95			34		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140558223G>A	uc011dai.2	+	0	853	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D202Y(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGAGAGGAAGAA	0.532000														27			3		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500276	71500276	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:71500276A>G	uc011caw.1	+	5	743	c.462A>G	c.(460-462)caA>caG	p.Q154Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	154					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGGAAGCTCAACCCCCTCAGG	0.488000														61			14		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046382	36046382	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36046382G>C	uc002oal.1	-	13	2146	c.2117C>G	c.(2116-2118)cCc>cGc	p.P706R	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	706					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CTTCTGCTGGGGGCTGGTGCG	0.662000														20			14		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664813	5664813	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5664813C>T	uc001mbh.3	+	7	1498	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Silent_p.F801F|TRIM6-TRIM34_uc001mbi.3_Silent_p.F447F|TRIM6-TRIM34_uc009yer.3_Intron	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	801						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)		TCTCATTTTTCAATGTCACAA	0.468000														58			30		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895506	42895506	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:42895506A>G	uc003gwt.3	+	0	224	c.223A>G	c.(223-225)Aat>Gat	p.N75D		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	75					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TGAGAATGAGAATGACCAGGA	0.463000														118			47		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912183	54912183	+	Silent	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:54912183G>C	uc002iur.3	+	1	207	c.27G>C	c.(25-27)ccG>ccC	p.P9P	DGKE_uc002ius.1_Silent_p.P9P|C17orf67_uc002iuq.3_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	9					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGCCGGCGCCGGGCTCGCCCT	0.652000														408			114		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151962193	151962193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:151962193C>T	uc003wla.3	-	7	1333	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	372					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCGCTATATCCAGGCACATT	0.453000			N		medulloblastoma									619			35		0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170913224	170913224	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:170913224G>T	uc003isp.4	-	2	713	c.535C>A	c.(535-537)Cta>Ata	p.L179I	MFAP3L_uc003isn.4_Missense_Mutation_p.L76I|MFAP3L_uc021xuj.1_Missense_Mutation_p.L76I	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	179						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GTCTTCTTTAGATGGCTGCTC	0.517000														84			32		1.836e-18	1.86252e-18	1	1	0
ANKRD11	29123	broad.mit.edu	37	16	89347874	89347874	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89347874G>A	uc002fmx.1	-	8	5537	c.5076C>T	c.(5074-5076)tcC>tcT	p.S1692S	ANKRD11_uc002fmy.1_Silent_p.S1692S|ANKRD11_uc002fnc.1_Silent_p.S1692S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1649S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1692						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CAGGCCTGGGGGACGCAGGCA	0.637000														71			57		0	0	1	0	0
ETHE1	23474	broad.mit.edu	37	19	44011004	44011004	+	Nonstop_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44011004A>G	uc002owp.3	-	6	830	c.763T>C	c.(763-765)Tga>Cga	p.*255R	PHLDB3_uc002own.4_5'Flank|PHLDB3_uc002owo.3_5'Flank	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	0						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				AAGTGAGATCAGGCAGTGGGT	0.522000														71			25		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12975863	12975863	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:12975863C>T	uc002mvm.3	+	13	1637	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	503	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCTACAGCCTCCTTATCACCT	0.557000														39			44		0	0	1	0	0
ZBTB33	10009	broad.mit.edu	37	X	119388866	119388866	+	Silent	SNP	T	C	C	rs141549568	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:119388866T>C	uc022cdm.1	+	0	1596	c.1596T>C	c.(1594-1596)ccT>ccC	p.P532P	ZBTB33_uc010nqm.1_Silent_p.P532P|ZBTB33_uc004esn.1_Silent_p.P532P	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	532	Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity).				Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.P532L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTATTTCCTCTTGCAGAAT	0.423000														27			107		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29126391	29126391	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:29126391C>T	uc002kwu.4	+	14	3230	c.3042C>T	c.(3040-3042)gtC>gtT	p.V1014V	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	1014					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCTTACGTCATGGTGAGGG	0.502000														39			35		0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094851	139094851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:139094851G>A	uc003qie.3	+	0	195	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	14								p.Q13Q(1)|p.Q13H(1)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GGGGGAGCAGGAAAAGGCGGG	0.617000														134			77		0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90492292	90492292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:90492292C>T	uc010qmv.2	+	4	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	218					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACAACCCTTTCCAGGCGAGTA	0.353000														102			46		0	0	1	0	0
SPIN2A	54466	broad.mit.edu	37	X	57162278	57162278	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:57162278G>A	uc022bxx.1	-	0	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	SPIN2A_uc004dvb.3_Silent_p.V251V|SPIN2B_uc022bxy.1_Non-coding_Transcript	NM_019003	NP_061876	Q99865	SPI2A_HUMAN	Homo sapiens spindlin family, member 2A (SPIN2A), mRNA.	251					cell cycle|gamete generation			p.V251V(2)		breast(1)|kidney(1)|ovary(1)	3						CCAAATCGTAGACATAGATAT	0.373000														12			23		0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2583265	2583266	+	Missense_Mutation	DNP	GG	AA	AA	rs143192367		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:2583265_2583266GG>AA	uc003smi.3	-	4	1049_1050	c.761_762CC>TT	c.(760-762)ccc>cTT	p.P254L	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.P79L|BRAT1_uc003smj.2_Missense_Mutation_p.P254L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	254					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGTGTGCGGCGGGGATGGGGTC	0.683000														89			28		0	0	1	0	0
NDUFAF5	79133	broad.mit.edu	37	20	13773846	13773846	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:13773846C>T	uc002wom.3	+	3	391	c.348C>T	c.(346-348)ttC>ttT	p.F116F	NDUFAF5_uc002woo.3_Non-coding_Transcript|NDUFAF5_uc002won.3_Missense_Mutation_p.S123F	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN	Homo sapiens chromosome 20 open reading frame 7 (C20orf7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity										GAAAGTTTTTCCAAGCTGACA	0.313000														88			27		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625947	140625947	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140625947G>A	uc003lje.3	+	0	801	c.801G>A	c.(799-801)agG>agA	p.R267R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	267	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGCTAGGGATTTAGACA	0.498000														23			4		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658916	49658916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49658916C>T	uc001jgu.3	-	8	1601	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	ARHGAP22_uc001jgs.3_Missense_Mutation_p.G329E|ARHGAP22_uc001jgt.3_Missense_Mutation_p.G419E|ARHGAP22_uc010qgl.2_Missense_Mutation_p.G376E|ARHGAP22_uc010qgm.2_Missense_Mutation_p.G425E|ARHGAP22_uc001jgv.3_Missense_Mutation_p.G117E|ARHGAP22_uc001jgr.3_Missense_Mutation_p.G136E	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	419	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTTCTTCCCAGGGCTGCA	0.726000														15			5		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150923520	150923520	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:150923520C>G	uc003lue.4	-	8	7181	c.7168G>C	c.(7168-7170)Gaa>Caa	p.E2390Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2390	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCCAGTTCACTGACATTG	0.498000														32			39		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401339	23401339	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:23401339G>A	uc003swg.3	-	3	573	c.307C>T	c.(307-309)Cag>Tag	p.Q103*		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	103	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ACTCCATACTGGACTAGTAAA	0.363000														31			17		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568264	7568264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:7568264C>T	uc002cys.2	+	4	1131	c.143C>T	c.(142-144)cCc>cTc	p.P48L	RBFOX1_uc010buf.1_Missense_Mutation_p.P48L|RBFOX1_uc002cyr.1_Missense_Mutation_p.P48L|RBFOX1_uc002cyt.2_Missense_Mutation_p.P48L|RBFOX1_uc010uxz.1_Missense_Mutation_p.P91L|RBFOX1_uc010uya.1_Missense_Mutation_p.P84L|RBFOX1_uc002cyv.1_Missense_Mutation_p.P48L|RBFOX1_uc010uyb.1_Missense_Mutation_p.P48L|RBFOX1_uc002cyw.2_Missense_Mutation_p.P68L|RBFOX1_uc002cyy.2_Missense_Mutation_p.P68L|RBFOX1_uc002cyx.2_Missense_Mutation_p.P68L|RBFOX1_uc010uyc.1_Missense_Mutation_p.P68L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	48					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.S47L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CATCCCCACCCCGCGCCAGAG	0.662000														114			93		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11022919	11022919	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:11022919G>A	uc003jfa.1	-	16	3106	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	CTNND2_uc010itt.2_Silent_p.I896I|CTNND2_uc011cmy.1_Silent_p.I650I|CTNND2_uc011cmz.1_Silent_p.I554I|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.I579I	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	987					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I987I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCAACTTCTCGATGCCACCGG	0.498000														42			30		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745851	14745851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14745851G>A	uc003byy.3	+	6	1338	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	C3orf20_uc003byz.3_Missense_Mutation_p.E174K|C3orf20_uc003bza.3_Missense_Mutation_p.E174K|C3orf20_uc003byx.2_Intron	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	296						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGAGAAGCTGAAAGGGCCAC	0.498000														33			15		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47274581	47274581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:47274581C>T	uc003bib.3	+	4	836	c.670C>T	c.(670-672)Cct>Tct	p.P224S	TBC1D22A_uc010haf.3_Missense_Mutation_p.P194S|TBC1D22A_uc003bie.3_Missense_Mutation_p.P146S|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.P177S	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	224	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity	p.I223M(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GTCCGGAATCCCTAAGCCAGT	0.527000														87			41		0	0	1	0	0
GRINA	2907	broad.mit.edu	37	8	145065438	145065438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:145065438C>T	uc003zan.1	+	1	213	c.47C>T	c.(46-48)cCc>cTc	p.P16L	GRINA_uc003zao.1_Missense_Mutation_p.P16L|GRINA_uc003zap.1_Missense_Mutation_p.P16L	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	16	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AACTATCCTCCCCCCAACCCT	0.627000														46			32		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187698694	187698694	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187698694G>A	uc002upu.1	-	5	847	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	269					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAAACGTGTGGGAAAGATGGC	0.358000														39			21		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625494	19625494	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:19625494G>A	uc001umb.1	-	7		c.3029C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TCTTGGGGTGGGACAGGAAGG	0.552000														4			7		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127569209	127569209	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:127569209A>G	uc001ljf.1	-	0	676	c.185T>C	c.(184-186)cTt>cCt	p.L62P	DHX32_uc001ljg.1_Missense_Mutation_p.L62P	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	62						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCATATAGGAAGATCTTCTCT	0.388000														33			19		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117692581	117692581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:117692581C>T	uc004bji.2	-	0	295	c.3G>A	c.(1-3)atG>atA	p.M1I	TNFSF8_uc022bmi.1_Missense_Mutation_p.M1I	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	1					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCCTGGGTCCATTCTTTATA	0.562000														17			37		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169353714	169353714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:169353714G>A	uc021xuh.1	-	10	1518	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	DDX60L_uc003irq.4_Missense_Mutation_p.P470S|DDX60L_uc003irr.1_Missense_Mutation_p.P470S|DDX60L_uc003irs.1_Missense_Mutation_p.P197S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	470							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGAACAACCGGATCATCACTG	0.333000														16			6		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157053673	157053673	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:157053673G>A	uc003lxb.1	-	4	2279	c.1937C>T	c.(1936-1938)cCa>cTa	p.P646L	SOX30_uc003lxc.1_Nonsense_Mutation_p.Q482*|SOX30_uc011dds.1_Missense_Mutation_p.P341L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	646	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGCATTCTGGCATTGAACT	0.398000														21			18		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102800	168102800	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:168102800T>C	uc002udx.3	+	8	4987	c.4898T>C	c.(4897-4899)gTt>gCt	p.V1633A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.V1458A|XIRP2_uc010fpq.3_Missense_Mutation_p.V1411A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1458					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						AAGGGAAATGTTAATTTGACT	0.328000														18			18		0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011787	46011787	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46011787G>T	uc002zfm.3	-	0	600	c.579C>A	c.(577-579)ccC>ccA	p.P193P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	193	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGCTGGGCTCACAGA	0.647000														199			19		2.98393e-07	3.00225e-07	1	1	0
PDILT	204474	broad.mit.edu	37	16	20371928	20371928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20371928C>T	uc002dhc.1	-	10	1691	c.1468G>A	c.(1468-1470)Gaa>Aaa	p.E490K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	490					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATGTGGCTTTCCAGGAAGTCA	0.468000														190			44		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52895477	52895477	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:52895477C>T	uc002lga.3	-	19	2361	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	TCF4_uc021ukg.1_Silent_p.S501S|TCF4_uc021ukh.1_Silent_p.S501S|TCF4_uc002lfw.4_Silent_p.S505S|TCF4_uc010xdu.1_Silent_p.S531S|TCF4_uc010xdv.1_Silent_p.S531S|TCF4_uc021uki.1_Silent_p.S590S|TCF4_uc002lfx.2_Silent_p.S594S|TCF4_uc010xdw.1_Silent_p.S531S|TCF4_uc002lfy.2_Silent_p.S619S|TCF4_uc010xdx.1_Silent_p.S637S|TCF4_uc021ukj.1_Silent_p.S601S|TCF4_uc021ukk.1_Silent_p.S605S|TCF4_uc021ukl.1_Silent_p.S658S|TCF4_uc002lfz.2_Silent_p.S661S|TCF4_uc010dph.1_Silent_p.S665S|TCF4_uc010dpi.3_Silent_p.S671S|TCF4_uc010xdy.1_Silent_p.S641S	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	661					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGTGATTCGATGCGTCTC	0.488000														63			40		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502478	20502478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20502478G>A	uc010tkz.2	-	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S147F(2)|p.L146V(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGCATAGGAGGATAACAGTAG	0.463000														49			66		0	0	1	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6628278	6628278	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:6628278T>C	uc003sqi.3	+	8	1130	c.772T>C	c.(772-774)Ttc>Ctc	p.F258L	ZDHHC4_uc003sql.3_Missense_Mutation_p.F258L|ZDHHC4_uc003sqj.3_Missense_Mutation_p.F258L|ZDHHC4_uc003sqh.3_Missense_Mutation_p.F258L|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	258						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACGGATTGTCTTCATGCTGGG	0.512000														183			78		0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243537	56243537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56243537C>T	uc002qly.3	-	1	1688	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	554						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AATTCTTTTTCCTGAGTTTCA	0.348000														34			16		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981753	89981753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89981753G>A	uc003kju.3	+	28	6527	c.6431G>A	c.(6430-6432)gGa>gAa	p.G2144E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2144					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACTAGAACAGGAGGAGCATTT	0.418000														6			5		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814478	137814478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:137814478C>T	uc002tva.1	+	1	535	c.535C>T	c.(535-537)Cct>Tct	p.P179S	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.P69S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R178Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATAGCTCCCCCTCTCTTTGG	0.488000														198			86		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50744602	50744602	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:50744602G>A	uc002egm.1	+	3	885	c.780G>A	c.(778-780)tgG>tgA	p.W260*	NOD2_uc021tia.1_Nonsense_Mutation_p.W92*|NOD2_uc010cbk.1_Nonsense_Mutation_p.W233*|NOD2_uc002egl.1_Nonsense_Mutation_p.W38*|NOD2_uc010cbl.1_Nonsense_Mutation_p.W38*|NOD2_uc010cbm.1_Nonsense_Mutation_p.W38*|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	260					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGGAGGTCTGGGCAGATGTGG	0.607000														22			9		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072455	20072455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:20072455C>T	uc003wzp.3	+	9	1268	c.1054C>T	c.(1054-1056)Cct>Tct	p.P352S		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	352					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TACTCAAATCCCTATTCTAAC	0.418000														92			50		0	0	1	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193059	102193059	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102193059C>T	uc004ejs.3	+	0	860	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	271					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						AAAACTGCACCAGAAACAGCT	0.507000														18			38		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82434923	82434923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:82434923C>T	uc001dit.4	+	13	2715	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.S845F|LPHN2_uc001div.3_Missense_Mutation_p.S845F|LPHN2_uc009wcd.3_Missense_Mutation_p.S845F|LPHN2_uc001diw.3_Missense_Mutation_p.S429F|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	858					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.I844V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATTGTCATTTCCCTTGTTTGC	0.398000														121			42		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:108818259C>T	uc003dxl.3	-	5	456	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_uc011bhn.2_Silent_p.T123T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343000														39			14		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50951635	50951635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50951635C>T	uc002psf.2	+	12	1511	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	487	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATCACCATTTCCCATGTAGGC	0.522000														178			58		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739054	3739054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:3739054G>A	uc010xhv.2	+	11	1652	c.1652G>A	c.(1651-1653)cGa>cAa	p.R551Q	TJP3_uc010xhs.2_Missense_Mutation_p.R518Q|TJP3_uc010xht.2_Missense_Mutation_p.R482Q|TJP3_uc010xhu.2_Missense_Mutation_p.R527Q|TJP3_uc010xhw.2_Missense_Mutation_p.R537Q	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	532	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACGCACGAGGAGGCCAC	0.692000														35			54		0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400005	13400005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:13400005C>T	uc002gob.1	-	1	1528	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	244						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCACCGGGTCCCGCACCACC	0.632000														39			43		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150257024	150257025	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150257024_150257025CC>TT	uc001euj.3	+	3	988_989	c.539_540CC>TT	c.(538-540)acc>aTT	p.T180I	C1orf51_uc001euh.3_Missense_Mutation_p.T180I|C1orf51_uc001eui.3_Missense_Mutation_p.T92I	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	180										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCTAGGAACCTTGCTACAGG	0.441000														43			39		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24515547	24515548	+	Missense_Mutation	DNP	GG	AA	AA	rs144331024		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:24515547_24515548GG>AA	uc002zzi.1	+	27	4641_4642	c.4514_4515GG>AA	c.(4513-4515)cgg>cAA	p.R1505Q	CABIN1_uc021wnc.1_Missense_Mutation_p.R1455Q|CABIN1_uc002zzj.1_Missense_Mutation_p.R1426Q|CABIN1_uc002zzl.2_Missense_Mutation_p.R1505Q	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1505					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGAGCAGCGGCAGTTTCTCA	0.639000														89			72		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830118	26830118	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26830118C>T	uc003acg.2	+	1	934	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	179					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGCCCTATTTCTCCCGGGACG	0.577000														32			31		0	0	1	0	0
AK096803	0	broad.mit.edu	37	7	100606878	100606878	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100606878C>T	uc003uxm.1	-	2		c.1952_splice	c.e2+1		MUC3A_uc003uxk.1_Intron|MUC3A_uc003uxl.1_Intron|AK096803_uc003uxn.1_Splice_Site|MUC3A_uc010lhn.1_5'Flank					Homo sapiens cDNA FLJ32697 fis, clone TESTI2000372.																		CCATTCCTTTCTTTTGTAATC	0.478000														4			6		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38802817	38802817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38802817G>A	uc003ciq.3	-	5	749	c.749C>T	c.(748-750)aCc>aTc	p.T250I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	250					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGTGAGGATGGTCACATCAGC	0.498000														47			16		0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643743	82643743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:82643743C>T	uc001ozt.3	+	5	1607	c.1363C>T	c.(1363-1365)Cat>Tat	p.H455Y	C11orf82_uc010rsr.2_Missense_Mutation_p.H154Y|C11orf82_uc010rss.2_Missense_Mutation_p.H154Y|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	455					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGATAAATTTCATGCAGACCA	0.423000														28			17		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100450	3100450	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3100450G>A	uc002cth.3	+	3	801	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MMP25_uc002cti.1_Silent_p.L124L	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	188					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						TCGACGGGTTGGGGGGCACCC	0.602000														22			35		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2799783	2799783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2799783G>A	uc002lwj.3	+	4	738	c.583G>A	c.(583-585)Gag>Aag	p.E195K	THOP1_uc010xgz.2_Missense_Mutation_p.E74K	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	195					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCTCCAGGAGCTAGGTAG	0.627000														87			8		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898085	104898085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:104898085G>A	uc003yls.3	+	1	833	c.592G>A	c.(592-594)Gga>Aga	p.G198R	RIMS2_uc003ylp.3_Missense_Mutation_p.G420R|RIMS2_uc003ylw.2_Missense_Mutation_p.G228R|RIMS2_uc003ylq.3_Missense_Mutation_p.G228R|RIMS2_uc003ylr.3_Missense_Mutation_p.G228R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	451					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGAGGCTCAGGGACCAAGTTC	0.478000										HNSCC(12;0.0054)				31			25		0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943807	1943807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:1943807G>A	uc001qjt.2	+	4	1839	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.E345K|LRTM2_uc010sdx.1_Missense_Mutation_p.E345K|LRTM2_uc001qjv.2_Missense_Mutation_p.E107K	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	345						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GTACCACCGGGAGCTCAAAAA	0.647000														56			25		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653886	69653886	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:69653886G>A	uc010kak.3	+	5	1471	c.1195_splice	c.e5+1	p.V399_splice	BAI3_uc003pev.4_Splice_Site_p.V399_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	399					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTTGCCCAGGTGAGCCTAT	0.403000														74			19		0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67228832	67228832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67228832C>T	uc002erz.3	+	5	820	c.757C>T	c.(757-759)Cct>Tct	p.P253S		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	253					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CACTGCTGTCCCTGGCAGTGC	0.582000														47			38		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834651	21834651	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21834651G>A	uc001wao.2	-	7	1332	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	331					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTAACCACGTCCATGACAG	0.353000														162			17		0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70845917	70845917	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:70845917G>A	uc002jjb.3	-	5	593	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	SLC39A11_uc002jja.3_Nonsense_Mutation_p.Q153*	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	160					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTCTTTCTCTGATATGCCTCA	0.532000														57			17		0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115146917	115146917	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:115146917T>C	uc003krg.3	-	2	655	c.344A>G	c.(343-345)aAt>aGt	p.N115S		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	115					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	GACCATCTCATTGGATTTTTT	0.408000														171			26		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31323108	31323108	+	Missense_Mutation	SNP	G	A	A	rs138589959		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:31323108G>A	uc003jhe.2	+	11	2426	c.2066G>A	c.(2065-2067)cGa>cAa	p.R689Q		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R689Q(2)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACAAATTACGAAGGGACATT	0.498000														57			12		0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52632527	52632527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:52632527G>A	uc001saa.1	+	3	788	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	221	Coil 1B.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCTGAATGATGAGATCAACTT	0.562000														112			47		0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959559	53959559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:53959559C>T	uc010eqp.3	+	6	2256	c.1798C>T	c.(1798-1800)Cat>Tat	p.H600Y	ZNF761_uc010ydy.2_Missense_Mutation_p.H546Y|ZNF761_uc002qbt.2_Missense_Mutation_p.H546Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCAGAAAATTCATACTGAAGA	0.413000														99			22		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226446812	226446812	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:226446812T>C	uc002voe.2	+	3	854	c.679T>C	c.(679-681)Tcc>Ccc	p.S227P	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	227																	GCGGGACTCCTCCTTGTCCCA	0.582000														122			91		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2185486	2185486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:2185486G>A	uc001lvq.3	-	13	1583	c.1564C>T	c.(1564-1566)Cat>Tat	p.H522Y	TH_uc001lvp.3_Missense_Mutation_p.H518Y|TH_uc001lvr.3_Missense_Mutation_p.H491Y|TH_uc010qxj.2_Missense_Mutation_p.H495Y|TH_uc001lvs.3_Missense_Mutation_p.H397Y|TH_uc001lvt.3_Missense_Mutation_p.H401Y	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	522					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCAGCGCATGGGCAAGGGTG	0.682000														9			4		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131469628	131469628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131469628C>T	uc004bvw.3	+	5	1172	c.779C>T	c.(778-780)gCg>gTg	p.A260V	PKN3_uc010myh.3_Missense_Mutation_p.A260V|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	260					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TTGCGGGCTGCGGTGCCTGGA	0.612000														48			3		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126306834	126306834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:126306834G>A	uc001qea.3	-	11	1785	c.1424C>T	c.(1423-1425)aCc>aTc	p.T475I	KIRREL3_uc001qeb.3_Missense_Mutation_p.T475I|KIRREL3_uc001qec.1_Missense_Mutation_p.T475I|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	475	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCCCTCCTCGGTGCTGATGGT	0.632000														14			7		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2537024	2537024	+	Nonsense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:2537024G>C	uc001ajy.2	-	8	1003	c.789C>G	c.(787-789)taC>taG	p.Y263*	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	263					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.R262Q(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTGAAGTAGTACTCTCGGG	0.652000														64			31		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074344	9074344	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:9074344C>G	uc001qvd.3	+	4	610	c.454C>G	c.(454-456)Cgg>Ggg	p.R152G	PHC1_uc001qvc.1_Missense_Mutation_p.R115G|PHC1_uc010sgn.1_Missense_Mutation_p.R152G|PHC1_uc001qve.3_Missense_Mutation_p.R152G	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	152					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.R152W(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GATGTATCTACGGGTAAGCCA	0.527000														89			48		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79296452	79296452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:79296452G>A	uc002beq.3	-	15	2564	c.2189C>T	c.(2188-2190)tCc>tTc	p.S730F	RASGRF1_uc002bep.3_Missense_Mutation_p.S714F|RASGRF1_uc010blm.1_Missense_Mutation_p.S639F|RASGRF1_uc002ber.4_Missense_Mutation_p.S714F|RASGRF1_uc010unh.1_Missense_Mutation_p.S125F|RASGRF1_uc002beo.3_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	730	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCGCGCGGGGACTTGGGGGG	0.627000														74			41		0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45960789	45960789	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:45960789G>A	uc001cnw.3	-	4	850	c.380C>T	c.(379-381)tCc>tTc	p.S127F	CCDC163P_uc001cnt.3_Non-coding_Transcript|CCDC163P_uc001cnu.3_Non-coding_Transcript|CCDC163P_uc001cnv.3_Non-coding_Transcript|CCDC163P_uc009vxt.2_3'UTR|CCDC163P_uc009vxu.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 163, pseudogene (CCDC163P), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)	2						TCTGGGCATGGAGCTGAAAGA	0.473000														62			18		0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118925984	118925984	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118925984G>C	uc001puu.2	-	4	525	c.332C>G	c.(331-333)cCc>cGc	p.P111R	HYOU1_uc001put.2_Missense_Mutation_p.P76R|HYOU1_uc010ryu.1_Missense_Mutation_p.P131R|HYOU1_uc010ryv.1_Intron|HYOU1_uc001pux.3_Missense_Mutation_p.P111R|HYOU1_uc010ryw.2_Non-coding_Transcript|HYOU1_uc001puw.1_Missense_Mutation_p.P111R	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	111						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGCTACATGGGGGTTATCTGC	0.542000														106			42		0	0	1	0	0
IFT43	112752	broad.mit.edu	37	14	76488726	76488726	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:76488726G>A	uc001xsg.2	+	2	238	c.204G>A	c.(202-204)gtG>gtA	p.V68V	IFT43_uc001xsf.2_Non-coding_Transcript|IFT43_uc010asl.1_Silent_p.V68V|IFT43_uc010asm.1_Silent_p.V68V|IFT43_uc010tve.2_Non-coding_Transcript|IFT43_uc001xse.2_Silent_p.V68V	NM_052873	NP_443105	Q96FT9	IFT43_HUMAN	Homo sapiens intraflagellar transport 43 homolog (Chlamydomonas) (IFT43), transcript variant 1, mRNA.	68					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGATTCCGTGAAGGCTTCGA	0.478000														179			8		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766603	77766603	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:77766603C>T	uc003yau.2	+	9	7833	c.7446C>T	c.(7444-7446)ctC>ctT	p.L2482L	ZFHX4_uc003yaw.1_Silent_p.L2437L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2437						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGACGTCTCTCCAGAACAGTC	0.512000										HNSCC(33;0.089)				64			36		0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46202122	46202122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:46202122C>T	uc010xxr.2	+	4	1071	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	QPCTL_uc010ekn.3_Missense_Mutation_p.R190C	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	284					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCACTTCCCTCGCACGGTCCG	0.622000														119			26		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6908754	6908754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6908754G>A	uc002mfw.3	+	9	1131	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	EMR1_uc010dvc.3_Missense_Mutation_p.E365K|EMR1_uc010dvb.3_Missense_Mutation_p.E313K|EMR1_uc010xji.2_Missense_Mutation_p.E224K|EMR1_uc010xjj.2_Missense_Mutation_p.E188K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	365	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAAAGTGTGTGAAAATAAAAC	0.383000														28			35		0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209302275	209302276	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:209302275_209302276CC>AT	uc010zjb.2	+	2	511_512	c.225_226CC>AT	c.(223-228)ttccct>ttATct	p.75_76FP>LS	PTH2R_uc002vdb.3_Missense_Mutation_p.64_65FP>LS	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	64						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTAATTGTTTCCCTGAATGGGA	0.337000														44			17		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895485	45895485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45895485G>A	uc002pbn.3	-	7	1545	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	PPP1R13L_uc002pbm.3_Missense_Mutation_p.P69S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P490S	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	490	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCCTCGTGGGGCTGAGAGGC	0.672000														22			12		0	0	1	0	0
SLURP1	57152	broad.mit.edu	37	8	143823794	143823794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143823794G>A	uc003ywy.3	-	0	36	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C		NM_020427	NP_065160	P55000	SLUR1_HUMAN	Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA.	4					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCCAGCGAGAGGCCATT	0.642000														43			27		0	0	1	0	0
MIR182	406958	broad.mit.edu	37	7	129410252	129410252	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:129410252G>A	uc011kpb.1	-	0		c.81C>T								Homo sapiens microRNA 182 (MIR182), microRNA.																		CCCATAGTTGGCAAGTCTAGA	0.632000														63			19		0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890581	15890581	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:15890581C>T	uc001aws.3	+	9	1616	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	DNAJC16_uc001awr.1_Missense_Mutation_p.P499L|DNAJC16_uc001awt.3_Missense_Mutation_p.P187L|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	499					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAGTGCTTCCTGACCTGACC	0.552000														169			68		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7656819	7656819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7656819C>T	uc001mfj.4	+	13	1619	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	PPFIBP2_uc010rbb.1_Missense_Mutation_p.P334S|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.P334S|PPFIBP2_uc010rbd.1_Missense_Mutation_p.P253S|PPFIBP2_uc010rbe.2_Missense_Mutation_p.P299S|PPFIBP2_uc001mfl.4_Missense_Mutation_p.P268S|PPFIBP2_uc009yfj.1_Missense_Mutation_p.P55S	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	411					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGTGTTAGAACCCAAGGTACA	0.398000														42			20		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559343	7559343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7559343C>T	uc010sge.2	-	4	928	c.902G>A	c.(901-903)tGg>tAg	p.W301*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.W291*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	291	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCATTGTTCCACTTATGGTG	0.502000														115			57		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74876915	74876915	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:74876915C>T	uc001owb.3	+	3	764	c.369C>T	c.(367-369)atC>atT	p.I123I	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Silent_p.I7I|SLCO2B1_uc001owc.3_Silent_p.I7I|SLCO2B1_uc001owd.3_Silent_p.I101I	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	123					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ATGGGGCTATCCTTGTGGCCC	0.592000														112			57		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794085	14794085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:14794085C>T	uc001rcd.3	-	17	2136	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	667	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCGATGATCCCATAGCTGTAC	0.483000														61			41		0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41483316	41483316	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:41483316G>A	uc009vwg.1	-	3	1332	c.948C>T	c.(946-948)gtC>gtT	p.V316V	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_Silent_p.V316V|SLFNL1_uc001cgn.2_Silent_p.V257V|SLFNL1_uc001cgm.2_Silent_p.V316V	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	316							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCTTGAGGGGGACGCTGGTCT	0.597000														105			33		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40884017	40884017	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:40884017C>T	uc002onm.4	+	12	1808	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	PLD3_uc002onj.4_Silent_p.S470S|PLD3_uc002onn.3_Silent_p.S470S	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	470					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			ACTGGGACTCCCCTTACAGCC	0.672000														166			46		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975654	118975654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:118975654C>T	uc003ibx.3	+	1	992	c.589C>T	c.(589-591)Cct>Tct	p.P197S	NDST3_uc011cgf.1_Missense_Mutation_p.P197S|NDST3_uc003ibw.3_Missense_Mutation_p.P197S	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	197	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TTGTATTAATCCTCATTCTCC	0.358000														87			46		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310292	56310292	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:56310292A>C	uc010rjl.2	-	0	442	c.442T>G	c.(442-444)Tat>Gat	p.Y148D	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CCATAGACATAGGGAAATGTG	0.522000														18			10		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131337034	131337034	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:131337034C>T	uc004bvl.4	+	3	586	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SPTAN1_uc011mbg.2_Silent_p.A148A|SPTAN1_uc011mbh.2_Silent_p.A160A|SPTAN1_uc004bvm.4_Silent_p.A148A|SPTAN1_uc004bvn.4_Silent_p.A148A	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	148					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGCAGGCCCAGAAGTTGG	0.463000														21			45		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99152404	99152404	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:99152404C>T	uc003yij.4	+	9	1561	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	POP1_uc011lgv.2_Silent_p.F487F|POP1_uc003yik.3_Silent_p.F487F|TRNA_Und_uc022aza.1_5'Flank	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	487					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGCCATTTTCGAGTTGTTGG	0.512000														23			16		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52381849	52381849	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52381849G>A	uc011bef.2	+	11	2226	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K	DNAH1_uc003ddt.1_Silent_p.K655K	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	655	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCCCGGAAGAATCCCCTGT	0.607000														7			4		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	870936	870936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:870936C>T	uc002wei.3	-	1	488	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ANGPT4_uc010zpn.2_Missense_Mutation_p.A123T	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	129					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGCATGGGGGCCGTCTGATTC	0.602000														48			30		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805234	20805234	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:20805234A>T	uc009yid.3	+	3	430	c.277A>T	c.(277-279)Aga>Tga	p.R93*	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Nonsense_Mutation_p.R65*|NELL1_uc001mqf.3_Nonsense_Mutation_p.R65*|NELL1_uc010rdo.2_Nonsense_Mutation_p.R65*	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	65	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGACATAGAAAGAGAGATCCA	0.448000														23			10		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371148	240371148	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:240371148C>T	uc010pye.2	+	5	3273	c.3048C>T	c.(3046-3048)ccC>ccT	p.P1016P	FMN2_uc010pyd.2_Silent_p.P1012P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1012	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCCTCCCCCTCTTCCCG	0.741000														96			19		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81701764	81701764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:81701764C>T	uc001kbh.3	-	4	539	c.496G>A	c.(496-498)Gga>Aga	p.G166R		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	166	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCTCGCTCTCCCTTAGGGCCT	0.612000														70			34		0	0	1	0	0
VPS41	27072	broad.mit.edu	37	7	38857430	38857430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:38857430G>A	uc003tgy.3	-	6	463	c.437C>T	c.(436-438)aCc>aTc	p.T146I	VPS41_uc003tgz.3_Missense_Mutation_p.T121I|VPS41_uc010kxn.3_Missense_Mutation_p.T146I	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	146			T -> P (in dbSNP:rs35693565).		Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTCCCTCCGGTCACAAACTG	0.438000														96			52		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897037	175897037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:175897037G>A	uc003iuc.3	+	4	1031	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	ADAM29_uc003iud.3_Missense_Mutation_p.G121R|ADAM29_uc010irr.3_Missense_Mutation_p.G121R|ADAM29_uc011cki.2_Missense_Mutation_p.G121R|ADAM29_uc021xuo.1_Missense_Mutation_p.G121R	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	121					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TACCTGTTTTGGGGGTTTTCA	0.428000														50			22		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552989	106552989	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:106552989C>T	uc003prd.2	+	4	1188	c.954C>T	c.(952-954)atC>atT	p.I318I	PRDM1_uc003pre.3_Silent_p.I184I	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	318					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTACGGGATCGAGAGACCCA	0.607000			"""D, N, Mis, F, S"""		DLBCL									93			44		0	0	1	0	0
SLC35E4	339665	broad.mit.edu	37	22	31042818	31042818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:31042818C>T	uc003ais.1	+	1	1498	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	285	Leu-rich.					integral to membrane		p.H285N(2)|p.H285H(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTCACCGTCCACGTCCTGGG	0.637000														90			39		0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053241	50053241	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:50053241A>G	uc004dox.4	+	5	2370	c.2072A>G	c.(2071-2073)cAg>cGg	p.Q691R	CCNB3_uc004doy.3_Missense_Mutation_p.Q691R|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	691					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCCCTCTTCCAGGAGGCTTTG	0.463000														3			3		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3806092	3806092	+	Missense_Mutation	SNP	C	T	T	rs143641818		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:3806092C>T	uc010sen.1	-	3	646	c.74G>A	c.(73-75)gGg>gAg	p.G25E	EFCAB4B_uc001qmj.2_Missense_Mutation_p.G25E	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	25					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCTCCACTCCCCTTTGGCCC	0.602000														30			18		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106053529	106053529	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106053529C>T	uc001yrt.3	-	3	817	c.786G>A	c.(784-786)caG>caA	p.Q262Q	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGGGCAGCTCCTGTGACCCCT	0.662000														51			20		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240255646	240255646	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:240255646G>A	uc010pye.2	+	0	462	c.237G>A	c.(235-237)cgG>cgA	p.R79R	FMN2_uc010pyd.2_Silent_p.R79R	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	79					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.R222R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCAACCTGCGGATCAGGAAGA	0.662000														14			15		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26432342	26432342	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:26432342C>T	uc003grx.2	+	11	1452	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	RBPJ_uc003gry.2_Missense_Mutation_p.P391S|RBPJ_uc003grz.2_Missense_Mutation_p.P406S|RBPJ_uc003gsa.2_Missense_Mutation_p.P392S|RBPJ_uc003gsb.2_Missense_Mutation_p.P393S	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	406	IPT/TIG.				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTGTGTCGTCCCAGACATTTC	0.423000														62			15		0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59824980	59824980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:59824980G>A	uc021ulb.1	-	1	315	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	PIGN_uc021ulc.1_5'UTR|PIGN_uc021uld.1_5'UTR	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	95					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				TGACCTGGCCGAGATTCTGTT	0.383000														17			11		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242664416	242664416	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:242664416G>A	uc002wcd.3	+	7	718	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	231					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCTGTCCACGGTGTGTCCAGG	0.592000														51			19		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073770	90073770	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:90073770G>A	uc003kju.3	+	61	12672	c.12576G>A	c.(12574-12576)agG>agA	p.R4192R	GPR98_uc003kjt.3_Silent_p.R1898R	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4192					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTCTGGAGGATATTCCCTC	0.423000														11			13		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447196	17447196	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:17447196T>C	uc003wxr.3	+	2	720	c.275T>C	c.(274-276)gTa>gCa	p.V92A		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	92	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GGGCAAACTGTAGAGCTTCGA	0.483000														81			31		0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175843197	175843197	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:175843197C>T	uc003meh.3	-	0	344	c.168G>A	c.(166-168)caG>caA	p.Q56Q	CLTB_uc003mei.3_Silent_p.Q56Q|CLTB_uc011dfn.2_Non-coding_Transcript	NM_007097	NP_009028	P09497	CLCB_HUMAN	Homo sapiens clathrin, light chain B (CLTB), transcript variant 2, mRNA.	56					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		TGGGGCCCGGCTGCGCGGGGG	0.761000														7			6		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156741360	156741360	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:156741360G>A	uc021ygm.1	+	11	1254	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	CYFIP2_uc011ddn.2_Silent_p.T347T|CYFIP2_uc011ddo.2_Silent_p.T177T|CYFIP2_uc021ygn.1_Silent_p.T372T|CYFIP2_uc021ygo.1_Silent_p.T372T|CYFIP2_uc003lwt.3_Silent_p.T251T|CYFIP2_uc011ddp.2_Silent_p.T107T	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	373					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGGTGACGGGCTCAGGGC	0.552000														72			9		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:11648245G>A	uc002gne.3	+	30	6311	c.6243G>A	c.(6241-6243)aaG>aaA	p.K2081K	DNAH9_uc010coo.3_Silent_p.K1375K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2081					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K2081N(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCCCCAAGATTGTGACTG	0.597000														21			16		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514505	79514505	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:79514505A>G	uc002kaq.3	-	4	1676	c.1603T>C	c.(1603-1605)Ttc>Ctc	p.F535L	C17orf70_uc002kao.1_Missense_Mutation_p.F184L|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.F384L	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	535					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGCTGAAGCTGCTGCTG	0.647000														101			82		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:19786147G>A	uc003zoa.2	-	0	871	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_uc003zob.2_Nonsense_Mutation_p.R240*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398000														51			33		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373837	126373837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:126373837C>T	uc003ifj.4	+	8	11666	c.11666C>T	c.(11665-11667)cCa>cTa	p.P3889L	FAT4_uc011cgp.2_Missense_Mutation_p.P2187L|FAT4_uc003ifi.1_Missense_Mutation_p.P1367L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3889	EGF-like 2; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAGCTGCCCAGATGGCTTC	0.483000														26			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584835	179584835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179584835G>A	uc021vsy.1	-	77	20027	c.19802C>T	c.(19801-19803)tCa>tTa	p.S6601L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3262L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7528	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V6601A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAATGAATGAAATCCTGGT	0.428000														70			22		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739327	38739327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38739327C>T	uc003ciq.3	-	26	5384	c.5384G>A	c.(5383-5385)gGa>gAa	p.G1795E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1795					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GATCTTATCTCCAGGGACCAA	0.483000														44			26		0	0	1	0	0
DAD1	1603	broad.mit.edu	37	14	23058021	23058021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23058021C>T	uc001wgl.2	-	0	123	c.43G>A	c.(43-45)Gag>Aag	p.E15K		NM_001344	NP_001335	P61803	DAD1_HUMAN	Homo sapiens defender against cell death 1 (DAD1), mRNA.	15					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		CTCAAGTACTCTTCTAAGAAC	0.572000														61			7		0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120924358	120924358	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:120924358C>T	uc001pxo.3	+	3	577	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TBCEL_uc009zay.3_Silent_p.S124S|TBCEL_uc001pxp.3_5'UTR|TBCEL_uc001pxq.3_Intron	NM_152715	NP_689928	Q5QJ74	TBCEL_HUMAN	Homo sapiens tubulin folding cofactor E-like (TBCEL), transcript variant 1, mRNA.	124						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTGCTGGGTCCTTCTCTGGGG	0.453000														48			23		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55964805	55964805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:55964805C>T	uc002adg.3	-	10	1927	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	PRTG_uc002adh.3_Missense_Mutation_p.E129K	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	627	Fibronectin type-III 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTCAGAGGCTCCAAATGCAAC	0.438000														21			12		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011056	5011056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5011056C>T	uc001lzv.3	+	1	296	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	93					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCTCCATCTCGCCAGGAAGA	0.517000														39			21		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785460	111785460	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111785460G>A	uc001tsa.2	+	21	3946	c.3792G>A	c.(3790-3792)gaG>gaA	p.E1264E		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTGACTCTGAGACTGAGGACC	0.632000														58			35		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027273	37027273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37027273G>A	uc004ddl.2	+	0	842	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCGAGACTGGAGT	0.612000														18			49		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50129841	50129841	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:50129841T>G	uc003jon.4	+	24	2518	c.2336T>G	c.(2335-2337)tTc>tGc	p.F779C	PARP8_uc011cpz.2_Missense_Mutation_p.F671C|PARP8_uc003joo.3_Missense_Mutation_p.F779C|PARP8_uc003jop.3_Missense_Mutation_p.F737C	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	779	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATCCCAATTCCTGCAAAGC	0.318000														32			43		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22078907	22078907	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:22078907G>A	uc001rfh.3	-	2	395	c.375C>T	c.(373-375)atC>atT	p.I125I	ABCC9_uc001rfi.1_Silent_p.I125I|ABCC9_uc001rfk.3_Silent_p.I125I|ABCC9_uc001rfl.1_Silent_p.I125I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	125					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.I125I(4)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATGTTTCGATATTATGAT	0.383000														47			25		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848304	54848304	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54848304G>A	uc002qfj.3	-	5	1120	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	LILRA4_uc002qfi.3_Silent_p.L289L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	355	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCTTGGTCAGAAGGAAAGTG	0.587000														99			56		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711387	15711387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:15711387C>T	uc002ddr.3	-	13	2933	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	KIAA0430_uc002ddq.3_Missense_Mutation_p.G743E|KIAA0430_uc010uzv.2_Missense_Mutation_p.G906E|KIAA0430_uc010uzw.2_Missense_Mutation_p.G909E	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	908						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CAACTTGTGTCCAAACCTAAA	0.408000														30			13		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507376	51507376	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:51507376C>T	uc001zyz.4	-	8	1163	c.912G>A	c.(910-912)ctG>ctA	p.L304L	CYP19A1_uc001zza.4_Silent_p.L304L|CYP19A1_uc001zzb.2_Silent_p.L304L	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	304					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GAGCTGCGATCAGCATTTCCA	0.398000														68			35		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19498649	19498649	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19498649G>A	uc002dgc.4	+	17	3322	c.2573_splice	c.e17+1	p.R858_splice	TMC5_uc010vaq.2_Splice_Site_p.R806_splice|TMC5_uc002dgb.4_Splice_Site_p.R858_splice|TMC5_uc010var.2_Splice_Site_p.R858_splice|TMC5_uc002dgd.1_Splice_Site_p.R612_splice|TMC5_uc002dge.4_Splice_Site_p.R612_splice|TMC5_uc002dgf.4_Splice_Site_p.R541_splice|TMC5_uc002dgg.4_Splice_Site_p.R499_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	858						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCATCTGGAGGTAGGAGAAGG	0.512000														48			13		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520782	64520782	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:64520782T>A	uc003jtp.3	-	16	2974	c.2160A>T	c.(2158-2160)gaA>gaT	p.E720D	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.E341D	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	720	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TGAAGAACCCTTCAATGGCAT	0.498000														18			13		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97058526	97058526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:97058526G>A	uc003pos.2	+	5	999	c.583G>A	c.(583-585)Gat>Aat	p.D195N	FHL5_uc003pot.2_Missense_Mutation_p.D195N	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	195	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CTGTAGGAAAGATCTCTGTGA	0.448000														146			55		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95566440	95566440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:95566440G>A	uc001tdp.4	-	2	2746	c.2522C>T	c.(2521-2523)tCt>tTt	p.S841F	FGD6_uc009zsx.3_5'UTR	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	841					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCTTCATCAGAACTGTTGAT	0.453000														88			54		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128410902	128410902	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:128410902C>T	uc003qbk.3	-	7	1765	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	PTPRK_uc010kfc.3_Silent_p.K466K|PTPRK_uc003qbj.3_Silent_p.K466K|PTPRK_uc011ebu.2_Silent_p.K466K|PTPRK_uc003qbl.1_Silent_p.K336K|PTPRK_uc011ebv.1_Silent_p.K466K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	466	Fibronectin type-III 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTAGGATCATCTTGAGGCTGA	0.463000														156			64		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54429251	54429251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:54429251C>T	uc003jpo.2	-	5	863	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	CDC20B_uc003jpn.2_Missense_Mutation_p.R229Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R229Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R229Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	229								p.R229*(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTAGTCATTTCGAAGACCAGT	0.343000														54			11		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202538	56202538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:56202538C>T	uc002lhj.4	-	4	5095	c.4881G>A	c.(4879-4881)atG>atA	p.M1627I	ALPK2_uc002lhk.1_Missense_Mutation_p.M958I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1627							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGGTTCCTCCATTTTGTGGC	0.458000														44			20		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204626	128204626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:128204626C>T	uc003ekm.3	-	3	1250	c.815G>A	c.(814-816)gGg>gAg	p.G272E	GATA2_uc003ekn.3_Missense_Mutation_p.G272E|GATA2_uc003eko.2_Missense_Mutation_p.G272E	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	272					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCCGGTCCCCCCAGGAAGCC	0.642000			Mis		AML(CML blast transformation)									29			15		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504474	47504474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:47504474G>A	uc001wwj.4	-	7	1717	c.1559C>T	c.(1558-1560)tCa>tTa	p.S520L	MDGA2_uc001wwi.4_Missense_Mutation_p.S222L|MDGA2_uc010ani.3_Missense_Mutation_p.S11L	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	451	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCAATGGTGATTTTTCCTG	0.378000														33			32		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57584759	57584759	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57584759C>T	uc001snd.3	+	42	7669	c.7203C>T	c.(7201-7203)atC>atT	p.I2401I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2401					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGACAAGATCGAGCGGTGCG	0.642000														42			16		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171607853	171607853	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171607853C>T	uc001ghu.3	-	1	636	c.614G>A	c.(613-615)tGg>tAg	p.W205*	MYOC_uc010pmk.2_Nonsense_Mutation_p.W147*	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	205					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTCCAAATTCCACGTAGAAAC	0.428000														98			37		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22780106	22780106	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:22780106G>A	uc002nqu.4	+	1		c.184G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		ATCAGTGGAGGAACAGCCCTG	0.433000														32			37		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88917887	88917887	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:88917887T>C	uc001kei.4	+	3	1722	c.1608T>C	c.(1606-1608)agT>agC	p.S536S	FAM35A_uc001kej.4_5'UTR	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	536										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATCTTGGGAGTTATTCATCTA	0.328000														19			9		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622465	202622465	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:202622465T>C	uc002uyo.3	-	4	1487	c.1131A>G	c.(1129-1131)gcA>gcG	p.A377A	ALS2_uc002uyp.4_Silent_p.A377A|ALS2_uc002uyq.3_Silent_p.A377A	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	377					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GATTAGGAATTGCTTCTTCTA	0.398000														47			23		0	0	1	0	0
ST7	7982	broad.mit.edu	37	7	116810933	116810933	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:116810933C>T	uc003vin.3	+	9	1195	c.981C>T	c.(979-981)ccC>ccT	p.P327P	ST7_uc011knl.2_Silent_p.P304P|ST7_uc003vio.3_Silent_p.P304P|ST7_uc003viq.3_Silent_p.P281P|ST7_uc011knm.2_Silent_p.P284P|ST7_uc003vir.3_Silent_p.P252P|ST7_uc003vix.1_Silent_p.P140P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	327						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGGAGTTCCCCCTTCTGAGTA	0.318000														51			47		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46308785	46308785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:46308785C>T	uc002zgd.2	-	12	1947	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	ITGB2_uc002zgf.3_Missense_Mutation_p.E635K|ITGB2_uc011afl.1_Missense_Mutation_p.E557K|ITGB2_uc010gpw.2_Missense_Mutation_p.E578K|ITGB2_uc002zgg.2_Missense_Mutation_p.E635K	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	635					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGCCCTTTTCGAACTTCAGG	0.672000														30			10		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561572	9561572	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9561572G>A	uc002wnl.2	-	4	755	c.210C>T	c.(208-210)atC>atT	p.I70I	PAK7_uc002wnk.2_Silent_p.I70I|PAK7_uc002wnj.2_Silent_p.I70I|PAK7_uc010gby.1_Silent_p.I70I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	70	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCCTCTAACGATTGTCTGGG	0.418000														117			65		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029407	79029408	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79029407_79029408CC>AT	uc003kgc.3	+	1	4891_4892	c.4819_4820CC>AT	c.(4819-4821)cca>ATa	p.P1607I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1607						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGGAGACTTCCCATCAGAAAAA	0.455000														50			56		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043818	20043818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20043818C>T	uc002dgu.1	-	1	463	c.301G>A	c.(301-303)Gac>Aac	p.D101N	GPR139_uc010vaw.1_Missense_Mutation_p.D8N	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	101						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						ATGATCTTGTCGGGGACCTGA	0.483000														30			16		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044089	2044089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:2044089G>A	uc003wpx.4	+	17	2266	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	MYOM2_uc011kwi.2_Missense_Mutation_p.V135I	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	710					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCTTGCAGCCGTCCCGTCCCA	0.617000														134			118		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190868	48190868	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:48190868C>T	uc002lev.3	+	1	1540	c.540C>T	c.(538-540)tcC>tcT	p.S180S	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Silent_p.S180S	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	180	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCATTACTCCCACAAGGTAT	0.517000														111			48		0	0	1	0	0
SFTA2	389376	broad.mit.edu	37	6	30899508	30899508	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:30899508G>A	uc003nsf.3	-	1	205	c.126C>T	c.(124-126)tcC>tcT	p.S42S		NM_205854	NP_995326	Q6UW10	SFTA2_HUMAN	Homo sapiens surfactant associated 2 (SFTA2), mRNA.	42						extracellular region				lung(2)	2						CCAGGAAGCTGGACTCATAGG	0.502000														68			37		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113832845C>T	uc002tiu.3	+	4	438	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_uc002tiv.3_Silent_p.F121F|IL1F10_uc002tiw.3_Silent_p.F113F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000														93			45		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814214	3814214	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:3814214G>A	uc002kmf.3	-	4	1544	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	DLGAP1_uc010wyz.2_Silent_p.C339C|DLGAP1_uc010dkn.3_Silent_p.C37C|DLGAP1_uc002kme.2_Silent_p.C37C|DLGAP1_uc010wyw.2_Silent_p.C45C|DLGAP1_uc010wyx.2_Silent_p.C51C|DLGAP1_uc010wyy.2_Silent_p.C51C|DLGAP1_uc002kmg.3_Silent_p.C37C|DLGAP1_uc002kmk.2_Silent_p.C339C	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	339					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCATTCTTCGGCATGGAATTT	0.453000														122			53		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948673	200948673	+	Missense_Mutation	SNP	G	A	A	rs148681629		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:200948673G>A	uc001gvs.2	-	29	4467	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	KIF21B_uc009wzl.2_Missense_Mutation_p.R1384W|KIF21B_uc001gvr.2_Missense_Mutation_p.R1371W|KIF21B_uc010ppn.2_Missense_Mutation_p.R1371W	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1384					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTGAGAGTCCGAATGCACTTG	0.597000														88			81		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129670503	129670503	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:129670503G>A	uc021zfb.1	+	30	4602	c.4497G>A	c.(4495-4497)cgG>cgA	p.R1499R	LAMA2_uc003qbn.3_Silent_p.R1499R|LAMA2_uc003qbo.3_Silent_p.R1499R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1499	Laminin EGF-like 16.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R1499L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGTCCACGGGGATATGAAG	0.443000														104			45		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78426765	78426765	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:78426765G>A	uc003kfu.4	+	7	1152	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	BHMT_uc011cti.2_Silent_p.K196K	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	349					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGGCCAGGAAGGAATACTGGG	0.463000														105			63		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60578222	60578222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:60578222G>A	uc002ybs.3	-	8	2480	c.2480C>T	c.(2479-2481)tCg>tTg	p.S827L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	827					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TTACCGAAACGAACCTCCCCC	0.572000														48			29		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851436	61851436	+	Silent	SNP	G	A	A	rs140336916	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:61851436G>A	uc002eog.2	-	6	2179	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	CDH8_uc002eoh.3_Silent_p.S177S	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	408	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCCCAATCACGGAGTTTAGAG	0.443000														35			26		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187506153	187506153	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187506153C>T	uc002upq.3	+	11	1273	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	ITGAV_uc010frs.3_Missense_Mutation_p.R297C|ITGAV_uc010zfv.2_Missense_Mutation_p.R287C	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	333					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTTCATGGATCGTGGCTCTGA	0.448000														89			46		0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6882409	6882409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6882409G>A	uc001qqt.4	+	1	459	c.110G>A	c.(109-111)gGg>gAg	p.G37E	LAG3_uc001qqs.3_Missense_Mutation_p.G37E|LAG3_uc001qqu.3_5'UTR	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	37	Ig-like V-type.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCAGGAGGGGGCTCCTGCC	0.657000														52			27		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611179	62611179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:62611179C>T	uc003peg.2	-	4	828	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TATTCTGATCCCTCTGCCTCT	0.413000														79			47		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74611020	74611020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74611020C>T	uc002lmi.3	+	10	1928	c.1730C>T	c.(1729-1731)aCc>aTc	p.T577I	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	577					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R576*(1)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAATTTCGAACCTCAGGCCAT	0.388000														76			34		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892806	88892806	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:88892806A>G	uc001xwq.3	+	5	1024	c.603A>G	c.(601-603)agA>agG	p.R201R	SPATA7_uc001xwr.3_Silent_p.R169R|SPATA7_uc001xws.3_Silent_p.R137R|SPATA7_uc001xwt.3_Silent_p.R95R|SPATA7_uc001xwu.3_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	201					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TGTATGGCAGAAGGCCCAGAA	0.507000														38			34		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1808278	1808278	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:1808278C>A	uc002ltw.3	-	4	693	c.459G>T	c.(457-459)ctG>ctT	p.L153L	ATP8B3_uc002ltv.3_Silent_p.L100L|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_5'Flank|ATP8B3_uc002ltz.1_Silent_p.L100L	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	153					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		actgctcgtacaggttcagcg	0.597000														24			25		8.88839e-20	9.04476e-20	1	1	0
PSG4	5672	broad.mit.edu	37	19	43411959	43411959	+	Missense_Mutation	SNP	C	T	T	rs146009558		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:43411959C>T	uc002ovj.1	-	3	853	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E92K|PSG4_uc002ovg.1_Missense_Mutation_p.E252K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R252H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TCCTTCTTCTCCCTGGGGTTT	0.507000														215			59		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74475573	74475573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74475573G>A	uc002sko.1	-	12	1696	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.S565F|SLC4A5_uc010ffc.1_Missense_Mutation_p.S565F|SLC4A5_uc002skp.1_Missense_Mutation_p.S501F|SLC4A5_uc002sks.1_Missense_Mutation_p.S565F	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	565						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGAACAAGGAGCCAGCCAT	0.567000														29			15		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27290974	27290974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:27290974C>T	uc003xfn.2	+	15	1818	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	PTK2B_uc022ate.1_Missense_Mutation_p.S337F|PTK2B_uc003xfp.2_Missense_Mutation_p.S337F|PTK2B_uc003xfq.2_Missense_Mutation_p.S337F|PTK2B_uc010luq.1_Missense_Mutation_p.S108F|PTK2B_uc003xfr.1_Missense_Mutation_p.S83F	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	337	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAAACCTCATCCCTAGCAGAG	0.592000														69			41		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62845330	62845330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:62845330G>A	uc010ihh.3	+	14	2824	c.2651G>A	c.(2650-2652)gGa>gAa	p.G884E	LPHN3_uc003hcq.4_Missense_Mutation_p.G884E|LPHN3_uc003hct.3_Missense_Mutation_p.G277E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	871					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACGTGGGTTGGAATTTTGCTG	0.468000														208			65		0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45855602	45855602	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45855602G>A	uc002pbj.2	-	21	2102	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	ERCC2_uc002pbh.2_Silent_p.A248A|ERCC2_uc002pbi.2_Silent_p.A378A|ERCC2_uc010ejz.2_Silent_p.A607A|ERCC2_uc002pbk.2_Silent_p.A661A	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	685					UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGTCCCCACGGGCAAACCGCT	0.647000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					60			22		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2729610	2729610	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:2729610G>A	uc003zho.2	+	1	1735	c.1521G>A	c.(1519-1521)gaG>gaA	p.E507E		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	507						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AGGCTTATGAGTATACCACCA	0.483000														67			23		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61554129	61554129	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:61554129C>T	uc010oos.2	+	2	553	c.471C>T	c.(469-471)ggC>ggT	p.G157G	NFIA_uc001czy.3_Silent_p.G104G|NFIA_uc001czw.3_Silent_p.G112G|NFIA_uc001czv.3_Silent_p.G112G	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	112					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S157C(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCAGAAAGGCAAGATGCGAA	0.448000														106			52		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85962834	85962834	+	Silent	SNP	C	T	T	rs141693979		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:85962834C>T	uc001kcv.3	+	7	843	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CDHR1_uc001kcw.3_Silent_p.F246F|CDHR1_uc009xst.3_Silent_p.F5F	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	246	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCCTGTCTTCGTGGGCACAC	0.612000														78			35		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84697540	84697540	+	Missense_Mutation	SNP	C	T	T	rs148351346	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:84697540C>T	uc003uic.3	-	4	596	c.556G>A	c.(556-558)Gat>Aat	p.D186N	SEMA3D_uc010led.3_Missense_Mutation_p.D186N|SEMA3D_uc010lee.1_Missense_Mutation_p.D186N	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	186	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCTGAGGATCGAAAGGACAT	0.343000														61			58		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489957	237489957	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237489957C>T	uc021vys.1	+	0	849	c.849C>T	c.(847-849)atC>atT	p.I283I	CXCR7_uc010fyq.3_Silent_p.I283I|CXCR7_uc002vwd.3_Silent_p.I283I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	283					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		TGCACTACATCCCTTTCACCT	0.602000														139			58		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94066598	94066598	+	Silent	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:94066598T>A	uc003poe.3	-	4	1402	c.1161A>T	c.(1159-1161)ggA>ggT	p.G387G	EPHA7_uc003pof.3_Silent_p.G387G|EPHA7_uc011eac.2_Silent_p.G387G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	387	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGGCATGTATCCAATGTTAC	0.473000														30			20		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926759	147926759	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:147926759A>G	uc003weu.2	+	19	3785	c.3269A>G	c.(3268-3270)aAc>aGc	p.N1090S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1090	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTCGATACAACCTGGGTGGC	0.458000										HNSCC(39;0.1)				47			36		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32894359	32894359	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:32894359A>G	uc003amq.3	+	8	1694	c.1411A>G	c.(1411-1413)Acg>Gcg	p.T471A	FBXO7_uc003amt.3_Missense_Mutation_p.T392A|FBXO7_uc003amu.3_Missense_Mutation_p.T357A|FBXO7_uc003amv.3_Missense_Mutation_p.T170A	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	471					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTGGGGAGACGCCCAGCCA	0.567000														104			30		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56324981	56324981	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:56324981C>T	uc003pcy.4	-	82	15309	c.15201G>A	c.(15199-15201)gaG>gaA	p.E5067E	DST_uc003pcv.4_Silent_p.E189E|DST_uc003pcw.4_Silent_p.E150E|DST_uc003pcx.4_Silent_p.E113E	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7466					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCCACTGTCCTCCCCAGAGT	0.468000														26			18		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31604173	31604173	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:31604173A>G	uc001wrc.1	-	21	3972	c.3483T>C	c.(3481-3483)tcT>tcC	p.S1161S	HECTD1_uc001wrd.1_Silent_p.S676S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTCTCAGTGCAGACCTTCCAT	0.443000														42			55		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320170	247320170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:247320170G>A	uc001ick.3	-	3	893	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.H190Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GCCTTTATATGTCCTTGCAAG	0.433000														80			32		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71543097	71543097	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:71543097C>T	uc001xmo.2	+	27	5744	c.5298C>T	c.(5296-5298)taC>taT	p.Y1766Y	PCNX_uc010are.1_Silent_p.Y1655Y|PCNX_uc010arf.1_Silent_p.Y554Y	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1766						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTGTGATTTACCTCAACTGGA	0.408000														58			5		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493622	128493622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:128493622C>T	uc003vnz.4	+	37	6517	c.6308C>T	c.(6307-6309)aCc>aTc	p.T2103I	FLNC_uc003voa.4_Missense_Mutation_p.T2070I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2103					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TACTGCCCCACCGAGCCCGGC	0.582000														86			22		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849971	189849971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:189849971C>T	uc002uqj.1	+	2	448	c.331C>T	c.(331-333)Cca>Tca	p.P111S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	111					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CAAGGGAGATCCAGTAAGTAA	0.338000														57			34		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089355	32089355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:32089355G>A	uc003jhl.3	+	19	6189	c.5801G>A	c.(5800-5802)cGg>cAg	p.R1934Q	PDZD2_uc003jhm.3_Missense_Mutation_p.R1934Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1934					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGTCACAGCGGCTCCATGTA	0.597000														74			14		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008009	6008009	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6008009A>T	uc001mcd.2	-	0	207	c.152T>A	c.(151-153)aTc>aAc	p.I51N		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGGTAAAGGATGCCCAGGGG	0.493000														26			4		0	0	1	0	0
PGAM5	192111	broad.mit.edu	37	12	133294599	133294599	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:133294599C>T	uc009zyv.3	+	4	682	c.612C>T	c.(610-612)atC>atT	p.I204I	PGAM5_uc010tbr.2_Non-coding_Transcript|PGAM5_uc001uku.3_Silent_p.I204I|PGAM5_uc021rgs.1_Silent_p.I203I	NM_001170543	NP_001164014	Q96HS1	PGAM5_HUMAN	Homo sapiens phosphoglycerate mutase family member 5 (PGAM5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	204						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		GAGCCCGGATCGAGGCCGCCT	0.622000														81			31		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521498	64521498	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:64521498T>A	uc010ssp.1	+	19	2590	c.2534T>A	c.(2533-2535)tTa>tAa	p.L845*	SRGAP1_uc001srv.2_Nonsense_Mutation_p.L782*	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	845					axon guidance	cytosol		p.L845I(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GACGGCTATTTAGCCAGGTAA	0.592000														43			25		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93499745	93499745	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:93499745G>A	uc002bsp.3	+	15	2441	c.1866G>A	c.(1864-1866)ttG>ttA	p.L622L	CHD2_uc002bso.1_Silent_p.L622L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	622	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCCATCGGTTGAAGAATGATG	0.453000														72			51		0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227923018	227923019	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:227923018_227923019GG>AA	uc001hrb.3	-	0	94_95	c.94_95CC>TT	c.(94-96)ccg>TTg	p.P32L	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'UTR|SNAP47_uc001hre.3_5'UTR|SNAP47_uc001hrf.2_5'UTR|JMJD4_uc001hrc.3_Missense_Mutation_p.P32L	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	32										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CACTTCCGCCGGAGCGGAAACG	0.718000														13			10		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81633859	81633859	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81633859C>T	uc021ssk.1	-	16	1716	c.1716_splice	c.e16-1	p.W572_splice	TMC3_uc021ssj.1_Splice_Site_p.W572_splice|TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.3_Splice_Site_p.W572_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGCCCCCATCCTGGAACCAT	0.532000														9			5		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171455442	171455442	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:171455442G>A	uc003fhs.3	-	2	515	c.168C>T	c.(166-168)atC>atT	p.I56I	PLD1_uc003fht.3_Silent_p.I56I	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	56					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGAGAAAGGGATATACACTA	0.328000														9			10		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128381868	128381868	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:128381868C>T	uc002top.3	+	28	3995	c.3942C>T	c.(3940-3942)gtC>gtT	p.V1314V	MYO7B_uc002toq.1_Silent_p.V167V|MYO7B_uc002tor.1_Silent_p.V167V	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1314	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCGAGGAGTCTGGTCTGGCG	0.592000														3			9		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981250	7981250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7981250C>T	uc001mfv.1	-	1	1926	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	637							ATP binding	p.E637K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGAAGCTTCCTTTTGTGTT	0.393000														18			7		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27448861	27448862	+	Missense_Mutation	DNP	AG	CT	CT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:27448861_27448862AG>CT	uc002dor.2	+	4	819_820	c.271_272AG>CT	c.(271-273)agg>CTg	p.R91L	IL21R_uc002doq.2_Missense_Mutation_p.R69L|IL21R_uc002dos.2_Missense_Mutation_p.R69L	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	69					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGCCTCCACAGGTCGGCCCAC	0.574000			T	BCL6	NHL									58			40		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101892268	101892268	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101892268C>T	uc003uys.4	+	23	4624	c.4497C>T	c.(4495-4497)atC>atT	p.I1499I	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I1488I	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1488					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACAGCATCATCCACCGCCTGG	0.711000														18			9		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45452002	45452002	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45452002C>T	uc002pah.3	+	4		c.1307C>T			APOC4_uc021uvn.1_Non-coding_Transcript	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		GATGCCTAGCCCGACCTTCCT	0.607000														97			31		0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11020917	11020917	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:11020917C>T	uc002yiu.1	-	9	1688	c.1488_splice	c.e9-1		TPTE_uc002yis.1_Splice_Site|BAGE_uc002yit.1_Splice_Site	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACACACATATCCTGAAGTTAA	0.358000														163			35		0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11964770	11964770	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:11964770C>T	uc010yjm.2	+	21	2834	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	LPIN1_uc010yjn.2_Silent_p.L842L|LPIN1_uc002rbt.3_Silent_p.L842L|LPIN1_uc010yjo.2_Silent_p.L343L	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	842					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATGTGAGACTCTGTGAAGTAG	0.488000														54			20		0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367296	107367296	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:107367296A>T	uc011lvq.2	-	0	613	c.613T>A	c.(613-615)Ttg>Atg	p.L205M		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATATGAACAATGTTGTGGCC	0.398000														58			87		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295862	20295862	+	Silent	SNP	C	T	T	rs139052676	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20295862C>T	uc010tkv.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTGGACTTCCTCTCTGCGA	0.527000														200			72		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515762	149515762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:149515762C>T	uc010lpk.3	+	82	11654	c.11654C>T	c.(11653-11655)tCc>tTc	p.S3885F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3888	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATGGTCCTCCTGGTCCCCC	0.682000														33			6		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47397211	47397211	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47397211G>T	uc001nfb.1	-	1	341	c.118C>A	c.(118-120)Ctc>Atc	p.L40I	SPI1_uc001nfc.1_Missense_Mutation_p.L39I|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.L33I	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	39					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		TCACTGCTGAGATAGGGGTAA	0.602000														117			35		2.75727e-19	2.80288e-19	1	1	0
ADH6	130	broad.mit.edu	37	4	100125397	100125397	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:100125397G>A	uc003huo.2	-	8	1201	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Silent_p.I160I	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	8					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GGATACAGCGGATACTGAAAA	0.323000														41			11		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47778153	47778153	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:47778153C>T	uc002lee.2	-	4	565	c.474_splice	c.e4-1	p.R158_splice		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	158										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCACAGCGTTCCCTGAAAGGA	0.433000														113			52		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119127	72119128	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72119127_72119128GG>AA	uc002atl.4	-	41	7913_7914	c.7440_7441CC>TT	c.(7438-7443)ttcctg>ttTTtg	p.2480_2481FL>FL	MYO9A_uc002atk.3_Silent_p.1275_1276FL>FL	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2480	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTCTTCCAGGAATTTGGTCT	0.441000														84			43		0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32122887	32122887	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32122887A>G	uc003nzw.3	+	2	457	c.282A>G	c.(280-282)caA>caG	p.Q94Q	PRRT1_uc003nzu.3_5'Flank|PRRT1_uc021yvi.1_5'Flank|PRRT1_uc021yvj.1_5'Flank|PRRT1_uc003nzv.3_5'Flank|PRRT1_uc021yvk.1_5'Flank|PPT2_uc003nzx.3_Silent_p.Q88Q|PPT2_uc003nzz.3_Silent_p.Q88Q|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_Silent_p.Q88Q	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	88					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AACAGGTGCAAGGGTTCCGAG	0.617000														66			23		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428965	222428965	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:222428965G>A	uc002vmq.3	-	2	351	c.309C>T	c.(307-309)ttC>ttT	p.F103F	EPHA4_uc002vmr.2_Silent_p.F103F|EPHA4_uc010zlm.1_Silent_p.F44F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	103						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCCTCAAGGTGAATTTAATCT	0.473000														96			38		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735241	43735241	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:43735241C>T	uc003bdt.2	-	2	216	c.89_splice	c.e2-1	p.G30_splice	SCUBE1_uc003bdu.2_Splice_Site_p.G30_splice	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	30					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTCGACTGACCCTGTGGGTAG	0.592000														44			22		0	0	1	0	0
PDCD2	5134	broad.mit.edu	37	6	170892152	170892152	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:170892152C>T	uc003qxw.3	-	2	762	c.651G>A	c.(649-651)ggG>ggA	p.G217G	PDCD2_uc003qxv.3_Silent_p.G184G|PDCD2_uc003qxx.2_Silent_p.G217G|PDCD2_uc003qya.3_Silent_p.G184G|PDCD2_uc003qxy.3_Silent_p.G184G|PDCD2_uc021ziq.1_Silent_p.G217G|PDCD2_uc003qxz.3_Silent_p.G217G|PDCD2_uc003qyb.2_Silent_p.G140G	NM_002598	NP_002589	Q16342	PDCD2_HUMAN	Homo sapiens programmed cell death 2 (PDCD2), transcript variant 1, mRNA.	217					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TACCCATGCTCCCTATAATCT	0.388000														66			36		0	0	1	0	0
EIF2B3	8891	broad.mit.edu	37	1	45316635	45316635	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:45316635G>A	uc001cmt.2	-	11	1553	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	EIF2B3_uc001cmu.2_3'UTR	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa (EIF2B3), transcript variant 1, mRNA.	449					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	p.Q448H(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGATCTCCATGAGCTGGTCAT	0.453000														97			35		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190431	50190431	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:50190431G>A	uc009zlk.2	-	7	1414	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	400	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGCTAAGGAAGGGGAGGGGCC	0.632000														20			11		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649413	7649413	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7649413A>G	uc001qsz.3	-	4	1223	c.1095T>C	c.(1093-1095)tgT>tgC	p.C365C	CD163_uc001qta.3_Silent_p.C365C|CD163_uc009zfw.2_Silent_p.C365C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	365	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACTTACCAGAACATGTCACGC	0.418000														53			25		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087359	207087359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:207087359G>A	uc001hey.3	-	1	297	c.118C>T	c.(118-120)Cct>Tct	p.P40S	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.P40S|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	40	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGCATTTCAGGAAGTGGGCAC	0.522000														146			104		0	0	1	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807510	140807510	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140807510C>T	uc011daz.2	+	0	1658	c.1299C>T	c.(1297-1299)ctC>ctT	p.L433L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		TGGGCGACCTCAATGACAATG	0.672000														29			3		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6480023	6480023	+	Silent	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6480023C>G	uc002mfe.3	-	1	149	c.57G>C	c.(55-57)gcG>gcC	p.A19A	DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Intron	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	19						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CAGGGCAGGCCGCTTCGAAGA	0.617000														5			8		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135613971	135613971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:135613971G>A	uc003yup.3	-	5	2177	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	ZFAT_uc003yun.3_Missense_Mutation_p.S652L|ZFAT_uc003yuo.3_Missense_Mutation_p.S652L|ZFAT_uc010meh.3_Missense_Mutation_p.S652L|ZFAT_uc010mej.3_Missense_Mutation_p.S602L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.S652L|ZFAT_uc003yur.3_Missense_Mutation_p.S652L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCACCAGCTGAAAGCACAGC	0.597000														47			22		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	858822	858822	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:858822C>A	uc002wei.3	-	6	1305	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	ANGPT4_uc010zpn.2_Missense_Mutation_p.S395I	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	401	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCACTGCCCAGGTG	0.627000														23			23		9.04412e-07	9.09654e-07	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120572391	120572391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:120572391G>A	uc001txo.3	-	51	7161	c.7148C>T	c.(7147-7149)cCc>cTc	p.P2383L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2383					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTGAAGAGGGGGTCCACCTT	0.627000														68			52		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39977320	39977320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:39977320C>T	uc010ggh.3	+	3	441	c.350C>T	c.(349-351)cCc>cTc	p.P117L	LPIN3_uc002xjx.3_Missense_Mutation_p.P117L|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	117					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCTGGCTTCCCCTCGGACTCC	0.667000														32			27		0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116836870	116836870	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:116836870G>C	uc003pwy.3	+	1	700	c.648G>C	c.(646-648)aaG>aaC	p.K216N	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	216						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GTTTTTGGAAGACATATGCAC	0.428000														86			47		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48026965	48026965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:48026965G>A	uc003tof.3	-	10	1133	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	SUN3_uc010kyq.3_Nonsense_Mutation_p.R258*|SUN3_uc003tog.3_Nonsense_Mutation_p.R346*|SUN3_uc011kcf.2_Nonsense_Mutation_p.R334*	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	346	SUN.					integral to membrane		p.R346L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTGAATCGATATAAACAA	0.383000														121			61		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354628	45354628	+	Missense_Mutation	SNP	G	A	A	rs143235900		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:45354628G>A	uc002xsl.3	+	1	1050	c.953G>A	c.(952-954)aGc>aAc	p.S318N		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	318						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGCCTCGTCAGCTTTGCCGTG	0.667000														47			32		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113301614	113301614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:113301614C>T	uc003ynu.3	-	56	9287	c.9128G>A	c.(9127-9129)gGa>gAa	p.G3043E	CSMD3_uc003yns.3_Missense_Mutation_p.G2245E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3003E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2874E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3043	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTTGTGATCCACTCCAATG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				96			62		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85724567	85724567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:85724567G>A	uc003hpd.3	-	15	2891	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	828						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAGGTCGGCAACATTTTT	0.418000														56			15		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17496474	17496474	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:17496474G>A	uc001mnc.3	-	1	375	c.249C>T	c.(247-249)ttC>ttT	p.F83F	ABCC8_uc010rcy.1_Silent_p.F83F|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	83					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACACCAGGACGAAGAGCAGCA	0.547000														59			28		0	0	1	0	0
TRBV30	28557	broad.mit.edu	37	7	142510502	142510502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142510502G>A	uc003wbp.2	-	1	216	c.104C>T	c.(103-105)cCg>cTg	p.P35L	TRBV30_uc022aob.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CAGAGAGAGCGGGCTGCCCAC	0.572000														17			9		0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125438106	125438106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:125438106G>A	uc011lzb.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TCAGCAGCTGGAAAACACAAA	0.453000														14			20		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75330535	75330535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:75330535C>T	uc021rwo.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	PROX2_uc001xqp.2_Missense_Mutation_p.M1I|PROX2_uc001xqq.2_Missense_Mutation_p.M1I	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	1					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGTTTGGATCCATCCCAGGCA	0.547000														42			3		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696912	128696912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:128696912C>T	uc003elj.4	-	4	980	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KIAA1257_uc003elg.1_Missense_Mutation_p.E262K|KIAA1257_uc003eli.4_Missense_Mutation_p.E150K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	262										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGTGTTTTTCTGTTTTTTCT	0.463000														56			22		0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15267541	15267542	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:15267541_15267542GG>AA	uc001mlz.3	+	12	1665_1666	c.1554_1555GG>AA	c.(1552-1557)gtggac>gtAAac	p.D519N	INSC_uc001mly.3_Missense_Mutation_p.D566N|INSC_uc001mma.3_3'UTR|INSC_uc010rcs.2_Missense_Mutation_p.D554N|INSC_uc001mmb.3_Missense_Mutation_p.D519N|INSC_uc001mmc.3_Missense_Mutation_p.D477N	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	566					cell differentiation|nervous system development	cytoplasm	binding	p.E518K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTCGGCTGGTGGACTCCTTCTT	0.545000														46			19		0	0	1	0	0
FAM58A	92002	broad.mit.edu	37	X	152860004	152860004	+	Splice_Site	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:152860004C>G	uc011myr.2	-	4	528	c.417_splice	c.e4+1	p.K139_splice	FAM58A_uc011mys.2_Splice_Site_p.K139_splice	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	143					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTATGTACCTTGTGTGGA	0.542000														20			70		0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74718697	74718697	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74718697G>A	uc002slt.2	+	7	797	c.774G>A	c.(772-774)ctG>ctA	p.L258L	TTC31_uc002sls.2_Silent_p.L187L|TTC31_uc002slu.2_Silent_p.L114L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	258							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGGGACTGAACCAGGAGC	0.572000														105			74		0	0	1	0	0
SPANXC	64663	broad.mit.edu	37	X	140335825	140335825	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:140335825T>A	uc004fbk.3	-	1	175	c.119A>T	c.(118-120)aAa>aTa	p.K40I	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	40						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTTCATTTTTTTAGGAGCAGG	0.498000														35			34		0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6964834	6964835	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:6964834_6964835GG>AA	uc001mey.3	+	5	1262_1263	c.674_675GG>AA	c.(673-675)tgg>tAA	p.W225*	ZNF215_uc010raw.2_Missense_Mutation_p.G181K|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Nonsense_Mutation_p.W225*	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	225	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AAAAAAAGATGGATAATGGAGA	0.342000														67			18		0	0	1	0	0
EPT1	85465	broad.mit.edu	37	2	26596326	26596326	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:26596326T>C	uc021veu.1	+	4	549	c.402T>C	c.(400-402)gtT>gtC	p.V134V	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	134					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										GGTCATGTGTTTACTTTGTTG	0.423000														23			11		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791255	95791255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:95791255G>A	uc001kjk.3	+	1	1086	c.452G>A	c.(451-453)gGa>gAa	p.G151E	PLCE1_uc010qnx.2_Missense_Mutation_p.G151E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	151					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GTGTTCCCTGGAATTCAACTG	0.443000														59			34		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336799	336799	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:336799G>A	uc001qic.2	-	7	957	c.867C>T	c.(865-867)tcC>tcT	p.S289S	SLC6A13_uc009zdj.2_Silent_p.S289S|SLC6A13_uc010sdl.2_Silent_p.S197S|SLC6A13_uc010sdm.1_Silent_p.S170S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGATGGCGAAGGAGAAGAATA	0.572000														54			24		0	0	1	0	0
FAM154A	158297	broad.mit.edu	37	9	18941751	18941751	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:18941751A>T	uc003zni.2	-	2	655	c.305T>A	c.(304-306)cTc>cAc	p.L102H	FAM154A_uc010mip.2_Intron	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	102										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATACGTCGTGAGCAAATCCAT	0.478000														111			31		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740103	62740103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:62740103G>A	uc001dah.4	-	2	1050	c.673C>T	c.(673-675)Cca>Tca	p.P225S	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	225	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCAGCTCTGGAATCCGAGTT	0.567000														35			24		0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758905	55758905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55758905C>T	uc010spk.2	+	0	11	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ATGAGAAATTCCACAGCAGTA	0.323000														77			27		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36171241	36171241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:36171241C>T	uc003zzb.4	+	0	1853	c.1742C>T	c.(1741-1743)cCt>cTt	p.P581L		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	581					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCAAGCTACCTTGCAAGATT	0.448000														33			27		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128452	119128453	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:119128452_119128453GG>AA	uc003ecj.4	+	10	2287_2288	c.1755_1756GG>AA	c.(1753-1758)gaggag>gaAAag	p.E586K		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	586					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCACCTGGAGGAGAAGAAAAC	0.554000														22			10		0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50436307	50436307	+	Silent	SNP	C	T	T	rs141235467		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50436307C>T	uc010enq.2	+	3	1389	c.807C>T	c.(805-807)atC>atT	p.I269I	ATF5_uc002prd.3_Silent_p.I269I|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	269					regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.I269I(2)		NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		ACCTGCTCATCGAGGTTTACA	0.642000														14			25		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080487	54080487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54080487C>T	uc002qbx.1	+	6	2107	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	ZNF331_uc002qby.1_Missense_Mutation_p.R225W|ZNF331_uc002qbz.1_Missense_Mutation_p.R225W|ZNF331_uc010eqr.1_Missense_Mutation_p.R225W|ZNF331_uc002qca.1_Missense_Mutation_p.R225W|ZNF331_uc021uzg.1_Missense_Mutation_p.R225W|ZNF331_uc021uzh.1_Missense_Mutation_p.R225W|ZNF331_uc002qcb.1_Missense_Mutation_p.R225W|ZNF331_uc002qcc.1_Missense_Mutation_p.R225W|ZNF331_uc002qcd.1_Missense_Mutation_p.R225W	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAAGGCCTTTCGGCGTGGTGA	0.473000			T	?	follicular thyroid adenoma									45			19		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070966	153070966	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153070966C>T	uc004fja.1	-	5	913	c.663G>A	c.(661-663)gaG>gaA	p.E221E	PDZD4_uc004fiy.1_Silent_p.E140E|PDZD4_uc004fiz.1_Silent_p.E215E|PDZD4_uc004fix.2_Silent_p.E119E|PDZD4_uc011mze.1_Silent_p.E106E|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	215						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACACCTGACTCTCAGGTCGGG	0.602000														14			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631247	179631247	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179631247G>A	uc021vsy.1	-	40	9789	c.9564C>T	c.(9562-9564)ttC>ttT	p.F3188F	TTN_uc021vsz.1_Silent_p.F3142F|TTN_uc021vta.1_Silent_p.F3142F|TTN_uc021vtb.1_Silent_p.F3142F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.F3188F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3188							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAACTTGGAAATTGATTT	0.413000														50			16		0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959788	45959788	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45959788C>T	uc002zfh.1	-	0	291	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	82	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ggcagctagacTGCTGGCAGC	0.687000														61			50		0	0	1	0	0
FAM110C	642273	broad.mit.edu	37	2	46054	46054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:46054C>T	uc010yim.2	-	0	535	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_001077710	NP_001071178	Q1W6H9	F110C_HUMAN	Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA.	111						microtubule|microtubule organizing center|spindle pole				central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		GCCCGATCCTCGCACGAATTC	0.706000														38			30		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81624960	81624960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:81624960C>T	uc021ssk.1	-	21	3103	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	1035						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGGATGGCTCGAACCTGGGC	0.612000														40			15		0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143186006	143186006	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:143186006A>T	uc003evn.3	-	11	1551	c.1342T>A	c.(1342-1344)Tta>Ata	p.L448I		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	448					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CGAATAGCTAAGGCAAATGCG	0.433000														19			45		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1478904	1478904	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:1478904G>A	uc002fsu.3	-	14	2023	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	SLC43A2_uc002fsv.3_Silent_p.F568F	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	568					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCACTACACGAAGGCCTCCT	0.627000														16			18		0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820648	55820648	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55820648T>C	uc010spm.2	+	0	611	c.611T>C	c.(610-612)cTt>cCt	p.L204P		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGTTTACTCTTATATCCACT	0.383000														19			9		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21932281	21932281	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:21932281A>T	uc003svc.3	+	77	12798	c.12767A>T	c.(12766-12768)gAa>gTa	p.E4256V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4256					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCTACAGAAGAAAAGGTAGAG	0.398000									Kartagener syndrome					5			3		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204289	9204289	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9204289C>T	uc010xkj.2	+	0	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATGACCGGTTCGTGGCCATCT	0.552000														38			38		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815539	82815539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:82815539G>A	uc003kii.3	+	6	1770	c.1414G>A	c.(1414-1416)Gat>Aat	p.D472N	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.D472N|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	472	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.D472N(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTATGCTACGGATTCATGGGA	0.418000														59			43		0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120183214	120183214	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:120183214A>T	uc004eto.3	+	0	1753	c.1676A>T	c.(1675-1677)tAg>tTg	p.*559L		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	0					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACCTTCACATAGATGGATCAT	0.438000														34			98		0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789465	117789465	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117789465G>C	uc001prs.2	-	1	256	c.110C>G	c.(109-111)gCc>gGc	p.A37G	TMPRSS13_uc009yzr.2_Missense_Mutation_p.A37G|TMPRSS13_uc021qrc.1_Missense_Mutation_p.A37G|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.A37G	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	37	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AGATGCCTGGGCTGGAGATGC	0.632000														94			3		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54923092	54923092	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:54923092C>T	uc002iur.3	+	3	846	c.666C>T	c.(664-666)atC>atT	p.I222I	DGKE_uc002ius.1_Silent_p.I222I	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	222	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CATTAATAATCCTGGCCAACT	0.373000														57			65		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948050	119948050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:119948050G>A	uc010inb.3	+	2	722	c.526G>A	c.(526-528)Gga>Aga	p.G176R	SYNPO2_uc010ina.3_Missense_Mutation_p.G176R|SYNPO2_uc003icm.4_Missense_Mutation_p.G176R|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.G104R	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	176						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCAAAGAGGACGCGTGGC	0.542000														47			8		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175782	79175782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:79175782G>A	uc001xun.3	+	3	816	c.325G>A	c.(325-327)Ggc>Agc	p.G109S	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G243S	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGAGCCCAATGGCCTGATCCT	0.512000														36			32		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088103	9088103	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9088103T>C	uc002mkp.3	-	0	3916	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1238	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGAGGGTTGGAAGTCCC	0.507000														308			46		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2369634	2369634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2369634G>A	uc002cpy.1	-	7	1533	c.821C>T	c.(820-822)aCc>aTc	p.T274I	ABCA3_uc010bsk.1_Missense_Mutation_p.T274I|ABCA3_uc010bsl.1_Missense_Mutation_p.T274I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	274					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGTGAGCGCGGTGTAGGTGAA	0.612000														35			59		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967947	88967947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:88967947C>T	uc002fmm.2	-	1	558	c.269G>A	c.(268-270)gGg>gAg	p.G90E	CBFA2T3_uc002fml.2_Missense_Mutation_p.G29E|CBFA2T3_uc010cif.1_Missense_Mutation_p.G29E|CBFA2T3_uc002fmn.2_Missense_Mutation_p.G90E	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	90	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCGTGTGGCCCCCTGGGATGC	0.687000			T	RUNX1	AML									40			10		0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46372612	46372612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46372612C>T	uc003bgo.2	-	0	397	c.23G>A	c.(22-24)tGg>tAg	p.W8*		NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	8					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGAAAATCCACTTGCGAAA	0.667000														39			15		0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536184	44536184	+	Silent	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:44536184T>G	uc002oye.3	+	3	572	c.477T>G	c.(475-477)ggT>ggG	p.G159G	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Silent_p.G119G|ZNF222_uc002oyd.3_Silent_p.G65G	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				CTTTCCAGGGTGAAAATTGTA	0.388000														53			32		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325684	21325684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21325684C>T	uc001req.4	+	2	289	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	62					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGAGATATCCTCTTCTCTT	0.313000														25			10		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228145159	228145159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:228145159G>A	uc002vom.2	+	29	2389	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	743	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCTGTAGGGAGAACCAGCAGT	0.468000														54			24		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9739711	9739711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:9739711G>A	uc002gmd.1	+	2	301	c.301G>A	c.(301-303)Gat>Aat	p.D101N	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	101					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CGGGACATTTGATCAGTACGT	0.448000														67			89		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130188260	130188260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:130188260G>A	uc010htj.1	+	37	7906	c.7412G>A	c.(7411-7413)cGa>cAa	p.R2471Q	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R510Q|COL6A5_uc010htk.1_Missense_Mutation_p.R510Q	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2471	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAACTTGGCCGAACCCACAAG	0.393000														27			19		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192875	34192875	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:34192875C>T	uc011kap.2	+	15	2422	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	683					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCTTTGTCCCCAGCGGTGA	0.507000														53			41		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78346396	78346396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:78346396C>T	uc002jyh.2	+	48	12903	c.12760C>T	c.(12760-12762)Ctt>Ttt	p.L4254F	RNF213_uc021uen.1_Missense_Mutation_p.L4205F|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	239										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGTCGTTTCCTTAAGGCATA	0.522000														25			22		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265618	37265618	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37265618G>A	uc002hrg.2	-	2	494	c.282C>T	c.(280-282)tcC>tcT	p.S94S	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	94					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CATAGAGACGGGACACATAAT	0.587000														16			7		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326292	24326292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24326292G>A	uc003xeb.3	+	6	705	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	198					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATCCATGATGAAAAGTATGT	0.308000														59			17		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600922	41600922	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:41600922A>G	uc002opt.3	+	7	1229	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	407					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCTTCTCCAACCCCCGGGAC	0.542000														140			33		0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3168911	3168911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3168911C>T	uc002cub.3	+	5	625	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	ZNF205_uc002cua.3_Missense_Mutation_p.P164S	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	164	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGCAGGCTTTCCCTTCAGCAG	0.637000														48			56		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103123409	103123409	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:103123409C>T	uc022ajr.1	-	62	10351	c.10191G>A	c.(10189-10191)cgG>cgA	p.R3397R	RELN_uc022ajq.1_Silent_p.R3397R|RELN_uc010liz.3_Silent_p.R3397R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3397					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R3397Q(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCTTTCATCCGTGCCTCCC	0.448000														77			57		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137813993	137813993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:137813993C>T	uc002tva.1	+	1	50	c.50C>T	c.(49-51)cCg>cTg	p.P17L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGTAGGTCCGTGGGGAAGG	0.468000														53			22		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477036	63477036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:63477036G>A	uc002lkb.3	+	2	733	c.307G>A	c.(307-309)Gat>Aat	p.D103N	CDH7_uc002ljz.3_Missense_Mutation_p.D103N|CDH7_uc002lka.3_Missense_Mutation_p.D103N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	103	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAACACTGGGGATATTCATGC	0.502000														42			27		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8416089	8416089	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8416089A>G	uc010idk.3	-	4	618	c.473T>C	c.(472-474)cTg>cCg	p.L158P	ACOX3_uc003glc.4_Missense_Mutation_p.L158P|ACOX3_uc003gld.4_Missense_Mutation_p.L158P	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	158					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.A157S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TAATTCGGTCAGAGCAAAACA	0.473000														48			27		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552017	47552017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47552017G>A	uc002zia.1	+	27	2693	c.2611G>A	c.(2611-2613)Gac>Aac	p.D871N	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	871	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGGGACGACGACCCTCTCAA	0.711000														9			3		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252357	46252357	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46252357T>A	uc011bzc.1	-	9	1751	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GABRA2_uc003gxc.3_Missense_Mutation_p.N442Y|GABRA2_uc010igc.2_Missense_Mutation_p.N442Y			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	442					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTTCTCTGTTTAAATATGTA	0.343000														47			25		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292869	33292869	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:33292869G>A	uc001wrq.3	+	12	6020	c.5850G>A	c.(5848-5850)aaG>aaA	p.K1950K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1950					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTGCTGGCAAGGAATTTGTTT	0.383000														24			35		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9547019	9547019	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:9547019G>A	uc002wnl.2	-	5	1548	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PAK7_uc002wnk.2_Nonsense_Mutation_p.R335*|PAK7_uc002wnj.2_Nonsense_Mutation_p.R335*|PAK7_uc010gby.1_Nonsense_Mutation_p.R335*	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	335	Linker.		R -> P (in dbSNP:rs11700112).				ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCTGTGCTCGATCGTAATCC	0.537000														149			51		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124817556	124817556	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:124817556T>G	uc003yqv.3	+	18	1920	c.1859T>G	c.(1858-1860)tTt>tGt	p.F620C	FAM91A1_uc011lik.1_Missense_Mutation_p.F620C|FAM91A1_uc011lil.2_Missense_Mutation_p.F378C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	620										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CCATTTCCATTTGATGAAACA	0.338000														32			6		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248189	5248189	+	Silent	SNP	C	T	T	rs67440443		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5248189C>T	uc001mae.1	-	0	113	c.63G>A	c.(61-63)gtG>gtA	p.V21V	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	21			V -> M (in Olympia; O(2) affinity up; dbSNP:rs35890959).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAACTTCATCCACGTTCACCT	0.512000									Sickle Cell Trait					54			18		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647786	51647786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51647786G>A	uc002pvv.1	+	1	626	c.557G>A	c.(556-558)gGg>gAg	p.G186E	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	186	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		TCCTGGATGGGGACCTCTGTG	0.652000														139			68		0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327931	104327932	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:104327931_104327932CC>TT	uc001tkb.1	+	4	714_715	c.609_610CC>TT	c.(607-612)ttcctt>ttTTtt	p.L204F	HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.L204F	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	204					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ATTCCGCCTTCCTTGTAGCAGA	0.431000														68			25		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6185911	6185911	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:6185911C>T	uc001amb.2	-	26	4197	c.4086G>A	c.(4084-4086)caG>caA	p.Q1362Q	CHD5_uc001alz.2_Silent_p.Q219Q|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1362					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGAGCTCATCCTGCCACTCTG	0.572000														99			57		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47535945	47535945	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:47535945C>T	uc002pfw.3	+	4	673	c.477C>T	c.(475-477)ttC>ttT	p.F159F	NPAS1_uc002pfy.3_Silent_p.F159F|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	159	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		AAGGAAAATTCCTCTACATCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			50		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32120668	32120668	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:32120668G>A	uc001ivz.1	-	10	1718	c.1448_splice	c.e10+1	p.R483_splice	ARHGAP12_uc001ivy.1_Splice_Site_p.R429_splice|ARHGAP12_uc009xls.2_Splice_Site_p.R434_splice|ARHGAP12_uc001iwb.1_Splice_Site_p.R476_splice|ARHGAP12_uc001iwc.1_Splice_Site_p.R451_splice|ARHGAP12_uc009xlq.1_Splice_Site_p.R404_splice|ARHGAP12_uc009xlr.1_Splice_Site_p.R481_splice	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	483	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R483*(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TGTACTTACCGAACCTTTTTC	0.269000														38			11		0	0	1	0	0
RGS21	431704	broad.mit.edu	37	1	192321314	192321314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:192321314G>A	uc001gsh.3	+	3	400	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	76	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						GATTTATTCTGAATTCATTGA	0.383000														46			13		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48152026	48152026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:48152026C>T	uc001ngp.4	+	7	1728	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	PTPRJ_uc001ngo.4_Missense_Mutation_p.S458F	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	458	Fibronectin type-III 5.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCAGTTTCTGACTTCCGA	0.463000														52			22		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:1394015C>T	uc003boz.3	+	11	1639	c.1372C>T	c.(1372-1374)Ctc>Ttc	p.L458F	CNTN6_uc011asj.2_Missense_Mutation_p.L386F|CNTN6_uc003bpa.3_Missense_Mutation_p.L458F	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	458	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323000														31			15		0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57312971	57312971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:57312971C>T	uc010ihd.1	+	2	409	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	PAICS_uc003hbs.1_Missense_Mutation_p.L109F|PAICS_uc011cac.1_Missense_Mutation_p.L109F|PAICS_uc003hbt.1_Missense_Mutation_p.L116F|PAICS_uc003hbu.1_Missense_Mutation_p.L109F	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	109	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGGTTCTTTTCTCAAAAGAAA	0.388000														10			3		0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29040629	29040629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29040629C>T	uc001bra.3	+	9	1208	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	GMEB1_uc001bqz.3_Missense_Mutation_p.H346Y|GMEB1_uc001brb.3_Missense_Mutation_p.H346Y	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCAGGATCACAGGCTGAA	0.498000														99			45		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100587942	100587942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:100587942C>T	uc003yiv.3	+	31	5192	c.5081C>T	c.(5080-5082)tCt>tTt	p.S1694F	VPS13B_uc003yiw.3_Missense_Mutation_p.S1669F	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1694					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAGATTTTTCTGTCCGAATA	0.348000														48			23		0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134467519	134467519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:134467519G>A	uc022bos.1	-	14	2396	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	RAPGEF1_uc022bot.1_Missense_Mutation_p.S728F|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.S903F|RAPGEF1_uc022bov.1_Missense_Mutation_p.S733F	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	728	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTCCTCTGGGGAGATGAAGGT	0.527000														26			48		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124503423	124503423	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124503423C>A	uc003vlm.3	-	7	1128	c.527G>T	c.(526-528)gGa>gTa	p.G176V	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.G45V	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	176					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						AAATGATGCTCCGTCCACTTC	0.383000														76			55		1.80625e-27	1.84759e-27	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9255333	9255333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:9255333G>A	uc002knv.3	+	8	2332	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	ANKRD12_uc002knw.3_Missense_Mutation_p.E667K|ANKRD12_uc002knx.3_Missense_Mutation_p.E667K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E397K	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	690						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						gaggagtgtggaatttgatag	0.294000														26			19		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101552103	101552103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101552103C>T	uc001thz.4	-	13	2024	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	545					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						CTGTTTTCTTCCTCCTGGAAA	0.343000														87			33		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147315	26147315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:26147315G>A	uc002dof.3	+	1	1509	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	373					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CAAAGTACAGGATTTTCTAGG	0.507000														40			14		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42840485	42840485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42840485C>T	uc002otl.4	+	5	1866	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	411						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGACACCGGCCCTCCACTGC	0.637000														20			13		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76359010	76359011	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76359010_76359011TC>AT	uc003ket.3	+	13	2460_2461	c.2078_2079TC>AT	c.(2077-2079)ttc>tAT	p.F693Y		NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	693					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ACTGAAAACTTCCCAGAAACTA	0.411000														59			11		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130131663	130131663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130131663G>A	uc001qga.3	-	1	500	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	ZBTB44_uc001qgb.4_Missense_Mutation_p.R36C|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Missense_Mutation_p.R36C|ZBTB44_uc001qfz.3_Missense_Mutation_p.R36C	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	36	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TCCTGGACACGAATAGTGATA	0.438000														100			37		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34627714	34627714	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34627714A>G	uc011lon.2	-	0	298	c.298T>C	c.(298-300)Tac>Cac	p.Y100H		NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TGTTCCTCGTAGGTCCACTCG	0.622000														44			29		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71032987	71032987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:71032987G>A	uc001swi.2	-	13	2365	c.1951C>T	c.(1951-1953)Ctt>Ttt	p.L651F	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.L406F|PTPRR_uc009zrs.3_Missense_Mutation_p.L445F|PTPRR_uc010stq.2_Missense_Mutation_p.L539F|PTPRB_uc001swc.4_5'Flank|PTPRB_uc001swa.4_5'Flank|PTPRB_uc001swd.4_5'Flank|PTPRB_uc009zrr.2_5'Flank|PTPRB_uc001swe.3_5'Flank	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	651					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCTGCTGAAAGTCTGCTCTCA	0.443000														168			87		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75082833G>A	uc009xrc.3	-	9	1131	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_uc001jty.3_Missense_Mutation_p.S337L|TTC18_uc009xrd.1_Missense_Mutation_p.S145L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	337							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ACCATGAAACGAAAGCTGAGC	0.403000														41			28		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086729	56086729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:56086729C>T	uc001shh.3	-	20	2975	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K	ITGA7_uc001shg.3_Missense_Mutation_p.E915K|ITGA7_uc010sps.2_Missense_Mutation_p.E822K|ITGA7_uc009znw.3_Missense_Mutation_p.E162K|ITGA7_uc009znx.3_Missense_Mutation_p.E796K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	959					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTCCAGCTCCCGCCGCCTC	0.592000														50			28		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305466	136305466	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:136305466G>A	uc004cdv.4	+	16	2231	c.1787_splice	c.e16-1	p.A596_splice	ADAMTS13_uc004cdp.4_Splice_Site|ADAMTS13_uc004cdt.1_Splice_Site_p.A596_splice|ADAMTS13_uc004cdu.1_Splice_Site_p.A565_splice|ADAMTS13_uc004cdw.4_Splice_Site_p.A596_splice|ADAMTS13_uc004cdx.4_Splice_Site_p.A565_splice|ADAMTS13_uc004cdy.1_Splice_Site|ADAMTS13_uc004cdz.4_Splice_Site_p.A266_splice|ADAMTS13_uc004cdr.1_Splice_Site|ADAMTS13_uc004cds.1_Splice_Site_p.A121_splice	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	596	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCCCGACAGCGGTGAGGATCG	0.627000														34			55		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48270171	48270171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:48270171G>A	uc002iqm.3	-	26	1988	c.1862C>T	c.(1861-1863)cCc>cTc	p.P621L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	621	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGGGCCAGGGGGTCCCTGAGC	0.642000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							56			17		0	0	1	0	0
AGMAT	79814	broad.mit.edu	37	1	15904213	15904213	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:15904213C>T	uc001awv.2	-	4	1010	c.867G>A	c.(865-867)ggG>ggA	p.G289G	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	289					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	p.G289G(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCAGGTGTCCCTGTCCCTG	0.517000														69			30		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872101	213872102	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:213872101_213872102CC>AT	uc002vem.3	-	7	1732_1733	c.1563_1564GG>AT	c.(1561-1566)ggggag>ggATag	p.E522*	IKZF2_uc010fuu.3_Nonsense_Mutation_p.E377*|IKZF2_uc002vej.3_Nonsense_Mutation_p.E469*|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Nonsense_Mutation_p.E448*|IKZF2_uc002vel.3_Nonsense_Mutation_p.E443*|IKZF2_uc010fuw.3_Nonsense_Mutation_p.E296*|IKZF2_uc010fux.3_Nonsense_Mutation_p.E296*|IKZF2_uc010fuy.3_Nonsense_Mutation_p.E450*|IKZF2_uc002ven.3_Nonsense_Mutation_p.E496*|IKZF2_uc002vei.3_Nonsense_Mutation_p.E300*	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AATGTGTGCTCCCCTCGAACAA	0.480000														51			32		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064358	78064358	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:78064358A>C	uc002ffh.4	+	2	295	c.214A>C	c.(214-216)Act>Cct	p.T72P	CLEC3A_uc021tlr.1_Missense_Mutation_p.T20P	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	72					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TCTCCGAGGCACTAAAGTTCA	0.413000														79			22		0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263129	232263129	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:232263129C>T	uc002vrs.3	+	1	879	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	233			V -> I (in dbSNP:rs2290130).		protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCCCCCACGTCCCCTTCATTT	0.562000														92			49		0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569212	127569212	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:127569212C>T	uc022bbc.1	-	0	423	c.423G>A	c.(421-423)caG>caA	p.Q141Q	FAM84B_uc003yrz.2_Silent_p.Q141Q	NM_174911	NP_777571	Q96KN1	FA84B_HUMAN	Homo sapiens family with sequence similarity 84, member B (FAM84B), mRNA.	141						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GGTGCACCACCTGGAAGTTAC	0.622000														33			32		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659616	77659616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:77659616G>A	uc010xfl.2	+	1	1201	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	401					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCTTCCCGGTCACCTCCAT	0.692000														73			47		0	0	1	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819193	89819193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:89819193C>T	uc010rub.2	+	0	76	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	26					multicellular organismal development	cytoplasm|nucleus	DNA binding										GGAGAATAATCGCCCATCTGA	0.418000														76			26		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445193	150445193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150445193C>T	uc009wlr.3	+	10	3970	c.3769C>T	c.(3769-3771)Cct>Tct	p.P1257S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Missense_Mutation_p.P1231S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1257	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCCCACCCCCTCCTCCTGG	0.592000														147			64		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203677134	203677134	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:203677134T>G	uc001gzw.3	+	9	2356	c.1459T>G	c.(1459-1461)Tac>Gac	p.Y487D	ATP2B4_uc001gzv.3_Missense_Mutation_p.Y487D|ATP2B4_uc009xaq.3_Missense_Mutation_p.Y487D	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	487					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.H486N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGCATCCATTACCGTCAAAT	0.498000														101			47		0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	C	C	rs112064181	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:29061941T>C	uc021tug.1	+	1		c.231T>C			SUZ12P1_uc002hfp.3_Non-coding_Transcript|SUZ12P1_uc002hfq.3_Non-coding_Transcript					Homo sapiens suppressor of zeste 12 homolog pseudogene (SUZ12P), non-coding RNA.																		TAGATTTCTTTGAACTCGGAA	0.303000														38			4		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990124	42990124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:42990124C>T	uc002rss.3	-	0	1278	c.1196G>A	c.(1195-1197)aGg>aAg	p.R399K		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	399					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCCGCCTTCCTAGAGGCCTC	0.687000														67			20		0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896460	75896460	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:75896460G>A	uc001jwf.3	-	2	805	c.375C>T	c.(373-375)acC>acT	p.T125T	AP3M1_uc001jwg.3_Silent_p.T125T|AP3M1_uc001jwh.3_Silent_p.T125T|AP3M1_uc010qla.2_Intron	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	125					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding	p.T125T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					TGTTAGATTCGGTAGCCAGTG	0.358000														28			9		0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13435174	13435174	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:13435174G>A	uc010rcl.2	-	4	1006	c.735C>T	c.(733-735)atC>atT	p.I245I	BTBD10_uc001mkz.3_Silent_p.I237I|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Silent_p.I189I|BTBD10_uc010rcn.2_Silent_p.I206I|BTBD10_uc009ygo.3_Silent_p.I189I	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	237						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CAGGACAACGGATTATTCCTG	0.338000														40			12		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144316	91144316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:91144316G>A	uc001kgh.3	+	1	1326	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	416							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CCATTCCAGGGAAAAACTTCT	0.383000														65			25		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209974602	209974602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:209974602C>T	uc001hhq.2	-	2	461	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	53					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E52*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGTATTTTCCTCTTCTTGT	0.423000										HNSCC(57;0.16)				59			21		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905572	180905572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:180905572C>T	uc001gok.2	+	4	2594	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	KIAA1614_uc001gol.1_Missense_Mutation_p.P464S|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	843										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGTGGGTATCCCTCGGCCTCC	0.652000														58			34		0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39597622	39597622	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39597622C>T	uc002oki.3	+	11	1423	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	383						extracellular region	acid phosphatase activity|metal ion binding										TTGCTGTCTTCCCGAGGCCCT	0.642000														52			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582062	179582062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179582062G>A	uc021vsy.1	-	84	21892	c.21667C>T	c.(21667-21669)Ctt>Ttt	p.L7223F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3884F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8150	Ig-like 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGAGCAAGATCTACTGAT	0.418000														33			15		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590918	234590918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:234590918C>T	uc002vut.3	+	0	335	c.335C>T	c.(334-336)tCa>tTa	p.S112L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.S112L	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	119					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTAACAAGTTCATCCAATGGT	0.398000														85			20		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23357066	23357066	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:23357066C>T	uc001bgi.2	+	1	605	c.456C>T	c.(454-456)ccC>ccT	p.P152P	KDM1A_uc001bgj.2_Silent_p.P152P	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	152	Poly-Pro.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.P152T(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAAGCTTCCCCCACCACCCC	0.453000														62			33		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48719898	48719898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:48719898G>A	uc001zwx.2	-	57	7465	c.7070C>T	c.(7069-7071)cCc>cTc	p.P2357L	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2357	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.P2357L(2)|p.P2357P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGGTGACGGGGTTCCTGTT	0.542000														53			26		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14770666	14770666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14770666C>T	uc003zlm.3	-	26	5812	c.4996G>A	c.(4996-4998)Gat>Aat	p.D1666N	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.D202N	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1666					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGATCTGATCGTCCTCAGTG	0.458000														28			36		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97093801	97093801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:97093801C>T	uc021rcc.1	+	12	1757	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	560										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TATGAGATATCCCAAATTTTC	0.318000														58			33		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874481	39874481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:39874481C>T	uc001zkh.3	+	2	334	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	52	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTGAAGGGCCCCGACCCTTCC	0.612000														55			36		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35108537	35108537	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35108537C>T	uc003okd.2	-	1	331	c.150G>A	c.(148-150)gaG>gaA	p.E50E	TCP11_uc003ojz.1_Intron|TCP11_uc003oka.2_5'UTR|TCP11_uc003okb.2_5'UTR|TCP11_uc011dsu.1_Silent_p.E37E|TCP11_uc003okc.2_5'UTR|TCP11_uc011dsv.1_Intron|TCP11_uc011dsw.1_Intron	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	37					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GAGGGGGGTCCTCGGAGCCGC	0.652000														24			15		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57340760	57340760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57340760G>A	uc001cyo.2	+	2	442	c.310G>A	c.(310-312)Gag>Aag	p.E104K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	104	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CCAGTGTAAGGAGACAGGTGA	0.478000														30			15		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913503	36913503	+	RNA	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36913503T>C	uc002odz.1	+	0		c.1428T>C								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		GGGACTGGGCTTTACACTGAG	0.517000														38			7		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21978591	21978591	+	Missense_Mutation	SNP	G	A	A	rs140534514	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:21978591G>A	uc003xas.3	-	9	3019	c.2354C>T	c.(2353-2355)cCg>cTg	p.P785L	HR_uc003xat.3_Missense_Mutation_p.P785L	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	785							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCAGGGCCGGAGTGACGGG	0.662000														64			35		0	0	1	0	0
C10orf129	142827	broad.mit.edu	37	10	96971740	96971740	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:96971740C>T	uc001kke.3	+	5	986	c.861C>T	c.(859-861)gcC>gcT	p.A287A	C10orf129_uc009xuu.1_Silent_p.A197A	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	287					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TCCAAGGAGCCTGTGTGTTTC	0.498000														56			14		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28483498	28483498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28483498G>A	uc021yrx.1	-	0	73	c.23C>T	c.(22-24)tCc>tTc	p.S8F	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	8					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GACAAGACAGGAGGCCTGGAA	0.537000														57			23		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746375	47746375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:47746375C>T	uc001crd.1	-	11	1910	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.M538I|STIL_uc010omo.1_Missense_Mutation_p.M585I|STIL_uc001crc.1_Missense_Mutation_p.M585I|STIL_uc001cre.1_Missense_Mutation_p.M585I|STIL_uc001crf.1_Missense_Mutation_p.M198I|STIL_uc001crg.1_Missense_Mutation_p.M538I	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	585	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTGAAGTTCCATTGGTCTTC	0.438000														66			52		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39926465	39926465	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:39926465C>T	uc021olw.1	+	57	16852	c.16852_splice	c.e57+1	p.K5618_splice	MACF1_uc021ols.1_Splice_Site_p.K5113_splice|MACF1_uc021olt.1_Splice_Site_p.K5116_splice|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7074					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTTAGCATCCAGTGAGTCTA	0.443000														118			45		0	0	1	0	0
NBEAP1	606	broad.mit.edu	37	15	20874966	20874967	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:20874966_20874967CC>TT	uc010tze.1	-	3	379	c.172_splice	c.e3-1	p.V58_splice	NBEAP1_uc010tzd.2_Splice_Site					Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA.																		GAAAGTTGAACCTAATACAGAA	0.287000														26			7		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8522054	8522054	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:8522054G>A	uc004csf.3	-	8	1443	c.1293C>T	c.(1291-1293)gtC>gtT	p.V431V		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	431	Fibronectin type-III 3.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGGGAGCTCCGACTTCCAGCG	0.413000														7			29		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798699	212798699	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212798699G>A	uc010pth.1	-	0		c.1415C>T			FAM71A_uc001hjk.3_Silent_p.R160R			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TTGACACACGGGATGACCTCT	0.493000														159			61		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725174	4725174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:4725174C>T	uc003bqc.3	+	25	3571	c.3221C>T	c.(3220-3222)gCc>gTc	p.A1074V	ITPR1_uc021wsi.1_Missense_Mutation_p.A1080V|ITPR1_uc021wsj.1_Missense_Mutation_p.A1065V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1089					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGTCAGGGGCCCTGCAGCTC	0.597000														90			42		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494885	71494885	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:71494885G>T	uc003kbw.4	+	4	5944	c.5703G>T	c.(5701-5703)gtG>gtT	p.V1901V	MAP1B_uc010iyw.1_Silent_p.V1918V|MAP1B_uc010iyx.1_Silent_p.V1775V|MAP1B_uc010iyy.1_Silent_p.V1775V	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1901						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTCAGATGTGGGTGGCTATT	0.453000														49			3		1	1	1	1	0
PGM5P2	595135	broad.mit.edu	37	9	69112874	69112874	+	RNA	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:69112874C>A	uc004aff.4	-	5		c.1186G>T								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		ATACTCCTCCCAAACCCGCGG	0.517000														44			22		9.80776e-20	9.97686e-20	1	1	0
KIAA1644	85352	broad.mit.edu	37	22	44681474	44681474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:44681474C>T	uc003bet.2	-	3	566	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	145						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				CGCCGGGGGTCCTGTTTCATC	0.667000														115			62		0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49897956	49897956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49897956C>T	uc003cxt.1	-	8	995	c.802G>A	c.(802-804)Gag>Aag	p.E268K	CAMKV_uc011bcy.1_Missense_Mutation_p.E193K|CAMKV_uc003cxv.1_Missense_Mutation_p.E240K|CAMKV_uc003cxw.1_Missense_Mutation_p.E100K|CAMKV_uc003cxx.1_Missense_Mutation_p.E100K|CAMKV_uc003cxu.2_Missense_Mutation_p.E268K|CAMKV_uc011bcz.1_Missense_Mutation_p.E231K|CAMKV_uc011bda.1_Missense_Mutation_p.E225K|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	268	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCTCCACCTCCATCAGCCTT	0.582000														27			8		0	0	1	0	0
TMEM218	219854	broad.mit.edu	37	11	124967576	124967577	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:124967576_124967577GG>AA	uc001qbs.3	-	3	925_926	c.273_274CC>TT	c.(271-276)ttcctt>ttTTtt	p.L92F	TMEM218_uc010sax.2_Missense_Mutation_p.L92F|TMEM218_uc010saw.2_Missense_Mutation_p.L127F|TMEM218_uc001qbt.3_Missense_Mutation_p.L127F|TMEM218_uc010say.2_Non-coding_Transcript	NM_001080546	NP_001074015	A2RU14	TM218_HUMAN	Homo sapiens transmembrane protein 218 (TMEM218), mRNA.	92						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGCCTCCAAGGAAGATGGCAC	0.436000														17			9		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14101567	14101567	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:14101567C>T	uc001mle.3	+	6	941	c.673_splice	c.e6+1	p.R225_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	226	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGATTACCCTCGTGAGTAGAG	0.488000														42			15		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	A	A	rs149331677	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:20404428G>A	uc001vwj.2	+	0	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000														56			35		0	0	1	0	0
TPSG1	25823	broad.mit.edu	37	16	1271985	1271985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:1271985G>A	uc002ckw.2	-	5	771	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C		NM_012467	NP_036599	Q9NRR2	TRYG1_HUMAN	Homo sapiens tryptase gamma 1 (TPSG1), mRNA.	257	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.R257C(2)		liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GCAGGGACACGAGTGTAGACT	0.672000														24			29		0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228391	111228391	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111228391C>T	uc001plg.4	-	3	490	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	79					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGCCTCCTCTGTCACTGCA	0.612000			T	BCL6	NHL									18			6		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154502638	154502638	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154502638T>G	uc010ipp.3	+	8	870	c.818T>G	c.(817-819)tTt>tGt	p.F273C	KIAA0922_uc003inm.4_Missense_Mutation_p.F273C|KIAA0922_uc010ipq.3_Missense_Mutation_p.F125C	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	273						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAAAAGAATTTGAAGAAAAC	0.348000														27			38		0	0	1	0	0
FBXW8	26259	broad.mit.edu	37	12	117462069	117462070	+	Silent	DNP	CC	AT	AT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:117462069_117462070CC>AT	uc001twg.1	+	8	1567_1568	c.1485_1486CC>AT	c.(1483-1488)ggcctg>ggATtg	p.495_496GL>GL	FBXW8_uc001twf.1_Silent_p.429_430GL>GL	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	495							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GCGAGGAAGGCCTGGTGTCCGT	0.559000														59			29		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21327511	21327511	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21327511G>A	uc001req.4	+	4	331	c.227_splice	c.e4-1	p.G76_splice		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	76					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CCCTTTCTAGGAAATTTGCTT	0.358000														16			11		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129910434	129910434	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:129910434G>A	uc001lke.3	-	8	2127	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	MKI67_uc001lkf.3_Silent_p.S284S|MKI67_uc009yav.1_Silent_p.S219S|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	644					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTTCTTTTGGAACATATCA	0.373000														67			43		0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91226367	91226367	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:91226367T>C	uc003pnz.1	-	16	1979	c.1674A>G	c.(1672-1674)gaA>gaG	p.E558E	MAP3K7_uc003pny.1_Silent_p.E95E|MAP3K7_uc003pob.1_Silent_p.E531E|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	558					I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCTGGTCCTTTTCATCCTGGT	0.368000														56			25		0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191093011	191093011	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:191093011C>T	uc003fsv.3	+	5	1199	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CCDC50_uc003fsw.3_Intron	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	242						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CGAAGAGATCCCTGTCATCCT	0.488000														26			22		0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910263	14910263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:14910263G>A	uc010xnz.2	-	0	686	c.686C>T	c.(685-687)tCc>tTc	p.S229F		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	229					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCCAGCTGAGGAAATCCTCAG	0.448000														18			23		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18029071	18029071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:18029071C>T	uc010gqw.1	+	15	4022	c.4022C>T	c.(4021-4023)tCc>tTc	p.S1341F	CECR2_uc010gqv.1_Missense_Mutation_p.S1201F|CECR2_uc002zml.2_Missense_Mutation_p.S1202F|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1385					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTTACTCTTCCCCTGTGGCT	0.642000														42			20		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166958650	166958650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:166958650G>A	uc001gdy.1	+	0	132	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	MAEL_uc021peh.1_5'UTR|MAEL_uc001gdz.1_Missense_Mutation_p.E21K|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	21					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAGATCCCCGAACTACGGCG	0.597000														13			5		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201724928	201724928	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:201724928C>G	uc002uwe.2	-	3	582	c.401G>C	c.(400-402)cGa>cCa	p.R134P	CLK1_uc010zhi.1_Missense_Mutation_p.R176P|CLK1_uc002uwf.2_Intron|CLK1_uc002uwg.2_5'UTR	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	134					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCTTTTCCTTCGGTGACTCTT	0.458000														104			40		0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957189	35957189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:35957189C>T	uc011lpi.2	-	0	963	c.907G>A	c.(907-909)Gat>Aat	p.D303N		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCCTTCACATCCTTGTTCCTC	0.507000														105			28		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45410272	45410272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:45410272G>A	uc001rok.1	-	3	989	c.817C>T	c.(817-819)Cct>Tct	p.P273S		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	273						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CATGGAGAAGGGAAACCCAGA	0.488000														118			44		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799041	212799041	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:212799041G>A	uc010pth.1	-	0		c.1073C>T			FAM71A_uc001hjk.3_Silent_p.G274G			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAACAGGGGGGATTAAAGAGg	0.557000														54			29		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82580234	82580234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:82580234C>T	uc003uhx.2	-	5	9959	c.9670G>A	c.(9670-9672)Gag>Aag	p.E3224K	PCLO_uc003uhv.2_Missense_Mutation_p.E3224K|PCLO_uc010lec.3_Missense_Mutation_p.E189K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3155	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTAATTTTCTCCAGTTCCAGG	0.438000														57			17		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304602	115304602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:115304602G>A	uc022cdd.1	+	0	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	AGTR2_uc004eqh.4_Missense_Mutation_p.E357K	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	357					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TTCTCTTAGAGAAATGGAGAC	0.423000														17			41		0	0	1	0	0
APPBP2	10513	broad.mit.edu	37	17	58539383	58539383	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:58539383A>G	uc002iys.1	-	6	1090	c.802T>C	c.(802-804)Tta>Cta	p.L268L	APPBP2_uc010ddl.1_Silent_p.L197L	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	268					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			TGTTTAATTAACTGTTCTGCC	0.294000														173			142		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44839137	44839137	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:44839137C>T	uc002xrm.2	-	5	1494	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	CDH22_uc010ghk.1_Silent_p.V365V|CDH22_uc002xrn.2_Silent_p.V116V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	365	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F364L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AGCGGGGGTCCACGAACTTGT	0.706000														38			22		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269775	1269775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1269775G>A	uc001lta.3	+	30	11724	c.11665G>A	c.(11665-11667)Gtg>Atg	p.V3889M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3889	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACGCCTCCAGTGTGGATCAG	0.652000														64			41		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7671250	7671250	+	Silent	SNP	C	T	T	rs147333435	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:7671250C>T	uc002giu.1	+	21	3722	c.3708C>T	c.(3706-3708)atC>atT	p.I1236I		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1236	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGGGAGATCGCACGAGACT	0.612000														18			28		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118373290	118373290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:118373290C>T	uc001pta.3	+	26	6697	c.6674C>T	c.(6673-6675)tCc>tTc	p.S2225F	MLL_uc001ptb.3_Missense_Mutation_p.S2228F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2225					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AATAATGTTTCCTCAGTCTCC	0.468000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									24			22		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235247	50235247	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:50235247G>A	uc002xwg.1	-	20	2304	c.2304C>T	c.(2302-2304)atC>atT	p.I768I	ATP9A_uc010gih.1_Silent_p.I632I|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	768					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGGCGCACGATCTGGGCCT	0.647000														43			33		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35723349	35723349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:35723349G>A	uc011axy.2	+	1	318	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ARPP21_uc003cga.3_Missense_Mutation_p.E36K|ARPP21_uc003cgb.3_Missense_Mutation_p.E36K|ARPP21_uc003cfz.3_Non-coding_Transcript|ARPP21_uc003cgc.3_Missense_Mutation_p.E36K|ARPP21_uc003cgd.3_Missense_Mutation_p.E36K|ARPP21_uc011axx.2_Missense_Mutation_p.E36K|ARPP21_uc003cge.3_Missense_Mutation_p.E36K	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	36						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGTCTGGATGAAGAGGAGAA	0.473000														42			22		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321835	79321835	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:79321835C>T	uc010mpk.3	-	7	5479	c.5355G>A	c.(5353-5355)gaG>gaA	p.E1785E	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.E1607E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1785					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGATCTCTTCTCCTTCTCCA	0.443000														12			12		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616153	8616153	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:8616153G>T	uc003glm.3	+	8	1605	c.1431G>T	c.(1429-1431)aaG>aaT	p.K477N	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.K466N|CPZ_uc003gln.3_Missense_Mutation_p.K340N	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	477					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCTGTGTGAAGTTCCCCCCCG	0.572000														68			12		2.29192e-23	2.33707e-23	1	1	0
OAS1	4938	broad.mit.edu	37	12	113344883	113344883	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113344883C>A	uc001tuc.3	+	0	145	c.39C>A	c.(37-39)gaC>gaA	p.D13E	OAS1_uc010syn.2_Missense_Mutation_p.D12E|OAS1_uc010syo.2_Missense_Mutation_p.D12E|OAS1_uc001tub.3_Missense_Mutation_p.D13E|OAS1_uc001tud.3_Missense_Mutation_p.D13E|OAS1_uc009zwf.3_Missense_Mutation_p.D12E	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	13					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AATCTCTGGACAAGTTCATTG	0.473000														121			76		5.62478e-27	5.74753e-27	1	1	0
IRAK2	3656	broad.mit.edu	37	3	10280494	10280494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10280494G>A	uc003bve.1	+	11	1612	c.1536G>A	c.(1534-1536)tgG>tgA	p.W512*		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	512					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TGCTCCCTTGGAGTGGGCTTT	0.562000														73			45		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553749	19553749	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:19553749G>A	uc001vuz.1	+	0	385	c.333G>A	c.(331-333)ggG>ggA	p.G111G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	111								p.R110W(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTGCAGGGGGAGCGGCAAGA	0.597000														700			72		0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113909184	113909184	+	Silent	SNP	C	T	T	rs142448695		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:113909184C>T	uc001tvj.1	-	0	694	c.120G>A	c.(118-120)tcG>tcA	p.S40S		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	40	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						AGCACTTCTCCGAGAGGTTGG	0.612000														41			11		0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106739478	106739478	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:106739478T>C	uc002tdm.3	-	8	790	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	UXS1_uc002tdl.3_Missense_Mutation_p.Y63C|UXS1_uc002tdn.3_Missense_Mutation_p.Y236C|UXS1_uc002tdo.3_Missense_Mutation_p.Y174C|UXS1_uc010ywh.2_Missense_Mutation_p.Y75C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	231					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						GCCTTCATCGTAGCAGGCCCG	0.517000														81			30		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407847	50407847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:50407847C>T	uc002xwh.4	-	1	1276	c.1175G>A	c.(1174-1176)gGg>gAg	p.G392E	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	392					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392V(2)|p.F391L(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTATCAGTCCCAAAAACCTT	0.562000														82			38		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150720281	150720281	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150720281G>A	uc011kvc.2	-	3	748	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	224					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGACAATGAAAATAAATT	0.567000														176			183		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668335	59668335	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:59668335C>T	uc002izj.2	-	0	229	c.207G>A	c.(205-207)caG>caA	p.Q69Q		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	69					protein transport	cytoplasm|nucleus		p.Q69P(1)		large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CACTCCGACTCTGTTTTGCTT	0.473000														249			90		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28499933	28499933	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28499933G>A	uc002dpo.3	-	3	596	c.273C>T	c.(271-273)gaC>gaT	p.D91D	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Intron|CLN3_uc002dpm.3_Silent_p.D37D|CLN3_uc010vcu.2_Missense_Mutation_p.T18I|CLN3_uc010vcv.2_Intron|CLN3_uc002dpp.3_Silent_p.D91D|CLN3_uc021tfs.1_Silent_p.D37D|CLN3_uc002dpt.1_Missense_Mutation_p.T18I|CLN3_uc002dpq.1_Silent_p.D91D|CLN3_uc010bye.1_Silent_p.D91D|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Silent_p.D37D|CLN3_uc002dpw.1_Silent_p.D37D|CLN3_uc010vcw.1_Silent_p.D37D|CLN3_uc002dqa.2_Silent_p.D142D|CLN3_uc010vcx.1_Missense_Mutation_p.T18I|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Silent_p.D34D|CLN3_uc002dpz.1_Intron	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	91					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CAGAGTTGCAGTCAAATCGTG	0.577000														113			86		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122459974	122459974	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:122459974C>T	uc004etq.4	+	3	898	c.606C>T	c.(604-606)ttC>ttT	p.F202F	GRIA3_uc004etr.4_Silent_p.F202F|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.F186F	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	202					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCCAAGAATTCAGGCGCATCA	0.443000														17			43		0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459350	9459350	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9459350T>G	uc001mho.3	+	20	2460	c.2318T>G	c.(2317-2319)gTt>gGt	p.V773G		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	773					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAAGAGAGGTTAAGACAAGT	0.363000														24			15		0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197594822	197594822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:197594822G>A	uc002utp.1	+	24	3097	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	CCDC150_uc010zgs.1_Missense_Mutation_p.E635K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	988										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AATAAGGCAGGAGCTAGAGAA	0.458000														23			9		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561716	65561716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:65561716G>A	uc001ofp.3	+	1	655	c.315G>A	c.(313-315)atG>atA	p.M105I	OVOL1_uc001ofq.3_Missense_Mutation_p.M43I	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	105					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		GCACCAAGATGAAGGTAATGC	0.617000														22			21		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150722505	150722505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:150722505G>A	uc001evn.3	-	5	1031	c.770C>T	c.(769-771)cCt>cTt	p.P257L	CTSS_uc010pcj.2_Missense_Mutation_p.P207L	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	257					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGAAAGAAGGATGACGCGC	0.398000														47			18		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130353461	130353461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:130353461G>A	uc010htl.3	+	25	5051	c.5020G>A	c.(5020-5022)Gga>Aga	p.G1674R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1674	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGGAGAAAGTGGACCTAAGGT	0.413000														13			9		0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19490827	19490827	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:19490827C>T	uc002dgc.4	+	13	2993	c.2244C>T	c.(2242-2244)tcC>tcT	p.S748S	TMC5_uc010vaq.2_Silent_p.S696S|TMC5_uc002dgb.4_Silent_p.S748S|TMC5_uc010var.2_Silent_p.S748S|TMC5_uc002dgd.1_Silent_p.S502S|TMC5_uc002dge.4_Silent_p.S502S|TMC5_uc002dgf.4_Silent_p.S431S|TMC5_uc002dgg.4_Silent_p.S389S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	748						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TAGTCAATTCCTTCCTGGGGG	0.463000														103			75		0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040950	51040950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:51040950C>T	uc001zyv.3	-	2	475	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	99	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGGCTTTTTCAAGAAAATGG	0.393000														143			66		0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81969214	81969214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:81969214G>A	uc010tvv.2	-	5	745	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	SEL1L_uc001xvo.4_Missense_Mutation_p.L210F	NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	210	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GCCTTTTGGAGATACCGATAT	0.363000														39			4		0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115593014	115593014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:115593014C>T	uc004eqj.1	-	1	356	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	79						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TACCAATATTCGCTTCTGCCT	0.428000														33			70		0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83933099	83933099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:83933099C>T	uc002bjt.1	-	3	992	c.904G>A	c.(904-906)Gat>Aat	p.D302N	BNC1_uc010uos.1_Missense_Mutation_p.D290N	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	302					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AAACACTGATCTTTTTCAACC	0.443000														46			20		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981922	7981922	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7981922G>A	uc001mfv.1	-	1	1254	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	413	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGGAGCACAGACTCCTCAGG	0.542000														39			10		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56651568	56651568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:56651568C>T	uc003dhz.3	+	13	2359	c.2272C>T	c.(2272-2274)Cca>Tca	p.P758S	CCDC66_uc003dhy.3_Missense_Mutation_p.P394S|CCDC66_uc003dhu.3_Missense_Mutation_p.P724S|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.P126S	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	758										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGGCATTTCACCAGAAATTTT	0.383000														37			23		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67365639	67365639	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:67365639G>A	uc002lkl.3	+	5	607	c.410_splice	c.e5-1	p.E137_splice		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	137	IRS-type PTB.						insulin receptor binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCTTCACAGAGAGATTCAA	0.388000														46			29		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039784	36039784	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:36039784A>G	uc003jjz.2	-	4	1002	c.870T>C	c.(868-870)ttT>ttC	p.F290F	UGT3A2_uc011cos.2_Silent_p.F256F|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	290						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGAGTCCCCAAACTTGGCAA	0.448000														42			14		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799655	133799655	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:133799655G>A	uc004bzz.3	-	2	926	c.681C>T	c.(679-681)gcC>gcT	p.A227A	FIBCD1_uc011mcc.2_Silent_p.A227A	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	227					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGGTTCCCCGGGCAGGCGCTC	0.721000														6			10		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824099	160824099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:160824099G>A	uc002ube.2	-	19	3067	c.2855C>T	c.(2854-2856)cCa>cTa	p.P952L	PLA2R1_uc010zcp.2_Missense_Mutation_p.P952L|PLA2R1_uc002ubf.3_Missense_Mutation_p.P952L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	952					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGTTGTTTTGGTGTATCTTT	0.378000														65			32		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782767	149782767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:149782767C>T	uc003lsc.3	-	6	921	c.734G>A	c.(733-735)gGg>gAg	p.G245E	CD74_uc003lsd.3_Intron|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	245	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCGATGCTCCCATAGCACTG	0.597000			T	ROS1	NSCLC									92			10		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426716	212426716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:212426716G>A	uc002veg.1	-	19	2497	c.2399C>T	c.(2398-2400)cCc>cTc	p.P800L	ERBB4_uc002veh.1_Missense_Mutation_p.P800L|ERBB4_uc010zji.1_Missense_Mutation_p.P790L|ERBB4_uc010zjj.1_Missense_Mutation_p.P790L|ERBB4_uc010fut.1_Missense_Mutation_p.P800L	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	800	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P800S(1)|p.M799L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGCCATGGGGCATAAGTTG	0.507000										TSP Lung(8;0.080)				94			46		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76455240	76455240	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:76455240G>C	uc010dhp.2	-	60	9829	c.9704C>G	c.(9703-9705)tCc>tGc	p.S3235C	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCGGCCGTGGACTTGGAGCG	0.657000														270			226		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400809	11400809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:11400809C>T	uc001mjo.2	-	3	1019	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	200	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCCTTCAGTTCCTCTGTCAGG	0.532000														48			13		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117657	117657	+	RNA	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrGL000205.1:117657G>T	uc002kgk.4	+	0		c.1035G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGGAAGGCACGCGAGTTCAGA	0.622000														13			5		0.000274275	0.000275395	1	1	0
RBM19	9904	broad.mit.edu	37	12	114282522	114282522	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:114282522G>A	uc009zwi.2	-	22	2880	c.2736C>T	c.(2734-2736)tcC>tcT	p.S912S	RBM19_uc001tvn.4_Silent_p.S912S|RBM19_uc001tvm.3_Silent_p.S912S	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	912	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGTCACCTCGGAGTCGGCCC	0.642000														27			12		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44611980	44611980	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:44611980A>G	uc003tlg.3	-	4	1254	c.611T>C	c.(610-612)gTa>gCa	p.V204A	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.V204A|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	204	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GAGTGCTTGTACGTCCTCGTT	0.488000														34			13		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006910	8006910	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:8006910G>T	uc010qbd.2	+	2	1437	c.1437G>T	c.(1435-1437)ctG>ctT	p.L479L		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	479					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGCAAAACTGGGAACACCTT	0.488000														72			42		1.38658e-30	1.41929e-30	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167085304	167085304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167085304G>A	uc010fpl.3	-	21	4411	c.4070C>T	c.(4069-4071)tCc>tTc	p.S1357F	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1368						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(1)|p.R1356L(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAAACATTCGGAACGATTTGG	0.403000														165			95		0	0	1	0	0
FLJ35282	441389	broad.mit.edu	37	9	22823403	22823403	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:22823403G>A	uc003zpq.1	+	5		c.1538G>A								Homo sapiens uncharacterized LOC441389 (FLJ35282), non-coding RNA.																		ccctcccgaggaaatctcaac	0.542000														19			5		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150718296	150718296	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150718296C>T	uc011kvc.2	-	4	1018	c.942G>A	c.(940-942)agG>agA	p.R314R	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	314					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGGGCCTCCCTGTAAAACA	0.617000														143			54		0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68624324	68624324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:68624324G>A	uc010bib.3	-	13	1730	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	ITGA11_uc002ari.3_Missense_Mutation_p.S548L	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	548					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GTCTCGAACTGAGGCAATGGA	0.522000														19			13		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144133488	144133488	+	Silent	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:144133488T>A	uc003ijb.3	+	7	2049	c.1515T>A	c.(1513-1515)ccT>ccA	p.P505P	USP38_uc003ija.4_Silent_p.P505P|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	505					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CATACGCACCTCGGATATTCT	0.383000														64			40		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6683991	6683991	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:6683991C>T	uc010vtg.2	+	1	924	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	268										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GACAGGTCATCTGGGGTATGT	0.547000														29			42		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452414	10452414	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:10452414G>A	uc003bvt.3	-	2	724	c.285C>T	c.(283-285)ttC>ttT	p.F95F	ATP2B2_uc003bvv.3_Silent_p.F95F|ATP2B2_uc003bvw.3_Silent_p.F95F|ATP2B2_uc010hdp.2_Silent_p.F95F|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	95					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGAGCTGCAGGAAGGTTTTTG	0.562000														277			170		0	0	1	0	0
ARF4	378	broad.mit.edu	37	3	57570183	57570183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:57570183C>T	uc003dix.4	-	1	424	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001660	NP_001651	P18085	ARF4_HUMAN	Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA.	26					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity	p.L25F(1)		large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		CCAGCAGCATCCAATCCAACT	0.333000														114			71		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713742	70713742	+	Silent	SNP	G	A	A	rs115439852	by1000genomes	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:70713742G>A	uc010ttg.2	-	0	777	c.126C>T	c.(124-126)ctC>ctT	p.L42L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		CCACAACAACGAGCTCCAGAA	0.433000														61			6		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769235	57769235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:57769235C>T	uc002yan.3	+	0	3161	c.3161C>T	c.(3160-3162)tCc>tTc	p.S1054F		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1054						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTACCTCCTCCCCGCCCACT	0.642000														24			9		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29654857	29654858	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:29654857_29654858GG>AA	uc002hgg.3	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_uc002hgh.3_Splice_Site_p.R1849_splice|NF1_uc002hgi.1_Splice_Site_p.R882_splice|NF1_uc010cso.3_Splice_Site_p.R58_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1870					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTTT	0.376000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				13			17		0	0	1	0	0
YWHAQ	10971	broad.mit.edu	37	2	9728436	9728436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:9728436C>T	uc002qzx.3	-	3	559	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	147					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TTGGTAAGCTCCTTGGGAATT	0.378000														44			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057883	152057883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152057883C>T	uc001ezo.1	-	2	2340	c.2275G>A	c.(2275-2277)Ggt>Agt	p.G759S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	759							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTTTGGTCACCACCTTCTCCT	0.478000														84			57		0	0	1	0	0
NIPA1	123606	broad.mit.edu	37	15	23052734	23052734	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:23052734G>A	uc001yvc.3	-	3	364	c.339C>T	c.(337-339)ctC>ctT	p.L113L	NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Silent_p.L38L	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	113					cell death	early endosome|integral to membrane|plasma membrane		p.L113F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTTCCTTCAGGAGATAGGAAG	0.418000														60			37		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72745695	72745695	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:72745695G>A	uc003tya.2	+	4	636	c.504G>A	c.(502-504)ctG>ctA	p.L168L	FKBP6_uc003twz.2_Silent_p.L138L|FKBP6_uc011kew.1_Silent_p.L163L|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	168					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGAAGGTCCTGAAAGTGGCAG	0.453000														94			38		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243069	50243069	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50243069G>A	uc002ppm.3	-	10	1754	c.1743C>T	c.(1741-1743)acC>acT	p.T581T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	581							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTTTTGGGGGGGTTCCTGCAC	0.542000														88			23		0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49948123	49948123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:49948123C>T	uc003cxz.3	-	3	1225	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	MON1A_uc003cya.3_Missense_Mutation_p.G205S|MON1A_uc003cyb.2_Missense_Mutation_p.G205S	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	270							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCTCTGAGCCCGAGAGTAGG	0.622000														17			7		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282439	23282439	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23282439C>A	uc001wgr.4	-	1	307	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F	SLC7A7_uc001wgs.4_Missense_Mutation_p.V57F|SLC7A7_uc001wgt.4_Missense_Mutation_p.V57F|SLC7A7_uc001wgu.4_Missense_Mutation_p.V57F|SLC7A7_uc001wgv.4_Missense_Mutation_p.V57F	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	57					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTGGGGGAAACAAAGATGCCC	0.577000														110			9		0.0809354	0.0811003	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179734016	179734016	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179734016A>G	uc002une.2	-	14	2340	c.2222T>C	c.(2221-2223)gTt>gCt	p.V741A	CCDC141_uc002unf.1_Missense_Mutation_p.V220A	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	166							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATGTACTGAACCTCATCATT	0.323000														21			4		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688733	60688733	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:60688733G>A	uc002sae.1	-	3	1542	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	BCL11A_uc002sab.3_Silent_p.S438S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.S107S|BCL11A_uc010ypj.2_Silent_p.S404S|BCL11A_uc002sad.1_Silent_p.S286S|BCL11A_uc002saf.1_Silent_p.S404S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	438					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)			GACCGTCGTCGGACTTGACCG	0.637000			T	IGH@	B-CLL									61			33		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196837163	196837163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:196837163C>T	uc002utj.4	-	15	1962	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	621	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAATCATATCAGTTACCTCC	0.408000														67			29		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016552	239016552	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:239016552A>G	uc002vxq.4	+	3	903	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	ESPNL_uc010fyw.3_Missense_Mutation_p.I5V	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	265										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTACCCCCATCCTGAGAGA	0.652000														15			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815929	106815929	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106815929G>A	uc021ser.1	-	558		c.15798C>T								Parts of antibodies, mostly variable regions.																		CATAGCTACTGAAGGTGAATC	0.572000														8			5		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136467052	136467052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:136467052C>T	uc002tuo.3	+	20	2774	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	R3HDM1_uc010fni.3_Missense_Mutation_p.P801S|R3HDM1_uc002tup.3_Missense_Mutation_p.P747S|R3HDM1_uc010zbh.2_Missense_Mutation_p.P550S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	802							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGTACAATTTCCTCGAACCAC	0.388000														69			30		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14789050	14789050	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:14789050C>T	uc003zlm.3	-	23	4860	c.4044G>A	c.(4042-4044)ctG>ctA	p.L1348L	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1348					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGCAAGTTCAGATCCACTT	0.517000														11			10		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075215	117075215	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:117075215G>A	uc001lcg.3	+	17	3392	c.3006G>A	c.(3004-3006)aaG>aaA	p.K1002K	ATRNL1_uc010qsm.2_Silent_p.K177K|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1002	PSI 5.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAAAGAAAAGAACTATGAGT	0.403000														60			35		0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747577	143747578	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:143747577_143747578GG>AA	uc011ktw.2	+	0	83_84	c.83_84GG>AA	c.(82-84)ggg>gAA	p.G28E		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTCCTCTCTGGGCTTTTCTCCC	0.510000														137			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056568	9056568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9056568C>T	uc002mkp.3	-	2	31082	c.30878G>A	c.(30877-30879)gGa>gAa	p.G10293E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10295	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCGTGGAACTCCAGTGGTGGC	0.517000														84			13		0	0	1	0	0
COPS5	10987	broad.mit.edu	37	8	67958055	67958055	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:67958055T>C	uc003xxf.3	-	8	1220	c.1047A>G	c.(1045-1047)acA>acG	p.T349T	COPS5_uc003xxd.3_Silent_p.T240T|COPS5_uc003xxe.3_Silent_p.T304T|COPS5_uc010lyu.1_Non-coding_Transcript|JA611241_uc022avn.1_5'Flank			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	304					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACCTGTCTCTTGTAGCTTTGG	0.398000														72			30		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060605	46060605	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:46060605C>T	uc003gxb.3	-	5	812	c.660G>A	c.(658-660)tgG>tgA	p.W220*		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	220					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGGGCTTTTTCCACTTATACT	0.358000														22			13		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509256	105509256	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:105509256G>A	uc003yma.3	-	4	1651	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	LRP12_uc003ymb.3_Silent_p.L489L|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	508					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATGCTATGACGAGTAACAGGC	0.458000														48			17		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725967	55725967	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55725967C>T	uc010spj.2	+	0	483	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGCTTCTCCTCCAGCTGGATT	0.443000														205			94		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98986506	98986506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98986506G>A	uc002syt.3	+	1	485	c.68G>A	c.(67-69)cGa>cAa	p.R23Q	CNGA3_uc002syu.3_Missense_Mutation_p.R23Q	NM_001298	NP_001289	Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	23					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACCTCAGACCGAGATCTCAAT	0.507000														42			17		0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453304	21453304	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21453304C>T	uc001rer.3	-	6	1139	c.888G>A	c.(886-888)aaG>aaA	p.K296K	SLCO1A2_uc010siq.2_Silent_p.K164K|SLCO1A2_uc001res.3_Silent_p.K296K|SLCO1A2_uc010sio.2_Silent_p.K164K|SLCO1A2_uc010sip.2_Silent_p.K164K|SLCO1A2_uc001ret.3_Silent_p.K294K|SLCO1A2_uc001reu.2_Silent_p.K276K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	296					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.K295K(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CATATTTTTCCTTCTTGACCT	0.294000														23			6		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013906	7013906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:7013906C>T	uc002knm.3	-	22	3365	c.3271G>A	c.(3271-3273)Gac>Aac	p.D1091N	LAMA1_uc010wzj.2_Missense_Mutation_p.D567N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1091	Laminin EGF-like 13.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTCACAGTCACAGGGAACA	0.597000														11			16		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206921493	206921493	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:206921493G>A	uc002vaz.4	-	3	798	c.393C>T	c.(391-393)ctC>ctT	p.L131L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	131					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CAGGTGGAGAGAGGGACATTC	0.527000														15			5		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50248481	50248481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:50248481G>A	uc002ppm.3	-	6	1176	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	389							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCATCCGCCCGACCTCGCAGC	0.682000														39			42		0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850624	216850624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:216850624G>A	uc001hkw.2	-	1	439	c.266C>T	c.(265-267)cCt>cTt	p.P89L	ESRRG_uc009xdp.1_Missense_Mutation_p.P66L|ESRRG_uc001hky.1_Missense_Mutation_p.P66L|ESRRG_uc001hkz.2_Missense_Mutation_p.P66L|ESRRG_uc010puc.2_Missense_Mutation_p.P66L|ESRRG_uc001hla.2_Missense_Mutation_p.P66L|ESRRG_uc001hlb.2_Missense_Mutation_p.P66L|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.P66L|ESRRG_uc001hld.1_Missense_Mutation_p.P66L|ESRRG_uc001hkx.2_Missense_Mutation_p.P94L|ESRRG_uc009xdo.2_Missense_Mutation_p.P66L|ESRRG_uc001hle.2_Missense_Mutation_p.P66L|ESRRG_uc021piz.1_Missense_Mutation_p.P66L	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	89					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCCAGGATAGGAGCAGAAGG	0.537000														90			57		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161143514	161143514	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:161143514C>A	uc002ubo.3	-	6	1166	c.722G>T	c.(721-723)gGa>gTa	p.G241V	RBMS1_uc002ubn.3_Missense_Mutation_p.G241V|RBMS1_uc002ubi.4_Missense_Mutation_p.G241V|RBMS1_uc002ubm.3_Missense_Mutation_p.G208V|RBMS1_uc002ubp.3_Missense_Mutation_p.G241V|RBMS1_uc010fox.2_Missense_Mutation_p.G241V	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	241					DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								CCATGGTCTTCCATTAGGGAT	0.443000														117			54		8.37424e-50	8.5927e-50	1	1	0
SPATA21	374955	broad.mit.edu	37	1	16725845	16725845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:16725845C>T	uc001ayn.3	-	11	1829	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.G426E	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	449							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCACCTGTTTCCTTGAGATCC	0.577000														33			20		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368395	111368395	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:111368395C>T	uc003vfy.3	-	53	6240	c.5971G>A	c.(5971-5973)Ggg>Agg	p.G1991R	DOCK4_uc011kml.2_Missense_Mutation_p.G827R|DOCK4_uc011kmm.2_Missense_Mutation_p.G815R|DOCK4_uc003vfw.3_Missense_Mutation_p.G1358R|DOCK4_uc003vfx.3_Missense_Mutation_p.G1946R|DOCK4_uc003vfv.3_Missense_Mutation_p.G259R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1946					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTCCGGGCCCCATTCTCCAGG	0.667000														34			19		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159847190	159847190	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:159847190G>A	uc001fui.3	-	8	1125	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.I284I|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.I355I	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	369						mitochondrion|soluble fraction		p.I369I(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCAAGCGTGCGATCTCCTTCT	0.542000														237			167		0	0	1	0	0
GNRH2	2797	broad.mit.edu	37	20	3025446	3025446	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3025446C>T	uc002whr.1	+	2	327	c.276C>T	c.(274-276)tcC>tcT	p.S92S	GNRH2_uc002whp.1_Silent_p.S85S|GNRH2_uc002whq.1_Silent_p.S84S|GNRH2_uc010gau.1_Silent_p.S92S|MRPS26_uc002whs.3_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA.	92					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						CCCAGTGGTCCCTTCACAGGA	0.642000														28			7		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2884977	2884977	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:2884977C>T	uc002kln.3	+	2	432	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	91	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAGTGAACTTCAGACCTAGAT	0.498000														50			31		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552972	14552972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:14552972C>T	uc021wtn.1	-	16	2024	c.2024G>A	c.(2023-2025)cGa>cAa	p.R675Q	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	579	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGGCTCCCCTCGTTTCCTGCT	0.602000														29			18		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67681469	67681469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67681469G>A	uc002etn.3	+	10	955	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RLTPR_uc010cel.1_Missense_Mutation_p.E279K|RLTPR_uc010vjr.2_Missense_Mutation_p.E279K	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	279										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGCTGCGGGAGCTCAGCCT	0.657000														13			7		0	0	1	0	0
NNAT	4826	broad.mit.edu	37	20	36150759	36150759	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:36150759G>A	uc002xhd.3	+	2	200	c.73_splice	c.e2-1	p.V25_splice	BLCAP_uc021wde.1_Intron|BLCAP_uc021wdf.1_Intron|BLCAP_uc002xhb.3_Intron|BLCAP_uc002xha.3_Intron|BLCAP_uc002xhc.3_Intron|NNAT_uc002xhe.3_Intron	NM_005386	NP_005377	Q16517	NNAT_HUMAN	Homo sapiens neuronatin (NNAT), transcript variant 1, mRNA.	25					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				TTTCCTTCAAGGTGTTCCTGG	0.458000														47			20		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540497	169540497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:169540497G>A	uc003fgb.3	+	0	788	c.788G>A	c.(787-789)gGg>gAg	p.G263E		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	263										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACGGAAATCGGGCTGAGCGGG	0.607000														15			22		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894208	123894208	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:123894208C>T	uc010sad.2	+	0	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TATTGACTTTCCATTTGCCCT	0.557000														177			81		0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9048913	9048913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9048913G>A	uc001mhi.2	-	18	2603	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I	SCUBE2_uc021qdk.1_Missense_Mutation_p.T319I|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	871	CUB.		P -> R (in dbSNP:rs3751059).			extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGACGCACAGGTTTTCCGCAT	0.587000														19			8		0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060065	71060065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:71060065G>A	uc002shg.3	-	3	730	c.683C>T	c.(682-684)tCa>tTa	p.S228L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	228	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GGTCAGGTGTGAATTCCTGGA	0.527000														59			25		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141474287	141474287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141474287C>T	uc002tvj.1	-	35	6829	c.5857G>A	c.(5857-5859)Gga>Aga	p.G1953R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1953					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCACTCTTCCCAAGCCATTG	0.398000										TSP Lung(27;0.18)				70			34		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147806	67147806	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:67147806C>T	uc001dcr.3	+	14	1286	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.P124S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	357	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding	p.P357L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCCCCAGGTCCCACAGGCCC	0.587000														143			101		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87012829	87012829	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:87012829C>T	uc009wcs.3	+	0	71	c.27C>T	c.(25-27)ttC>ttT	p.F9F	CLCA4_uc009wct.3_5'UTR|CLCA4_uc009wcu.3_5'UTR	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	9						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GTTTTGTTTTCCTCTTAGTTC	0.368000														94			29		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:8737765C>T	uc002wnb.3	+	23	2599	c.2596C>T	c.(2596-2598)Cac>Tac	p.H866Y	PLCB1_uc010zrb.1_Missense_Mutation_p.H765Y|PLCB1_uc002wna.3_Missense_Mutation_p.H866Y|PLCB1_uc002wnc.1_Missense_Mutation_p.H765Y|PLCB1_uc002wnd.1_Missense_Mutation_p.H443Y	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	866					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498000														87			34		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47681690	47681690	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:47681690G>T	uc003oyz.1	+	6	880	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	GPR115_uc003oza.1_Nonsense_Mutation_p.E237*|GPR115_uc003ozb.1_Nonsense_Mutation_p.E237*|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	237					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATTGTGAATGAACTCTTCAT	0.383000														66			36		9.84934e-19	9.99847e-19	1	1	0
IQCA1	79781	broad.mit.edu	37	2	237272521	237272521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237272521C>T	uc002vwb.2	-	14	1829	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	IQCA1_uc002vvz.1_Missense_Mutation_p.E591K|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E550K	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	591							ATP binding	p.T598T(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCTCCCGTTTCGGTGCAGATG	0.512000														92			45		0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95712866	95712866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:95712866G>A	uc001pfw.1	-	4	4002	c.2717C>T	c.(2716-2718)cCt>cTt	p.P906L		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	906					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGCATCATAGGGTTGTTTTG	0.408000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									72			32		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656403	51656403	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51656403C>T	uc002pvv.1	+	6	1374	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	SIGLEC7_uc002pvw.1_Silent_p.I342I|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_3'UTR	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	435					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AAAGAGAGATCCAGTATGCAC	0.537000														77			69		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657079	46657079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46657079G>A	uc003bhh.3	-	0	2141	c.2141C>T	c.(2140-2142)gCt>gTt	p.A714V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	714	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAAAACGGAAGCTACTATATA	0.393000														50			44		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188875	140188875	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140188875C>T	uc003lhi.2	+	0	2204	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.I701I|PCDHAC2_uc011daa.2_Silent_p.I701I	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	709					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATACCTGATCATTGCCATCT	0.657000														56			6		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320573	56320573	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56320573T>G	uc010ygf.2	-	4	2114	c.1403A>C	c.(1402-1404)aAc>aCc	p.N468T	NLRP11_uc002qlz.3_Missense_Mutation_p.N369T|NLRP11_uc002qmb.3_Missense_Mutation_p.N369T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	468	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GATCAGATAGTTGGGTACTGC	0.398000														56			22		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64716295	64716295	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:64716295G>A	uc001xha.1	-	6	1662	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	ESR2_uc001xgy.2_Silent_p.L398L|ESR2_uc001xgu.3_Silent_p.L398L|ESR2_uc001xgv.3_Silent_p.L398L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Silent_p.L398L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Silent_p.L398L|ESR2_uc010aqd.1_Intron	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	398	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTTGACACAGAGATATTCTT	0.428000														49			54		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029724	79029724	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79029724A>T	uc003kgc.3	+	1	5208	c.5136A>T	c.(5134-5136)gaA>gaT	p.E1712D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1712						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAATGAAGAAATTAAACCTT	0.423000														27			3		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47959800	47959800	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47959800C>T	uc002zjo.2	+	16	2115	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	DIP2A_uc011afy.1_Silent_p.S580S|DIP2A_uc011afz.1_Silent_p.S640S|DIP2A_uc002zjl.3_Silent_p.S644S|DIP2A_uc002zjm.3_Silent_p.S644S|DIP2A_uc010gql.3_Silent_p.S601S|DIP2A_uc002zjn.3_Silent_p.S644S|DIP2A_uc002zjp.1_Silent_p.S389S|DIP2A_uc002zjq.3_Silent_p.S36S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	644					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGTCGATCTCCTCCTGTGACG	0.597000														71			19		0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6559706	6559706	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6559706G>A	uc001qod.3	+	4	660	c.449_splice	c.e4-1	p.E150_splice	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Non-coding_Transcript|CD27-AS1_uc001qof.3_Intron|CD27-AS1_uc009zem.2_Non-coding_Transcript|TAPBPL_uc001qog.4_5'Flank|TAPBPL_uc001qoi.1_5'Flank	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	150					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGTTTTTCCAGAGATGCTGGA	0.582000														85			52		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586146	7586146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7586146C>T	uc010sge.2	-	2	295	c.269G>A	c.(268-270)gGa>gAa	p.G90E	CD163L1_uc001qsy.3_Missense_Mutation_p.G90E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	90	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAATGGACATCCAAGCTGTTT	0.473000														92			63		0	0	1	0	0
TIMM22	29928	broad.mit.edu	37	17	902026	902026	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:902026C>T	uc002fsc.3	+	1	272	c.246C>T	c.(244-246)gtC>gtT	p.V82V		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	82					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TAGGATTTGTCTTAGGAGGTG	0.473000														30			34		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48461454	48461454	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:48461454G>A	uc003csw.2	-	10	2511	c.2241C>T	c.(2239-2241)tcC>tcT	p.S747S	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.S747S|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	747	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCCAGGGGAAGATATGG	0.652000														19			12		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340700	220340700	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220340700C>A	uc010puk.1	-	25	3186	c.3022G>T	c.(3022-3024)Gag>Tag	p.E1008*	RAB3GAP2_uc021pjf.1_Nonsense_Mutation_p.E1008*|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Nonsense_Mutation_p.E588*	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1008					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACATCGAGCTCAAGGCTACAA	0.408000														48			11		0.000308642	0.000309797	1	1	0
GTSE1	51512	broad.mit.edu	37	22	46704370	46704370	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:46704370T>C	uc011aqy.2	+	3	504	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	79					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGGGGAGAAGTTCGTGGAGGT	0.557000														135			59		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:36049520C>T	uc003jjz.2	-	3	446	c.314G>A	c.(313-315)gGa>gAa	p.G105E	UGT3A2_uc011cos.2_Missense_Mutation_p.G71E|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	105						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAATTTTCCTCTGTAAGA	0.284000														16			4		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707903	26707903	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:26707903G>A	uc003acb.3	+	7	2047	c.1851G>A	c.(1849-1851)tgG>tgA	p.W617*	SEZ6L_uc003acd.3_Nonsense_Mutation_p.W617*|SEZ6L_uc011akd.2_Nonsense_Mutation_p.W617*|SEZ6L_uc003ace.3_Nonsense_Mutation_p.W617*|SEZ6L_uc011akc.2_Nonsense_Mutation_p.W617*|SEZ6L_uc003acc.3_Nonsense_Mutation_p.W617*|SEZ6L_uc003acf.1_Nonsense_Mutation_p.W390*|SEZ6L_uc010gvc.1_Nonsense_Mutation_p.W390*	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	617	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACCCATACTGGAATGACACAG	0.592000														137			50		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103645099	103645099	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:103645099G>A	uc003hwg.3	-	2	398	c.298C>T	c.(298-300)Ctt>Ttt	p.L100F	MANBA_uc011ces.2_Missense_Mutation_p.L100F	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	100					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACTCCCTCAAGAATCAAATTT	0.269000														29			6		0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49221400	49221400	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:49221400G>A	uc001rsl.2	+	12	1632	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	CACNB3_uc010sly.2_Silent_p.E378E|CACNB3_uc010slz.2_Silent_p.E390E|CACNB3_uc001rsk.2_Silent_p.E238E|CACNB3_uc021qxm.1_Silent_p.E350E	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	391					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGGCGAGGAGCACTCCCCCC	0.632000														33			17		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111748373	111748373	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111748373A>G	uc001tsa.2	+	14	1941	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	596						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P595H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCGGCCCAAGCCCTGGCGC	0.597000														81			51		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140992	104140992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:104140992C>T	uc001kux.2	+	38	5573	c.5279C>T	c.(5278-5280)cCa>cTa	p.P1760L	GBF1_uc001kuy.2_Missense_Mutation_p.P1756L|GBF1_uc001kuz.2_Missense_Mutation_p.P1757L	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1760	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCAGAGATTCCATCTGAGCTG	0.627000														49			15		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715170	55715170	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55715170A>G	uc010spi.2	+	0	787	c.787A>G	c.(787-789)Aaa>Gaa	p.K263E		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K263K(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACCCTCAGCAAAAGATAGAGT	0.433000														110			64		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844580	123844580	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:123844580G>A	uc001lfv.3	+	3	2925	c.2565G>A	c.(2563-2565)ggG>ggA	p.G855G	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.G855G|TACC2_uc010qtv.2_Silent_p.G855G	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	855						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGAAAATGGGAAAGAGACTT	0.507000														85			41		0	0	1	0	0
C17orf62	79415	broad.mit.edu	37	17	80407105	80407105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:80407105G>A	uc021ufq.1	-	1	360	c.26C>T	c.(25-27)aCc>aTc	p.T9I	C17orf62_uc002key.3_5'Flank|C17orf62_uc010dir.3_Missense_Mutation_p.T9I|C17orf62_uc021ufr.1_Intron|C17orf62_uc021ufs.1_Missense_Mutation_p.T9I|C17orf62_uc002kfb.4_Missense_Mutation_p.T9I|C17orf62_uc002kfc.4_Missense_Mutation_p.T9I|C17orf62_uc002kfd.4_5'UTR|C17orf62_uc002kfa.3_Missense_Mutation_p.T9I|C17orf62_uc002kfe.4_Intron|C17orf62_uc021uft.1_Missense_Mutation_p.T9I|C17orf62_uc021ufu.1_Intron|C17orf62_uc010dis.2_Missense_Mutation_p.T9I	NM_001193655	NP_001180586	Q9BQA9	CQ062_HUMAN	Homo sapiens chromosome 17 open reading frame 62 (C17orf62), transcript variant 6, mRNA.	9						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCGGGAGCTGGTGCGGGTCTC	0.647000														11			4		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103871	53103871	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:53103871C>T	uc003tpz.3	+	0	523	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	169										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cccAGGAGCTCCTGGACCCCT	0.711000														14			12		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47303127	47303127	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:47303127C>T	uc001ner.1	+	8	1482	c.1291_splice	c.e8-1	p.A431_splice	MADD_uc001neq.2_Splice_Site_p.A431_splice|MADD_uc001nev.1_Splice_Site_p.A431_splice|MADD_uc001nes.1_Splice_Site_p.A431_splice|MADD_uc001net.1_Splice_Site_p.A431_splice|MADD_uc009yln.1_Splice_Site_p.A431_splice|MADD_uc001neu.1_Splice_Site_p.A431_splice|MADD_uc001nez.2_Splice_Site_p.A431_splice|MADD_uc001new.2_Splice_Site_p.A431_splice|MADD_uc001nex.2_Splice_Site_p.A431_splice	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	431					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTTCCACAGGCCTTGGCCAGC	0.512000														43			13		0	0	1	0	0
SPAG4	6676	broad.mit.edu	37	20	34207622	34207622	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:34207622A>T	uc002xdb.1	+	9	1148	c.1031A>T	c.(1030-1032)gAg>gTg	p.E344V	SPAG4_uc010zvi.1_Missense_Mutation_p.E267V	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	344	SUN.				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CCCAGCGTGGAGCACACCGGA	0.637000														73			32		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29618381	29618381	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29618381G>A	uc001bru.3	+	16	2478	c.2349_splice	c.e16-1	p.P783_splice	PTPRU_uc009vtq.3_Splice_Site_p.G773_splice|PTPRU_uc009vtr.3_Splice_Site_p.G773_splice|PTPRU_uc001brw.3_Splice_Site_p.G773_splice	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	783	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCTCTCCAGGAAGCCGGTGA	0.632000														24			12		0	0	1	0	0
RPL19	6143	broad.mit.edu	37	17	37358611	37358611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:37358611C>T	uc002hrq.1	+	2	216	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C		NM_000981	NP_000972	P84098	RL19_HUMAN	Homo sapiens ribosomal protein L19 (RPL19), mRNA.	52					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GCTGATCATCCGCAAGCCTGT	0.567000														65			35		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48628957	48628957	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:48628957C>T	uc002ird.3	+	12	1803	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	SPATA20_uc002irc.3_Silent_p.F205F|SPATA20_uc002ire.3_Silent_p.F494F|SPATA20_uc002irf.3_Silent_p.F538F|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	538					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTGCCAAGTTCCTGAAGCGGC	0.612000														118			43		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846451	43846451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:43846451C>T	uc010skx.2	-	12	1808	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	603	TSP type-1 1.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATTACATGATCGAAATTTCAT	0.398000														20			8		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166226664	166226664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:166226664G>A	uc002udc.3	+	19	3994	c.3704G>A	c.(3703-3705)cGa>cAa	p.R1235Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1235Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1235Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1235					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTGAGCAGCGAAAAACCATT	0.318000														48			28		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75964559	75964559	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:75964559C>T	uc003kek.3	+	22	2955	c.2733C>T	c.(2731-2733)tcC>tcT	p.S911S	IQGAP2_uc010izv.2_Silent_p.S464S|IQGAP2_uc011csv.2_Silent_p.S407S|IQGAP2_uc003kel.3_Silent_p.S407S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	911					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAACAAGTCCACTAAATTTA	0.348000														31			9		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057043	180057043	+	Silent	SNP	G	A	A	rs140192529		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180057043G>A	uc003mlz.4	-	4	655	c.576C>T	c.(574-576)ctC>ctT	p.L192L	FLT4_uc003mma.4_Silent_p.L192L|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Silent_p.L192L|FLT4_uc011dgz.1_Silent_p.L192L|FLT4_uc011dha.1_Missense_Mutation_p.S176L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	192	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTGGACACGAGCATGCCCC	0.642000														86			13		0	0	1	0	0
NRIP2	83714	broad.mit.edu	37	12	2937127	2937127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:2937127C>T	uc001qlc.3	-	3	737	c.665G>A	c.(664-666)gGg>gAg	p.G222E	ITFG2_uc010sec.2_Intron|NRIP2_uc010sed.1_Missense_Mutation_p.G222E	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	222					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGTCTCCTGCCCCAGCTGTAG	0.612000														53			31		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:26714877G>A	uc001rhg.3	-	34	5056	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1547					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAATTCCACGATTTTTTGCT	0.323000														38			12		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:89953946G>A	uc003kju.3	+	20	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1535	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358000														38			29		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26655809	26655809	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:26655809C>T	uc001mqt.4	+	18	2077	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	ANO3_uc010rdr.2_Silent_p.F628F|ANO3_uc010rds.2_Silent_p.F483F|ANO3_uc010rdt.2_Silent_p.F498F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	644						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTCCTCTTCCAGTTTGTCA	0.403000														27			6		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562668	140562668	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140562668C>T	uc003liv.3	+	0	1689	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	178	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCTCATTTCCGGGTTCTAA	0.448000														19			12		0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19573399	19573399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:19573399G>A	uc003zoa.2	-	5	1450	c.1297C>T	c.(1297-1299)Cct>Tct	p.P433S	SLC24A2_uc003zob.2_Missense_Mutation_p.P416S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	433					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TTTTGTACAGGTTCTGAAGCA	0.418000														98			17		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742206	41742206	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:41742206C>T	uc003azw.3	+	13	1875	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	569					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TCACCTTCCTCTGCGAGGTAC	0.642000														35			19		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10908889	10908889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:10908889G>A	uc002yip.1	-	22	1824	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P468S|TPTE_uc002yir.1_Missense_Mutation_p.P448S|TPTE_uc010gkv.1_Missense_Mutation_p.P348S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	486	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGTATGTAGGAAGATTCTAA	0.264000														17			5		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49669702	49669702	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:49669702G>A	uc002efs.3	-	4	3659	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ZNF423_uc010vgn.2_Missense_Mutation_p.R1004C	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1121					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TCGGGGCAACGGAGGCCGGCA	0.721000														95			30		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366589	40366589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:40366589C>T	uc002rrx.3	-	8	2521	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.D828N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D825N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D820N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D797N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D797N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	833					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCACAGAATCTTTCAGGCCA	0.483000														33			20		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264412	46264412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:46264412C>T	uc002xtk.3	+	10	1720	c.1459C>T	c.(1459-1461)Cgt>Tgt	p.R487C	NCOA3_uc002xtl.3_Missense_Mutation_p.R487C|NCOA3_uc002xtn.3_Missense_Mutation_p.R487C|NCOA3_uc010ght.2_Missense_Mutation_p.R497C|NCOA3_uc002xtm.3_Missense_Mutation_p.R487C|NCOA3_uc010zyc.2_Missense_Mutation_p.R282C	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	487					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCTCGTAATCGTGGGAGTCC	0.413000														99			57		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557829	210557829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:210557829C>T	uc002vde.1	+	6	1183	c.935C>T	c.(934-936)cCc>cTc	p.P312L	MAP2_uc002vdc.1_Missense_Mutation_p.P312L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P308L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	312					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTTGATTCTCCCATGCCAAGT	0.448000														44			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057400	9057400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:9057400C>T	uc002mkp.3	-	2	30250	c.30046G>A	c.(30046-30048)Gaa>Aaa	p.E10016K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10018	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTTTTTTCCACAAAGAGA	0.438000														17			14		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558692	140558692	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140558692G>A	uc011dai.2	+	0	1322	c.1077G>A	c.(1075-1077)gaG>gaA	p.E359E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	359	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P358L(1)|p.E359Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATACCTGAGAATGCGCCTG	0.453000														183			25		0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100087728	100087728	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:100087728A>T	uc004egh.3	+	9	1095	c.1037A>T	c.(1036-1038)tAc>tTc	p.Y346F	CSTF2_uc010nnd.3_Missense_Mutation_p.Y366F|CSTF2_uc004egi.3_Missense_Mutation_p.Y329F	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	346	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCCAGAGGTTACTTGGGACCA	0.483000														4			22		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172725232	172725232	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:172725232G>A	uc002uhh.2	-	2	257	c.168C>T	c.(166-168)atC>atT	p.I56I	SLC25A12_uc010fqh.2_5'UTR|SLC25A12_uc010zdv.1_Non-coding_Transcript	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	56					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding	p.K55N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGAGCTGCACGATCTTTGGGT	0.393000														64			39		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916786	149916786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:149916786G>A	uc001etn.3	-	11	1858	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	501					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTTAGCCACAGAATCTGCTCT	0.562000														173			141		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857731	140857731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140857731C>T	uc003lkv.2	+	0	2163	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.P683L|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCTGCCCCCCGGGAGCAG	0.512000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		98			73		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151884415	151884415	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:151884415T>C	uc003wla.3	-	32	5159	c.4940A>G	c.(4939-4941)gAa>gGa	p.E1647G	MLL3_uc003wkz.3_Missense_Mutation_p.E708G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1647					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGTTGCCATTTCACCCAGAGC	0.438000			N		medulloblastoma									120			43		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587350	55587350	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55587350T>G	uc010rin.2	+	0	245	c.245T>G	c.(244-246)aTg>aGg	p.M82R		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCTCCCAAGATGTTGGTGAAC	0.398000														153			65		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647063	78647063	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:78647063G>T	uc001jxn.3	-	27	3849	c.3672C>A	c.(3670-3672)tcC>tcA	p.S1224S	KCNMA1_uc021ptu.1_Silent_p.S1116S|KCNMA1_uc001jxj.2_Silent_p.S1170S|KCNMA1_uc001jxk.1_Silent_p.S842S|KCNMA1_uc009xrt.1_Silent_p.S1015S|KCNMA1_uc001jxl.1_Silent_p.S849S|KCNMA1_uc001jxo.3_Silent_p.S1207S|KCNMA1_uc001jxm.3_Silent_p.S1166S|KCNMA1_uc001jxq.3_Silent_p.S1196S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1224					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTTTGTCCCGGGACTCCCTGG	0.542000														183			85		5.14759e-42	5.2782e-42	1	1	0
UBE3A	7337	broad.mit.edu	37	15	25616661	25616661	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:25616661A>T	uc001zaq.3	-	6	1429	c.669T>A	c.(667-669)aaT>aaA	p.N223K	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.N200K|UBE3A_uc001zas.3_Missense_Mutation_p.N220K|UBE3A_uc001zat.3_Missense_Mutation_p.N200K	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	223					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTTTTGCAAATTGTTGTCTC	0.413000														123			75		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9871027	9871028	+	Missense_Mutation	DNP	GG	AA	AA	rs141851512	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:9871027_9871028GG>AA	uc003btg.3	+	9	1978_1979	c.1502_1503GG>AA	c.(1501-1503)cgg>cAA	p.R501Q	TTLL3_uc003btd.4_Missense_Mutation_p.R562Q|TTLL3_uc003btc.2_Missense_Mutation_p.R145Q|TTLL3_uc003btf.4_Missense_Mutation_p.R233Q|TTLL3_uc010hco.1_Missense_Mutation_p.R437Q|TTLL3_uc003bth.4_Missense_Mutation_p.R289Q|TTLL3_uc011atj.2_Missense_Mutation_p.R437Q|TTLL3_uc003btj.4_Missense_Mutation_p.R289Q|TTLL3_uc003bti.4_Missense_Mutation_p.R289Q	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	501	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTCATTGACCGGATGCTGGACC	0.609000														121			46		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58604911	58604911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:58604911G>A	uc010tro.2	-	2	1478	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	C14orf37_uc001xdc.3_Missense_Mutation_p.S389L|C14orf37_uc001xdd.3_Missense_Mutation_p.S389L|C14orf37_uc001xde.3_Missense_Mutation_p.S389L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	389						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAAAGCAGGTGATCTCTCATT	0.532000														123			7		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144150751	144150751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:144150751C>T	uc003weq.3	-	8	722	c.619G>A	c.(619-621)Gat>Aat	p.D207N	TPK1_uc003weo.3_Missense_Mutation_p.D153N|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Missense_Mutation_p.D158N|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	207					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	GCAAGCACATCATTTGCTGTA	0.403000														72			23		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4870102	4870102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4870102G>A	uc010qyo.2	-	0	337	c.337C>T	c.(337-339)Cat>Tat	p.H113Y		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAAGACATGGATAAAAACC	0.567000														52			36		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977228	34977228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:34977228C>T	uc003zvq.3	+	5	1176	c.998C>T	c.(997-999)tCc>tTc	p.S333F	KIAA1045_uc003zvr.3_Missense_Mutation_p.S333F	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	333							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGCTCCTTCCTGCAGTGTC	0.642000														85			20		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182398999	182398999	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:182398999G>A	uc002unu.3	+	26	3548	c.2785_splice	c.e26-1	p.D929_splice	ITGA4_uc002unv.3_Splice_Site_p.D174_splice	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	929					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATTAAACAGGATGAGACTTC	0.358000														23			9		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832582	130832582	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:130832582C>T	uc010fmh.2	-	16	2863	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	821	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CAAACATGATCTGGGTCATCT	0.592000														213			86		0	0	1	0	0
TAPT1	202018	broad.mit.edu	37	4	16189852	16189852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:16189852G>A	uc010ied.1	-	4	820	c.739C>T	c.(739-741)Ctc>Ttc	p.L247F	TAPT1_uc011bxd.1_Intron|TAPT1_uc011bxe.1_Missense_Mutation_p.L136F	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	247						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						CAGACATAGAGAACAGCCATG	0.363000														71			47		0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971254	45971254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:45971254G>A	uc002zfi.1	-	0	135	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	30	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GTGCCGCAGGGGAGCTCACAG	0.687000														76			45		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27886810	27886810	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:27886810C>T	uc003xgm.4	-	16	2270	c.2127G>A	c.(2125-2127)agG>agA	p.R709R		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	709						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GGTGCTGCATCCTTTCCTGGG	0.572000														14			8		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404253	124404253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:124404253C>T	uc003vli.3	-	0	1429	c.778G>A	c.(778-780)Gga>Aga	p.G260R		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	260						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCGTAGGCTCCATAGGACTCC	0.597000														65			26		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101671377	101671377	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101671377G>A	uc003uys.4	+	3	302	c.175_splice	c.e3-1	p.D59_splice	CUX1_uc003uyw.3_Splice_Site_p.D59_splice|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Splice_Site_p.D59_splice|CUX1_uc003uyu.3_Splice_Site_p.D59_splice|CUX1_uc011kkn.2_Splice_Site_p.D22_splice|CUX1_uc003uyx.4_Splice_Site_p.D48_splice	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	48					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCCTGCTCCAGGATTTGCGCA	0.502000														58			26		0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032820	43032820	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:43032820G>A	uc003bcz.3	-	1	138	c.54C>T	c.(52-54)ttC>ttT	p.F18F	CYB5R3_uc011aps.2_Silent_p.F51F|CYB5R3_uc021wqn.1_5'UTR|CYB5R3_uc003bcy.3_5'UTR|CYB5R3_uc003bcx.3_5'UTR	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	18					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GACTGTACAGGAACCAGACTG	0.617000														35			17		0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579670	55579670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:55579670C>T	uc001nhw.1	+	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACCTGTGCTTCCCACCTCACA	0.522000														60			25		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144944101	144944101	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:144944101A>G	uc003zaa.1	-	0	3334	c.3321T>C	c.(3319-3321)acT>acC	p.T1107T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1107						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGGCCAGAAGTCTCATCCC	0.672000														23			9		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817115	2817115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2817115C>T	uc002crk.3	+	10	7135	c.6586C>T	c.(6586-6588)Cct>Tct	p.P2196S	SRRM2_uc002crj.1_Missense_Mutation_p.P2100S|SRRM2_uc002crl.1_Missense_Mutation_p.P2196S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2100S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2196	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCTCGGCCTCCTCCGTCCAT	0.577000														80			5		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621276	56621276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:56621276C>T	uc002iwq.2	-	0	458	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	91										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTTCTTGGTCCAGTCTCGGG	0.542000														50			61		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89385095	89385095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:89385095G>A	uc010upo.1	+	4	1128	c.754G>A	c.(754-756)Gag>Aag	p.E252K	ACAN_uc002bmx.3_Missense_Mutation_p.E252K|ACAN_uc010upp.1_Missense_Mutation_p.E252K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	252					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGGAGATGGAGGGTGAGCT	0.597000														73			30		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81232296	81232296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:81232296C>T	uc002fgh.1	-	6	1514	c.1514G>A	c.(1513-1515)gGg>gAg	p.G505E	PKD1L2_uc002fgj.3_Missense_Mutation_p.G505E	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	505	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCGGCAAATCCCAAATGGCTC	0.572000														37			9		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106610562	106610562	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:106610562G>A	uc021ser.1	-	1671		c.32009C>T								Parts of antibodies, mostly variable regions.																		AGAGTCTAAGGGACCCCCCAG	0.587000														63			48		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	675940	675940	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:675940G>T	uc021szt.1	+	5	606	c.384G>T	c.(382-384)ctG>ctT	p.L128L	RAB40C_uc021szu.1_Silent_p.L128L|RAB40C_uc021szv.1_Silent_p.L128L|RAB40C_uc002chq.3_Intron|RAB40C_uc002chr.3_Silent_p.L128L	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	128					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R127W(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GAAACCGGCTGCACCTGGCCT	0.642000														18			15		1.33834e-09	1.34931e-09	1	1	0
MAP7	9053	broad.mit.edu	37	6	136683614	136683614	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:136683614C>T	uc011edg.2	-	10	1839	c.1590G>A	c.(1588-1590)gaG>gaA	p.E530E	MAP7_uc011edf.2_Silent_p.E485E|MAP7_uc010kgu.3_Silent_p.E522E|MAP7_uc011edh.2_Silent_p.E485E|MAP7_uc010kgv.3_Silent_p.E522E|MAP7_uc010kgs.3_Silent_p.E354E|MAP7_uc011edi.2_Silent_p.E354E|MAP7_uc010kgq.2_Silent_p.E406E|MAP7_uc003qgz.3_Silent_p.E500E|MAP7_uc003qha.2_Silent_p.E463E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	500					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTCCCTCCTCTCCCTTTCTT	0.532000														125			51		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551083	165551083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:165551083C>T	uc002ucp.3	-	11	3155	c.2933G>A	c.(2932-2934)gGt>gAt	p.G978D	COBLL1_uc002ucq.3_Missense_Mutation_p.G940D|COBLL1_uc010zcw.2_Missense_Mutation_p.G1045D|COBLL1_uc010zcx.2_Missense_Mutation_p.G986D|COBLL1_uc002ucn.3_Missense_Mutation_p.G406D|COBLL1_uc002uco.3_Missense_Mutation_p.G709D	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1016										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGGAGCCTGACCGATGACATC	0.468000														42			15		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903440	5903440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:5903440C>T	uc002wmg.3	+	3	956	c.650C>T	c.(649-651)tCg>tTg	p.S217L	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	217						extracellular region	hormone activity	p.S217L(2)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGGCCAGATCGGAAACACAT	0.498000														29			16		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102826187	102826187	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:102826187G>A	uc001phl.3	-	1	185	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	52					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGATTCCCGCGAGATTTGTAG	0.463000														104			54		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87966182	87966182	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:87966182G>C	uc003plm.4	+	7	2876	c.2835G>C	c.(2833-2835)caG>caC	p.Q945H		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTCAATCAGGGGATTGAGG	0.433000														50			40		0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113765514	113765514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113765514C>T	uc010yxr.2	+	3	370	c.370C>T	c.(370-372)Cct>Tct	p.P124S		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	124					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TGTGGCTTTCCCTGGCTGGTT	0.507000														66			32		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1261118	1261118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:1261118G>A	uc001lta.3	+	27	3732	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1225	Cys-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.G1225R(2)|p.G1228R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGACAAGGACGGAAACTACTA	0.652000														24			3		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24250828	24250828	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:24250828C>T	uc003xdz.2	+	2	481	c.261C>T	c.(259-261)atC>atT	p.I87I	ADAMDEC1_uc010lub.2_Silent_p.I8I|ADAMDEC1_uc011lab.1_Silent_p.I8I	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	87					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAGAAGAAATCATTCTCTCCC	0.333000														67			19		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57476371	57476371	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:57476371G>A	uc009vzx.1	-	13	1985	c.1665C>T	c.(1663-1665)agC>agT	p.S555S	DAB1_uc001cyt.1_Silent_p.S553S|DAB1_uc001cyq.1_Silent_p.S553S|DAB1_uc001cyr.1_Silent_p.S469S|DAB1_uc009vzw.1_Silent_p.S537S|DAB1_uc001cys.1_Silent_p.S555S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	588					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCGCTATCTAGCTACCGGCCT	0.483000														78			83		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3846655	3846655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:3846655C>T	uc002wjw.4	+	6	1656	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	MAVS_uc002wjx.4_Missense_Mutation_p.P354L|MAVS_uc002wjy.4_Missense_Mutation_p.P193L	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	495					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCCCAGGCCACAAGCCGAC	0.677000														29			27		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205492641	205492641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:205492641C>T	uc001hcr.3	+	2	423	c.161C>T	c.(160-162)cCc>cTc	p.P54L	CDK18_uc009xbk.2_Non-coding_Transcript|CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_Silent_p.P74P|CDK18_uc001hcp.3_Missense_Mutation_p.P54L|CDK18_uc001hcq.3_Missense_Mutation_p.P54L|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'UTR	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	52							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGCAGAGACCCCCCGCAGGAG	0.682000														18			3		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994365	208994365	+	Missense_Mutation	SNP	C	T	T	rs145041511		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:208994365C>T	uc002vco.4	-	1	90	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	18	Beta/gamma crystallin 'Greek key' 1.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.E18K(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GTGGTGGTTTCGTAGCTGCGG	0.522000														169			72		0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142593624	142593624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:142593624C>T	uc011dbj.2	+	21	2362	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S721L|ARHGAP26_uc003lmw.3_Missense_Mutation_p.S684L	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	776	SH3.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.S776L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAACTTTCGTTCACAGCA	0.483000														10			6		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50326721	50326721	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:50326721C>T	uc002egd.1	+	3	940	c.672C>T	c.(670-672)atC>atT	p.I224I	ADCY7_uc002egb.1_Silent_p.I224I|ADCY7_uc002egc.2_Silent_p.I224I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	224					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCTGCGCATCGAGAAGCGCC	0.592000														112			30		0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110139	48110140	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:48110139_48110140CT>TC	uc001rpu.2	-	5	853_854	c.694_695AG>GA	c.(694-696)aga>GAa	p.R232E	ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.R191E|ENDOU_uc010slm.2_Missense_Mutation_p.R169E|AL831948_uc001rpv.3_5'Flank	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	232					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CATGATCTCTCTGAGGAAGGCG	0.579000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			41		0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84634289	84634289	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:84634289C>T	uc004eer.2	-	1	317	c.171G>A	c.(169-171)ggG>ggA	p.G57G	POF1B_uc004ees.3_Silent_p.G57G	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	57							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TGTTCATGGGCCCACTGTAGG	0.542000														7			18		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67237733	67237733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67237733C>T	uc002esa.3	+	19	2318	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	ELMO3_uc002esb.3_Missense_Mutation_p.P742S|ELMO3_uc002esc.3_Missense_Mutation_p.P593S|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	706					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCCCCCACCCCCCACCAACTT	0.642000														34			12		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758418	111758418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:111758418C>T	uc001tsa.2	+	16	2759	c.2605C>T	c.(2605-2607)Ccg>Tcg	p.P869S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	869						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTACTACCCGGCCTACGT	0.726000														17			6		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989598	5989598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:5989598C>T	uc010qzu.2	-	0	127	c.127G>A	c.(127-129)Ggg>Agg	p.G43R		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	43						integral to membrane|plasma membrane	olfactory receptor activity										GCATTGGCCCCCATGGCCAGG	0.567000														21			11		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51467517	51467517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:51467517C>T	uc001wyx.4	-	5	2113	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	TRIM9_uc001wyy.2_Missense_Mutation_p.E446K|TRIM9_uc001wyz.4_Missense_Mutation_p.E450K	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	450	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTACAACATTCCTCCAGCTGT	0.498000														30			30		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3227431	3227431	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:3227431C>T	uc021xkv.1	+	56	7954	c.7809C>T	c.(7807-7809)ccC>ccT	p.P2603P		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2603					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|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)		AGATCAACCCCGAGCGGGAGC	0.642000														31			4		0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247013	2247013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:2247013G>A	uc002lvg.3	+	6	660	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	AMH_uc002lvh.2_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	180					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGACCATTGCCTTCAAGGT	0.647000														30			32		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57838293	57838293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57838293C>T	uc010bfw.3	+	18	3822	c.3629C>T	c.(3628-3630)gCc>gTc	p.A1210V	CGNL1_uc002aeg.3_Missense_Mutation_p.A1210V|CGNL1_uc021smw.1_5'Flank	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1210						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CGTTTGAAAGCCATGAAGCGG	0.577000														37			13		0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101395790	101395790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:101395790G>A	uc022cas.1	-	0	514	c.514C>T	c.(514-516)Cca>Tca	p.P172S	TCEAL6_uc004eiq.3_Missense_Mutation_p.P172S	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TGGGCGAATGGATCCTGTACA	0.502000														2			17		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74995270	74995270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:74995270C>T	uc001xqa.3	-	11	2671	c.2284G>A	c.(2284-2286)Ggg>Agg	p.G762R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	762					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGCCCCGCTGCTCCTC	0.677000														25			26		0	0	1	0	0
BRD8	10902	broad.mit.edu	37	5	137498918	137498918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:137498918G>A	uc003lcf.1	-	14	2043	c.1988C>T	c.(1987-1989)cCt>cTt	p.P663L	BRD8_uc011cyl.2_Missense_Mutation_p.P442L|BRD8_uc021yea.1_Missense_Mutation_p.P553L|BRD8_uc003lcg.3_Missense_Mutation_p.P736L|BRD8_uc003lci.3_Missense_Mutation_p.P666L|BRD8_uc011cym.2_Missense_Mutation_p.P647L|BRD8_uc011cyn.1_Missense_Mutation_p.P622L	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	663					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCGCTCACAGGAGGTTCATT	0.517000														42			36		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136701038	136701038	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:136701038C>T	uc003eri.2	+	2	501	c.252C>T	c.(250-252)atC>atT	p.I84I	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_5'UTR	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	84	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACATCTGGATCCCCAGCAGCT	0.557000														43			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431916	179431916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179431916C>T	uc021vsy.1	-	274	71464	c.71239G>A	c.(71239-71241)Ggt>Agt	p.G23747S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17442S|TTN_uc021vta.1_Missense_Mutation_p.G17375S|TTN_uc021vtb.1_Missense_Mutation_p.G17250S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24674	Fibronectin type-III 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTGCCACCATCTTGAAGT	0.443000														85			41		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622518	38622519	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:38622518_38622519GG>AA	uc021wvo.1	-	15	3183_3184	c.3131_3132CC>TT	c.(3130-3132)ccc>cTT	p.P1044L	SCN5A_uc021wvk.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvl.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvm.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvn.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvp.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvq.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvr.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvs.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvt.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvu.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvv.1_Missense_Mutation_p.P1044L|SCN5A_uc021wvj.1_Missense_Mutation_p.P910L|SCN5A_uc021wvi.1_Missense_Mutation_p.P910L|SCN5A_uc021wvw.1_Missense_Mutation_p.P655L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1044					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCACACACACGGGCTCTGGATC	0.639000														29			17		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34089037	34089037	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:34089037C>T	uc001bxm.1	-	35	5832	c.5655G>A	c.(5653-5655)caG>caA	p.Q1885Q	CSMD2_uc001bxn.1_Silent_p.Q1845Q|CSMD2_uc001bxo.1_Silent_p.Q758Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1845	CUB 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTCCCAGTTCTGCTCTGTCA	0.502000														63			23		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88047467	88047467	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:88047467C>T	uc011ccz.2	+	13	3065	c.2790C>T	c.(2788-2790)tcC>tcT	p.S930S	AFF1_uc003hqj.4_Silent_p.S923S|AFF1_uc003hqk.4_Silent_p.S923S|AFF1_uc011cda.2_Silent_p.S561S	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	923						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGAAGGGCTCCAGAAGCTCCT	0.542000														34			12		0	0	1	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813768	88813768	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:88813768G>T	uc010iko.1	+	1	712	c.712G>T	c.(712-714)Gat>Tat	p.D238Y						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		agatgaggaggatgacagcag	0.388000														5			4		0.00909568	0.00912351	1	1	0
DUSP10	11221	broad.mit.edu	37	1	221912312	221912312	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:221912312G>A	uc001hmy.2	-	1	1012	c.775C>T	c.(775-777)Ctg>Ttg	p.L259L	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	259	Rhodanese.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCTCTCTTCAGGGACTCGAGG	0.483000														131			70		0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56600191	56600191	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56600191G>C	uc010eth.1	-	2	469	c.350C>G	c.(349-351)aCg>aGg	p.T117R		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CTTCTCGCCCGTGTGGATGCG	0.682000														12			9		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799435	141799435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:141799435G>A	uc003vwy.3	+	43	5138	c.5084G>A	c.(5083-5085)gGa>gAa	p.G1695E		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1695	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATGCAAGAGGAGAGTGGAAG	0.532000														88			24		0	0	1	0	0
CDRT1	374286	broad.mit.edu	37	17	15510940	15510940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:15510940C>T	uc002gor.1	-	11	2447	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K	CDRT1_uc002gov.4_Missense_Mutation_p.E394K|CDRT1_uc002gou.2_Missense_Mutation_p.E2K			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	394										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTTCTCTCCTCCATCAGGACC	0.463000														14			25		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72353073	72353073	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:72353073C>T	uc002llw.2	+	1	4850	c.4797C>T	c.(4795-4797)gtC>gtT	p.V1599V	ZNF407_uc010xfc.2_Silent_p.V1599V|ZNF407_uc010dqu.2_Silent_p.V1599V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGTGTCATGTCTGTGGGTGAG	0.463000														96			56		0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509798	86509798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:86509798G>A	uc011kha.2	-	21	3264	c.3079C>T	c.(3079-3081)Cca>Tca	p.P1027S	KIAA1324L_uc003uie.3_Missense_Mutation_p.P860S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.P913S|KIAA1324L_uc003uif.2_Missense_Mutation_p.P779S	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	1027						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CATATATTTGGGGATCTTGAG	0.353000														43			14		0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13525016	13525016	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:13525016G>A	uc003bxy.3	+	2	337	c.204G>A	c.(202-204)gaG>gaA	p.E68E	HDAC11_uc010heb.3_Silent_p.E40E|HDAC11_uc011aux.2_Intron|HDAC11_uc011auy.2_Silent_p.E40E	NM_024827	NP_079103	Q96DB2	HDA11_HUMAN	Homo sapiens histone deacetylase 11 (HDAC11), transcript variant 1, mRNA.	68	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						AGGCCTCGGAGGAGGACCTGC	0.637000														103			53		0	0	1	0	0
CARD10	29775	broad.mit.edu	37	22	37903859	37903859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:37903859C>T	uc003asx.1	-	5	1185	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Missense_Mutation_p.E104K|CARD10_uc003asy.1_Missense_Mutation_p.E390K	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	390					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTCTCAATCTCCTCCAGTTGG	0.612000														146			65		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485939	8485939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:8485939C>T	uc003zkk.3	-	27	3621	c.2878G>A	c.(2878-2880)Gat>Aat	p.D960N	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	960	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGTTGATATCCCTATAAAGA	0.468000										TSP Lung(15;0.13)				115			42		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266376	266376	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:266376C>T	uc021xka.1	-	3	270	c.270G>A	c.(268-270)ggG>ggA	p.G90G	ZNF732_uc011buu.1_Silent_p.G58G	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328000														23			6		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066061	87066061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:87066061G>A	uc002blz.1	+	17	2518	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	813					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.G813S(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCACTGAGCGGGGAAGATTTG	0.433000														56			33		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53038870	53038870	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53038870C>A	uc001sat.3	-	8	1886	c.1853G>T	c.(1852-1854)gGt>gTt	p.G618V		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	618	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGAGCTAGAACCCCCACCTCC	0.547000														90			32		1.59361e-14	1.61108e-14	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31322862	31322862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:31322862C>T	uc010dmg.1	+	11	3105	c.3050C>T	c.(3049-3051)tCc>tTc	p.S1017F	ASXL3_uc002kxq.2_Missense_Mutation_p.S724F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1017					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTCAGCTTTCCAAAATTGGG	0.433000														13			9		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60557983	60557983	+	Missense_Mutation	SNP	G	A	A	rs149409172		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:60557983G>A	uc001npz.1	+	1	271	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	59						integral to membrane	receptor activity	p.E59K(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CCTTCTTAAGGAGCTGGGGGT	0.622000														23			15		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451632	110451633	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110451632_110451633TG>AA	uc001pkz.1	-	15	2322_2323	c.2037_2038CA>TT	c.(2035-2040)gccatg>gcTTtg	p.M680L	ARHGAP20_uc001pky.1_Missense_Mutation_p.M657L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.M644L|ARHGAP20_uc001pla.1_Missense_Mutation_p.M644L|ARHGAP20_uc001plb.2_Missense_Mutation_p.M223L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	680					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGTGTGCACATGGCAGATGGGG	0.530000														37			16		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927093	130927093	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:130927093G>A	uc001uil.2	-	7	969	c.753C>T	c.(751-753)ttC>ttT	p.F251F	RIMBP2_uc001uim.3_Silent_p.F159F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AATGGTTGATGAAGTTCTGAT	0.607000														90			51		0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195594450	195594450	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:195594450G>A	uc003fvu.1	-	11	3217	c.2674C>T	c.(2674-2676)Ctg>Ttg	p.L892L	TNK2_uc003fvq.1_Silent_p.L299L|TNK2_uc003fvr.1_Silent_p.L417L|TNK2_uc003fvs.1_Silent_p.L924L|TNK2_uc003fvt.1_Silent_p.L970L|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	892	Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	ggcagcagcagaggcacaggc	0.706000														28			10		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49247283	49247283	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:49247283C>T	uc010zyt.2	-	1	365	c.114G>A	c.(112-114)cgG>cgA	p.R38R	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.R34R|FAM65C_uc002xvn.1_Silent_p.R34R	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	34										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						ACGCGATCCTCCGGCTCTGTG	0.667000														14			12		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445271	92445271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:92445271C>T	uc001dol.4	+	8	1662	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	BRDT_uc010osz.2_Missense_Mutation_p.S419F|BRDT_uc001dok.4_Missense_Mutation_p.S415F|BRDT_uc009wdf.3_Missense_Mutation_p.S342F|BRDT_uc010otb.2_Missense_Mutation_p.S369F|BRDT_uc010ota.2_Missense_Mutation_p.S369F|BRDT_uc001dom.4_Missense_Mutation_p.S415F	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGATGATTCTGAAGATGAG	0.393000														96			29		0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49912525	49912525	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49912525C>T	uc002pnm.2	+	13	1336	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	CCDC155_uc010emx.2_Silent_p.I350I	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	377						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GCTTGGAGATCGAGGCCATTC	0.597000														16			13		0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193053	42193053	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:42193053C>T	uc001zot.3	-	5	1479	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	472	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCACCATCTCCTTCTTGGCGT	0.582000														59			30		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74625730	74625730	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:74625730G>A	uc002lmi.3	+	17	3129	c.2931G>A	c.(2929-2931)aaG>aaA	p.K977K	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	977					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGCTTTAAGAAGTCCAGCC	0.488000														58			26		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2162876	2162876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2162876G>A	uc002cos.1	-	12	3283	c.3074C>T	c.(3073-3075)tCc>tTc	p.S1025F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S1025F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1025	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGCACTGTGGAGACCTGCAG	0.642000														67			6		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354002	98354002	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:98354002G>A	uc002syd.1	+	10	1563	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	ZAP70_uc002sye.1_Silent_p.L342L|ZAP70_uc002syf.1_Silent_p.L145L	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	452	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TGAAGTACCTGGAGGAGAAGA	0.622000														68			19		0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36902049	36902049	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:36902049G>A	uc003apn.4	-	0	529	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	FOXRED2_uc003apo.4_Nonsense_Mutation_p.Q141*|FOXRED2_uc003app.4_Nonsense_Mutation_p.Q141*	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	141					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGTTGTACTGGACACGGAGC	0.617000														57			36		0	0	1	0	0
BTG4	54766	broad.mit.edu	37	11	111368763	111368763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:111368763C>T	uc001plj.3	-	2	471	c.271G>A	c.(271-273)Gag>Aag	p.E91K	BTG4_uc001plk.3_Missense_Mutation_p.E91K	NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	Homo sapiens B-cell translocation gene 4 (BTG4), mRNA.	91					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		ATGGTCATCTCCTTCGGAAGT	0.403000														47			17		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273406	139273406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:139273406G>A	uc004chh.3	-	20	2882	c.2873C>T	c.(2872-2874)cCc>cTc	p.P958L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	958	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GGCTGCCGCGGGGGCCCCAGG	0.662000														8			9		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434647	79434647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:79434647G>A	uc001xun.3	+	10	2472	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.D786N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCATCAATGATGCTCTTCA	0.507000														37			38		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43784950	43784950	+	Silent	SNP	G	A	A	rs45475401	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:43784950G>A	uc001ciu.3	+	17	3144	c.2967G>A	c.(2965-2967)gaG>gaA	p.E989E	TIE1_uc010oke.2_Silent_p.E944E|TIE1_uc009vwq.3_Silent_p.E945E|TIE1_uc010okg.2_Silent_p.E634E|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	989	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGTCGGAGAGAACCTAGCCT	0.567000														65			26		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508577	123508577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:123508577G>A	uc003vlc.3	+	2	888	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	HYAL4_uc011knz.2_Missense_Mutation_p.G84R	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	84					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	p.R83R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAAGGCCAGGGGGCAAAATGT	0.408000														68			18		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28812360	28812360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:28812360G>A	uc002rmb.2	+	26	1903	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	PLB1_uc010ezj.2_Missense_Mutation_p.R609K|PLB1_uc002rmc.3_Missense_Mutation_p.R308K|PLB1_uc002rmd.1_Missense_Mutation_p.R130K	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	620	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATGACACAAGGGAAGATTTT	0.488000														81			27		0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122646962	122646962	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:122646962T>C	uc001pyi.4	+	1	557	c.197T>C	c.(196-198)gTt>gCt	p.V66A		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	66	UBA.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGAAGAAGTGTTCAGGCAGCA	0.403000														38			12		0	0	1	0	0
AOC4	90586	broad.mit.edu	37	17	41019659	41019659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:41019659G>A	uc002ibw.1	+	0	498	c.364G>A	c.(364-366)Gag>Aag	p.E122K	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		ACCTGCCCGGGAGGCACTGGC	0.657000														21			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411707	105411707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:105411707G>A	uc010axc.1	-	6	10201	c.10081C>T	c.(10081-10083)Cct>Tct	p.P3361S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3261S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3361						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACAGAAGGGAGCTGAATG	0.672000														85			79		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3141658	3141658	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:3141658G>A	uc001lxk.2	-	5	757	c.599C>T	c.(598-600)gCc>gTc	p.A200V	OSBPL5_uc010qxq.1_Intron|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.3_Missense_Mutation_p.A224V	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	200	PH.				Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CACCTTCACGGCCCAGACGGA	0.652000														7			9		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480250	73480250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:73480250G>A	uc003xzb.3	+	1	869	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	94					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P93S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGGCATCCAGGAGCCTTCACT	0.478000														60			44		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117304180	117304180	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:117304180C>T	uc001prh.1	-	27	5066	c.5064G>A	c.(5062-5064)aaG>aaA	p.K1688K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1628					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCCAAACTCTTTGCATCTG	0.512000														29			4		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101018124	101018124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:101018124C>T	uc001thu.3	+	9	1767	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	GAS2L3_uc009zty.3_Missense_Mutation_p.S514F|GAS2L3_uc001thv.3_Missense_Mutation_p.S410F	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	514					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTAAACCTTCTTTCCAGTCC	0.438000														44			32		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53803251	53803251	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53803251T>C	uc001scw.3	+	4	2047	c.1950T>C	c.(1948-1950)caT>caC	p.H650H	SP1_uc021qyf.1_Silent_p.H602H|SP1_uc010sog.2_Silent_p.H643H	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	650	VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TGCGCTGGCATACAGGCGAGA	0.532000														64			38		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480173	179480173	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179480173G>A	uc021vsy.1	-	207	41020	c.40795C>T	c.(40795-40797)Cga>Tga	p.R13599*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R7294*|TTN_uc021vta.1_Nonsense_Mutation_p.R7227*|TTN_uc021vtb.1_Nonsense_Mutation_p.R7102*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14526	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTGTTCGATCTCTCCAT	0.433000														186			79		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48967992	48967992	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48967992C>T	uc002pje.1	+	2	1674	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	KCNJ14_uc002pjf.1_Silent_p.P423P	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	423						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTAGCCCCCGAGTTCTCA	0.567000														82			34		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19959780	19959780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:19959780C>T	uc003cbl.4	-	3	1317	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	EFHB_uc003cbm.3_Missense_Mutation_p.G244E	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	374					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTTTGGTAATCCTGGTGCTTG	0.373000														338			142		0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23657659	23657659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:23657659C>T	uc002zww.3	+	22	4362	c.3766C>T	c.(3766-3768)Cct>Tct	p.P1256S	BCR_uc002zwx.3_Missense_Mutation_p.P1212S|BCR_uc011aiy.2_Missense_Mutation_p.P845S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1256					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GGAGGCCATCCCTGCCCCGGA	0.617000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									78			31		0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132000	59132000	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:59132000G>A	uc010rks.2	+	0	69	c.69G>A	c.(67-69)agG>agA	p.R23R		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P22S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATTTTCCCAGGATCATAAAAG	0.433000														46			11		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	170007562	170007562	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:170007562A>G	uc001ggv.3	-	4	657	c.386T>C	c.(385-387)gTt>gCt	p.V129A	KIFAP3_uc021pep.1_Missense_Mutation_p.V89A|KIFAP3_uc010ply.2_Missense_Mutation_p.V51A|KIFAP3_uc001ggw.2_Missense_Mutation_p.V85A	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	129					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGTTAGCAACTTCATCAAT	0.358000														133			51		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159458115	159458115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:159458115C>T	uc003qrz.3	-	9	1272	c.940G>A	c.(940-942)Gac>Aac	p.D314N	TAGAP_uc011eft.2_Missense_Mutation_p.D251N|TAGAP_uc003qsa.3_Missense_Mutation_p.D136N	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACATCAGGGTCGTTGCTGTCG	0.532000														119			45		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114499295	114499295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:114499295G>A	uc003kqs.3	-	1	727	c.218C>T	c.(217-219)tCa>tTa	p.S73L	TRIM36_uc011cwc.2_Missense_Mutation_p.S61L|TRIM36_uc003kqt.3_Intron	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	73						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.G72R(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGAGTTGTCTGATCCCACATC	0.443000														58			55		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712507	187712507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:187712507G>A	uc002upu.1	-	1	221	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	61					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAAACGTGAGGATTTCCTAGA	0.348000														54			19		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053555	176053555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:176053555C>T	uc010jke.1	-	1	723	c.329G>A	c.(328-330)gGc>gAc	p.G110D	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity	p.E109K(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTGGGAGCCAGGGGGAAA	0.642000														16			10		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885171	24885171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:24885171C>T	uc001wpf.4	+	8	4534	c.4216C>T	c.(4216-4218)Cct>Tct	p.P1406S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1406					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGCTCCACTCCCTCACCCAAG	0.582000														52			47		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84415548	84415548	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:84415548C>T	uc001djc.3	-	4	675	c.279_splice	c.e4+1	p.Q93_splice	TTLL7_uc001djb.3_Splice_Site|TTLL7_uc001djd.3_Splice_Site|TTLL7_uc001dje.3_Splice_Site|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Splice_Site	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	93	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AATTTCCTACCTGATAATTTT	0.333000														29			21		0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100892148	100892148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:100892148C>T	uc004aym.3	-	7	1011	c.895G>A	c.(895-897)Gag>Aag	p.E299K	CORO2A_uc004ayl.3_Missense_Mutation_p.E299K|CORO2A_uc004ayk.3_5'Flank	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	299					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GCGCTCACCTCGTAGTAGCGG	0.562000														37			57		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716920	153716920	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:153716920C>A	uc022cig.1	-	0	360	c.360G>T	c.(358-360)gtG>gtT	p.V120V	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Intron|SLC10A3_uc004flq.3_Silent_p.V120V|SLC10A3_uc004flp.3_Silent_p.V120V	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	120					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTATAGCACTCACGTTCTTGA	0.642000														20			40		7.63091e-17	7.72784e-17	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215862524	215862524	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:215862524G>A	uc002vew.3	-	22	3409	c.3189C>T	c.(3187-3189)acC>acT	p.T1063T	ABCA12_uc002vev.3_Silent_p.T745T|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1063					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGAGACACTGGTTAGGAAGC	0.363000														37			14		0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67576730	67576730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:67576730G>A	uc003xwn.3	-	0	2723	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	822					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCTTTAGGAGGAAACCCGTAT	0.388000														87			61		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	653569	653569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:653569G>A	uc001qii.1	+	3	416	c.416G>A	c.(415-417)aGg>aAg	p.R139K	B4GALNT3_uc001qij.1_Missense_Mutation_p.R41K	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	139						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CAGCAGCTCAGGAGGAACCTG	0.612000														140			76		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925085	48925085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48925085C>T	uc002pjc.4	+	9	2223	c.2135C>T	c.(2134-2136)aCc>aTc	p.T712I	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	712						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AAGTTTGGGACCGTGCCCAAC	0.602000														80			30		0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	169020267	169020267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:169020267C>T	uc002uea.3	-	3	714	c.554G>A	c.(553-555)aGa>aAa	p.R185K		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	185	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CTGACCGTTTCTGTGTAGATA	0.388000														35			22		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793453	21793453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21793453C>T	uc001wag.3	+	14	2278	c.2278C>T	c.(2278-2280)Ccc>Tcc	p.P760S	RPGRIP1_uc001wah.3_Missense_Mutation_p.P402S|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.P235S|RPGRIP1_uc010aim.3_Missense_Mutation_p.P143S|RPGRIP1_uc001wal.3_Missense_Mutation_p.P119S|RPGRIP1_uc001wam.3_Missense_Mutation_p.P77S	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	760					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCCCATAAAACCCAGCCTACA	0.527000														12			9		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:55447703G>A	uc002qih.4	-	5	2302	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552000														56			11		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39234776	39234776	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:39234776G>A	uc002ojd.1	-	0	339	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	10					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGAGCTGGATGGTGACCC	0.652000														62			64		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918201	50918201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:50918201G>A	uc002lfe.2	+	16	3248	c.2632G>A	c.(2632-2634)Gtg>Atg	p.V878M	DCC_uc010xdr.1_Missense_Mutation_p.V706M|DCC_uc010dpf.2_Missense_Mutation_p.V513M	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	878	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GACGTCTGAGGTGCGACTTTA	0.473000														77			36		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616188	4616188	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:4616188G>A	uc010qyi.2	+	0	920	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTGGAGGGAATATGGAGT	0.468000														95			30		0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112192	248112192	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:248112192C>T	uc001idt.1	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAACTGATTTCATCTTATTGG	0.378000														78			33		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351785	79351785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79351785C>T	uc021yaw.1	+	2	661	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	157	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CACAATCTCCCCAGGGCCTTT	0.567000														27			16		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107083416	107083416	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:107083416C>T	uc021ser.1	-	130		c.5754G>A								Parts of antibodies, mostly variable regions.																		CCACTCCAGTCCCTTCCCTGG	0.552000														63			35		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604304	3604304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:3604304C>T	uc010btn.3	-	8	2617	c.2206G>A	c.(2206-2208)Gat>Aat	p.D736N	NLRC3_uc010bto.1_5'UTR	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	736					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACCATCATCCCTAACGGTG	0.587000														40			4		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67161032	67161032	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:67161032C>T	uc001okr.3	+	3	393	c.300C>T	c.(298-300)tcC>tcT	p.S100S	RAD9A_uc021qmg.1_Silent_p.S24S	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	100			S -> A (in dbSNP:rs2066492).		DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTGCATCTCCCTGAATGGCC	0.602000								Other conserved DNA damage response genes						65			11		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558485	113558485	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:113558485G>A	uc010ljy.1	-	0	598	c.567C>T	c.(565-567)tcC>tcT	p.S189S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	189	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAATCTTAAAGGAGAACTGGT	0.328000														53			22		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41967546	41967546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:41967546G>A	uc010skn.2	+	9	2973	c.2965G>A	c.(2965-2967)Gaa>Aaa	p.E989K	PDZRN4_uc001rmq.4_Missense_Mutation_p.E731K|PDZRN4_uc009zjz.3_Missense_Mutation_p.E729K|PDZRN4_uc001rmr.3_Missense_Mutation_p.E616K	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	989							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAATATCATTGAACTGAGTCA	0.478000														22			13		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35600415	35600415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:35600415C>T	uc002hnm.3	-	21	2883	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	ACACA_uc002hnk.3_Missense_Mutation_p.E820K|ACACA_uc002hnl.3_Missense_Mutation_p.E840K|ACACA_uc002hnn.3_Missense_Mutation_p.E898K|ACACA_uc002hno.3_Missense_Mutation_p.E935K|ACACA_uc010cuz.3_Missense_Mutation_p.E898K	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	898					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTTGCAATTCTAGGAGAGGC	0.448000														192			99		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37006080	37006080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:37006080G>A	uc002oee.2	-	3	983	c.61C>T	c.(61-63)Cat>Tat	p.H21Y	ZNF260_uc010eey.2_Missense_Mutation_p.H21Y|ZNF260_uc002oef.2_Missense_Mutation_p.H21Y|ZNF260_uc002oed.2_Missense_Mutation_p.H21Y|ZNF260_uc021uti.1_Missense_Mutation_p.H21Y	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	21					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TCTCCAGTATGAATTTGATCA	0.353000														36			10		0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332505	76332505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:76332505G>A	uc003ket.3	+	3	1023	c.641G>A	c.(640-642)gGa>gAa	p.G214E	AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	214					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GAAAATACTGGACTGTATTTT	0.403000														54			31		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918103	51918103	+	Silent	SNP	C	T	T	rs145601049	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51918103C>T	uc002pwo.3	-	7	1812	c.1590G>A	c.(1588-1590)caG>caA	p.Q530Q	SIGLEC10_uc002pwp.3_Silent_p.Q472Q|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	530					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGATCCACTCTGGGCCCCAT	0.657000														64			60		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141607771	141607771	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:141607771G>A	uc002tvj.1	-	28	5811	c.4839C>T	c.(4837-4839)ttC>ttT	p.F1613F	LRP1B_uc010fnl.1_Silent_p.F795F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1613					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1612D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGATGCATCGAAGTCTATCA	0.373000										TSP Lung(27;0.18)				65			36		0	0	1	0	0
C15orf29	79768	broad.mit.edu	37	15	34455820	34455820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:34455820G>A	uc001zhp.3	-	1	218	c.58C>T	c.(58-60)Cat>Tat	p.H20Y	C15orf29_uc010ubz.2_Intron|C15orf29_uc010uca.1_Missense_Mutation_p.H20Y	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	20						nucleolus		p.H20N(2)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		TCAATGAAATGATCCTCAATC	0.279000														29			19		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156145008	156145008	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:156145008C>T	uc001fnl.3	+	12	1745	c.1566C>T	c.(1564-1566)acC>acT	p.T522T	SEMA4A_uc009wrq.3_Silent_p.T522T|SEMA4A_uc001fnm.3_Silent_p.T522T|SEMA4A_uc001fnn.3_Silent_p.T390T|SEMA4A_uc001fno.3_Silent_p.T522T	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	522	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.R521Q(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGTCCCGAACCTGTTGCCTCC	0.617000														304			142		0	0	1	0	0
F9	2158	broad.mit.edu	37	X	138619174	138619174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:138619174C>T	uc004fas.1	+	1	123	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	F9_uc004fat.1_Missense_Mutation_p.L32F	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	32					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TTCAGTTTTTCTTGATCATGA	0.294000														30			36		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117487313	117487313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:117487313C>T	uc001egv.1	+	2	568	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	144						Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGGCCGACTCCCTGCACGTG	0.721000														14			6		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161952	161161952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:161161952G>A	uc001fyt.4	-	7	2418	c.1990C>T	c.(1990-1992)Cgc>Tgc	p.R664C		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	664	Cys-rich.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCAATGATGCGATCACAGCCA	0.547000											OREG0013940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			53		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131848	40131848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:40131848C>T	uc001cdq.1	-	1	196	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	66					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGCTGCTCCTCGTCCATGCGA	0.582000														55			48		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149519172	149519172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:149519172G>A	uc010lpk.3	+	89	12967	c.12967G>A	c.(12967-12969)Ggc>Agc	p.G4323S	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Non-coding_Transcript|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4326	TSP type-1 21.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCGGCCCGGGCCTGGCCTC	0.721000														27			6		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36384808	36384808	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36384808G>A	uc001bzl.3	+	17	2631	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L	EIF2C1_uc001bzk.3_Silent_p.L731L|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	806	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGCCCGCCTGGTGGCTTTCC	0.572000														30			16		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10518398	10518398	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:10518398G>A	uc001min.1	+	9	1842	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	AMPD3_uc010rbz.1_Silent_p.G331G|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.G490G|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.G497G|AMPD3_uc009yfy.2_Silent_p.G490G	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	490					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACTTTGGGAAGATGCTGG	0.498000														66			33		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632412	237632412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:237632412C>T	uc001hyl.1	+	16	1753	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	545					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAGAGGAAATCGTAAAAACTG	0.378000														29			16		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154624117	154624117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:154624117G>A	uc003inq.3	+	2	277	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	TLR2_uc003inr.3_Missense_Mutation_p.E20K|TLR2_uc003ins.3_Missense_Mutation_p.E20K|TLR2_uc021xtl.1_Missense_Mutation_p.E20K	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	20					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCTCTCCAAGGAAGAATCCTC	0.478000														48			34		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57735982	57735982	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57735982G>A	uc002emi.3	+	4	728	c.639G>A	c.(637-639)ctG>ctA	p.L213L	CCDC135_uc002emj.3_Silent_p.L213L|CCDC135_uc002emk.3_Intron	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	213						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACGGCTCGCTGGACCTGTGCC	0.582000														77			11		0	0	1	0	0
BX648926	0	broad.mit.edu	37	17	72305561	72305561	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:72305561C>T	uc002jkh.1	-	0	369	c.174G>A	c.(172-174)agG>agA	p.R58R	DNAI2_uc002jkg.3_Intron|DNAI2_uc002jkf.3_Intron|DNAI2_uc010dfp.3_Intron|DNAI2_uc002jki.3_Intron					Homo sapiens mRNA; cDNA DKFZp686O0329 (from clone DKFZp686O0329).																		GCATCCAGGTCCTCAGGGAGC	0.622000														30			34		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180849	19180849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:19180849G>A	uc001bba.1	-	2	1116	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	372					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGTGTTGAAGGACAAGGTGGC	0.632000														19			14		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33021996	33021996	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33021996C>T	uc001rlj.4	-	4	1150	c.1035_splice	c.e4-1	p.G345_splice	PKP2_uc001rlk.4_Splice_Site_p.G345_splice|PKP2_uc010skj.2_Splice_Site_p.G345_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	345					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCTGCATTCCTAGACAAAC	0.532000														87			42		0	0	1	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330726	24330726	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:24330726T>G	uc011mjw.2	-	0	707	c.707A>C	c.(706-708)gAa>gCa	p.E236A		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	236										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						GAGGCACTGTTCCATCGGGTC	0.537000														23			52		0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487587	51487587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:51487587C>T	uc004dpl.3	+	0	1107	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	289					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TTTAGATGCCCCTGGCCACAA	0.443000														34			104		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74942837	74942837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:74942837G>A	uc002fdh.1	-	16	1783	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	WDR59_uc002fdi.3_Missense_Mutation_p.R561W|WDR59_uc002fdg.1_Missense_Mutation_p.R153W	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	561										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GACACCGCCCGATGCATTGTC	0.562000														51			35		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190569920	190569920	+	Missense_Mutation	SNP	C	T	T	rs150297860		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:190569920C>T	uc002uqw.2	+	7	1968	c.1880C>T	c.(1879-1881)cCt>cTt	p.P627L	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	627						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGGAAGGATCCTAGTTTGCTA	0.393000														96			58		0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99719914	99719914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:99719914G>A	uc003uto.3	+	1	254	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	TAF6_uc003utm.3_5'Flank|TAF6_uc003uti.3_5'Flank|TAF6_uc003utk.3_5'Flank|TAF6_uc011kji.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	51						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTACAGGCGGAACTGAGTCG	0.567000														117			45		0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126272230	126272230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:126272230C>T	uc003ejb.3	-	1	333	c.4G>A	c.(4-6)Gac>Aac	p.D2N		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	2										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GCACTGGAGTCCATCACTGAG	0.582000														164			109		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852230	97852230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:97852230C>T	uc011bgt.2	+	0	689	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	230			S -> T (in dbSNP:rs9849637).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAAAAGAAATCTGATAAAGGT	0.378000														26			26		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57918077	57918077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:57918077C>T	uc002aei.3	+	4	643	c.512C>T	c.(511-513)tCc>tTc	p.S171F	GCOM1_uc002aej.3_Missense_Mutation_p.S171F|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Missense_Mutation_p.S171F|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.S171F	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	171					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCATCAGATTCCATTGGCCTG	0.483000														36			19		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	995046	995046	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:995046C>T	uc021qss.1	+	18	6499	c.5856C>T	c.(5854-5856)atC>atT	p.I1952I	WNK1_uc001qio.4_Silent_p.I1692I|WNK1_uc021qst.1_Silent_p.I1944I|WNK1_uc001qip.4_Silent_p.I1445I|WNK1_uc001qir.4_Silent_p.I865I	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1692					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACCAGGCATCCCAACTACTG	0.493000														117			56		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502736	64502736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:64502736C>T	uc010ssp.1	+	15	1894	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	SRGAP1_uc001srv.2_Missense_Mutation_p.A550V	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	613	Rho-GAP.				axon guidance	cytosol		p.A613V(2)|p.A613A(1)|p.R612K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TATGAGAGGGCGCTTCACATC	0.443000														83			41		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140656	123140656	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:123140656T>C	uc003ieh.3	+	18	2454	c.2409T>C	c.(2407-2409)ctT>ctC	p.L803L	KIAA1109_uc003iei.1_Silent_p.L557L|KIAA1109_uc010ins.1_Silent_p.L147L|KIAA1109_uc003iej.1_Silent_p.L188L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	803					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCATCCACTTGCCTTGCGTC	0.403000														70			49		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31128377	31128377	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:31128377T>G	uc009yjk.1	-	0	131	c.62A>C	c.(61-63)cAa>cCa	p.Q21P	DCDC5_uc009yjl.1_5'UTR|DCDC5_uc001msu.2_Missense_Mutation_p.Q192P	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	77	Doublecortin 1.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CCAAATTTTTTGCTCATTCTT	0.423000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			13		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328327	80328327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:80328327C>T	uc003hlu.3	-	0	1046	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	343					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.S342T(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TTCAATGTCTCCTGAGGTCTC	0.433000														67			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710953	140710953	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140710953T>A	uc003lji.2	+	0	702	c.702T>A	c.(700-702)gaT>gaA	p.D234E	PCDHGC5_uc011dan.2_Missense_Mutation_p.D234E	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGTGGATGCAAATGACA	0.498000														41			8		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473133	175473133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:175473133C>T	uc003fit.3	+	12	2203	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	706					proteolysis	integral to membrane	peptidase activity	p.I705S(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATCCGCATCCGGATGCTGAA	0.478000														10			19		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027790	37027790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:37027790C>T	uc004ddl.2	+	0	1359	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	436										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTCGCGGATCTCATCTCCGC	0.612000														19			60		0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95738935	95738935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:95738935G>A	uc004asz.2	+	2	925	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	FGD3_uc004asw.2_Missense_Mutation_p.E133K|FGD3_uc004asx.2_Missense_Mutation_p.E133K	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	133					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGTGGGTGAGGAACCTGACTC	0.672000														10			14		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493534	27493534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:27493534G>A	uc002hdt.1	-	1	583	c.425C>T	c.(424-426)tCc>tTc	p.S142F	MYO18A_uc010csa.1_Missense_Mutation_p.S142F|MYO18A_uc002hdu.1_Missense_Mutation_p.S142F	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	142					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTACGCTGGGAGAAGGAAAA	0.622000														11			13		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850153	38850153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38850153G>A	uc002oih.4	+	13	1627	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CATSPERG_uc002oig.4_Missense_Mutation_p.E474K|CATSPERG_uc002oif.4_Missense_Mutation_p.E154K|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	514					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTTCCCCAAGGAACTGTCCAT	0.587000														52			27		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23366772	23366772	+	Silent	SNP	C	T	T	rs141889317		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:23366772C>T	uc002dln.3	+	3	914	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	246					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCAGATGATCCTGGCCTGCC	0.607000														59			43		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135102341	135102341	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:135102341G>A	uc004cbh.2	+	3	1739	c.963G>A	c.(961-963)aaG>aaA	p.K321K		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	321	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGTGCAAGAAGAATTTCCGCA	0.682000														4			19		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422911	37422911	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:37422911G>T	uc021ppc.1	+	4	616	c.517G>T	c.(517-519)Gtt>Ttt	p.V173F	ANKRD30A_uc001iza.1_Missense_Mutation_p.V173F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	229						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAGCAAAATGTTGACGTCTT	0.388000														114			69		1.74474e-33	1.78653e-33	1	1	0
SCNM1	79005	broad.mit.edu	37	1	151141550	151141550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:151141550C>T	uc001ewz.3	+	6	813	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	SCNM1_uc021oyk.1_Missense_Mutation_p.P193S|SCNM1_uc021oym.1_Non-coding_Transcript|SCNM1_uc021oyn.1_Missense_Mutation_p.P193S	NM_024041	NP_001191785	Q9BWG6	SCNM1_HUMAN	Homo sapiens sodium channel modifier 1 (SCNM1), transcript variant 1, mRNA.	228					RNA splicing|mRNA processing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTGATCTCCCCTTGGACTG	0.438000														98			39		0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918270	11918270	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:11918270C>T	uc001atj.3	-	2	490	c.388_splice	c.e2+1	p.V130_splice		NM_002521	NP_002512	P16860	ANFB_HUMAN	Homo sapiens natriuretic peptide B (NPPB), mRNA.	130					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	GGGGTGCTTACCTTTGCAGCC	0.597000														29			20		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329058	51329058	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:51329058C>T	uc002ptl.3	-	4	796	c.765G>A	c.(763-765)agG>agA	p.R255R	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Silent_p.R170R|KLK15_uc002ptn.3_3'UTR|KLK15_uc002pto.3_Silent_p.R254R|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_3'UTR|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	255					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ATAGTCAGTTCCTCTTCATGG	0.562000														45			29		0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732330	2732331	+	Missense_Mutation	DNP	TA	CT	CT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:2732330_2732331TA>CT	uc002klm.4	+	24	3305_3306	c.3116_3117TA>CT	c.(3115-3117)cta>cCT	p.L1039P	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1039					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTTGCAAGACTACAAATATTCA	0.371000														82			49		0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153486409	153486409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:153486409G>A	uc002tye.3	+	19	2907	c.2540G>A	c.(2539-2541)aGt>aAt	p.S847N	FMNL2_uc010fob.3_Missense_Mutation_p.S303N|FMNL2_uc002tyf.3_Missense_Mutation_p.S296N	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	847	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAACTTCAGAGTTTAGATCTG	0.403000														9			3		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	58001157	58001157	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:58001157G>A	uc002emt.2	-	1	99	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	CNGB1_uc010cdh.2_Missense_Mutation_p.P12S|CNGB1_uc002emu.2_Missense_Mutation_p.P12S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	12					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCCCTGGGGGCTGAGGCAGC	0.602000														34			29		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8496277	8496277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:8496277C>T	uc001mgi.1	-	0	1095	c.176G>A	c.(175-177)aGa>aAa	p.R59K	STK33_uc001mgj.1_Missense_Mutation_p.R59K|STK33_uc001mgk.1_Missense_Mutation_p.R59K|STK33_uc010rbn.1_Missense_Mutation_p.R18K|STK33_uc001mgl.3_Intron|STK33_uc009yfp.3_Intron	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	59						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTTTTTTTCTCTCCAGTGA	0.378000														19			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41049481	41049481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:41049481C>T	uc003jmj.4	-	13	1892	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E23K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	468			E -> V (in dbSNP:rs17198125).				binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AACAGGGGCTCCAGAGCTTCT	0.483000														26			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179418030	179418030	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179418030C>T	uc021vsy.1	-	283	82118	c.81893G>A	c.(81892-81894)aGa>aAa	p.R27298K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R20993K|TTN_uc021vta.1_Missense_Mutation_p.R20926K|TTN_uc021vtb.1_Missense_Mutation_p.R20801K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28225							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGGAGGTCTGCCTTTAAA	0.438000														117			65		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376113	2376113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2376113G>A	uc002cpy.1	-	4	929	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S	ABCA3_uc010bsk.1_Missense_Mutation_p.P73S|ABCA3_uc010bsl.1_Missense_Mutation_p.P73S|ABCA3_uc002cpz.1_Missense_Mutation_p.P73S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	73					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCTCCTGGCGGAGGGAAGGTG	0.582000														54			4		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183444	13183444	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:13183444C>T	uc010obg.2	-	1	672	c.429G>A	c.(427-429)tcG>tcA	p.S143S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	143						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GCTGGTGTTTCGAGGGCACTA	0.498000														302			66		0	0	1	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38741973	38741973	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:38741973C>A	uc002ohq.3	-	3	681	c.429G>T	c.(427-429)cgG>cgT	p.R143R	PPP1R14A_uc010efv.3_Silent_p.R116R	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A), transcript variant 1, mRNA.	143					regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGAGCAGTCCGGGCCCGGT	0.627000														9			9		0.0581538	0.0582921	1	1	0
WNT10A	80326	broad.mit.edu	37	2	219757847	219757847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:219757847G>A	uc002vjd.1	+	3	1571	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	370					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCCGGCTCGGATGGCTGCGG	0.687000														9			10		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762616	130762617	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:130762616_130762617CC>GT	uc003qcb.3	+	1	3427_3428	c.1049_1050CC>GT	c.(1048-1050)tcc>tGT	p.S350C	TMEM200A_uc003qca.3_Missense_Mutation_p.S350C|TMEM200A_uc010kfh.3_Missense_Mutation_p.S350C|TMEM200A_uc010kfi.3_Missense_Mutation_p.S350C|TMEM200A_uc021zfg.1_Missense_Mutation_p.S350C	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	350						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AGGAATAATTCCATTGGGGAGT	0.520000														61			31		0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412559	154412559	+	Silent	SNP	T	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:154412559T>G	uc011efe.2	+	4	1918	c.1395T>G	c.(1393-1395)acT>acG	p.T465T	OPRM1_uc011efd.2_Silent_p.T272T|OPRM1_uc011efc.1_Silent_p.T291T|OPRM1_uc003qpn.2_Silent_p.T372T|OPRM1_uc003qpo.1_Silent_p.T372T|OPRM1_uc011eff.1_Silent_p.T372T|OPRM1_uc011efg.1_Silent_p.T372T|OPRM1_uc011efi.2_Silent_p.T372T|OPRM1_uc011efh.1_Silent_p.T372T|OPRM1_uc003qpq.1_Silent_p.T372T|OPRM1_uc003qpr.2_Silent_p.T372T|OPRM1_uc003qpt.1_Silent_p.T372T|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.T272T|OPRM1_uc003qpu.2_Silent_p.T272T	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	372					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GTCAGAACACTAGAGACCACC	0.418000														44			31		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309289	43309290	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:43309289_43309290AG>GA	uc002yzw.3	-	13	2276_2277	c.2034_2035CT>TC	c.(2032-2037)ctctcc>ctTCcc	p.S679P	C2CD2_uc002yzs.3_Missense_Mutation_p.S148P|C2CD2_uc002yzt.3_Missense_Mutation_p.S295P|C2CD2_uc002yzu.3_Missense_Mutation_p.S511P|C2CD2_uc002yzv.3_Missense_Mutation_p.S524P	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	679				S -> P (in Ref. 2; CAH10536).		cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTGTGCCTGGAGAGCAGCTTCT	0.574000														38			13		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29611288	29611288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:29611288C>T	uc001bru.3	+	13	2354	c.2225C>T	c.(2224-2226)tCg>tTg	p.S742L	PTPRU_uc009vtq.3_Missense_Mutation_p.S742L|PTPRU_uc009vtr.3_Missense_Mutation_p.S742L|PTPRU_uc001brw.3_Missense_Mutation_p.S742L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	742					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCCCAGAGATCGGAGGAGATG	0.582000														79			23		0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125295200	125295200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125295200G>A	uc003eic.3	-	4	1236	c.499C>T	c.(499-501)Cct>Tct	p.P167S		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	167					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GACTTCAGAGGAGGATTATTC	0.343000														28			8		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384070	108384070	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:108384070T>C	uc001pkk.3	-	5	2275	c.2164A>G	c.(2164-2166)Aag>Gag	p.K722E	EXPH5_uc010rvz.2_Missense_Mutation_p.K566E|EXPH5_uc010rvy.2_Missense_Mutation_p.K534E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	722					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCACCTGCCTTGTTTGTCTGG	0.418000														39			13		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940091	36940091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:36940091G>A	uc010xtf.2	-	4	1183	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ZNF566_uc002oea.4_Missense_Mutation_p.R349C|ZNF566_uc010xte.2_Missense_Mutation_p.R349C|ZNF566_uc002oeb.4_Missense_Mutation_p.R349C|ZNF566_uc002oec.4_Missense_Mutation_p.R245C|ZNF566_uc010xtg.2_Missense_Mutation_p.R245C	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					GAGCCAGAACGAAAAGCCTTT	0.403000														32			27		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605128	171605128	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:171605128C>T	uc001ghu.3	-	2	1474	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	MYOC_uc010pmk.2_Silent_p.K426K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	484	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAAAGAGCTTCTTCTCCAGGG	0.478000														53			27		0	0	1	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113512	34113512	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:34113512A>G	uc001mvh.1	+	14	1803	c.1614A>G	c.(1612-1614)caA>caG	p.Q538Q	CAPRIN1_uc001mvg.3_Silent_p.Q538Q|CAPRIN1_uc001mvi.2_Silent_p.Q538Q|CAPRIN1_uc001mvj.1_Silent_p.Q457Q	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	Homo sapiens cell cycle associated protein 1 (CAPRIN1), transcript variant 1, mRNA.	538					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	RNA binding|protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TAAAACAGCAAAATCAGTACC	0.373000														36			16		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507525	42507525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:42507525C>T	uc002osj.1	-	17	2508	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	GRIK5_uc002osi.1_Missense_Mutation_p.E397K	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	825						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CATATGAATTCCATGACCGCC	0.592000														69			31		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858697	23858697	+	Missense_Mutation	SNP	C	T	T	rs34935550	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:23858697C>T	uc001wjv.3	-	27	3954	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1295			E -> Q.		adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTCCTTTTCCTCTAGCTGC	0.587000														42			41		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188172	7188172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:7188172G>A	uc003bqm.2	+	1	827	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E185K|GRM7_uc003bql.2_Missense_Mutation_p.E185K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	185					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.E185*(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AACGGCACCCGAGCTAAGTGA	0.512000														99			63		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272405	158272405	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:158272405C>T	uc002tzj.1	-	7	936	c.864G>A	c.(862-864)aaG>aaA	p.K288K	CYTIP_uc010zcl.1_Silent_p.K182K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	288	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATCCCCCTCCTTGGGGATAA	0.537000														52			38		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72343389	72343389	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:72343389C>T	uc009zrw.1	+	4	703	c.562C>T	c.(562-564)Cga>Tga	p.R188*	TPH2_uc001swy.2_Nonsense_Mutation_p.R98*	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	188					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)	CAATGTCTATCGACAGAGAAG	0.348000														56			30		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52525995	52525995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:52525995G>A	uc003ded.4	+	20	4146	c.4012G>A	c.(4012-4014)Gag>Aag	p.E1338K	NISCH_uc003dee.4_Missense_Mutation_p.E827K|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1338					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AAAGATGGCTGAGCCAGAGAA	0.622000														65			25		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47535924	47535924	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:47535924G>A	uc002zia.1	+	7	938	c.856_splice	c.e7-1	p.G286_splice	COL6A2_uc002zhz.1_Splice_Site_p.G286_splice|COL6A2_uc002zhy.1_Splice_Site_p.G286_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	286	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCACAGGGAGACCCGGGC	0.682000														10			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256676	140256676	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140256676C>A	uc003lic.2	+	0	1746	c.1619C>A	c.(1618-1620)gCc>gAc	p.A540D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.A540D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	554	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCCGGCGTGCCG	0.692000														80			89		4.85238e-36	4.97205e-36	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49691975	49691975	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:49691975G>A	uc002pmw.3	+	12	1929	c.1821G>A	c.(1819-1821)gaG>gaA	p.E607E	TRPM4_uc010emu.3_Silent_p.E607E|TRPM4_uc010yak.2_Silent_p.E71E|TRPM4_uc002pmx.3_Silent_p.E433E|TRPM4_uc010emv.3_Silent_p.E492E|TRPM4_uc010yal.2_Silent_p.E253E|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	607					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTGACGCTGAGGAGGCAGCAC	0.647000														47			18		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957301	49957301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:49957301C>T	uc004dow.1	-	4	2187	c.2063G>A	c.(2062-2064)gGg>gAg	p.G688E	AKAP4_uc004dou.1_Missense_Mutation_p.G679E|AKAP4_uc004dov.1_Missense_Mutation_p.G305E|AKAP4_uc010njp.1_Missense_Mutation_p.G510E	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	688					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTGCTTCATCCCACTGGTACA	0.473000														15			27		0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39918129	39918130	+	Missense_Mutation	DNP	GG	AA	AA	rs146204295	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:39918129_39918130GG>AA	uc003axz.3	+	2	858_859	c.578_579GG>AA	c.(577-579)agg>aAA	p.R193K	ATF4_uc011aol.1_Missense_Mutation_p.R105K|ATF4_uc003aya.3_Missense_Mutation_p.R193K|ATF4_uc021wpz.1_Non-coding_Transcript	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	193					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					GAAGGAGATAGGAAGCCAGACT	0.490000														45			25		0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33478945	33478945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:33478945C>T	uc001bwp.2	-	5	640	c.557G>A	c.(556-558)cGc>cAc	p.R186H	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Missense_Mutation_p.R138H|AK2_uc010ohq.2_Missense_Mutation_p.R178H|AK2_uc001bwo.2_Missense_Mutation_p.R186H|AK2_uc009vud.2_Missense_Mutation_p.R144H|AK2_uc010ohr.2_Missense_Mutation_p.R138H	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	186					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GGCTTGCAGGCGGATTTTCAA	0.532000														34			21		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29812539	29812539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:29812539C>T	uc001iut.1	-	14	3757	c.3004G>A	c.(3004-3006)Gaa>Aaa	p.E1002K	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.E576K	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1002					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCGCCCGTTCCAGGCTTCCT	0.517000														36			16		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055535	167055535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167055535G>A	uc010fpl.3	-	26	5922	c.5581C>T	c.(5581-5583)Cct>Tct	p.P1861S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1872						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACTTTGGAAGGATTTGCAGAC	0.433000														84			48		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158565364	158565364	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:158565364A>G	uc003qrc.2	-	6	718	c.576T>C	c.(574-576)ttT>ttC	p.F192F	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	192					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		GTGGTAGGAGAAAAAAGCGAA	0.338000														63			28		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248558	94248558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:94248558C>T	uc003kkx.2	-	8	1474	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	MCTP1_uc003kkv.2_Missense_Mutation_p.D271N|MCTP1_uc003kkw.2_Missense_Mutation_p.D225N|MCTP1_uc003kkz.2_Missense_Mutation_p.D153N|MCTP1_uc003kku.2_Missense_Mutation_p.D8N	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	492	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.S491S(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ACGTAGGGATCGCTCAACCCG	0.468000														45			41		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28906196	28906197	+	Silent	DNP	CC	TT	TT	rs145073993		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:28906196_28906197CC>TT	uc002dro.1	+	11	1525_1526	c.1341_1342CC>TT	c.(1339-1344)accctg>acTTtg	p.447_448TL>TL	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Silent_p.447_448TL>TL|ATP2A1_uc002drp.1_Silent_p.322_323TL>TL	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	447					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CACTCACCACCCTGGTGGAGAA	0.599000														33			23		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900743	151900743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:151900743C>T	uc022chj.1	-	0	58	c.58G>A	c.(58-60)Gga>Aga	p.G20R	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G20R|MAGEA12_uc022chi.1_Missense_Mutation_p.G20R|MAGEA12_uc004fgc.3_Missense_Mutation_p.G20R|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	20										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGCCTCTCCTTGGGCCTCA	0.622000														14			34		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362977	19362977	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:19362977G>A	uc011kyn.2	-	3	1433	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CSGALNACT1_uc011kyo.2_Silent_p.F123F|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.F123F|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	123					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GCGAGTGCAGGAAGGCCAGGA	0.592000														83			41		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250409	177250409	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:177250409C>T	uc001glf.3	+	7	2409	c.2097C>T	c.(2095-2097)gaC>gaT	p.D699D	FAM5B_uc001glg.3_Silent_p.D594D	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	699						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTATCCGGGACTTAATTCTCC	0.493000														108			75		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21036376	21036376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:21036376G>A	uc010sil.2	+	10	1587	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	SLCO1B3_uc001rek.3_Missense_Mutation_p.E508K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E508K|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	508	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAGTTGTGTGGAAGTAACTGG	0.318000														47			30		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36941030	36941030	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:36941030C>T	uc001caw.2	-	3	893	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CSF3R_uc001cav.2_Silent_p.L103L|CSF3R_uc001cax.2_Silent_p.L103L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	103	Ig-like C2-type.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGCCCCAGTTCAGGCAGCAGG	0.612000														61			55		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101726006	101726006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr13:101726006C>T	uc001vox.1	-	36	4316	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1376						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATAGCTTTTCCAGCCGAAGA	0.358000														19			30		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207345994	207345994	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207345994C>T	uc002vbq.3	+	2	694	c.471C>T	c.(469-471)gcC>gcT	p.A157A	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	157					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A157T(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGATTGAAGCCTTCGGCTCCA	0.368000														33			18		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:73787510G>A	uc011dyh.2	+	4	1165	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G273E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G273E|KCNQ5_uc010kat.3_Missense_Mutation_p.G273E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G273E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G273E|KCNQ5_uc011dyk.2_Missense_Mutation_p.G32E	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000														31			10		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64081797	64081797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:64081797C>T	uc001nzq.1	+	3	706	c.529C>T	c.(529-531)Cct>Tct	p.P177S	ESRRA_uc001nzr.1_Missense_Mutation_p.P177S|ESRRA_uc001nzs.1_Missense_Mutation_p.P177S|ESRRA_uc009ypn.1_Non-coding_Transcript|ESRRA_uc021qku.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	177					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGGCCCCTTCCCTGCTGGGCC	0.672000														5			5		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034838	16034838	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:16034838C>T	uc002nbu.2	-	6	738	c.702G>A	c.(700-702)aaG>aaA	p.K234K	CYP4F11_uc010eab.1_Silent_p.K234K|CYP4F11_uc002nbt.2_Silent_p.K234K	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	234					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCTGGTTTCTCTTTTCTACAA	0.512000														92			7		0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81052115	81052115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:81052115C>T	uc002kgh.3	+	3	856	c.731C>T	c.(730-732)cCc>cTc	p.P244L	METRNL_uc002kgi.3_Missense_Mutation_p.P162L	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	244						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GAGCCGGTGCCCGAGGGTGAC	0.652000														54			45		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672006	39672006	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr21:39672006A>G	uc021wjc.1	+	0	823	c.823A>G	c.(823-825)Aag>Gag	p.K275E	KCNJ15_uc002ywv.3_Missense_Mutation_p.K275E|KCNJ15_uc002yww.3_Missense_Mutation_p.K275E|KCNJ15_uc002ywx.3_Missense_Mutation_p.K275E	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	275					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CCTAAAGGAGAAGGAGTTTGA	0.537000														43			22		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	233990529	233990529	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:233990529G>A	uc010zmo.2	+	3	577	c.424G>A	c.(424-426)Gag>Aag	p.E142K	INPP5D_uc010zmp.2_Missense_Mutation_p.E141K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	142					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAGGCCAAGGAGGTTCCTTT	0.582000														16			17		0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21960511	21960511	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21960511T>C	uc001waz.3	+	5	970	c.867T>C	c.(865-867)gcT>gcC	p.A289A	TOX4_uc001way.3_Silent_p.A159A|TOX4_uc010tlu.2_Silent_p.A266A|TOX4_uc010tlv.2_Silent_p.A159A	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	289						PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CACTGGCTGCTTACAAAGACA	0.363000														56			59		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57073707	57073707	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:57073707C>T	uc021tiu.1	+	14	2943	c.2816C>T	c.(2815-2817)aCt>aTt	p.T939I	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.T744I|NLRC5_uc021tiw.1_Missense_Mutation_p.T744I|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	939					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCACAAAACTGTGATCTTC	0.522000														108			79		0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464396	17464396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:17464396C>T	uc001mnc.3	-	9	1627	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	ABCC8_uc010rcy.1_Missense_Mutation_p.E500K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	501	ABC transmembrane type-1 1.		E -> K (in HHF1).		carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGAGCATCTCGTTGGTCTGC	0.622000														50			39		0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979084	102979084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:102979084C>T	uc011mse.2	-	3	837	c.416G>A	c.(415-417)gGg>gAg	p.G139E	GLRA4_uc010nou.2_Missense_Mutation_p.G139E	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	139						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAGTTGGCCCCTTTCTCATT	0.527000														42			114		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053670	35053670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:35053670C>T	uc003ojx.4	+	21	3402	c.3260C>T	c.(3259-3261)tCc>tTc	p.S1087F	ANKS1A_uc011dst.2_Missense_Mutation_p.S628F|ANKS1A_uc010jvp.2_Missense_Mutation_p.S461F	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	1087	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACAAAATCTTCCAAACCGGTG	0.627000														26			20		0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101911949	101911949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101911949G>A	uc001kqn.4	-	10	1337	c.986C>T	c.(985-987)tCt>tTt	p.S329F	ERLIN1_uc001kqo.4_Missense_Mutation_p.S329F|ERLIN1_uc010qpm.2_Missense_Mutation_p.S245F	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	327					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGCCTCCTTAGAGGGGAGTGA	0.448000														20			13		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57603498	57603498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57603498G>A	uc001snd.3	+	79	12752	c.12286G>A	c.(12286-12288)Gac>Aac	p.D4096N		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4096					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D4096E(1)|p.D4096D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTTCAGCATCGACGTCTTTGA	0.562000														47			43		0	0	1	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210329	65210329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:65210329G>A	uc001xhp.2	+	16	3970	c.3931G>A	c.(3931-3933)Gaa>Aaa	p.E1311K	PLEKHG3_uc001xhn.1_Missense_Mutation_p.E1134K|PLEKHG3_uc001xho.1_Missense_Mutation_p.E1190K|PLEKHG3_uc010aqh.1_Missense_Mutation_p.E732K|PLEKHG3_uc001xhq.1_Missense_Mutation_p.E695K	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1190					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCAGCCGAAGGAAGAGGGTTC	0.617000														17			11		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56342132	56342132	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:56342132C>A	uc003haz.1	-	7	1272	c.346G>T	c.(346-348)Gag>Tag	p.E116*	CLOCK_uc003hba.1_Nonsense_Mutation_p.E116*	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	116	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GGACATACCTCTAACATTAAT	0.358000														34			7		1.12685e-05	1.13261e-05	1	1	0
CYP7B1	9420	broad.mit.edu	37	8	65528502	65528502	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:65528502T>C	uc003xvj.2	-	2	800	c.596A>G	c.(595-597)aAa>aGa	p.K199R		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	199					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACAATAACTTTTCCATATAT	0.328000														36			16		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39921212	39921212	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:39921212G>A	uc002hxq.2	-	5	1294	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.S339S|JUP_uc002hxs.2_Silent_p.S339S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	339					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGGGACACACGGATAGCACCT	0.592000														135			67		0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95869888	95869888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:95869888G>A	uc001tec.3	+	1	327	c.193G>A	c.(193-195)Gat>Aat	p.D65N	METAP2_uc010suv.2_Missense_Mutation_p.D65N|METAP2_uc001tef.3_Missense_Mutation_p.D64N|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	65					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AGCCTCAGTGGATGAAGTAGC	0.358000														17			15		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31330321	31330321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:31330321G>A	uc021sia.1	-	17	2730	c.2416C>T	c.(2416-2418)Cgc>Tgc	p.R806C	TRPM1_uc010azy.3_Missense_Mutation_p.R674C|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R789C|TRPM1_uc001zfm.3_Missense_Mutation_p.R767C	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	767					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATATGTGCGAAATTCCAAA	0.388000														23			18		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754750	76754750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr18:76754750C>T	uc002lmt.3	+	1	2759	c.2759C>T	c.(2758-2760)cCg>cTg	p.P920L	SALL3_uc010dra.3_Missense_Mutation_p.P527L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	920					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCAAGTCCCCGGGCCTGGGC	0.766000														7			10		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31917630	31917630	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:31917630T>C	uc003tcm.2	-	4	906	c.445A>G	c.(445-447)Aac>Gac	p.N149D	PDE1C_uc003tcn.1_Missense_Mutation_p.N149D|PDE1C_uc003tco.2_Missense_Mutation_p.N209D|PDE1C_uc003tcr.3_Missense_Mutation_p.N149D|PDE1C_uc003tcs.3_Missense_Mutation_p.N149D	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	149					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCAACCATGTTTGATGTCCGT	0.348000														44			25		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392222	78392222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:78392222C>T	uc001xui.3	+	8	1223	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.P307L|ADCK1_uc001xul.3_Missense_Mutation_p.P82L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	382	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GATCTCTACCCCTTGTTTGCC	0.602000														125			130		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105582226	105582226	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:105582226C>T	uc010swu.1	-	17	1696	c.1478_splice	c.e17-1	p.D493_splice	APPL2_uc010swt.2_Splice_Site_p.D444_splice|APPL2_uc001tlf.1_Splice_Site_p.D487_splice|APPL2_uc001tlg.1_Splice_Site_p.D241_splice|APPL2_uc009zuq.3_Splice_Site_p.D444_splice	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	487	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AAAAGAGAATCTGGAAGACAG	0.428000														23			15		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50691550	50691550	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50691550G>A	uc001jhs.4	-	8	1988	c.1834C>T	c.(1834-1836)Cga>Tga	p.R612*	ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_Nonsense_Mutation_p.R12*	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	612	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GCAACATCTCGAATTAGTTTC	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)						44			24		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12304631	12304631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:12304631C>T	uc001atv.3	+	4	545	c.404C>T	c.(403-405)tCa>tTa	p.S135L	VPS13D_uc001atw.3_Missense_Mutation_p.S135L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	135					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATTGGTATTCAGTTACCGCC	0.418000														62			40		0	0	1	0	0
KCTD16	57528	broad.mit.edu	37	5	143853255	143853255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:143853255G>A	uc003lnm.1	+	3	1494	c.865G>A	c.(865-867)Gat>Aat	p.D289N	KCTD16_uc003lnn.1_Missense_Mutation_p.D289N	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	289						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTCACACTGCGATTGCTGCTG	0.527000														77			10		0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3144438	3144438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:3144438C>T	uc011ask.2	-	4	793	c.149G>A	c.(148-150)tGg>tAg	p.W50*	IL5RA_uc010hbq.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbr.3_Nonsense_Mutation_p.W50*|IL5RA_uc010hbs.3_Nonsense_Mutation_p.W50*|IL5RA_uc011asl.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asm.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbt.2_Nonsense_Mutation_p.W50*|IL5RA_uc011asn.1_Nonsense_Mutation_p.W50*|IL5RA_uc010hbu.2_Nonsense_Mutation_p.W50*	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	50					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ATTTGGTTTCCATTGTAAAAG	0.338000														28			23		0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75925135	75925135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:75925135C>T	uc003yan.3	+	3	898	c.388C>T	c.(388-390)Ccg>Tcg	p.P130S	CRISPLD1_uc011lfk.2_5'UTR|CRISPLD1_uc011lfl.2_5'UTR	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	130						extracellular region		p.P130S(2)|p.P130L(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATATAGGCCCCCGACGTTTCA	0.378000														59			35		0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968672	72968672	+	RNA	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:72968672G>A	uc002ava.3	-	2		c.568C>T								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		GGGCTTCGATGATTCAAAGGG	0.512000														3			7		0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739273	46739273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:46739273G>A	uc021vgv.1	-	0	578	c.578C>T	c.(577-579)tCa>tTa	p.S193L	ATP6V1E2_uc002ruy.3_Missense_Mutation_p.S193L	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	193					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CAAGGTATTTGAAACCTTTAT	0.448000														94			33		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105001602	105001602	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:105001602G>T	uc003yls.3	+	14	2572	c.2331G>T	c.(2329-2331)atG>atT	p.M777I	RIMS2_uc003ylp.3_Missense_Mutation_p.M999I|RIMS2_uc003ylw.2_Missense_Mutation_p.M791I|RIMS2_uc003ylq.3_Missense_Mutation_p.M791I|RIMS2_uc003ylr.3_Missense_Mutation_p.M838I	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1061					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAGCCGAATGGACAGACATC	0.373000										HNSCC(12;0.0054)				126			53		1.3268e-25	1.35482e-25	1	1	0
VAV1	7409	broad.mit.edu	37	19	6828894	6828894	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:6828894G>A	uc002mfu.1	+	12	1345	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R	VAV1_uc010xjh.1_Silent_p.R384R|VAV1_uc010dva.1_Silent_p.R416R|VAV1_uc002mfv.1_Silent_p.R361R	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	416	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R416R(2)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGGTGGAACGGCGCTCCAAGA	0.612000														29			21		0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89559543	89559543	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:89559543C>T	uc003pmr.2	-	9	1255	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	RNGTT_uc003pms.2_Silent_p.E345E|RNGTT_uc011dzu.1_Silent_p.E285E|RNGTT_uc003pmt.2_Silent_p.E345E	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	345	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CAATAATCATCTCCTTGAAAG	0.259000														38			31		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551765	1551765	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:1551765A>G	uc010gai.3	-	3	869	c.770T>C	c.(769-771)gTt>gCt	p.V257A	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	257	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTGTTGAGTAACCTCCAAGGT	0.547000														51			16		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66436827	66436827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:66436827G>A	uc002eom.4	+	11	2266	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	704					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGGCCCGGGGAGATGGCAGC	0.716000														9			18		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121428058	121428058	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:121428058C>T	uc001pxx.3	+	18	2736	c.2607C>T	c.(2605-2607)atC>atT	p.I869I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	869					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTCACAATCGTCAATTCCT	0.522000														109			31		0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71017139	71017139	+	Silent	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:71017139C>A	uc001jpf.4	+	13	2122	c.1989C>A	c.(1987-1989)acC>acA	p.T663T	HKDC1_uc010qje.2_Silent_p.T526T|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	663					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.M662T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCATGATGACCTGTGGCTATG	0.438000														111			44		3.4597e-24	3.52909e-24	1	1	0
CBLB	868	broad.mit.edu	37	3	105378035	105378035	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:105378035G>A	uc003dwc.3	-	18	3050	c.2728C>T	c.(2728-2730)Ccg>Tcg	p.P910S	CBLB_uc003dwa.3_Missense_Mutation_p.P125S|CBLB_uc011bhi.2_Missense_Mutation_p.P888S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	910	Interaction with SH3KBP1.|Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTCCTGCGCGGTCGTGGTTTA	0.453000			Mis S		AML									66			26		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223557	55223557	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:55223557C>T	uc003tqk.3	+	7	1170	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EGFR_uc003tqh.3_Silent_p.V308V|EGFR_uc003tqi.3_Silent_p.V308V|EGFR_uc003tqj.3_Silent_p.V308V|EGFR_uc022adm.1_Silent_p.V308V|EGFR_uc010kzg.2_Silent_p.V263V|EGFR_uc022adn.1_Silent_p.V263V|EGFR_uc011kco.2_Silent_p.V255V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	308					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTCGTGCGTCCGAGCCTGTG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				54			25		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416454	48416454	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:48416454T>A	uc001jfa.1	-	0	400	c.240A>T	c.(238-240)aaA>aaT	p.K80N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	80					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CCACCCTGGTTTTGTCCTGCG	0.552000														55			33		0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53160487	53160487	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:53160487A>T	uc011dwx.2	-	1	382	c.11T>A	c.(10-12)tTt>tAt	p.F4Y	ELOVL5_uc003pbq.1_Missense_Mutation_p.F4Y|ELOVL5_uc003pbr.2_Missense_Mutation_p.F4Y|ELOVL5_uc003pbs.2_Missense_Mutation_p.F4Y|ELOVL5_uc003pbu.3_Missense_Mutation_p.F4Y|ELOVL5_uc011dwy.1_Non-coding_Transcript	NM_001242828	NP_001229757	Q9NYP7	ELOV5_HUMAN	Homo sapiens ELOVL fatty acid elongase 5 (ELOVL5), transcript variant 2, mRNA.	4					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TGATGCATCAAAATGTTCCAT	0.328000														16			14		0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220805599	220805599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:220805599C>T	uc009xdw.3	+	10	1663	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	MARK1_uc001hmn.4_Nonsense_Mutation_p.Q356*|MARK1_uc010pun.2_Nonsense_Mutation_p.Q356*|MARK1_uc001hmm.4_Nonsense_Mutation_p.Q334*	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	356	UBA.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.N355T(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTTAATAAATCAGAAGTATGA	0.303000														161			46		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126090297	126090297	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:126090297C>T	uc001lhp.3	-	7	1145	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	OAT_uc001lhr.3_Missense_Mutation_p.E200K|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	338					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	GTCTTTACCTCAAGGGCTGCG	0.448000														31			10		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1585293	1585293	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:1585293C>T	uc002fte.3	-	4	588	c.474G>A	c.(472-474)agG>agA	p.R158R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	158						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGAAATGCCTCCTATCTCTTT	0.507000														20			20		0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53166002	53166002	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53166002A>G	uc001sax.3	-	4	1067	c.1013T>C	c.(1012-1014)gTg>gCg	p.V338A		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	338	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGACAGAACCACAGACGTGTC	0.567000														55			18		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:130762727C>T	uc003qcb.3	+	1	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_uc003qca.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfh.3_Missense_Mutation_p.S387F|TMEM200A_uc010kfi.3_Missense_Mutation_p.S387F|TMEM200A_uc021zfg.1_Missense_Mutation_p.S387F	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000														51			27		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982421	7982421	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:7982421G>A	uc001mfv.1	-	1	755	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	246	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATCCAGGATGAACAGGAGCC	0.537000														34			15		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170349485	170349485	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:170349485A>G	uc010zdh.1	+	5	546	c.488A>G	c.(487-489)aAa>aGa	p.K163R	KBTBD10_uc002uet.3_Missense_Mutation_p.K163R|KBTBD10_uc010fpw.3_Missense_Mutation_p.K163R	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	422					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GTATATGATAAAATAAATGGA	0.328000														98			50		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122172	50122172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:50122172C>T	uc001jhd.3	-	0	109	c.29G>A	c.(28-30)gGc>gAc	p.G10D	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.G10D	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	10						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATCTTCTTGCCCTTGGGGCC	0.438000														34			21		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471374	146471374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:146471374G>A	uc003weu.2	+	1	625	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	37	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAAATGTGATGAGCCACTTGT	0.443000										HNSCC(39;0.1)				43			10		0	0	1	0	0
LOC401242	401242	broad.mit.edu	37	6	28829182	28829182	+	RNA	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28829182C>T	uc003nlq.2	-	1		c.1005G>A								Homo sapiens uncharacterized LOC401242 (LOC401242), non-coding RNA.																		GTAGGAGGGCCGTAGGCAGCC	0.493000														2			2		0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291539	141291539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:141291539G>A	uc022cfj.1	-	0	235	c.235C>T	c.(235-237)Ctt>Ttt	p.L79F	MAGEC2_uc004fbu.2_Missense_Mutation_p.L79F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	79						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCGGTAAGATTTGGTATC	0.512000										HNSCC(46;0.14)				13			26		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369783	123369783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:123369783G>A	uc003pzi.1	+	3	1450	c.581G>A	c.(580-582)cGa>cAa	p.R194Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	194	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TTCCCAGCGCGATTTGGAGGA	0.388000														99			41		0	0	1	0	0
NBPF7	343505	broad.mit.edu	37	1	120385063	120385063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:120385063C>T	uc010oxk.2	-	1	952	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	111						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CACCTGAGCTCCTCAGCTTGC	0.542000														171			122		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18892485	18892485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:18892485C>T	uc003zne.4	+	25	4894	c.4742C>T	c.(4741-4743)tCc>tTc	p.S1581F	ADAMTSL1_uc003znf.4_Missense_Mutation_p.S282F	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1581	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTGGGATCTCCACCCCTGTG	0.622000														11			9		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130289092	130289092	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130289092G>A	uc001qgg.4	-	1	1174	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	272	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CATCTTCTACGATCAGCACTT	0.527000														124			42		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002643	122002643	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:122002643C>T	uc003eew.4	+	6	2310	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	CASR_uc003eev.4_Silent_p.I614I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	614					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I614I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTTTGGGATCGCACTCACCC	0.537000														55			25		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174477	150174477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150174477G>A	uc003whj.3	+	4	1937	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	536						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAGCTGGGACGATTCACTGAA	0.502000														47			44		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180769	142180769	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:142180769C>T	uc011krz.2	-	1	139	c.90G>A	c.(88-90)caG>caA	p.Q30Q	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Silent_p.Q30Q|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TCTTCAGGACCTGGAATTTTG	0.547000														308			10		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539571	56539571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:56539571C>T	uc002qmj.3	+	6	1972	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	NLRP5_uc002qmi.3_Missense_Mutation_p.P639S	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	658						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGTCCCGTTCCCCTGGGGGT	0.587000														34			35		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823884	47823884	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:47823884C>T	uc002pgj.1	+	1	899	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	284					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GCTGGACTCCCTGTGTGTCTC	0.567000														79			58		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578167	4578167	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:4578167G>A	uc002fyi.4	-	11	1585	c.1359C>T	c.(1357-1359)gcC>gcT	p.A453A	PELP1_uc010vsf.2_Silent_p.A306A	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	453					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCTCTCCAGAGGCTCCTCCCT	0.602000														38			54		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067374	62067375	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:62067374_62067375GG>AA	uc002sbm.4	-	2	866_867	c.764_765CC>TT	c.(763-765)tcc>tTT	p.S255F	FAM161A_uc002sbn.4_Missense_Mutation_p.S65F|FAM161A_uc010ypo.2_Missense_Mutation_p.S255F|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.S146F	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	255					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAGATTTCATGGACTCTTCTTT	0.381000														39			19		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921567	167921568	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:167921567_167921568GG>AA	uc011cjq.1	-	2	375_376	c.318_319CC>TT	c.(316-321)cgccat>cgTTat	p.H107Y	SPOCK3_uc021xuf.1_Missense_Mutation_p.H98Y|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.H98Y|SPOCK3_uc011cjs.1_Missense_Mutation_p.H47Y|SPOCK3_uc003irj.1_Missense_Mutation_p.H95Y|SPOCK3_uc011cjt.1_Missense_Mutation_p.H6Y|SPOCK3_uc011cjp.2_Missense_Mutation_p.H95Y|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.H95Y|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	98					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CATACTTTATGGCGACTACATT	0.356000														67			17		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542979	28542979	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28542979G>A	uc003nlo.3	-	2	2121	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	501	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.F501F(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACATCTGAATGAACCACAAAA	0.433000														106			50		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785374	130785374	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:130785374A>G	uc001qgk.4	-	0	1009	c.461T>C	c.(460-462)gTt>gCt	p.V154A	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.V154A|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	154	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACTCTGGGCAACAGCATGACT	0.557000														34			21		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824440	13824440	+	Silent	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:13824440A>C	uc003jfd.2	-	38	6489	c.6447T>G	c.(6445-6447)gtT>gtG	p.V2149V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2149	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGTCATAATGAACCTAGAGAA	0.383000									Kartagener syndrome					23			30		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32942256	32942256	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:32942256A>T	uc010juh.3	+	1	1351	c.47A>T	c.(46-48)aAt>aTt	p.N16I	BRD2_uc003ocn.4_Missense_Mutation_p.N16I|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_5'UTR|BRD2_uc003ocq.4_Missense_Mutation_p.N16I|BRD2_uc021ywf.1_5'UTR	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	16					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGGGAAGGGAATGCAGGGTTG	0.512000														118			52		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163857	47163857	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47163857G>A	uc003cqv.3	-	2	2322	c.2236C>T	c.(2236-2238)Caa>Taa	p.Q746*	SETD2_uc003cqs.3_Nonsense_Mutation_p.Q757*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	757					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTATCTTGGTGTGGTGAC	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma									168			78		0	0	1	0	0
LRRC29	26231	broad.mit.edu	37	16	67242286	67242286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67242286G>A	uc002esd.3	-	1	1111	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	LRRC29_uc002ese.3_Missense_Mutation_p.L72F|LRRC29_uc002esf.3_Missense_Mutation_p.L72F|LRRC29_uc002esg.3_Missense_Mutation_p.L72F	NM_012163	NP_036295	Q8WV35	LRC29_HUMAN	Homo sapiens leucine rich repeat containing 29 (LRRC29), transcript variant 1, mRNA.	72										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGCAGCGTGAGCAGGGAGGGG	0.637000														49			55		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241753347	241753347	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:241753347T>A	uc009xgp.3	+	12	1443	c.1132T>A	c.(1132-1134)Ttt>Att	p.F378I	KMO_uc001hyy.3_Intron|KMO_uc009xgo.2_Missense_Mutation_p.F418I	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	378					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CTGGTTCATTTTTCAGAAGAA	0.393000														95			32		0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9517924	9517924	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:9517924A>G	uc001mhr.3	+	9	960	c.841_splice	c.e9+1	p.G281_splice	ZNF143_uc009yfu.3_Splice_Site_p.G280_splice|ZNF143_uc010rby.2_Splice_Site_p.G250_splice	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	281					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATTTGCAACAGGTAAAAGTA	0.463000														30			13		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846191	55846191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:55846191C>T	uc001sgz.1	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						AGAAATTTTTCCTTCTTAGAA	0.398000														63			40		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150553945	150553945	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150553945C>T	uc003why.1	+	2	4605	c.387C>T	c.(385-387)tcC>tcT	p.S129S	ABP1_uc003whz.1_Silent_p.S129S|ABP1_uc003wia.1_Silent_p.S129S	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	129					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGCACTGTCCCCCAGGCCTG	0.632000														78			79		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881595	69881595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:69881595G>A	uc001jnm.4	+	2	585	c.400G>A	c.(400-402)Gag>Aag	p.E134K	MYPN_uc001jnl.1_Missense_Mutation_p.E134K|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.E134K|MYPN_uc001jnp.1_Missense_Mutation_p.E134K|MYPN_uc009xps.3_Missense_Mutation_p.E134K|MYPN_uc009xpt.3_Missense_Mutation_p.E134K|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	134	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAGCCCCCAGGAGGCAAAAAG	0.428000														47			13		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989577	73989577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:73989577C>T	uc021rwe.1	-	2	628	c.280G>A	c.(280-282)Gac>Aac	p.D94N	HEATR4_uc021rwf.1_Missense_Mutation_p.D47N|HEATR4_uc010tub.1_Missense_Mutation_p.D94N	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TAGAGGTGGTCAAAGCTGTAC	0.512000														31			26		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050926	45050926	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:45050926G>A	uc001zuf.2	+	4	1582	c.687G>A	c.(685-687)ggG>ggA	p.G229G	TRIM69_uc001zug.1_Silent_p.G229G|TRIM69_uc001zuh.1_Silent_p.G70G|TRIM69_uc001zui.1_Silent_p.G25G|TRIM69_uc010bdy.1_Silent_p.G25G	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	229					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GGGAAGAGGGGAAAGCCTTGA	0.473000														34			26		0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55759024	55759024	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:55759024C>T	uc010kzl.3	-	2	358	c.258G>A	c.(256-258)ggG>ggA	p.G86G	FKBP9L_uc003tqt.3_5'Flank|FKBP9L_uc011kcs.2_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						CCAGCAGGGTCCCATCCAGAA	0.537000														23			10		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:161071386C>T	uc003qtl.3	-	2	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000														177			91		0	0	1	0	0
SLC25A37	51312	broad.mit.edu	37	8	23423648	23423648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:23423648C>T	uc003xdo.3	+	1	391	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	SLC25A37_uc003xdn.1_Missense_Mutation_p.P80S|SLC25A37_uc003xdp.3_Non-coding_Transcript|SLC25A37_uc003xdq.3_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	Homo sapiens solute carrier family 25, member 37 (SLC25A37), nuclear gene encoding mitochondrial protein, mRNA.	80					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.D79N(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		GAGTCCAGATCCCAAAGCCCA	0.478000														28			25		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47452835	47452835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:47452835G>A	uc003crf.1	+	19	3643	c.3547G>A	c.(3547-3549)Ggt>Agt	p.G1183S	PTPN23_uc011baw.1_Missense_Mutation_p.G1148S|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.G1053S|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1183					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.G1183fs*37(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCTTTCGGGGTCAGCTGGG	0.652000														34			14		0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982706	9982706	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:9982706T>C	uc003buf.3	+	5	732	c.633T>C	c.(631-633)tgT>tgC	p.C211C	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Silent_p.C211C|CRELD1_uc003bug.3_Silent_p.C211C	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	211					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						ATCTGGTATGTTCGGGTAGGT	0.632000														89			28		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48339556	48339556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:48339556G>A	uc002phq.4	+	2	361	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CRX_uc010elm.1_Non-coding_Transcript	NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	53					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E52*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCAACTGGAGGAGCTGGAGGC	0.632000														65			12		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100410732	100410732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:100410732C>T	uc003uwn.1	-	10	2346	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	EPHB4_uc003uwm.1_Missense_Mutation_p.E526K|EPHB4_uc010lhj.1_Missense_Mutation_p.E619K	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	619	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCAATCACCTCTTCAATCTTG	0.557000														119			43		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785865	11785865	+	Missense_Mutation	SNP	C	T	T	rs147703115		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:11785865C>T	uc010buu.1	-	8	1324	c.1262G>A	c.(1261-1263)cGg>cAg	p.R421Q	TXNDC11_uc002dbg.1_Missense_Mutation_p.R394Q	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	421					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.A420A(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCCACCCGCCGCAGGTGCTG	0.612000														38			31		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129134240	129134240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:129134240C>T	uc003emg.3	-	3	849	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						CAGAGGGACTCCGACCTGAGG	0.537000														16			14		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240221	237240221	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:237240221A>G	uc002vwb.2	-	17	2212	c.2178T>C	c.(2176-2178)atT>atC	p.I726I	IQCA1_uc002vvz.1_Silent_p.I718I|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.I677I	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	718							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CATTGCGTTCAATGATTTGCT	0.483000														23			7		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828856	125828856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:125828856C>T	uc003eim.1	-	19	2468	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.E659K|ALDH1L1_uc003ein.1_Missense_Mutation_p.E295K	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	760	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGGCAGTACTCCATCAGCTTC	0.622000														69			25		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616136	92616136	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:92616136T>C	uc001pdj.4	+	22	12531	c.12514T>C	c.(12514-12516)Ttc>Ctc	p.F4172L	FAT3_uc001pdi.4_Missense_Mutation_p.F612L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4172					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)				GGTGGTTCTCTTCATAGTCTT	0.572000										TCGA Ovarian(4;0.039)				8			5		0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965945	69965945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:69965945C>T	uc001suy.3	+	8	970	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	FRS2_uc001suz.3_Missense_Mutation_p.P154S|FRS2_uc009zrj.3_Missense_Mutation_p.P154S|FRS2_uc009zrk.3_Missense_Mutation_p.P154S	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA.	154					G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCCGATATCCCTCATTTGG	0.478000														56			38		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101842130	101842130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:101842130G>A	uc003uys.4	+	15	2103	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.R648Q	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	648					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTACCGAAACGAAGAAATGGG	0.453000														99			31		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54395022	54395022	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54395022G>A	uc002qcq.1	+	5	906	c.624G>A	c.(622-624)acG>acA	p.T208T	PRKCG_uc010eqz.1_Silent_p.T208T|PRKCG_uc010yef.1_Silent_p.T208T|PRKCG_uc010yeg.1_Silent_p.T208T|PRKCG_uc010yeh.1_Silent_p.T95T|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	208	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T208T(3)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGAACCTGACGAAACAGAAGA	0.522000														83			21		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732182	152732182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:152732182C>T	uc001fal.1	+	1	176	c.118C>T	c.(118-120)Cct>Tct	p.P40S	KPRP_uc021ozf.1_Missense_Mutation_p.P40S	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	40	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTTCAAGCCCCTTGTGAGAT	0.577000														145			63		0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20212610	20212610	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:20212610T>C	uc003cbu.3	-	6	1552	c.1397A>G	c.(1396-1398)aAa>aGa	p.K466R	SGOL1_uc003cbw.3_Missense_Mutation_p.K197R|SGOL1_uc003cbv.3_Missense_Mutation_p.K214R|SGOL1_uc003cbt.3_Missense_Mutation_p.K214R|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Missense_Mutation_p.K466R|SGOL1_uc003cbr.3_Missense_Mutation_p.K197R|SGOL1_uc003ccc.3_Missense_Mutation_p.K197R|SGOL1_uc021wtx.1_Missense_Mutation_p.K93R|SGOL1_uc021wty.1_Missense_Mutation_p.K76R|SGOL1_uc003ccb.3_Missense_Mutation_p.K214R|SGOL1_uc003cca.3_Missense_Mutation_p.K466R|SGOL1_uc003cby.3_Missense_Mutation_p.K197R|SGOL1_uc003cbx.3_Missense_Mutation_p.K214R|SGOL1_uc003cbz.3_Missense_Mutation_p.K466R	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	466					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGGGCTTGCTTTATTCTTTTT	0.458000														30			29		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152417610	152417610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:152417610C>T	uc021vrb.1	-	93	14040	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K	NEB_uc002txr.3_Missense_Mutation_p.E1137K|NEB_uc002txu.3_Missense_Mutation_p.E6372K|NEB_uc021vrc.1_Missense_Mutation_p.E6372K|NEB_uc010fnx.3_Missense_Mutation_p.E4659K|NEB_uc021vrd.1_Missense_Mutation_p.E4671K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4671					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.E4671*(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGATAATTTTCTTTATATTTT	0.343000														21			3		0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45920149	45920149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:45920149G>A	uc002pbs.2	-	5	678	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	ERCC1_uc002pbt.2_Missense_Mutation_p.P178S|ERCC1_uc002pbu.2_Missense_Mutation_p.P106S|ERCC1_uc002pbv.3_Missense_Mutation_p.P178S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	178					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		GCCTGCTGGGGATCTTTCTGG	0.522000								Nucleotide excision repair (NER)						23			16		0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076171	11076171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:11076171C>T	uc003sry.2	+	8	2181	c.1729C>T	c.(1729-1731)Cgt>Tgt	p.R577C	PHF14_uc011jxi.2_Missense_Mutation_p.R292C|PHF14_uc011jxj.2_Missense_Mutation_p.R292C	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TTCAGCTATTCGTAAACTTAT	0.473000														50			23		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	868150	868150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:868150G>A	uc002lqd.1	-	15	2736	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	862					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGTCCTGGGAGAGTGGTG	0.682000														7			12		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180158693	180158693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:180158693C>T	uc001gnz.3	+	8	1099	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	QSOX1_uc001gny.3_Missense_Mutation_p.P342S	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	342					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAGTATTTCCCTGGCCGGCC	0.502000														236			150		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129179	83129179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrX:83129179C>T	uc004eei.1	+	3	1484	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	CYLC1_uc004eeh.1_Missense_Mutation_p.S487F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	488					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAATGGAATCTGATTTGGAG	0.343000														4			9		0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27605022	27605022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:27605022G>A	uc002rkl.3	-	8	1612	c.1405C>T	c.(1405-1407)Ctt>Ttt	p.L469F	ZNF513_uc002rkj.3_5'Flank|ZNF513_uc002rkk.3_5'Flank|PPM1G_uc002rkm.3_Missense_Mutation_p.L250F	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	469					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AATAACCGAAGCTCCCCATTT	0.473000														81			26		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642283	196642283	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:196642283G>A	uc001gtj.4	+	1	474	c.234G>A	c.(232-234)agG>agA	p.R78R	CFH_uc001gti.4_Silent_p.R78R|CFH_uc009wyw.3_Silent_p.R78R|CFH_uc009wyx.3_Silent_p.R78R	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78	Sushi 1.		R -> G (in AHUS1).		complement activation, alternative pathway	extracellular space		p.L77S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCCATTAAGGAAATGTCAGA	0.333000														75			50		0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88719738	88719738	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:88719738G>A	uc002flg.1	-	8	1099	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	CYBA_uc002flb.3_5'Flank|CYBA_uc002fld.1_5'Flank|CYBA_uc010chx.1_5'Flank|CYBA_uc002fle.1_5'Flank|MVD_uc002flf.1_Silent_p.P233P	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	364					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGACCCCACCGGGGGTCGGCT	0.667000														32			3		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625297	140625297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140625297G>A	uc003lje.3	+	0	151	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	51	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D51delD(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCCAATGACCTAGGGCT	0.562000														65			16		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74474193	74474193	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:74474193A>G	uc002sko.1	-	13	2031	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.Y677H|SLC4A5_uc010ffc.1_Missense_Mutation_p.Y677H|SLC4A5_uc002skp.1_Missense_Mutation_p.Y613H|SLC4A5_uc002sks.1_Missense_Mutation_p.Y677H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	677						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCGCACTTGTAGGTAGTGATG	0.532000														162			104		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931935	55931935	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:55931935C>T	uc002adg.3	-	12	2277	c.2229G>A	c.(2227-2229)agG>agA	p.R743R		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	743	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATGCAGGCCTCCTCCAGTGCA	0.507000														117			62		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564423	140564423	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:140564423G>A	uc003liv.3	+	0	3444	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	763					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAAGTGAGTTCAAGTTCC	0.493000														70			55		0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890163	7890163	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:7890163G>A	uc001qtg.1	-	3	417	c.243C>T	c.(241-243)agC>agT	p.S81S	CLEC4C_uc001qth.1_Silent_p.S81S|CLEC4C_uc001qti.1_Silent_p.S50S	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	81					innate immune response	integral to membrane	sugar binding	p.W80*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGGGCAGCAGCTCCAATCTT	0.368000														54			32		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6076679	6076679	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:6076679C>T	uc001qnn.1	-	46	8110	c.7860G>A	c.(7858-7860)agG>agA	p.R2620R	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2620	VWFC 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGTGGTCTTCCTGCACTCCA	0.622000														139			80		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21873897	21873897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:21873897G>A	uc001war.2	-	13	3099	c.3034C>T	c.(3034-3036)Ctc>Ttc	p.L1012F	CHD8_uc001was.2_Missense_Mutation_p.L733F|CHD8_uc001wav.1_Missense_Mutation_p.L175F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1012					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTGTCTTGAGATCCCCAAAG	0.413000														183			13		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180921	61180921	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr14:61180921C>T	uc001xfc.3	-	3	1610	c.1550_splice	c.e3-1	p.G517_splice		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	517						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGAGATATTACCTAAAAAAAA	0.378000														16			17		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912973	55912973	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:55912973G>A	uc010qhy.1	-	14	2081	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDH15_uc010qhq.2_Silent_p.I562I|PCDH15_uc010qhr.2_Silent_p.I557I|PCDH15_uc021pqv.1_Silent_p.I557I|PCDH15_uc021pqw.1_Silent_p.I569I|PCDH15_uc010qht.2_Silent_p.I564I|PCDH15_uc021pqx.1_Silent_p.I557I|PCDH15_uc001jjv.1_Silent_p.I535I|PCDH15_uc021pqy.1_Silent_p.I557I|PCDH15_uc021pqz.1_Silent_p.I535I|PCDH15_uc010qhv.1_Silent_p.I557I|PCDH15_uc010qhw.1_Silent_p.I520I|PCDH15_uc010qhx.1_Silent_p.I557I|PCDH15_uc010qhz.1_Silent_p.I557I|PCDH15_uc010qia.1_Silent_p.I535I|PCDH15_uc001jju.1_Silent_p.I557I|PCDH15_uc010qib.1_Silent_p.I535I|PCDH15_uc001jjw.3_Silent_p.I557I	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	557	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTATTGATGATGAAGTCTC	0.502000										HNSCC(58;0.16)				51			30		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72421435	72421435	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:72421435G>A	uc001osu.3	-	9	1600	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	ARAP1_uc001osv.3_Silent_p.L471L|ARAP1_uc001osr.3_Silent_p.L231L|ARAP1_uc001oss.3_Silent_p.L226L|ARAP1_uc009yth.3_Silent_p.L226L|ARAP1_uc010rre.2_Silent_p.L226L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	471	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGCACCTCTAGATTCTTGTAG	0.592000														120			48		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42338150	42338150	+	Missense_Mutation	SNP	C	T	T	rs13306787		TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:42338150C>T	uc002igf.4	-	4	351	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E68K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	68			E -> K (in dbSNP:rs13306787).	E -> EE (in Ref. 7; AA sequence).	bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGTTCTTTTCGTCCATCACC	0.617000														63			33		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676284	113676284	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:113676284G>A	uc002tij.3	+	4	597	c.555G>A	c.(553-555)gaG>gaA	p.E185E	IL37_uc002tim.3_Silent_p.E124E|IL37_uc002tik.3_Silent_p.E164E|IL37_uc002til.3_Silent_p.E145E|IL37_uc002tin.3_Silent_p.E159E	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	185					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.E185Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGTAATGAGCCTGTTGGGG	0.493000														37			15		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253856	79253856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:79253856G>A	uc002snw.3	+	2	179	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	REG3G_uc002snx.3_Missense_Mutation_p.E32K|REG3G_uc010ffu.3_Missense_Mutation_p.E32K	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	32					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AACCCAGAAGGAACTGCCCTC	0.532000														29			10		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587379	158587379	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:158587379C>T	uc001fst.1	-	47	6748	c.6549_splice	c.e47-1	p.G2183_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2183					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGCAATGATCTAGTTAAGAA	0.358000														42			21		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269346	150269346	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150269346A>C	uc003whl.3	+	2	270	c.188A>C	c.(187-189)aAa>aCa	p.K63T	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.K77T	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	63							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTGCAGCAAAATCCATTACC	0.463000														64			23		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173209	126173209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:126173209C>T	uc003vlr.2	-	7	2538	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.D743N|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	743					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCAGAAATGTCACACTTGAGC	0.468000										HNSCC(24;0.065)				53			12		0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51718542	51718542	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:51718542C>T	uc021wyu.1	+	2	464	c.372C>T	c.(370-372)tcC>tcT	p.S124S	TEX264_uc021wyt.1_Intron|TEX264_uc010hls.3_Silent_p.S124S|TEX264_uc003dbk.4_Silent_p.S124S|TEX264_uc010hlt.3_5'UTR|TEX264_uc003dbm.4_Silent_p.S124S	NM_001243726	NP_001230655	Q9Y6I9	TX264_HUMAN	Homo sapiens testis expressed 264 (TEX264), transcript variant 4, mRNA.	124						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		AGGTGTTCTCCTTCCCGGCAC	0.592000														48			30		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143545880	143545880	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:143545880C>T	uc003ywm.3	+	0	504	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	107					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCGACTCCTTCCTCGAGTCCA	0.701000														11			3		0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55562455	55562455	+	Silent	SNP	T	C	C			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:55562455T>C	uc002eie.4	+	2	659	c.478T>C	c.(478-480)Tta>Cta	p.L160L		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	160					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TGTAGCTGGGTTACCTTCTAT	0.403000														75			58		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026979	79026979	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:79026979G>A	uc003kgc.3	+	1	2463	c.2391G>A	c.(2389-2391)ttG>ttA	p.L797L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	797						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTCAAAGTTGATCTCCAAAT	0.448000														70			5		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20781555	20781555	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:20781555C>A	uc010vba.2	+	0	250	c.175C>A	c.(175-177)Caa>Aaa	p.Q59K	ACSM3_uc002dhq.3_Missense_Mutation_p.Q67K|ACSM3_uc002dhr.3_Missense_Mutation_p.Q67K	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	67					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGTCCTGGACCAATGGACTGA	0.438000														22			18		1.90627e-21	1.94114e-21	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76472608	76472608	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:76472608C>T	uc003yaq.3	+	9	1282	c.1012C>T	c.(1012-1014)Cat>Tat	p.H338Y	HNF4G_uc003yar.3_Missense_Mutation_p.H375Y	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	338					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCATCTCCATCATCCAATGCA	0.393000														44			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428646	179428646	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:179428646A>G	uc021vsy.1	-	274	74734	c.74509T>C	c.(74509-74511)Tac>Cac	p.Y24837H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y18532H|TTN_uc021vta.1_Missense_Mutation_p.Y18465H|TTN_uc021vtb.1_Missense_Mutation_p.Y18340H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25764	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATGATGTAATGTGAAATA	0.453000														66			35		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885003	29885003	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr22:29885003G>A	uc003afo.3	+	3	1445	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	KIAA0845_uc003afp.3_5'Flank	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	458	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGATTGTGGAGGAACAGACAG	0.483000														31			14		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17314703	17314703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:17314703G>A	uc001baa.2	-	24	2979	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	ATP13A2_uc001bac.2_Missense_Mutation_p.S886L|ATP13A2_uc001bab.2_Missense_Mutation_p.S925L	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	930					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GACGCTGAACGAAGTGTCAAG	0.607000														66			26		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891662	70891662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:70891662C>T	uc002ezr.3	-	71	12389	c.12238G>A	c.(12238-12240)Gaa>Aaa	p.E4080K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4081										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGAGAGGTTCGGTAGTTTTG	0.483000														84			19		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560283	33560283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:33560283G>A	uc001rll.1	-	2	815	c.518C>T	c.(517-519)tCc>tTc	p.S173F	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	173						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTTCGGAAGGAACTGTGGCT	0.438000														79			40		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035986	110035987	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:110035986_110035987CC>TT	uc010rwc.2	+	5	2179_2180	c.2179_2180CC>TT	c.(2179-2181)ccc>TTc	p.P727F	ZC3H12C_uc009yxw.3_Missense_Mutation_p.P726F|ZC3H12C_uc010rwd.2_Missense_Mutation_p.P727F|ZC3H12C_uc001pkr.4_Missense_Mutation_p.P695F	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	726							endonuclease activity|nucleic acid binding|zinc ion binding	p.P726P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGGCGACTACCCCTCTCCTCCA	0.584000														108			46		0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213227	28213227	+	Silent	SNP	A	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:28213227A>G	uc003nks.1	-	4	1549	c.1305T>C	c.(1303-1305)aaT>aaC	p.N435N	ZKSCAN4_uc011dlb.1_Silent_p.N280N	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCCACACATATTGCACTGGT	0.488000														76			37		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89260232	89260232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:89260232C>T	uc002fmt.3	+	12	2139	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	688					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCGCCACTTCGCAGAGATGC	0.682000														14			3		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679272	87679272	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:87679272G>A	uc003ydx.3	-	5	781	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	CNGB3_uc010maj.3_Nonsense_Mutation_p.Q107*	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	245					signal transduction|visual perception	integral to membrane	cGMP binding	p.Q245E(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTGCGGTTTGATATGGGAAG	0.433000														50			27		0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45681379	45681379	+	Silent	SNP	G	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:45681379G>T	uc002ilr.4	+	15	2062	c.1839G>T	c.(1837-1839)gtG>gtT	p.V613V	NPEPPS_uc010wkt.2_Silent_p.V609V|NPEPPS_uc010wku.2_Silent_p.V577V|NPEPPS_uc010wkv.2_Silent_p.V167V|NPEPPS_uc002ils.1_Silent_p.V46V	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	613					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	p.P612L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGCCCCCTGTGGATCGACTTG	0.428000														49			33		7.63091e-17	7.72784e-17	1	1	0
PKP2	5318	broad.mit.edu	37	12	32994000	32994000	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:32994000G>A	uc001rlj.4	-	6	1765	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	PKP2_uc001rlk.4_Silent_p.L506L|PKP2_uc010skj.2_Silent_p.L506L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	550					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCAAAATCGAGCAAACCAT	0.438000														125			66		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778828	36778828	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:36778828G>A	uc003cgi.2	-	1	1814	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	441	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTATGATGGCGTCAAAAAGGT	0.507000														59			31		0	0	1	0	0
RBMY2FP	159162	broad.mit.edu	37	Y	24457559	24457559	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chrY:24457559C>T	uc004fvc.3	+	2	243	c.127C>T	c.(127-129)Cga>Tga	p.R43*	RBMY1F_uc004fvd.3_Intron|RBMY1F_uc011nbh.2_Intron					Homo sapiens RNA binding motif protein, Y-linked, family 2, member F pseudogene (RBMY2FP), non-coding RNA.																		GATAAAGGATCGAACCAGCAA	0.353000														11			6		0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335653	180335653	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr5:180335653C>T	uc003mmp.3	+	1	351	c.117C>T	c.(115-117)tcC>tcT	p.S39S	BTNL8_uc003mmq.3_Silent_p.S39S|BTNL8_uc010jll.3_Silent_p.S39S|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	39	Ig-like V-type 1.					integral to membrane		p.S39C(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCATTCTCCTGTTTCCTGT	0.557000														27			29		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535704	69535704	+	Silent	SNP	C	T	T	rs149099509	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr4:69535704C>T	uc021xow.1	-	0	791	c.633G>A	c.(631-633)agG>agA	p.R211R		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	211					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TATTTTTTATCCTCTCCATGA	0.338000														96			42		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671489	111671489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:111671489G>A	uc010hqa.3	+	10	3113	c.2702G>A	c.(2701-2703)cGa>cAa	p.R901Q	PHLDB2_uc003dyc.3_Missense_Mutation_p.R885Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R858Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R901Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R858Q|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	901						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACTTTGCCTCGAAAGAAAACC	0.448000														37			27		0	0	1	0	0
NVL	4931	broad.mit.edu	37	1	224495718	224495718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:224495718G>A	uc001hok.3	-	5	652	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NVL_uc001hol.3_Missense_Mutation_p.P91L|NVL_uc010pvd.2_Intron|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	197						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TGGCTTCTTAGGATTACTTTT	0.348000														66			17		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	404129	404129	+	Missense_Mutation	SNP	G	A	A	rs79659860	byFrequency	TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:404129G>A	uc021qbk.1	+	11	2338	c.2309G>A	c.(2308-2310)cGg>cAg	p.R770Q	PKP3_uc001lpc.3_Missense_Mutation_p.R755Q	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	755					cell adhesion	desmosome|nucleus	binding	p.R755L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGAAGAAGCGGGACAGGTAG	0.612000														64			19		0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	A	A			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:1152973G>A	uc001adh.4	-	6	1337	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	336	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642000														45			25		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866180	131866180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:131866180C>T	uc003vra.4	-	17	3681	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1151	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCAGGATTCCTGAGGGACC	0.577000														215			71		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167159615	167159615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:167159615C>T	uc010fpl.3	-	6	1227	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	SCN9A_uc002udr.1_Missense_Mutation_p.E167K|SCN9A_uc002uds.1_Missense_Mutation_p.E167K|SCN9A_uc002udt.1_Missense_Mutation_p.E167K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	296						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S295S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAGTCTTCTTCACTCTCTAGG	0.308000														7			5		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138400	203138400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:203138400C>T	uc001gzh.1	-	7	1270	c.1211G>A	c.(1210-1212)aGt>aAt	p.S404N		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	404	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	p.C403Y(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCTCGGACACTGCAGAACAA	0.632000														39			9		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459624	49459624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:49459624C>T	uc001jgi.3	-	1	467	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	FRMPD2_uc001jgh.3_Missense_Mutation_p.E37K|FRMPD2_uc001jgj.3_Missense_Mutation_p.E37K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	46	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CGGAGGTCTTCCAGGAGCTGC	0.572000														61			18		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838404	16838404	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:16838404C>T	uc010rcu.1	-	10	1824	c.1809G>A	c.(1807-1809)agG>agA	p.R603R	PLEKHA7_uc001mmo.3_Silent_p.R603R|PLEKHA7_uc010rcv.2_Silent_p.R177R|PLEKHA7_uc001mmn.3_Silent_p.R311R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	603	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGTCCACACTCCTCCTCTGGT	0.657000														78			27		0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111872537	111872537	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:111872537C>T	uc001kyu.3	+	2	354	c.198C>T	c.(196-198)gcC>gcT	p.A66A	ADD3_uc001kyt.4_Silent_p.A66A|ADD3_uc001kys.4_Silent_p.A66A|ADD3_uc001kyv.3_Silent_p.A66A|ADD3_uc001kyw.3_Silent_p.A66A	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	66						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TATTACAGGCCTTTCGGGAAG	0.408000														41			22		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107032349	107032349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:107032349C>T	uc010ywi.1	-	20	5078	c.5021G>A	c.(5020-5022)cGg>cAg	p.R1674Q		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1674					intracellular transport		binding	p.R1674L(3)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCTATTTCCCGAAGCAGGCC	0.443000														150			44		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207161985	207161985	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr2:207161985C>T	uc002vbp.2	+	3	326	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	26							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCAGTGCTCAGCACAGGAG	0.373000														29			11		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646249	101646249	+	Silent	SNP	C	T	T			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr10:101646249C>T	uc001kqj.2	-	12	3518	c.3426G>A	c.(3424-3426)aaG>aaA	p.K1142K	DNMBP_uc010qpl.1_Silent_p.K78K|DNMBP_uc001kqg.2_Silent_p.K430K|DNMBP_uc001kqh.2_Silent_p.K774K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1142	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTCTTGTCCTTTAGCTTTT	0.527000														88			47		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637381	23637382	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:23637381_23637382delAG	uc001bgr.4	-	10	1626_1627	c.1467_1468delCT	c.(1465-1470)ccctacfs	p.P489fs	HNRNPR_uc001bgo.3_Frame_Shift_Del_p.P99fs|HNRNPR_uc010odw.2_Frame_Shift_Del_p.P451fs|HNRNPR_uc009vql.3_Frame_Shift_Del_p.P350fs|HNRNPR_uc001bgp.4_Frame_Shift_Del_p.P492fs|HNRNPR_uc001bgs.4_Frame_Shift_Del_p.P388fs|HNRNPR_uc009vqk.3_Frame_Shift_Del_p.P391fs|HNRNPR_uc010odx.2_Frame_Shift_Del_p.P329fs	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	489	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TAGCCGTAGTAGGGATCTTCAT	0.510													---	198	---	---	51	---					
ZNF644	84146	broad.mit.edu	37	1	91404473	91404473	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:91404473delT	uc001dnw.3	-	2	2721	c.2438delA	c.(2437-2439)aagfs	p.K813fs	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Frame_Shift_Del_p.K813fs	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTAGATTCCTTAATTACTCT	0.373													---	99	---	---	36	---					
PAPPA2	60676	broad.mit.edu	37	1	176563857	176563857	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr1:176563857delG	uc001gkz.3	+	2	2281	c.1117delG	c.(1117-1119)ggafs	p.G373fs	PAPPA2_uc001gky.1_Frame_Shift_Del_p.G373fs|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	373					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTTACGATGGACGGCACAT	0.572													---	84	---	---	36	---					
SLC4A7	9497	broad.mit.edu	37	3	27465562	27465564	+	In_Frame_Del	DEL	CCA	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr3:27465562_27465564delCCA	uc011aww.2	-	7	1451_1453	c.1230_1232delTGG	c.(1228-1233)ggtgga>gga	p.410_411GG>G	SLC4A7_uc011awx.2_In_Frame_Del_p.397_398GG>G|SLC4A7_uc021wun.1_In_Frame_Del_p.286_287GG>G|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_In_Frame_Del_p.393_394GG>G|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_In_Frame_Del_p.282_283GG>G|SLC4A7_uc011axb.2_In_Frame_Del_p.397_398GG>G|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_In_Frame_Del_p.282_283GG>G|SLC4A7_uc010hfm.2_In_Frame_Del_p.282_283GG>G|SLC4A7_uc010hfl.3_In_Frame_Del_p.V4del|SLC4A7_uc003cdv.3_In_Frame_Del_p.401_402GG>G|SLC4A7_uc003cdw.3_In_Frame_Del_p.277_278GG>G	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	401						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTCTCTGCTTCCACCACTTCCAT	0.350													---	98	---	---	21	---					
PDE10A	10846	broad.mit.edu	37	6	165862417	165862417	+	Splice_Site	DEL	T	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr6:165862417delT	uc003qun.3	-	6	611	c.366_splice	c.e6+1	p.N122_splice	PDE10A_uc011egj.2_Splice_Site|PDE10A_uc011egk.2_Splice_Site_p.N52_splice|PDE10A_uc003quo.3_Splice_Site_p.N132_splice	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	122	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GATACTTACATTATTGCACTC	0.338													---	46	---	---	17	---					
GIMAP4	55303	broad.mit.edu	37	7	150269316	150269316	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr7:150269316delG	uc003whl.3	+	2	240	c.158delG	c.(157-159)cggfs	p.R53fs	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Frame_Shift_Del_p.R67fs	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	53							GTP binding	p.R53Q(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCTTGGCCGGAAAGTGTTT	0.473													---	76	---	---	30	---					
RBM12B	389677	broad.mit.edu	37	8	94746423	94746424	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr8:94746423_94746424delAA	uc022aye.1	-	0	2215_2216	c.2215_2216delTT	c.(2215-2217)ttcfs	p.F739fs	RBM12B_uc003yfz.3_Frame_Shift_Del_p.F739fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	739							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGTCTCCGGAAATGCTCTGGG	0.634													---	214	---	---	101	---					
FOCAD	54914	broad.mit.edu	37	9	20948332	20948345	+	Frame_Shift_Del	DEL	AAAAGCTGAAGACT	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr9:20948332_20948345delAAAAGCTGAAGACT	uc003zog.1	+	32	4101_4114	c.3738_3751delAAAAGCTGAAGACT	c.(3736-3753)ggaaaagctgaagacttgfs	p.G1246fs	FOCAD_uc003zoh.1_Frame_Shift_Del_p.G682fs	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1246						integral to membrane	binding										GTGGACATGGAAAAGCTGAAGACTTGGGCAGCAA	0.374													---	50	---	---	12	---					
EHBP1L1	254102	broad.mit.edu	37	11	65350324	65350324	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr11:65350324delG	uc001oeo.4	+	8	2446	c.2181delG	c.(2179-2181)cagfs	p.Q727fs		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	727	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TAGGGACCCAGGAGATAACAG	0.517													---	21	---	---	10	---					
FAR2	55711	broad.mit.edu	37	12	29423429	29423429	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:29423429delC	uc001rit.3	+	1	315	c.47delC	c.(46-48)acgfs	p.T16fs	FAR2_uc001ris.4_Frame_Shift_Del_p.T16fs|FAR2_uc009zjm.3_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	16					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	p.T16M(2)		central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ATTCTCATCACGGGGGCCACA	0.502													---	67	---	---	19	---					
SPRYD3	84926	broad.mit.edu	37	12	53467119	53467119	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:53467119delC	uc001sbt.2	-	5	731	c.644delG	c.(643-645)agtfs	p.S215fs	SPRYD3_uc010snw.2_Frame_Shift_Del_p.S41fs	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	215										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATCCTCGTAACTGTCCACCAT	0.632													---	26	---	---	7	---					
INHBC	3626	broad.mit.edu	37	12	57828910	57828910	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:57828910delG	uc001snv.1	+	0	368	c.241delG	c.(241-243)gggfs	p.G81fs		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	81					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCACCTCCACGGGGTCCCACA	0.567													---	48	---	---	24	---					
PHLDA1	22822	broad.mit.edu	37	12	76425154	76425155	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr12:76425154_76425155insG	uc001sxu.3	-	0	402_403	c.367_368insC	c.(367-369)cgcfs	p.R123fs	PHLDA1_uc021rax.1_Frame_Shift_Ins_p.R123fs	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	123					apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TCCAGCCGCGCGGGCCGGGGGC	0.728													---	21	---	---	10	---					
TUBGCP5	114791	broad.mit.edu	37	15	22849078	22849078	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr15:22849078delC	uc001yuq.2	+	9	1255	c.1125delC	c.(1123-1125)ttcfs	p.F375fs	TUBGCP5_uc001yur.4_Frame_Shift_Del_p.F375fs|TUBGCP5_uc010axz.1_5'UTR	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	375					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TCATTAGTTTCAAAGAGGAAC	0.388													---	25	---	---	17	---					
TCEB2	6923	broad.mit.edu	37	16	2822061	2822061	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:2822061delG	uc002crn.3	-	3	344	c.287delC	c.(286-288)ccgfs	p.P96fs	TCEB2_uc002crm.3_Frame_Shift_Del_p.P96fs	NM_007108	NP_009039	Q15370	ELOB_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) (TCEB2), transcript variant 1, mRNA.	96					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						CAGCTCTGGCGGGCTGGAAAA	0.612													---	23	---	---	15	---					
ITGAL	3683	broad.mit.edu	37	16	30500637	30500637	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:30500637delG	uc002dyi.4	+	10	1319	c.1143delG	c.(1141-1143)aagfs	p.K381fs	ITGAL_uc002dyj.4_Frame_Shift_Del_p.K298fs|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	381					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTGACCTGAAGGCAGACCTGC	0.552													---	82	---	---	15	---					
FHOD1	29109	broad.mit.edu	37	16	67267864	67267864	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr16:67267864delC	uc002esl.3	-	12	1854	c.1742delG	c.(1741-1743)ggafs	p.G581fs	FHOD1_uc010ced.3_Frame_Shift_Del_p.G388fs|FHOD1_uc010vjh.1_Frame_Shift_Del_p.G241fs	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	581	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GGGGGGTACTCCCGAGAGCAG	0.622													---	37	---	---	18	---					
HOXB3	3213	broad.mit.edu	37	17	46628070	46628070	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr17:46628070delA	uc002inn.3	-	1	1322	c.922delT	c.(922-924)tacfs	p.Y308fs	HOXB3_uc010wlm.2_Frame_Shift_Del_p.Y235fs|HOXB3_uc010dbf.3_Frame_Shift_Del_p.Y308fs|HOXB3_uc010dbg.3_Frame_Shift_Del_p.Y308fs|HOXB3_uc002ino.3_Frame_Shift_Del_p.Y308fs|HOXB3_uc010wlk.2_Frame_Shift_Del_p.Y176fs|HOXB3_uc010wll.2_Frame_Shift_Del_p.Y235fs	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	308					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGGGCTGGTAGTTGGAGGGC	0.662											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	182	---	---	62	---					
TSSK6	83983	broad.mit.edu	37	19	19625912	19625913	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:19625912_19625913insG	uc002nmr.3	-	0	557_558	c.324_325insC	c.(322-327)cccggafs	p.P108fs	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	108	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G109R(2)|p.P108P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCCTGAACTCCGGGGATGCGCC	0.634													---	36	---	---	36	---					
LILRB5	10990	broad.mit.edu	37	19	54759955	54759957	+	In_Frame_Del	DEL	GTT	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr19:54759955_54759957delGTT	uc010yer.1	-	3	688_690	c.577_579delAAC	c.(577-579)aacdel	p.N193del	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_In_Frame_Del_p.N202del|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_In_Frame_Del_p.N202del|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	202	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACACCTGAGGGTTTTTCCTGTAA	0.527													---	77	---	---	16	---					
PHACTR3	116154	broad.mit.edu	37	20	58348385	58348385	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A3J5-06A-11D-A20D-08	TCGA-EE-A3J5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b07bad52-d44c-4b27-900a-960985bfadec	c96762c7-78d0-49b8-a731-23b9158a0f5f	g.chr20:58348385delT	uc002yau.3	+	5	1270	c.803delT	c.(802-804)ctcfs	p.L268fs	PHACTR3_uc002yat.3_Frame_Shift_Del_p.L265fs|PHACTR3_uc010zzw.2_Frame_Shift_Del_p.L227fs|PHACTR3_uc002yav.3_Frame_Shift_Del_p.L227fs|PHACTR3_uc002yaw.3_Frame_Shift_Del_p.L227fs|PHACTR3_uc002yax.3_Frame_Shift_Del_p.L157fs	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	268						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.L268F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GACCCTTCCCTCCGGGGCCAG	0.642													---	135	---	---	65	---					
