Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RP1	6101	broad.mit.edu	37	8	55534066	55534066	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:55534066C>T	ENST00000220676.1	+	2	688	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	180	Doublecortin 2.				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)			CCCAGAGCTTCGAGGCATTTC	0.637000													99	157					0	0	0.870114	0	0
NEU1	4758	broad.mit.edu	37	6	31828219	31828219	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:31828219G>A	ENST00000375631.4	-	4	924	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	265						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TCCTGACCTGGCATTCATCAG	0.557000													4	163					0	0	0.184627	0	0
CCDC181	57821	broad.mit.edu	37	1	169391468	169391468	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:169391468A>T	ENST00000545005.1	-	4	708	c.201T>A	c.(199-201)gaT>gaA	p.D67E	CCDC181_ENST00000367806.3_Missense_Mutation_p.D67E|CCDC181_ENST00000367805.3_Missense_Mutation_p.D67E|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		ATTTGTCAGGATCAGAATGCC	0.383000													45	83					0	0	0.859065	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	203					0	0	0.278610	0	0
FAM86B2	653333	broad.mit.edu	37	8	12285220	12285220	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:12285220C>T	ENST00000262365.4	-	7	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000393715.3_Missense_Mutation_p.V52M|FAM86B2_ENST00000351291.4_Missense_Mutation_p.V246M	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	280										endometrium(1)|kidney(2)	3						GTAAAGGCCACGTAGACCTCA	0.652000													7	41					0	0	0.307466	0	0
ZNF429	353088	broad.mit.edu	37	19	21719158	21719158	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:21719158G>A	ENST00000358491.4	+	4	511	c.303G>A	c.(301-303)agG>agA	p.R101R	ZNF429_ENST00000594022.1_3'UTR|ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TGACACTGAGGAGATATGATA	0.328000													5	45					0	0	0.248553	0	0
ASAP1	50807	broad.mit.edu	37	8	131130883	131130883	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:131130883T>G	ENST00000357668.1	-	18	1673	c.1646A>C	c.(1645-1647)gAt>gCt	p.D549A	ASAP1_ENST00000518721.1_Missense_Mutation_p.D549A			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	549	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AAACCTATGATCTACATACTT	0.333000													35	32					0	0	0.779181	0	0
DENND1C	79958	broad.mit.edu	37	19	6477435	6477435	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:6477435A>G	ENST00000381480.2	-	7	513	c.401T>C	c.(400-402)tTt>tCt	p.F134S	DENND1C_ENST00000543576.1_Missense_Mutation_p.F90S|DENND1C_ENST00000591030.1_5'UTR	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	134	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGACTGCTGAAACAGATTTTG	0.627000													19	19					0	0	0.575678	0	0
MRPL55	128308	broad.mit.edu	37	1	228295431	228295431	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:228295431G>T	ENST00000366731.5	-	5	1067	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366736.1_Missense_Mutation_p.L56M|MRPL55_ENST00000411464.2_Missense_Mutation_p.L56M|MRPL55_ENST00000366747.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366741.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366733.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366738.1_Missense_Mutation_p.L92M|MRPL55_ENST00000391867.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366739.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366734.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366735.1_Missense_Mutation_p.L56M|MRPL55_ENST00000366732.1_Missense_Mutation_p.L53M|MRPL55_ENST00000336520.3_Missense_Mutation_p.L56M|MRPL55_ENST00000366742.1_Missense_Mutation_p.L56M|MRPL55_ENST00000430433.1_Missense_Mutation_p.L92M|MRPL55_ENST00000366740.1_Missense_Mutation_p.L56M|MRPL55_ENST00000348259.5_Missense_Mutation_p.L56M|MRPL55_ENST00000295008.4_Missense_Mutation_p.L56M|MRPL55_ENST00000336300.5_Missense_Mutation_p.L56M|MRPL55_ENST00000366744.1_Missense_Mutation_p.L56M			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	56					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				TGCTTCACCAGCAGCACGGGG	0.647000													3	49					0.115264	0.1227	0.115264	1	0
KRT2	3849	broad.mit.edu	37	12	53039156	53039156	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:53039156C>A	ENST00000309680.3	-	9	1588	c.1567G>T	c.(1567-1569)Ggt>Tgt	p.G523C		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	523	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)		GACCCTCTACCTCCAGAACCT	0.552000													88	148					7.539e-32	8.57886e-32	0.870114	1	0
DAZL	1618	broad.mit.edu	37	3	16640098	16640098	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:16640098G>T	ENST00000250863.8	-	2	358	c.71C>A	c.(70-72)gCa>gAa	p.A24E	DAZL_ENST00000399444.2_Missense_Mutation_p.A4E	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	4					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	p.A4E(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTCAGGATTTGCAGTAGACTG	0.358000													4	229					0.184627	0.190397	0.184627	1	0
PCDHB3	56132	broad.mit.edu	37	5	140480302	140480302	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:140480302G>A	ENST00000231130.2	+	1	69	c.69G>A	c.(67-69)ggG>ggA	p.G23G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		23					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGGGAGGGTCTCTGGCTG	0.498000													27	75					0	0	0.706142	0	0
PHF5A	84844	broad.mit.edu	37	22	41863565	41863565	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:41863565G>A	ENST00000216252.3	-	3	201	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	44					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TCACATATGCGCACCAGAGTG	0.493000													43	60					0	0	0.864702	0	0
GRIK4	2900	broad.mit.edu	37	11	120732824	120732824	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:120732824C>T	ENST00000527524.2	+	9	1188	c.901C>T	c.(901-903)Cct>Tct	p.P301S	GRIK4_ENST00000438375.2_Missense_Mutation_p.P301S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	301					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTTCACTGGGCCTGCGGTAAG	0.562000													142	232					0	0	0.870114	0	0
SEMA4F	10505	broad.mit.edu	37	2	74883774	74883774	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:74883774G>A	ENST00000357877.2	+	2	408	c.259G>A	c.(259-261)Gct>Act	p.A87T	SEMA4F_ENST00000339773.5_Missense_Mutation_p.A87T	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	87	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CACCATCTTCGCTTTATCCCT	0.527000													68	131					0	0	0.870114	0	0
TMEM245	23731	broad.mit.edu	37	9	111795700	111795700	+	Silent	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:111795700A>G	ENST00000374586.3	-	17	2512	c.2481T>C	c.(2479-2481)ccT>ccC	p.P827P		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	827						integral to membrane											AGAGAAGAATAGGACCGATGA	0.527000													3	186					0	0	0.115264	0	0
GNA15	2769	broad.mit.edu	37	19	3148739	3148739	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:3148739G>A	ENST00000262958.3	+	2	554	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	99					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GCCATGGAGCGGCTGCAGATT	0.692000													7	1					0	0	0.335167	0	0
CHMP1B	57132	broad.mit.edu	37	18	11851812	11851812	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:11851812C>T	ENST00000526991.2	+	1	418	c.302C>T	c.(301-303)gCg>gTg	p.A101V	GNAL_ENST00000423027.3_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	101					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						TCGATGGATGCGACATTGAAG	0.532000													4	194					0	0	0.184627	0	0
HAL	3034	broad.mit.edu	37	12	96379739	96379739	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr12:96379739G>A	ENST00000261208.3	-	14	1521	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	HAL_ENST00000538703.1_Missense_Mutation_p.H385Y|HAL_ENST00000541929.1_Missense_Mutation_p.H177Y	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	385					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGAACCTGTGACTCTCTGTG	0.418000													33	40					0	0	0.804634	0	0
C2orf68	388969	broad.mit.edu	37	2	85836569	85836569	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:85836569T>A	ENST00000306336.5	-	3	411	c.367A>T	c.(367-369)Atc>Ttc	p.I123F	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	123										breast(1)|central_nervous_system(1)|endometrium(1)	3						TGATAGACGATAACTGATGTG	0.542000													170	299					0	0	0.870114	0	0
DRD2	1813	broad.mit.edu	37	11	113283362	113283362	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:113283362G>A	ENST00000362072.3	-	7	1398	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	DRD2_ENST00000544518.1_Missense_Mutation_p.R351W|DRD2_ENST00000542968.1_Missense_Mutation_p.R352W|DRD2_ENST00000538967.1_Missense_Mutation_p.R354W|DRD2_ENST00000346454.3_Missense_Mutation_p.R323W|DRD2_ENST00000355319.2_Missense_Mutation_p.R354W	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	352	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	AGGGAGGTCCGGGTTTTGCCA	0.567000													52	41					0	0	0.870114	0	0
MUC4	4585	broad.mit.edu	37	3	195505835	195505835	+	Missense_Mutation	SNP	C	C	T	rs58500707	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195505835C>T	ENST00000463781.3	-	2	13075	c.12616G>A	c.(12616-12618)Gcc>Acc	p.A4206T	MUC4_ENST00000475231.1_Missense_Mutation_p.A4206T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	969					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A4206T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.597000													8	16					0	0	0.307466	0	0
APITD1-CORT	100526739	broad.mit.edu	37	1	10494743	10494743	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:10494743G>A	ENST00000400900.2	+	3	621	c.205G>A	c.(205-207)Gca>Aca	p.A69T	APITD1_ENST00000309048.3_Missense_Mutation_p.A69T|APITD1_ENST00000462462.1_Intron|APITD1_ENST00000602787.1_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602296.1_Missense_Mutation_p.A69T|APITD1-CORT_ENST00000470413.2_Missense_Mutation_p.A69T			Q8N2Z9	CENPS_HUMAN		69					DNA repair|mitotic prometaphase|transcription initiation, DNA-dependent	chromosome, centromeric region|cytosol|Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding										TGAAATGTTTGCAAGGTGGGT	0.418000													8	162					0	0	0.278610	0	0
SIAH3	283514	broad.mit.edu	37	13	46357874	46357874	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr13:46357874C>T	ENST00000400405.2	-	2	560	c.454G>A	c.(454-456)Gcg>Acg	p.A152T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TCAGCCGGCGCGGGGAGGTGC	0.617000													27	19					0	0	0.667858	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645458	13645458	+	Silent	SNP	C	C	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:13645458C>G	ENST00000361205.4	+	7	1391	c.723C>G	c.(721-723)acC>acG	p.T241T	LDLRAD4_ENST00000399848.3_Silent_p.T223T|LDLRAD4_ENST00000585931.1_Silent_p.T164T|LDLRAD4_ENST00000587757.1_Silent_p.T204T|LDLRAD4_ENST00000359446.5_Silent_p.T241T|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.T186T|LDLRAD4_ENST00000592991.1_Silent_p.T143T	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		GTGCAAGCACCTGCAGCAGTA	0.582000													67	86					0	0	0.870114	0	0
KCNK15	60598	broad.mit.edu	37	20	43378887	43378887	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr20:43378887C>T	ENST00000372861.3	+	2	532	c.401C>T	c.(400-402)gCg>gTg	p.A134V		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	134						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGGCTGAACGCGGTGGTGCGG	0.682000													3	18					0	0	0.115264	0	0
PDE7A	5150	broad.mit.edu	37	8	66691967	66691967	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:66691967G>A	ENST00000401827.3	-	3	714	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	PDE7A_ENST00000379419.4_Missense_Mutation_p.R65C|PDE7A_ENST00000396642.3_Missense_Mutation_p.R91C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	91						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	TGGAAAATACGAAAATCAATA	0.353000													8	191					0	0	0.278610	0	0
CHPF2	54480	broad.mit.edu	37	7	150934838	150934838	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr7:150934838C>T	ENST00000035307.2	+	4	2903	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	CHPF2_ENST00000495645.1_Missense_Mutation_p.R456C	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	464						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GGCCCTGGCTCGCAGGGTCAG	0.652000													27	58					0	0	0.717897	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	59					0	0	0.115264	0	0
GRM1	2911	broad.mit.edu	37	6	146747715	146747715	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:146747715C>T	ENST00000392299.2	+	9	3151	c.2681C>T	c.(2680-2682)tCg>tTg	p.S894L	GRM1_ENST00000507907.1_Missense_Mutation_p.S894L|GRM1_ENST00000282753.1_Intron|GRM1_ENST00000492807.2_Missense_Mutation_p.S894L|GRM1_ENST00000361719.2_Intron|GRM1_ENST00000355289.4_Intron			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	0					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S894W(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAGAATTCTCGCCCACCAGC	0.493000													4	21					0	0	0.184627	0	0
SMC4	10051	broad.mit.edu	37	3	160150245	160150245	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:160150245G>A	ENST00000357388.3	+	22	3923	c.3472G>A	c.(3472-3474)Gac>Aac	p.D1158N	TRIM59_ENST00000543469.1_3'UTR|SMC4_ENST00000360111.2_Missense_Mutation_p.D1100N|SMC4_ENST00000469762.1_Missense_Mutation_p.D1133N|SMC4_ENST00000462787.1_Missense_Mutation_p.D1100N|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D1158N	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1158					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTGGGAGGGGACGCCGAACT	0.363000													8	89					0	0	0.278610	0	0
EIF4G3	8672	broad.mit.edu	37	1	21220080	21220080	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:21220080G>C	ENST00000602326.1	-	16	2616	c.2033C>G	c.(2032-2034)cCt>cGt	p.P678R	EIF4G3_ENST00000264211.8_Missense_Mutation_p.P672R|EIF4G3_ENST00000544689.1_Missense_Mutation_p.P215R|EIF4G3_ENST00000536266.1_Missense_Mutation_p.P276R|EIF4G3_ENST00000537738.1_Missense_Mutation_p.P125R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P672R|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P392R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P678R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	672					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGTCCTCGAGGCAAAATTCG	0.463000													46	83					0	0	0.870114	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357868	149357868	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:149357868C>T	ENST00000286298.4	+	2	921	c.653C>T	c.(652-654)gCa>gTa	p.A218V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	218						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGTTGCTATGCAATTATGGTT	0.363000													50	134					0	0	0.870114	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513047	89513047	+	RNA	SNP	T	T	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:89513047T>C	ENST00000498435.1	-	0	242																											GGATGCAGCATAGATCAGGAG	0.517000													79	241					0	0	0.870114	0	0
SYNE2	23224	broad.mit.edu	37	14	64493344	64493344	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr14:64493344C>T	ENST00000358025.3	+	42	6530	c.6300C>T	c.(6298-6300)atC>atT	p.I2100I	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I2100I|SYNE2_ENST00000344113.4_Silent_p.I2100I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2100					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	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)		TAGAGACCATCATGAAGCAGG	0.448000													17	9					0	0	0.539581	0	0
PLCXD2	257068	broad.mit.edu	37	3	111432939	111432939	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:111432939G>T	ENST00000393934.3	+	3	1400	c.830G>T	c.(829-831)gGc>gTc	p.G277V	PLCXD2_ENST00000477665.1_Missense_Mutation_p.G277V|PLCXD2_ENST00000472215.1_3'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	277					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATTGCCCGGGGCTTGGTTGGG	0.502000													6	173					3.59834e-05	3.89328e-05	0.217242	1	0
OPCML	4978	broad.mit.edu	37	11	132527003	132527003	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:132527003G>A	ENST00000331898.7	-	2	957	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.R120W|OPCML_ENST00000374778.4_Missense_Mutation_p.R86W|OPCML_ENST00000541867.1_Missense_Mutation_p.R127W	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	127					cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGGTGAACCCGGGACGTTTTG	0.502000													31	87					0	0	0.779181	0	0
AGFG1	3267	broad.mit.edu	37	2	228416677	228416677	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:228416677G>A	ENST00000310078.7	+	11	1641	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AGFG1_ENST00000409171.1_Missense_Mutation_p.A461T|AGFG1_ENST00000373671.3_Missense_Mutation_p.A421T|AGFG1_ENST00000409315.1_Missense_Mutation_p.A440T|AGFG1_ENST00000409979.2_Missense_Mutation_p.A485T	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	461					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	p.A461S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTGTCAGCGGCAACCTTTGG	0.458000													4	231					0	0	0.150653	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696185	60696185	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:60696185T>A	ENST00000005286.4	+	4	772	c.619T>A	c.(619-621)Tac>Aac	p.Y207N	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Y207N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	207						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGCTGGCCTACACGCTTGA	0.692000													28	38					0	0	0.717897	0	0
IRX6	79190	broad.mit.edu	37	16	55361590	55361590	+	Missense_Mutation	SNP	G	G	A	rs139251893	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:55361590G>A	ENST00000290552.7	+	4	1838	c.506G>A	c.(505-507)cGc>cAc	p.R169H	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612000													3	56					0	0	0.115264	0	0
SHBG	6462	broad.mit.edu	37	17	7533791	7533791	+	Translation_Start_Site	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:7533791G>A	ENST00000575314.1	+	0	104				SHBG_ENST00000416273.3_Missense_Mutation_p.A57T|SHBG_ENST00000441599.2_Missense_Mutation_p.A57T|SHBG_ENST00000340624.5_De_novo_Start_OutOfFrame|SHBG_ENST00000570547.1_De_novo_Start_OutOfFrame|SHBG_ENST00000574539.1_De_novo_Start_OutOfFrame|SHBG_ENST00000572262.1_De_novo_Start_OutOfFrame|SHBG_ENST00000575903.1_Missense_Mutation_p.A57T|SHBG_ENST00000576728.1_De_novo_Start_OutOfFrame|SHBG_ENST00000380450.4_Missense_Mutation_p.A57T|SHBG_ENST00000572182.1_De_novo_Start_OutOfFrame|SHBG_ENST00000576478.1_De_novo_Start_OutOfFrame			P04278	SHBG_HUMAN	sex hormone-binding globulin						hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AGAGCCTATCGCTGTCATGAC	0.537000													58	108					0	0	0.870114	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954516	79954516	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:79954516G>C	ENST00000306729.7	+	7	824	c.727G>C	c.(727-729)Gtt>Ctt	p.V243L	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.V166L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.V243L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	243							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGCCCCCTTTGTTCCTTTCTC	0.657000			T	TFE3	alveolar soft part sarcoma								20	42					0	0	0.654019	0	0
MUC4	4585	broad.mit.edu	37	3	195505838	195505838	+	Missense_Mutation	SNP	G	G	C	rs59101491		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195505838G>C	ENST00000463781.3	-	2	13072	c.12613C>G	c.(12613-12615)Cac>Gac	p.H4205D	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205D|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205D(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCGTGACCTGTGGAT	0.597000													8	16					0	0	0.307466	0	0
CDH3	1001	broad.mit.edu	37	16	68729271	68729271	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:68729271G>A	ENST00000264012.4	+	14	2660	c.2116G>A	c.(2116-2118)Ggt>Agt	p.G706S	CDH3_ENST00000429102.2_Missense_Mutation_p.G706S|CDH3_ENST00000581171.1_Missense_Mutation_p.G651S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	706					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGAAGAGGGGGGTGGCGAAGA	0.587000													14	6					0	0	0.457914	0	0
ERN2	10595	broad.mit.edu	37	16	23713534	23713534	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:23713534C>T	ENST00000256797.4	-	11	1454	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	ERN2_ENST00000457008.2_Missense_Mutation_p.G381E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	381					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)		AGTTCCACTCCCCAGGGTGGG	0.617000													112	190					0	0	0.870114	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046335	42046335	+	Silent	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:42046335G>A	ENST00000372584.1	-	3	5148	c.4134C>T	c.(4132-4134)ccC>ccT	p.P1378P	HIVEP3_ENST00000372583.1_Silent_p.P1378P|HIVEP3_ENST00000429157.2_Silent_p.P1378P|HIVEP3_ENST00000247584.5_Silent_p.P1378P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1378					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAAGGGCCGGGCCCAACCT	0.527000													105	134					0	0	0.870114	0	0
TTN	7273	broad.mit.edu	37	2	179568957	179568957	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr2:179568957A>G	ENST00000589042.1	-	106	30364	c.30140T>C	c.(30139-30141)aTt>aCt	p.I10047T	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8803T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I9730T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9730	Glu-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)			AACATCTGCAATGGTCAATTT	0.413000													91	181					0	0	0.870114	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388129	131388129	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:131388129G>A	ENST00000358161.5	+	48	6264	c.6151G>A	c.(6151-6153)Gcc>Acc	p.A2051T	SPTAN1_ENST00000372731.4_Missense_Mutation_p.A2046T|SPTAN1_ENST00000372739.3_Missense_Mutation_p.A2051T			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2046					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						GCTTCTCGCCGCCAAACACGT	0.582000													6	314					0	0	0.217242	0	0
TEX35	84066	broad.mit.edu	37	1	178491563	178491563	+	Silent	SNP	T	T	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:178491563T>A	ENST00000319416.2	+	9	802	c.690T>A	c.(688-690)acT>acA	p.T230T	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		agtcccagactgagggaaggt	0.517000													10	13					0	0	0.361761	0	0
OR2W1	26692	broad.mit.edu	37	6	29012436	29012436	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:29012436T>C	ENST00000377175.1	-	1	581	c.517A>G	c.(517-519)Att>Gtt	p.I173V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	173					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						TGATCCAGAATGTTGTTTCCA	0.378000													62	105					0	0	0.870114	0	0
KCNK5	8645	broad.mit.edu	37	6	39159524	39159524	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr6:39159524G>T	ENST00000359534.3	-	5	980	c.642C>A	c.(640-642)aaC>aaA	p.N214K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	214					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGCGCTGGGGTTCACACCTG	0.587000													65	121					4.38816e-42	5.08103e-42	0.870114	1	0
RECK	8434	broad.mit.edu	37	9	36110017	36110017	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:36110017G>A	ENST00000377966.3	+	15	2395	c.1829G>A	c.(1828-1830)tGc>tAc	p.C610Y		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	610						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AATTTGGTGTGCTCTACCCGC	0.463000													118	193					0	0	0.870114	0	0
FRYL	285527	broad.mit.edu	37	4	48529997	48529997	+	Silent	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr4:48529997C>T	ENST00000537810.1	-	52	7735	c.7131G>A	c.(7129-7131)aaG>aaA	p.K2377K	FRYL_ENST00000358350.4_Silent_p.K2377K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Silent_p.K2377K			O94915	FRYL_HUMAN	FRY-like	2377					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGATGGGTTCTTTGGGAGGC	0.373000													5	152					0	0	0.278610	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7618879	7618879	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr11:7618879A>G	ENST00000299492.4	+	5	849	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.N42S|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	154					cell communication|DNA integration	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)		GTGAAACTCAATGCTGCTGAA	0.547000													16	20					0	0	0.539581	0	0
PPP1R8	5511	broad.mit.edu	37	1	28167531	28167531	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:28167531G>A	ENST00000311772.5	+	4	336	c.278G>A	c.(277-279)gGc>gAc	p.G93D	PPP1R8_ENST00000236412.7_Intron|PPP1R8_ENST00000373931.4_5'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	93	FHA.|Interaction with CDC5L, SF3B1 and MELK.				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACACGGCACTTTCTTG	0.468000													5	250					0	0	0.184627	0	0
ZNF516	9658	broad.mit.edu	37	18	74091731	74091731	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr18:74091731C>T	ENST00000443185.2	-	4	2656	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	780					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)		GTGCCAGATGCGTTTGTGCAT	0.572000													13	30					0	0	0.457914	0	0
MYLK	4638	broad.mit.edu	37	3	123385193	123385193	+	Splice_Site	SNP	G	G	A			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:123385193G>A	ENST00000360772.3	-	23	4082	c.3703_splice	c.e23-1	p.A1235_splice	MYLK_ENST00000475616.1_Splice_Site_p.A1235_splice|MYLK_ENST00000354792.5_Splice_Site_p.A35_splice|MYLK_ENST00000360304.3_Splice_Site_p.A1235_splice|MYLK_ENST00000359169.1_Splice_Site_p.A1235_splice|MYLK_ENST00000346322.5_Splice_Site_p.A1166_splice|MYLK_ENST00000510775.1_5'UTR			Q15746	MYLK_HUMAN	myosin light chain kinase	1235	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		AGGGGGCATTGCTGAGGGAGG	0.557000													42	166					0	0	0.853193	0	0
CYLD	1540	broad.mit.edu	37	16	50820854	50820854	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:50820854A>T	ENST00000540145.1	+	13	2453	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	CYLD_ENST00000427738.3_Nonsense_Mutation_p.K680*|CYLD_ENST00000398568.2_Nonsense_Mutation_p.K677*|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Nonsense_Mutation_p.K677*|CYLD_ENST00000568704.2_Nonsense_Mutation_p.K495*|CYLD_ENST00000566206.1_Nonsense_Mutation_p.K677*|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Nonsense_Mutation_p.K680*|CYLD_ENST00000564326.1_Nonsense_Mutation_p.K677*			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	680					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CTCTGAAGAAAAAGGTGACCA	0.358000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				37	26					0	0	0.788014	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		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)			ACCCACACCTTCTGCAACTAC	0.522000													4	226					0	0	0.150653	0	0
MYH9	4627	broad.mit.edu	37	22	36685234	36685234	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr22:36685234A>G	ENST00000216181.5	-	32	4684	c.4454T>C	c.(4453-4455)cTg>cCg	p.L1485P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1485					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GGCTTCCTCCAGGGCCCGGGC	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				24	47					0	0	0.693898	0	0
PRAMEF26	645359	broad.mit.edu	37	1	13219107	13219109	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr1:13219107_13219109delCTT	ENST00000423177.1	-	1	472_474	c.473_475delAAG	c.(472-477)gga>g	p.EG158del																	breast(1)|lung(1)	2						TAACAATCTCCTTCTTCTGCTCT	0.507													68	427	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)atc>a	p.TI23del	PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													8	852	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452996	195452997	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr3:195452996_195452997delAG	ENST00000320736.6	+	3	1135_1136	c.1009_1010delAG	c.(1009-1011)afs	p.R337fs	MUC20_ENST00000447234.2_Frame_Shift_Del_p.R508fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.R473fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.R508fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	508	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CGCCACAGAAAGAGAAGTGACA	0.604													14	126	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggfs	p.G907fs	ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	2462	---	---	---	---					
RP11-459E5.1	0	broad.mit.edu	37	8	22557219	22557220	+	RNA	INS	-	-	AGAAAG	rs13262232		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:22557219_22557220insAGAAAG	ENST00000523627.1	+	0	164																											gaagaaaggaaagaaagaaaga	0.312													3	6	---	---	---	---					
NOV	4856	broad.mit.edu	37	8	120428777	120428778	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr8:120428777_120428778delAG	ENST00000259526.3	+	1	232_233	c.5_6delAG	c.(4-6)cfs	p.Q2fs		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	2					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCATGCAGAGTGTGCAGA	0.550											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	41	---	---	---	---					
LINC01492	101928496	broad.mit.edu	37	9	105984006	105984007	+	RNA	INS	-	-	G	rs67717417		TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr9:105984006_105984007insG	ENST00000411575.1	-	0	870																											AAAAAAAAAAAAAGAAGAAGAA	0.322													4	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													3	4	---	---	---	---					
KRTAP4-7	100132476	broad.mit.edu	37	17	39240782	39240796	+	In_Frame_Del	DEL	CTGCTGCCGCCCCAG	CTGCTGCCGCCCCAG	-	rs11650261	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:39240782_39240796delCTGCTGCCGCCCCAG	ENST00000391417.4	+	1	324_338	c.324_338delCTGCTGCCGCCCCAG	c.(322-339)acc>ac	p.TCCRPS108del		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.R111_C115delRPSCC(1)|p.S113C(1)|p.P112P(1)|p.?(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gccagcccacctgctgccgccccagctgctgccgc	0.670													8	61	---	---	---	---					
KLHL11	55175	broad.mit.edu	37	17	40021170	40021171	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr17:40021170_40021171insG	ENST00000319121.3	-	1	513_514	c.453_454insC	c.(451-456)ccacacfs	p.H152fs		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	152	BTB.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCCACTGTGTCGGGTTCGGGCC	0.663													8	72	---	---	---	---					
PNMAL2	57469	broad.mit.edu	37	19	46997016	46997017	+	In_Frame_Ins	INS	-	-	CGGCCT	rs147338403	by1000genomes	TCGA-BA-5153-01A-01D-1434-08	TCGA-BA-5153-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	363ccc6f-dab0-413e-bc42-d738ee25abcd	e35524f2-301e-42e6-b910-6803670d8ed8	g.chr19:46997016_46997017insCGGCCT	ENST00000599531.1	-	1	2738_2739	c.1706_1707insAGGCCG	c.(1705-1707)cgg>cAGGCCGgg	p.569_569R>QAG	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	571										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGTGACGCCCCGGCCTCGGCC	0.777													4	6	---	---	---	---					
