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
GTF3A	2971	broad.mit.edu	37	13	28001293	28001293	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:28001293G>T	uc001ure.2	+	1	460	c.266G>T	c.(265-267)cGc>cTc	p.R89L	GTF3A_uc001urf.2_5'UTR|GTF3A_uc001urg.2_Non-coding_Transcript	NM_002097	NP_002088	Q92664	TF3A_HUMAN	Homo sapiens general transcription factor IIIA (GTF3A), mRNA.	89					rRNA transcription|regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|RNA binding|protein binding|zinc ion binding			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		CATCTGAGCCGCCACATTCTG	0.453000														28			12		1.49906e-05	1.58234e-05	0.020292	1	0
C1orf173	127254	broad.mit.edu	37	1	75037471	75037471	+	Missense_Mutation	SNP	G	A	A	rs138615520		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:75037471G>A	uc001dgg.3	-	13	4142	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1308	Glu-rich.							p.A1308V(2)		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						GTCCTGCATCGCTTCTGTCTC	0.542000														303			47		0	0	0.011902	0	0
PSKH1	5681	broad.mit.edu	37	16	67961230	67961230	+	Silent	SNP	C	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67961230C>G	uc002euv.3	+	2	1130	c.960C>G	c.(958-960)ccC>ccG	p.P320P		NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	320	Protein kinase.					Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GTCTCTAGCCCTGGCCTAGTG	0.587000														94			64		0	0	0.014410	0	0
ROBO1	6091	broad.mit.edu	37	3	78734918	78734918	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:78734918C>A	uc003dqe.2	-	9	1528	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ROBO1_uc003dqc.2_Missense_Mutation_p.K404N|ROBO1_uc003dqd.2_Missense_Mutation_p.K404N|ROBO1_uc003dqb.2_Missense_Mutation_p.K401N|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Missense_Mutation_p.K119N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	440	Ig-like C2-type 4.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCAAATATGCCTTTGTGATGA	0.383000														26			10		0.00829132	0.00846963	0.008291	1	0
ABCA12	26154	broad.mit.edu	37	2	215835096	215835096	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:215835096G>A	uc002vew.3	-	36	5811	c.5591C>T	c.(5590-5592)cCg>cTg	p.P1864L	ABCA12_uc002vev.3_Missense_Mutation_p.P1546L|ABCA12_uc010zjn.2_Missense_Mutation_p.P791L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1864					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)		TCTTCTGTGCGGTGGGGAATA	0.358000														122			22		0	0	0.021523	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	T	T	rs1055042	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000														60			9		0	0	0.010729	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986063	31986063	+	Missense_Mutation	SNP	C	T	T	rs28567421	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:31986063C>T	uc002yop.3	-	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	54						cytosol|intermediate filament		p.R54C(1)|p.S53C(1)		breast(2)|endometrium(1)|lung(7)	10						ACAGAGGGAGCGGGAGCCATA	0.587000														156			39		0	0	0.007835	0	0
KCNA6	3742	broad.mit.edu	37	12	4920010	4920010	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:4920010C>T	uc001qng.3	+	0	1669	c.803C>T	c.(802-804)aCg>aTg	p.T268M	KCNA6_uc021qtr.1_Missense_Mutation_p.T268M	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E267Q(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CTGGTGGAGACGCTGTGCATT	0.562000										HNSCC(72;0.22)				233			8		0	0	0.004482	0	0
NLRP4	147945	broad.mit.edu	37	19	56369355	56369355	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:56369355C>T	uc002qmd.4	+	2	1018	c.596C>T	c.(595-597)aCg>aTg	p.T199M	NLRP4_uc002qmf.3_Missense_Mutation_p.T124M|NLRP4_uc010etf.3_Missense_Mutation_p.T30M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	199	NACHT.						ATP binding	p.T199M(2)|p.T199T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGCCGCCAACGAGTTTGGCT	0.517000														308			78		0	0	0.014410	0	0
ATRIP	84126	broad.mit.edu	37	3	48491541	48491541	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:48491541G>A	uc003ctf.1	+	1	378	c.346G>A	c.(346-348)Gta>Ata	p.V116I	ATRIP_uc011bbj.1_5'UTR|ATRIP_uc003ctg.1_Missense_Mutation_p.V116I	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	116					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAATTAGAGGTACTTCAGGC	0.333000								Other conserved DNA damage response genes						118			94		0	0	0.014410	0	0
ELTD1	64123	broad.mit.edu	37	1	79392719	79392719	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:79392719G>T	uc001diq.4	-	7	1091	c.935C>A	c.(934-936)tCt>tAt	p.S312Y		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	312					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAGTTGTCAGATGATGAAAG	0.318000														132			16		6.49762e-13	7.43703e-13	0.006122	1	0
RAB3IP	117177	broad.mit.edu	37	12	70209146	70209146	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:70209146G>A	uc001svp.3	+	10	1798	c.1351G>A	c.(1351-1353)Gat>Aat	p.D451N	RAB3IP_uc001svm.3_Missense_Mutation_p.D435N|RAB3IP_uc001svn.3_3'UTR|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_3'UTR|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Missense_Mutation_p.D229N	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	451					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGTATAGTTGATCAGATGTT	0.363000														141			35		0	0	0.017118	0	0
FANCF	2188	broad.mit.edu	37	11	22647310	22647310	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:22647310G>A	uc001mql.1	-	0	78	c.47C>T	c.(46-48)gCg>gTg	p.A16V		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	16					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GCTTGAGACCGCCAGAAGCTC	0.637000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					104			4		0	0	0.014758	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	Missense_Mutation	SNP	C	T	T	rs111700178	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:1593264C>T	uc010itg.1	-	1	273	c.196G>A	c.(196-198)Gca>Aca	p.A66T	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		AGGGCACATGCCTGACCAAAG	0.557000														105			7		0	0	0.010729	0	0
TNRC18	84629	broad.mit.edu	37	7	5410273	5410273	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:5410273C>T	uc003soi.4	-	10	4301	c.3952G>A	c.(3952-3954)Ggc>Agc	p.G1318S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1318							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGTGCTGCCGAGTACAGGC	0.662000														20			17		0	0	0.006122	0	0
BC101079	0	broad.mit.edu	37	15	102292811	102292811	+	Silent	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:102292811C>A	uc010usj.2	+	3	458	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607000														64			4		2.56e-06	2.76364e-06	0.009096	1	0
XDH	7498	broad.mit.edu	37	2	31625970	31625970	+	Silent	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:31625970G>T	uc002rnv.1	-	2	220	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	47	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAGCCCCGCAGCCCCCCTCTC	0.577000														165			22		1.22574e-08	1.38625e-08	0.014323	1	0
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:196227479C>T	uc001gtd.1	-	25	3116	c.3056G>A	c.(3055-3057)cGa>cAa	p.R1019Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R952Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R995Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.R523Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512000														102			50		0	0	0.014410	0	0
GGT3P	2679	broad.mit.edu	37	22	18778584	18778584	+	RNA	SNP	A	G	G	rs3984302		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:18778584A>G	uc011ago.1	-	1		c.236T>C			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		CCCAATCTCCAAGCACTGCTT	0.607000														40			7		0	0	0.001984	0	0
OR4D5	219875	broad.mit.edu	37	11	123810383	123810383	+	Silent	SNP	T	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr11:123810383T>C	uc001pzk.1	+	0	60	c.60T>C	c.(58-60)gtT>gtC	p.V20V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		TCTCTCAGGTTTGGGAGCTTC	0.443000														179			15		0	0	0.003163	0	0
LOC441666	441666	broad.mit.edu	37	10	42832431	42832431	+	RNA	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:42832431A>G	uc010qey.2	-	2		c.1544T>C								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TCTTGTGTATAGTAAGGTTTG	0.373000														19			3		0	0	0.009096	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														69			5		0.00116845	0.00120655	0.001168	1	0
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:49723596G>A	uc003cxg.3	-	8	1118	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_uc011bcs.1_Missense_Mutation_p.P388S|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667000														31			3		0	0	0.004672	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	881	881	+	RNA	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrGL000237.1:881A>G	uc011mgu.1	-	1		c.337T>C								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cgtggctgccacaaccgcaga	0.582000														35			4		0	0	0.008291	0	0
AMOT	154796	broad.mit.edu	37	X	112048283	112048283	+	Silent	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:112048283C>T	uc004epr.3	-	4	1686	c.1668G>A	c.(1666-1668)gcG>gcA	p.A556A	AMOT_uc004eps.3_Silent_p.A147A	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	556					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						TGGCCAGCTCCGCTTCCAGCT	0.527000														258			173		0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	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 sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)				59			35		0	0	0.013726	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														23			3		0	0	0.001168	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904083	21904083	+	RNA	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:21904083C>A	uc002gza.2	+	0		c.22C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ctgacctctccacggggtcca	0.677000														20			3		6.4e-05	6.68132e-05	0.004672	1	0
ACTR3B	57180	broad.mit.edu	37	7	152517513	152517513	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:152517513G>A	uc003wle.1	+	6	787	c.670G>A	c.(670-672)Gca>Aca	p.A224T	ACTR3B_uc003wlf.1_Missense_Mutation_p.A224T|ACTR3B_uc003wlg.1_Missense_Mutation_p.A136T|ACTR3B_uc011kvp.1_Missense_Mutation_p.A136T	NM_020445	NP_065178	Q9P1U1	ARP3B_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) (ACTR3B), transcript variant 1, mRNA.	224					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	ATP binding|actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTGGAGACCGCAAAAGCCAT	0.517000														32			3		0	0	0.004672	0	0
ACE2	59272	broad.mit.edu	37	X	15582310	15582310	+	Missense_Mutation	SNP	G	A	A	rs144869363	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:15582310G>A	uc004cxa.1	-	16	2314	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	ACE2_uc004cxb.2_Missense_Mutation_p.R716C	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	716					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAGACGGAAAGCATCA	0.428000														215			53		0	0	0.014410	0	0
MAEA	10296	broad.mit.edu	37	4	1283769	1283769	+	Splice_Site	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:1283769A>G	uc003gda.3	+	1	99	c.69_splice	c.e1+1	p.K23_splice	MAEA_uc010ibs.1_Splice_Site_p.K23_splice|MAEA_uc003gdd.3_Splice_Site|MAEA_uc003gdb.3_Splice_Site_p.K23_splice|MAEA_uc011bvb.2_Splice_Site_p.K23_splice|MAEA_uc003gdc.3_Splice_Site_p.K23_splice	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	23	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CCGACCCTCAAGGTGGGCGCC	0.716000														14			4		0	0	0.009096	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617851	37617851	+	Silent	SNP	G	A	A	rs141535910	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:37617851G>A	uc002yvg.3	+	18	3652	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	DOPEY2_uc011aeb.2_Silent_p.S1140S|DOPEY2_uc002yvh.3_Silent_p.S42S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1191					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						CTTCTGAGTCGTTCTCCAGCG	0.637000														101			4		0	0	0.014758	0	0
NCOR1	9611	broad.mit.edu	37	17	16089977	16089977	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr17:16089977A>G	uc002gpo.3	-	2	402	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	NCOR1_uc002gpn.3_Missense_Mutation_p.S45P|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.3_Intron|NCOR1_uc002gps.2_Missense_Mutation_p.S45P|NCOR1_uc010cpb.2_Missense_Mutation_p.S45P|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.S45P|NCOR1_uc002gpu.3_Missense_Mutation_p.S45P	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	45	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGAGAGGAACGATAATCA	0.403000														104			15		0	0	0.003163	0	0
PHLDB3	653583	broad.mit.edu	37	19	44006338	44006338	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:44006338T>C	uc002own.4	-	2	570	c.311A>G	c.(310-312)cAg>cGg	p.Q104R	PHLDB3_uc002owo.3_Missense_Mutation_p.Q104R	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	104										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCAGCTGCTGTCCTTGCAG	0.672000														16			4		0	0	0.009096	0	0
PCDH9	5101	broad.mit.edu	37	13	67802228	67802228	+	Silent	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802228C>A	uc001vik.3	-	1	1037	c.345G>T	c.(343-345)gtG>gtT	p.V115V	PCDH9_uc001vil.3_Silent_p.V115V|PCDH9_uc010thl.2_Silent_p.V115V|PCDH9_uc001vin.3_Silent_p.V115V	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	115	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGGATCACCACCTCAAGTT	0.413000														234			22		1.2644e-06	1.38067e-06	0.010504	1	0
SPRYD3	84926	broad.mit.edu	37	12	53459657	53459657	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:53459657C>T	uc001sbt.2	-	10	1375	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R		NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	430								p.G430W(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ACTTTCTCCCCGCAGCTCAGC	0.567000											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		156			49		0	0	0.014410	0	0
KLK1	3816	broad.mit.edu	37	19	51322554	51322554	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322554A>T	uc002ptk.1	-	4	724	c.685T>A	c.(685-687)Tca>Aca	p.S229T	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	229	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGCCCCATGATGTGACACCT	0.582000														106			75		0	0	0.014410	0	0
TRIM58	25893	broad.mit.edu	37	1	248039221	248039221	+	Silent	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:248039221C>T	uc001ido.3	+	5	939	c.891C>T	c.(889-891)ccC>ccT	p.P297P	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	297	B30.2/SPRY.					intracellular	zinc ion binding	p.P297P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCTGGATCCCGCCACGGCGC	0.537000														59			23		0	0	0.014323	0	0
CAPNS1	826	broad.mit.edu	37	19	36633201	36633201	+	Splice_Site	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:36633201G>A	uc002odi.1	+	3	367	c.210_splice	c.e3-1	p.S70_splice	CAPNS1_uc002odk.3_Splice_Site_p.S70_splice|CAPNS1_uc002odj.3_Splice_Site_p.S70_splice|CAPNS1_uc002odl.3_Splice_Site_p.S70_splice	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	70					positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTCTTCGCAGCGAGGCGGCT	0.652000														139			48		0	0	0.014410	0	0
VRK3	51231	broad.mit.edu	37	19	50504080	50504080	+	Silent	SNP	T	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:50504080T>C	uc002prg.2	-	5	677	c.579A>G	c.(577-579)tcA>tcG	p.S193S	VRK3_uc002prh.1_Silent_p.S193S|VRK3_uc002pri.1_Silent_p.S143S|VRK3_uc010ens.2_Silent_p.S193S|VRK3_uc010ybl.1_Silent_p.S143S|VRK3_uc010ybm.1_Missense_Mutation_p.Q13R|VRK3_uc002prk.2_Silent_p.S193S|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Silent_p.S193S|VRK3_uc010ybn.1_Silent_p.S193S	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	193	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCTGTGGTCCTGAGTCACAGG	0.542000														70			13		0	0	0.016723	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:16946471G>C	uc010ocf.2	-	2		c.427C>G			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CGCTGCAGCTGACTCTGCAGC	0.677000														48			4		0	0	0.009096	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507114	130507114	+	Missense_Mutation	SNP	G	A	A	rs142472912	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:130507114G>A	uc004bsc.3	-	6	1671	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	SH2D3C_uc010mxo.3_Missense_Mutation_p.A350V|SH2D3C_uc004bry.3_Missense_Mutation_p.A352V|SH2D3C_uc004brz.4_Missense_Mutation_p.A156V|SH2D3C_uc011mak.2_Missense_Mutation_p.A156V|SH2D3C_uc004bsb.3_Missense_Mutation_p.A442V|SH2D3C_uc004bsa.3_Missense_Mutation_p.A353V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	510					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTCTCAGTCGCTGCCCACTC	0.627000														237			124		0	0	0.014410	0	0
KLK1	3816	broad.mit.edu	37	19	51322555	51322555	+	Silent	SNP	T	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:51322555T>G	uc002ptk.1	-	4	723	c.684A>C	c.(682-684)acA>acC	p.T228T	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	228	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCATGATGTGACACCTT	0.577000														107			74		0	0	0.014410	0	0
LOC441666	441666	broad.mit.edu	37	10	42832426	42832426	+	RNA	SNP	T	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:42832426T>C	uc010qey.2	-	2		c.1549A>G								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		AATTCTCTTGTGTATAGTAAG	0.373000														18			3		0	0	0.009096	0	0
TTN	7273	broad.mit.edu	37	2	179579858	179579858	+	Silent	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:179579858G>A	uc021vsy.1	-	86	22548	c.22323C>T	c.(22321-22323)agC>agT	p.S7441S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S4102S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8368	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			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)			ACTTCTTGCCGCTCCTAAGTT	0.443000														249			132		0	0	0.014410	0	0
PLA1A	51365	broad.mit.edu	37	3	119327676	119327676	+	Missense_Mutation	SNP	C	T	T	rs145457987	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr3:119327676C>T	uc003ecu.3	+	2	401	c.335C>T	c.(334-336)aCg>aTg	p.T112M	PLA1A_uc003ecv.3_Missense_Mutation_p.T112M|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	112					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGTGCAACGAATGCTAAT	0.438000														255			83		0	0	0.014410	0	0
DYSF	8291	broad.mit.edu	37	2	71795377	71795377	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr2:71795377G>A	uc010fen.3	+	25	2914	c.2773G>A	c.(2773-2775)Gtc>Atc	p.V925I	DYSF_uc010fei.3_Missense_Mutation_p.V924I|DYSF_uc010feh.3_Missense_Mutation_p.V893I|DYSF_uc002sig.4_Missense_Mutation_p.V893I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.V938I|DYSF_uc010fee.3_Missense_Mutation_p.V907I|DYSF_uc010fef.3_Missense_Mutation_p.V924I|DYSF_uc002sie.3_Missense_Mutation_p.V907I|DYSF_uc010feo.3_Missense_Mutation_p.V939I|DYSF_uc010fej.3_Missense_Mutation_p.V894I|DYSF_uc010fel.3_Missense_Mutation_p.V894I|DYSF_uc010fem.3_Missense_Mutation_p.V908I|DYSF_uc002sif.3_Missense_Mutation_p.V908I|DYSF_uc010fek.3_Missense_Mutation_p.V925I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	907						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTTTCTGACGTCACGGGCAA	0.592000														638			112		0	0	0.014410	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627428	43627428	+	Missense_Mutation	SNP	G	A	A	rs11261835	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:43627428G>A	uc011lrb.2	-	3	1288	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	420						integral to membrane		p.P420L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTGCAGAGAGGGGAGGCCCCA	0.498000														595			14		0	0	0.003163	0	0
PCDH9	5101	broad.mit.edu	37	13	67802227	67802227	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:67802227C>A	uc001vik.3	-	1	1038	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PCDH9_uc001vil.3_Missense_Mutation_p.V116L|PCDH9_uc010thl.2_Missense_Mutation_p.V116L|PCDH9_uc001vin.3_Missense_Mutation_p.V116L	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	116	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGGAGGATCACCACCTCAAGT	0.408000														231			22		8.10497e-08	8.95317e-08	0.010504	1	0
GOLPH3	64083	broad.mit.edu	37	5	32126388	32126388	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:32126388G>A	uc003jhp.1	-	3	1112	c.827C>T	c.(826-828)cCt>cTt	p.P276L		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	276					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTCCACTTCAGGGTCTAAGTC	0.542000														172			60		0	0	0.014410	0	0
ARID2	196528	broad.mit.edu	37	12	46231283	46231283	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:46231283A>G	uc001ros.1	+	9	1123	c.1123A>G	c.(1123-1125)Atg>Gtg	p.M375V	ARID2_uc001ror.3_Missense_Mutation_p.M375V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.M21V|ARID2_uc001rot.1_Missense_Mutation_p.M21V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	375					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTTCAGGCATGGAAATTTT	0.308000			"""N, S, F"""		hepatocellular carcinoma									208			74		0	0	0.014410	0	0
GDF6	392255	broad.mit.edu	37	8	97156945	97156945	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr8:97156945G>A	uc003yhp.3	-	1	1314	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	405					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTTCATCAGCGTCTGGATGAT	0.602000														68			11		0	0	0.010729	0	0
TBC1D12	23232	broad.mit.edu	37	10	96269882	96269882	+	Silent	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr10:96269882A>G	uc001kjr.2	+	7	1820	c.1635A>G	c.(1633-1635)gaA>gaG	p.E545E		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	545	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCAGTCTGGAATTAATTAAGT	0.353000														105			23		0	0	0.016522	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000														10			3		0	0	0.001168	0	0
CDC14A	8556	broad.mit.edu	37	1	100843110	100843110	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr1:100843110C>A	uc001dtf.2	+	2	637	c.149C>A	c.(148-150)gCa>gAa	p.A50E	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_5'UTR|CDC14A_uc001dte.4_Missense_Mutation_p.A50E|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Missense_Mutation_p.A50E|CDC14A_uc009wee.3_Missense_Mutation_p.A50E|CDC14A_uc009wec.1_Missense_Mutation_p.A50E	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	50	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGTTTCTATGCAGATTTTGGA	0.279000														103			13		2.10051e-16	2.43351e-16	0.013537	1	0
NOTCH1	4851	broad.mit.edu	37	9	139397707	139397707	+	Silent	SNP	G	A	A	rs10521	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:139397707G>A	uc004chz.3	-	26	5094	c.5094C>T	c.(5092-5094)gaC>gaT	p.D1698D	NOTCH1_uc004cia.1_Silent_p.D928D	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1698					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D1699D(11)|p.A1697D(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGCGGCCACGTCGGTGGCAC	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				99			5		0	0	0.014758	0	0
MGRN1	23295	broad.mit.edu	37	16	4702743	4702743	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:4702743G>T	uc002cxa.3	+	3	498	c.361G>T	c.(361-363)Gag>Tag	p.E121*	MGRN1_uc002cwz.3_Nonsense_Mutation_p.E121*|MGRN1_uc010uxo.2_Nonsense_Mutation_p.E121*|MGRN1_uc010uxp.2_Nonsense_Mutation_p.E121*|MGRN1_uc010btw.3_Nonsense_Mutation_p.E121*|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	121					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTACAGCCTGGAGTTCACCTT	0.662000														29			11		3.07112e-06	3.27816e-06	0.010729	1	0
RLTPR	146206	broad.mit.edu	37	16	67682073	67682073	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:67682073C>T	uc002etn.3	+	13	1310	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V	RLTPR_uc010cel.1_Missense_Mutation_p.A397V|RLTPR_uc010vjr.2_Intron	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	397										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)		ACCGGCAGGGCGGACTGGAGG	0.692000														31			11		0	0	0.010729	0	0
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	A	A	rs17851045		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:25380275T>A	uc001rgp.1	-	2	364	c.183A>T	c.(181-183)caA>caT	p.Q61H	KRAS_uc001rgq.1_Missense_Mutation_p.Q61H	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(361)|p.Q61L(71)|p.Q61R(56)|p.Q61K(32)|p.Q61P(12)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423000	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				112			74		0	0	0.014410	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														20			4		0	0	0.009096	0	0
FLNC	2318	broad.mit.edu	37	7	128477594	128477594	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:128477594A>G	uc003vnz.4	+	3	1051	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	FLNC_uc003voa.4_Missense_Mutation_p.Y281C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	281					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	p.A280T(1)		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						GCCATCGCCTATGGGCCTGGT	0.602000														85			59		0	0	0.014410	0	0
NEFH	4744	broad.mit.edu	37	22	29886317	29886317	+	Silent	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:29886317G>A	uc003afo.3	+	3	2759	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	902	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						AGAAGGAAGAGGCTGAAGATA	0.512000														37			13		0	0	0.016723	0	0
NLGN3	54413	broad.mit.edu	37	X	70389792	70389792	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:70389792C>T	uc004dzd.2	+	7	2726	c.2392C>T	c.(2392-2394)Cgc>Tgc	p.R798C	NLGN3_uc004dzb.3_Missense_Mutation_p.R778C|NLGN3_uc011mps.2_Missense_Mutation_p.R758C|NLGN3_uc004dzc.3_Missense_Mutation_p.R661C|NLGN3_uc004dze.3_Missense_Mutation_p.R596C	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	798					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	p.R778C(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GACCCTGCGGCGCTCCCCGGA	0.612000														22			6		0	0	0.001984	0	0
HCK	3055	broad.mit.edu	37	20	30672204	30672204	+	Silent	SNP	C	T	T	rs149487671	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr20:30672204C>T	uc002wxh.3	+	7	930	c.693C>T	c.(691-693)gaC>gaT	p.D231D	HCK_uc010gdy.3_Silent_p.D211D|HCK_uc021wbv.1_Silent_p.D210D|HCK_uc002wxi.3_Silent_p.D209D	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	231	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGGGAACGACGGGCTCTGCC	0.602000														54			19		0	0	0.006122	0	0
LRBA	987	broad.mit.edu	37	4	151791686	151791686	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:151791686G>C	uc010ipj.3	-	19	2684	c.2440C>G	c.(2440-2442)Caa>Gaa	p.Q814E	LRBA_uc003ilu.4_Missense_Mutation_p.Q814E	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	814						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CGAGGGTTTTGTATCTTCACT	0.313000														97			48		0	0	0.014410	0	0
DOPEY2	9980	broad.mit.edu	37	21	37609603	37609603	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr21:37609603G>C	uc002yvg.3	+	15	2745	c.2666G>C	c.(2665-2667)cGg>cCg	p.R889P	DOPEY2_uc011aeb.2_Intron	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	889					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						AAAGAGACCCGGGAGCATCAC	0.592000														119			7		0	0	0.001984	0	0
C14orf39	317761	broad.mit.edu	37	14	60945081	60945081	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr14:60945081C>T	uc001xez.4	-	4	370	c.260G>A	c.(259-261)cGt>cAt	p.R87H	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	87										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCATGTTTACGAAAAACATC	0.264000														85			18		0	0	0.004990	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									134			7		0	0	0.001984	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	RNA	SNP	G	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:45848224G>T	uc001zvn.1	+	3		c.978G>T			HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript					Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA.																		TGCAGATTTTGTTTAGCTTTT	0.318000														41			9		6.31663e-08	7.05976e-08	0.003163	1	0
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	245	---	---	10	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	101	---	---	7	---					
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338799	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr12:11338799delA	uc001qzr.1	-	0	745	c.745delT	c.(745-747)tccfs	p.S249fs	PRB4_uc001qzf.1_Intron	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	Homo sapiens taste receptor, type 2, member 42 (TAS2R42), mRNA.	249					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACTTGTAAGGAAAAAAAATGA	0.423													---	175	---	---	8	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:79918806_79918807insT	uc001vkz.2	-	14	2201_2202	c.2187_2188insA	c.(2185-2190)aaacagfs	p.K729fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.K700fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.K703fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.K439fs|RBM26_uc010tia.2_Frame_Shift_Ins_p.K84fs	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	727					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													---	129	---	---	7	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr13:108518687_108518689delCTG	uc001vql.3	-	0	772_774	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													---	110	---	---	10	---					
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:40328597_40328599delTGC	uc001zkq.2	-	4	418_420	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_uc001zkr.2_3'UTR|LOC100131089_uc021sjc.1_5'Flank|LOC100131089_uc021sjd.1_5'Flank|LOC100131089_uc021sje.1_5'Flank|LOC100131089_uc001zks.2_5'Flank	NM_003134	NP_003125	P37108	SRP14_HUMAN	Homo sapiens signal recognition particle 14kDa (homologous Alu RNA binding protein) (SRP14), mRNA.	116	Ala/Thr-rich.				SRP-dependent cotranslational protein targeting to membrane|negative regulation of translational elongation|response to drug	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478													---	199	---	---	12	---					
CGNL1	84952	broad.mit.edu	37	15	57823890	57823890	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr15:57823890delC	uc010bfw.3	+	14	3397	c.3204delC	c.(3202-3204)gacfs	p.D1068fs	CGNL1_uc002aeg.3_Frame_Shift_Del_p.D1068fs	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1068				D -> A (in Ref. 1; AAT37906).		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)		CTTCTTAGGACAAGGTGTCTC	0.448													---	248	---	---	64	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	TCC	TCC	rs61746014	by1000genomes	TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:2049882_2049883insTCC	uc002cof.1	-	10	1682_1683	c.1667_1668insGGA	c.(1666-1668)gac>gaGGAc	p.555_556insE	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	555						intracellular	zinc ion binding	p.E555_D556insE(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													---	10	---	---	6	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	491	---	---	7	---					
MYLPF	29895	broad.mit.edu	37	16	30389182	30389182	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr16:30389182delC	uc002dxv.1	+	6	527	c.471delC	c.(469-471)tgcfs	p.C157fs	ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA.	157	EF-hand 3.				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle			large_intestine(2)|lung(4)	6			Colorectal(24;0.193)			AAAACATCTGCTACGTCATCA	0.672													---	145	---	---	19	---					
LMAN1	3998	broad.mit.edu	37	18	57013194	57013194	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr18:57013194delT	uc002lhz.3	-	7	944	c.912delA	c.(910-912)aaafs	p.K304fs		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	304					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGAATTCCTCTTTTTTTTTAT	0.453													---	210	---	---	7	---					
CACNA1A	773	broad.mit.edu	37	19	13397337	13397338	+	Frame_Shift_Ins	INS	-	G	G			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:13397337_13397338insG	uc002mwy.3	-	19	3768_3769	c.3532_3533insC	c.(3532-3534)ctcfs	p.L1178fs	CACNA1A_uc010dzc.2_Frame_Shift_Ins_p.L704fs|CACNA1A_uc010xnd.2_Frame_Shift_Ins_p.L1181fs|CACNA1A_uc021ups.1_Frame_Shift_Ins_p.L1178fs|CACNA1A_uc010xne.2_Frame_Shift_Ins_p.L1181fs|CACNA1A_uc010dze.2_Frame_Shift_Ins_p.L1178fs|CACNA1A_uc021upt.1_Frame_Shift_Ins_p.L1179fs	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1179					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)	GGTGTGGTTGAGGGGGGGTGGG	0.629													---	20	---	---	9	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	254	---	---	9	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:20918817_20918819delCAG	uc002zsp.3	+	5	612_614	c.532_534delCAG	c.(532-534)cagdel	p.Q188del	MED15_uc002zsn.1_In_Frame_Del_p.Q107del|MED15_uc002zso.2_In_Frame_Del_p.Q117del|MED15_uc002zsq.3_In_Frame_Del_p.Q188del|MED15_uc010gso.3_In_Frame_Del_p.Q188del|MED15_uc002zsr.3_In_Frame_Del_p.Q162del|MED15_uc011ahs.2_In_Frame_Del_p.Q162del|MED15_uc011aht.1_In_Frame_Del_p.Q162del|MED15_uc002zss.3_In_Frame_Del_p.Q107del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	188	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	86	---	---	7	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chr22:38119882_38119884delCCT	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													---	237	---	---	7	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7922-01A-11D-2154-08	TCGA-HZ-7922-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd	e7c35b8d-64c7-479b-8b92-8afb9a6d23d0	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													---	217	---	---	8	---					
