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
IFT88	8100	broad.mit.edu	37	13	21189988	21189988	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189988T>A	uc001unh.3	+	15	1592	c.1196T>A	c.(1195-1197)aTt>aAt	p.I399N	IFT88_uc001uni.3_Missense_Mutation_p.I390N|IFT88_uc001unj.3_Missense_Mutation_p.I389N|IFT88_uc010tcq.2_Missense_Mutation_p.I370N|IFT88_uc001unk.3_Missense_Mutation_p.I145N|IFT88_uc001unl.1_Missense_Mutation_p.I17N	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	399					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		GCTCCTGTAATTGAAACATCT	0.279000													37	97					0	0	0.870114	0	0
EP400	57634	broad.mit.edu	37	12	132551479	132551479	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:132551479T>A	uc001ujn.3	+	48	8866	c.8714T>A	c.(8713-8715)aTc>aAc	p.I2905N	EP400_uc021rgq.1_Missense_Mutation_p.I2904N|EP400_uc001ujm.3_Missense_Mutation_p.I2824N|EP400_uc001ujp.3_Missense_Mutation_p.I115N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2941					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTCGCGGGGATCAGCGTGGCG	0.687000													26	41					0	0	0.760397	0	0
SMPD2	6610	broad.mit.edu	37	6	109764877	109764877	+	Silent	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:109764877A>G	uc003pti.3	+	9	1435	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	347					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632000													8	56					0	0	0.706142	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000													3	57					0	0	0.150653	0	0
SSX8	280659	broad.mit.edu	37	X	52654550	52654550	+	Splice_Site	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:52654550A>T	uc011moa.1	+	3		c.354_splice	c.e3-2		SSX8_uc011mob.1_Splice_Site					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TTTTTTTTTTAGGCCTTCAAT	0.413000													4	65					0	0	0.335167	0	0
PDCD6	10016	broad.mit.edu	37	5	311485	311485	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:311485G>A	uc003jat.1	+	4	545	c.445G>A	c.(445-447)Gac>Aac	p.D149N	AHRR_uc003jav.3_Intron|AHRR_uc003jaw.3_Intron|AHRR_uc010isy.3_Intron|PDCD6_uc003jau.1_Missense_Mutation_p.D179N	NM_013232	NP_037364	O75340	PDCD6_HUMAN	Homo sapiens programmed cell death 6 (PDCD6), mRNA.	149	EF-hand 4.				induction of apoptosis by extracellular signals|response to calcium ion	endoplasmic reticulum membrane|nuclear membrane	binding, bridging|calcium ion binding|calcium-dependent protein binding			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			GATTGCCTTCGACGACTTCAT	0.582000													33	105					0	0	0.819951	0	0
HCCS	3052	broad.mit.edu	37	X	11130140	11130140	+	Splice_Site	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:11130140T>G	uc004cul.2	+	2	139	c.-41_splice	c.e2-1		AY660578_uc004cui.1_5'Flank|HCCS_uc004cuk.3_Splice_Site|HCCS_uc004cuj.3_Splice_Site	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.						organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TTTTGGCAGGTGGAAATTTAA	0.448000											OREG0019665	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	131					0	0	0.870114	0	0
HERPUD1	9709	broad.mit.edu	37	16	56970652	56970652	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:56970652G>T	uc002eke.1	+	3	763	c.354G>T	c.(352-354)gaG>gaT	p.E118D	HERPUD1_uc010vhj.1_Missense_Mutation_p.E179D|HERPUD1_uc002ekf.1_Missense_Mutation_p.E117D|HERPUD1_uc002ekg.1_Missense_Mutation_p.E93D|HERPUD1_uc010cco.1_Missense_Mutation_p.E179D|HERPUD1_uc010ccp.1_Missense_Mutation_p.E178D|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	118						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AGTATCCTGAGGATTCCTCAA	0.443000			T	ERG	prostate								39	31					2.05212e-20	2.22313e-20	0.812448	1	0
OR2M1P	388762	broad.mit.edu	37	1	248285883	248285883	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:248285883C>A	uc001idy.1	+	0	446	c.446C>A	c.(445-447)tCc>tAc	p.S149Y						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		ATCATTGCTTCCTATGCTGGA	0.428000													35	119					2.09667e-21	2.29047e-21	0.788014	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	42					0	0	0.335167	0	0
XPOT	11260	broad.mit.edu	37	12	64803742	64803742	+	Splice_Site	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:64803742A>G	uc001ssb.3	+	2	433	c.-73_splice	c.e2-1		XPOT_uc009zqm.2_Splice_Site	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.						intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTTGTGGCAGATGTTTATAAA	0.353000													10	53					0	0	0.592651	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													7	28					0	0	0.335167	0	0
TBC1D9	23158	broad.mit.edu	37	4	141580761	141580761	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr4:141580761G>C	uc010ioj.3	-	10	2174	c.1902C>G	c.(1900-1902)taC>taG	p.Y634*		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	634	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGTGTTGTAGTAATCTGGGA	0.458000													2	3					0	0	0.115264	0	0
C5orf51	285636	broad.mit.edu	37	5	41911262	41911262	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:41911262A>T	uc003jmo.3	+	3	467	c.467A>T	c.(466-468)aAa>aTa	p.K156I		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	156										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTCTTAAGAAAATCCAGTTTG	0.383000													6	3					0	0	0.248553	0	0
NOX1	27035	broad.mit.edu	37	X	100099033	100099033	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:100099033T>C	uc004egj.3	-	12	1809	c.1603A>G	c.(1603-1605)Act>Gct	p.T535A	NOX1_uc004egl.4_Missense_Mutation_p.T486A|NOX1_uc010nne.3_Missense_Mutation_p.T498A	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	535	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TTTGCCAAAGTCCGAGGGCCA	0.433000													13	19					0	0	0.411799	0	0
OR10H2	26538	broad.mit.edu	37	19	15839311	15839311	+	Missense_Mutation	SNP	C	C	T	rs139469467		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:15839311C>T	uc002nbm.2	+	0	478	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCTGGTGGCTCGGTCATGGGG	0.592000													4	156					0	0	0.217242	0	0
NSUN2	54888	broad.mit.edu	37	5	6616902	6616902	+	Missense_Mutation	SNP	G	G	T	rs138724893		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:6616902G>T	uc003jdu.3	-	8	1340	c.959C>A	c.(958-960)aCg>aAg	p.T320K	NSUN2_uc003jdt.3_Missense_Mutation_p.T84K|NSUN2_uc011cmk.2_Missense_Mutation_p.T285K|NSUN2_uc003jdv.3_Missense_Mutation_p.T84K	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	320						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.T320M(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TAGTGAACACGTGGAATACAC	0.468000													33	44					4.65686e-17	4.96223e-17	0.788014	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110454361	110454361	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:110454361C>G	uc001pkz.1	-	13	1801	c.1516G>C	c.(1516-1518)Gca>Cca	p.A506P	ARHGAP20_uc001pky.1_Missense_Mutation_p.A483P|ARHGAP20_uc009yyb.1_Missense_Mutation_p.A470P|ARHGAP20_uc001pla.1_Missense_Mutation_p.A470P|ARHGAP20_uc001plb.2_Missense_Mutation_p.A49P	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	506	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AAATTAAATGCAGTCATCTGA	0.418000													3	4					0	0	0.115264	0	0
ALS2	57679	broad.mit.edu	37	2	202626257	202626257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:202626257G>A	uc002uyo.3	-	3	816	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	ALS2_uc002uyp.4_Nonsense_Mutation_p.Q154*|ALS2_uc002uyq.3_Nonsense_Mutation_p.Q154*|ALS2_uc002uyr.3_Nonsense_Mutation_p.Q154*	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	154					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CACGCCAACTGTAAAATCCTG	0.522000													51	59					0	0	0.870114	0	0
MST1P2	11209	broad.mit.edu	37	1	16974893	16974893	+	RNA	SNP	C	C	T	rs142845834	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:16974893C>T	uc010och.2	+	6		c.1353C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCGCACAAGCCGCAGTGAATC	0.677000													5	185					0	0	0.217242	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115608965	115608965	+	Silent	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:115608965A>G	uc001law.2	-	1	2817	c.1899T>C	c.(1897-1899)cgT>cgC	p.R633R		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	633					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTTTTTTTGACGCTGTGACC	0.368000								Other identified genes with known or suspected DNA repair function					77	127					0	0	0.870114	0	0
SLC12A8	84561	broad.mit.edu	37	3	124896700	124896700	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:124896700C>T	uc003ehw.4	-	4	666	c.596G>A	c.(595-597)gGc>gAc	p.G199D	SLC12A8_uc003ehv.4_Missense_Mutation_p.G170D|SLC12A8_uc010hrz.1_Missense_Mutation_p.G35D	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	170					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GAGGTTAATGCCCAGCAAGGC	0.542000													4	170					0	0	0.184627	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	41					0	0	0.335167	0	0
CLMN	79789	broad.mit.edu	37	14	95669398	95669398	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr14:95669398T>C	uc001yef.2	-	8	2404	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	763						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTCTGGCATATAGCCCTCTGG	0.567000													69	108					0	0	0.870114	0	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:8420609T>G	uc001ape.3	-	18	3768	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_uc001apf.3_Silent_p.P986P|RERE_uc010nzx.1_Silent_p.P718P|RERE_uc001apd.3_Silent_p.P432P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	986	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(8)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000													15	83					0	0	0.681144	0	0
MAOA	4128	broad.mit.edu	37	X	43590945	43590945	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:43590945A>C	uc004dfy.3	+	7	981	c.800A>C	c.(799-801)aAa>aCa	p.K267T	MAOA_uc011mkw.2_Missense_Mutation_p.K134T	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	267					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TTTTAGTGCAAATACGTAATT	0.418000													27	53					0	0	0.706142	0	0
MYBPC1	4604	broad.mit.edu	37	12	102038482	102038482	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:102038482A>T	uc001tii.3	+	9	938	c.798A>T	c.(796-798)aaA>aaT	p.K266N	MYBPC1_uc001tif.2_Missense_Mutation_p.K279N|MYBPC1_uc001tig.3_Missense_Mutation_p.K291N|MYBPC1_uc010svr.2_Missense_Mutation_p.K266N|MYBPC1_uc010svs.2_Missense_Mutation_p.K266N|MYBPC1_uc001tij.3_Missense_Mutation_p.K266N|MYBPC1_uc010svt.2_Missense_Mutation_p.K254N|MYBPC1_uc010svu.2_Missense_Mutation_p.K247N|MYBPC1_uc001tik.3_Missense_Mutation_p.K240N|MYBPC1_uc001tih.3_Missense_Mutation_p.K291N|MYBPC1_uc010svq.2_Missense_Mutation_p.K253N	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	266	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGGTTGACAAAGGAGGCAGAG	0.368000													14	34					0	0	0.500413	0	0
DTX3L	151636	broad.mit.edu	37	3	122283388	122283388	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:122283388G>T	uc003efk.3	+	0	204	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	DTX3L_uc010hrj.3_Missense_Mutation_p.G39W|PARP9_uc003eff.4_5'Flank|PARP9_uc010hri.3_5'Flank|PARP9_uc011bjs.2_5'Flank|PARP9_uc003efg.3_5'Flank|PARP9_uc003efi.3_5'UTR|PARP9_uc003efh.3_5'UTR|PARP9_uc003efj.2_5'Flank	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	39					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CTCGGGCGGCGGGGAGTGCAC	0.672000													52	233					6.56871e-35	7.36149e-35	0.870114	1	0
C17orf62	79415	broad.mit.edu	37	17	80401837	80401837	+	Silent	SNP	T	T	C	rs11557531	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:80401837T>C	uc002kex.3	-	1	904	c.162A>G	c.(160-162)ccA>ccG	p.P54P	C17orf62_uc002key.3_Silent_p.P54P|C17orf62_uc021ufq.1_3'UTR|C17orf62_uc010dir.3_3'UTR|C17orf62_uc021ufr.1_Silent_p.P54P|C17orf62_uc021ufs.1_3'UTR|C17orf62_uc002kfb.4_3'UTR|C17orf62_uc002kfc.4_3'UTR|C17orf62_uc002kfd.4_Silent_p.P54P|C17orf62_uc002kfa.3_3'UTR|C17orf62_uc002kfe.4_Silent_p.P54P|C17orf62_uc021uft.1_3'UTR|C17orf62_uc021ufu.1_Silent_p.P54P			Q9BQA9	CQ062_HUMAN	Homo sapiens chromosome 17 open reading frame 62 (C17orf62), transcript variant 11, non-coding RNA.	0						integral to membrane	protein binding	p.P92P(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAATGTGCCATGGGTCCTGTG	0.687000													26	887					0	0	0.717897	0	0
FCGBP	8857	broad.mit.edu	37	19	40366038	40366038	+	Silent	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:40366038C>G	uc002omp.4	-	29	14204	c.14196G>C	c.(14194-14196)ccG>ccC	p.P4732P		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4732						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGAAGTCCGGCCGCCTCC	0.647000													44	85					0	0	0.870114	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000													4	115					0	0	0.150653	0	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	G	A	rs28526603	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:16974745G>A	uc010och.2	+	6		c.1205G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGGAACCGGAGGGCCGGGG	0.711000													5	50					0	0	0.248553	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122042681	122042681	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:122042681A>T	uc002tmx.3	-	0	98	c.5T>A	c.(4-6)cTc>cAc	p.L2H	TFCP2L1_uc010flr.3_Missense_Mutation_p.L2H	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	2	Mediate transcriptional repression.				female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GTGCCAGAAGAGCATGGCTGG	0.756000													13	8					0	0	0.520397	0	0
RNF128	79589	broad.mit.edu	37	X	105970391	105970391	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:105970391T>G	uc004eml.3	+	0	498	c.248T>G	c.(247-249)gTc>gGc	p.V83G	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	83	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGGCTGGGGTCCTGGTACCG	0.672000													6	35					0	0	0.819951	0	0
SEC31B	25956	broad.mit.edu	37	10	102255181	102255181	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:102255181C>G	uc001krc.1	-	18	2535	c.2433G>C	c.(2431-2433)gaG>gaC	p.E811D	SEC31B_uc010qpo.1_Missense_Mutation_p.E810D|SEC31B_uc001krd.1_Missense_Mutation_p.E348D|SEC31B_uc001krf.1_Missense_Mutation_p.E348D|SEC31B_uc001kre.1_Missense_Mutation_p.E348D|SEC31B_uc001krg.1_Missense_Mutation_p.E380D	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	811					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGATGATGTCTCTTTAGAGT	0.488000													13	13					0	0	0.500413	0	0
GHDC	84514	broad.mit.edu	37	17	40344972	40344972	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344972C>T	uc002hzd.3	-	2	823	c.339G>A	c.(337-339)caG>caA	p.Q113Q	GHDC_uc002hzg.2_Silent_p.Q113Q|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Silent_p.Q113Q|GHDC_uc002hzf.4_Silent_p.Q113Q|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	113						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGGGCAGTGGCTGCTCTCCAC	0.592000													243	242					0	0	0.870114	0	0
KRT9	3857	broad.mit.edu	37	17	39724451	39724451	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:39724451T>G	uc002hxe.4	-	5	1423	c.1357A>C	c.(1357-1359)Acc>Ccc	p.T453P	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	453	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TTGTGGTAGGTCTCGATTTCC	0.557000													16	119					0	0	0.870114	0	0
SLAIN2	57606	broad.mit.edu	37	4	48422364	48422364	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr4:48422364G>A	uc003gya.4	+	6	1727	c.1583G>A	c.(1582-1584)gGg>gAg	p.G528E		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	528						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AGACCTGCAGGGACAACTGCA	0.557000													4	99					0	0	0.150653	0	0
TMEM214	54867	broad.mit.edu	37	2	27259433	27259433	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27259433T>G	uc002ria.4	+	5	909	c.799T>G	c.(799-801)Ttt>Gtt	p.F267V	TMEM214_uc002rib.4_Missense_Mutation_p.F222V	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	267						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCAAGCAGGTTTTGCCAACCT	0.567000													152	377					0	0	0.870114	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrGL000205.1:118572G>A	uc002kgk.4	+	0		c.1950G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GGCCTTTTTAGCTGATTCCGG	0.398000													12	62					0	0	0.387290	0	0
CREBBP	1387	broad.mit.edu	37	16	3808859	3808859	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:3808859A>G	uc002cvv.3	-	16	3569	c.3365T>C	c.(3364-3366)aTt>aCt	p.I1122T	CREBBP_uc002cvw.3_Missense_Mutation_p.I1084T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1122	Bromo.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1121*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTACTGGAATTCCGAGGAG	0.438000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						13	41					0	0	0.435327	0	0
BC139719	0	broad.mit.edu	37	16	90161609	90161609	+	Missense_Mutation	SNP	A	A	G	rs139928438	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:90161609A>G	uc002fqq.3	+	3	535	c.535A>G	c.(535-537)Agt>Ggt	p.S179G	BC139719_uc002fqp.3_Missense_Mutation_p.S162G					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		TGATGGAGTCAGTGATGGACG	0.617000													4	101					0	0	0.307466	0	0
LILRB2	10288	broad.mit.edu	37	19	54783677	54783677	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:54783677C>T	uc002qfb.3	-	3	590	c.324G>A	c.(322-324)gaG>gaA	p.E108E	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.E108E|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.E108E|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.S107C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCACTGAGCTCAGACCACC	0.602000													98	218					0	0	0.870114	0	0
GPR45	11250	broad.mit.edu	37	2	105858582	105858582	+	Silent	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:105858582C>G	uc002tco.1	+	0	383	c.267C>G	c.(265-267)ccC>ccG	p.P89P		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCTGCATGCCCTTCACCGCCG	0.627000													202	216					0	0	0.870114	0	0
FCGBP	8857	broad.mit.edu	37	19	40396045	40396045	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:40396045G>C	uc002omp.4	-	14	7360	c.7352C>G	c.(7351-7353)aCc>aGc	p.T2451S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2451						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGGTGGTAGAGCCCAC	0.687000													6	89					0	0	0.248553	0	0
LRRC25	126364	broad.mit.edu	37	19	18507298	18507298	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:18507298G>T	uc002niw.3	-	0	1118	c.476C>A	c.(475-477)cCt>cAt	p.P159H	LRRC25_uc002nix.3_Missense_Mutation_p.P159H	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	159						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGCCAGGCCAGGGGCGCAGCT	0.642000													5	109					0.00198382	0.0019992	0.248553	1	0
PLEKHJ1	55111	broad.mit.edu	37	19	2234038	2234038	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:2234038G>T	uc002lvf.1	-	4	1047	c.343C>A	c.(343-345)Ctc>Atc	p.L115I	SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	115							protein binding			endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGAAGATGAGGCTTCTCCGC	0.642000													146	287					8.40228e-78	9.49823e-78	0.870114	1	0
NDUFB11	54539	broad.mit.edu	37	X	47002143	47002143	+	Splice_Site	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:47002143T>G	uc004dhc.3	-	2	739	c.208_splice	c.e2-1	p.N70_splice	NDUFB11_uc004dhd.3_Splice_Site_p.N70_splice|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	70					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGTCTGGGTTCTGTGGAGAA	0.512000													7	161					0	0	0.248553	0	0
SLC43A3	29015	broad.mit.edu	37	11	57188512	57188512	+	Missense_Mutation	SNP	C	C	T	rs148055054		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:57188512C>T	uc010rjr.2	-	6	845	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLC43A3_uc001nke.3_Missense_Mutation_p.R54H|SLC43A3_uc001nkg.3_Missense_Mutation_p.R155H|SLC43A3_uc001nkh.3_Missense_Mutation_p.R155H|SLC43A3_uc009yme.3_Missense_Mutation_p.R155H|SLC43A3_uc001nki.3_Missense_Mutation_p.R155H|SLC43A3_uc009ymf.1_Missense_Mutation_p.R155H|SLC43A3_uc010rjs.1_Missense_Mutation_p.R155H|SLC43A3_uc009ymg.1_Missense_Mutation_p.R168H	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	155					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GATGGTCGAACGGTGTTGGCC	0.448000													33	43					0	0	0.760397	0	0
CAV2	858	broad.mit.edu	37	7	116140377	116140377	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:116140377T>A	uc003vid.3	+	1	395	c.214T>A	c.(214-216)Tgc>Agc	p.C72S	CAV1_uc010lkc.2_Non-coding_Transcript|CAV1_uc003vhv.2_Intron|CAV1_uc003vhw.2_Intron|CAV1_uc003vhx.2_Intron|CAV1_uc010lkb.1_Intron|CAV1_uc003vhz.2_Non-coding_Transcript|CAV1_uc003via.2_Non-coding_Transcript|CAV1_uc003vib.2_Intron|CAV1_uc010lke.2_Intron|CAV1_uc010lkd.2_Intron|CAV2_uc003vie.3_Intron|CAV2_uc022akj.1_5'UTR	NM_001233	NP_001193676	P51636	CAV2_HUMAN	Homo sapiens caveolin 2 (CAV2), transcript variant 1, mRNA.	72					caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	Golgi membrane|caveola|extrinsic to internal side of plasma membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			AGTGTGGATCTGCAGCCATGC	0.542000													78	226					0	0	0.870114	0	0
ST3GAL4	6484	broad.mit.edu	37	11	126276866	126276866	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:126276866G>C	uc001qdx.1	+	1	114	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	ST3GAL4_uc001qds.3_Missense_Mutation_p.E44Q|ST3GAL4_uc001qdu.3_Missense_Mutation_p.E40Q|ST3GAL4_uc021qry.1_Missense_Mutation_p.E44Q|ST3GAL4_uc009zce.3_Missense_Mutation_p.E40Q|ST3GAL4_uc001qdw.3_Missense_Mutation_p.E43Q|ST3GAL4_uc001qdz.3_5'Flank			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	44					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AGAGAAGAAGGAGCCGTGCCT	0.547000													122	206					0	0	0.870114	0	0
CGREF1	10669	broad.mit.edu	37	2	27327221	27327221	+	Missense_Mutation	SNP	G	G	T	rs112618911	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:27327221G>T	uc010eyr.2	-	0	385	c.380C>A	c.(379-381)aCg>aAg	p.T127K	CGREF1_uc010ylf.2_Intron|CGREF1_uc021vez.1_Missense_Mutation_p.T5K|CGREF1_uc002riq.3_Missense_Mutation_p.T5K|CGREF1_uc021vfa.1_Missense_Mutation_p.T5K|CGREF1_uc010eys.2_Missense_Mutation_p.T5K|CGREF1_uc002rir.2_Missense_Mutation_p.T5K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	5	EF-hand 2.				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567000													34	88					1.22384e-17	1.31486e-17	0.769981	1	0
NUCB1	4924	broad.mit.edu	37	19	49422348	49422348	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:49422348G>A	uc002plb.4	+	8	1212	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	NUCB1_uc002pla.3_Missense_Mutation_p.R293Q|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	293	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGGAGCGACTGCGCATG	0.612000													37	63					0	0	0.819951	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													4	102					0	0	0.184627	0	0
ZFHX3	463	broad.mit.edu	37	16	72984698	72984698	+	Silent	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:72984698G>A	uc002fck.3	-	2	3559	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	ZFHX3_uc002fcl.3_Silent_p.G48G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	962					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCATGTGCAGGCCCAGCATGT	0.607000													46	164					0	0	0.870114	0	0
SSX8	280659	broad.mit.edu	37	X	52655349	52655349	+	RNA	SNP	T	T	A	rs34990448	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:52655349T>A	uc011moa.1	+	3		c.476T>A			SSX8_uc011mob.1_Non-coding_Transcript					Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.																		TAGGTTTCAATGTCACCCTCC	0.468000													6	180					0	0	0.217242	0	0
ESF1	51575	broad.mit.edu	37	20	13695769	13695769	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:13695769A>T	uc002woj.3	-	13	2416	c.2308T>A	c.(2308-2310)Ttg>Atg	p.L770M		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	770	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.L770F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						AAATTGAACAAGTGGGAAGTG	0.348000													34	45					0	0	0.779181	0	0
MEGF10	84466	broad.mit.edu	37	5	126753406	126753406	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:126753406G>A	uc003kuh.4	+	10	1569	c.1207G>A	c.(1207-1209)Gga>Aga	p.G403R	MEGF10_uc010jdc.1_Missense_Mutation_p.G403R|MEGF10_uc010jdd.1_Missense_Mutation_p.G403R|MEGF10_uc003kui.4_Missense_Mutation_p.G403R	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	403	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTTCTCCTGGATTCTACGG	0.532000													44	49					0	0	0.840704	0	0
TTC35	9694	broad.mit.edu	37	8	109498794	109498794	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:109498794C>G	uc003ymw.1	+	10	896	c.861C>G	c.(859-861)gaC>gaG	p.D287E		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	287						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			CTGTCGAAGACATGTTGGAAA	0.338000													3	15					0	0	0.115264	0	0
UBA2	10054	broad.mit.edu	37	19	34921484	34921484	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:34921484G>C	uc002nvk.3	+	1	212	c.142G>C	c.(142-144)Gat>Cat	p.D48H	UBA2_uc010xrx.1_Intron|UBA2_uc002nvl.3_5'UTR	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	48					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTGTAGATTGATCTGGATAC	0.358000													45	89					0	0	0.864702	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:95522772T>C	uc010fhp.3	-	0		c.49A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.									p.E49G(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGCTCCACCTCCGCGGCGTC	0.682000													3	169					0	0	0.361761	0	0
IL28A	282616	broad.mit.edu	37	19	39759377	39759377	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:39759377G>C	uc002oku.1	+	1	123	c.71G>C	c.(70-72)gGa>gCa	p.G24A		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	24					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACCGTGACTGGAGCAGTTCCT	0.622000													4	105					0	0	0.335167	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505196	26505196	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:26505196T>A	uc003xfb.2	+	10	1592	c.1161T>A	c.(1159-1161)aaT>aaA	p.N387K	DPYSL2_uc003xfa.3_Missense_Mutation_p.N492K|DPYSL2_uc011lah.2_Missense_Mutation_p.N351K	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	387					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCAGCACCAATGCAGCCAAAG	0.552000													104	59					0	0	0.870114	0	0
AK300121	0	broad.mit.edu	37	12	52646152	52646152	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:52646152C>T	uc010snr.1	-	6	984	c.636G>A	c.(634-636)caG>caA	p.Q212Q	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		AGGCCATGTCCTGCTTGGCCT	0.657000													5	206					0	0	0.248553	0	0
EP300	2033	broad.mit.edu	37	22	41543893	41543893	+	Silent	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr22:41543893G>A	uc003azl.4	+	11	2579	c.2184G>A	c.(2182-2184)cgG>cgA	p.R728R		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	728					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGTACCCCGGCAAACCCCTC	0.478000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				4	154					0	0	0.248553	0	0
KDM4B	23030	broad.mit.edu	37	19	5131903	5131903	+	Silent	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:5131903G>C	uc010xim.2	+	12	2001	c.1893G>C	c.(1891-1893)ccG>ccC	p.P631P	KDM4B_uc002mbq.4_Silent_p.P597P|KDM4B_uc002mbr.4_Silent_p.P355P	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	597					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TTCAGGCACCGTCCACATTTT	0.652000													15	49					0	0	0.539581	0	0
KNTC1	9735	broad.mit.edu	37	12	123105091	123105091	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:123105091C>T	uc001ucv.3	+	59	6378	c.6215C>T	c.(6214-6216)cCg>cTg	p.P2072L	KNTC1_uc010taf.2_Missense_Mutation_p.P997L|HCAR1_uc001ucw.1_Non-coding_Transcript	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	2072					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.P2072S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTAGAACTTCCGGCTTTTGCA	0.458000													3	45					0	0	0.150653	0	0
FBXO22	26263	broad.mit.edu	37	15	76196905	76196905	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:76196905G>A	uc002bbk.3	+	1	319	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FBXO22_uc002bbj.2_Missense_Mutation_p.G72S|FBXO22_uc002bbl.3_Intron	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	72					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATCTCCGCAGGCCTGGCGGA	0.602000													59	175					0	0	0.870114	0	0
PLG	5340	broad.mit.edu	37	6	161152867	161152867	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:161152867C>A	uc003qtm.4	+	11	1641	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	510	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCCCAGGAGCCCCATAGACAC	0.527000													4	96					0.00024832	0.000256203	0.150653	1	0
TLN1	7094	broad.mit.edu	37	9	35711016	35711016	+	Silent	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:35711016C>T	uc003zxt.2	-	30	4437	c.4083G>A	c.(4081-4083)aaG>aaA	p.K1361K		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1361	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TATCACACTCCTTCTGGCCGG	0.532000													42	115					0	0	0.847076	0	0
AKNA	80709	broad.mit.edu	37	9	117139572	117139572	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:117139572A>C	uc004biq.3	-	1	650	c.515T>G	c.(514-516)gTg>gGg	p.V172G	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.V91G|AKNA_uc004bir.3_Missense_Mutation_p.V172G|AKNA_uc004bis.3_Missense_Mutation_p.V172G|AKNA_uc010mve.2_Missense_Mutation_p.V53G|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.V172G|AKNA_uc004biw.1_Missense_Mutation_p.V172G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCCAGAAGCCACCCAGCCCCT	0.592000													8	101					0	0	0.750413	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454852	37454852	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:37454852G>A	uc002rpz.3	-	1	1514	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	495					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTGGGAATAAGGGTATGCCCT	0.368000													18	12					0	0	0.557998	0	0
NDUFA10	4705	broad.mit.edu	37	2	240922951	240922951	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:240922951A>T	uc010fzc.2	-	10	1374	c.1273T>A	c.(1273-1275)Ttt>Att	p.F425I	NDUFA10_uc002vyn.3_Intron	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AGGAACATAAAGGCTGTGGTG	0.453000													6	9					0	0	0.248553	0	0
SETD1A	9739	broad.mit.edu	37	16	30974861	30974861	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:30974861G>C	uc002ead.1	+	4	1311	c.625G>C	c.(625-627)Gca>Cca	p.A209P	SETD1A_uc002eae.1_Missense_Mutation_p.A209P	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGCTCGGGTGCAGCCACTGA	0.577000													13	127					0	0	0.870114	0	0
MST1P2	11209	broad.mit.edu	37	1	16974677	16974677	+	RNA	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:16974677C>T	uc010och.2	+	6		c.1137C>T			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GTTGTACAGACGACGTGCGGC	0.697000													6	126					0	0	0.457914	0	0
ZNF665	79788	broad.mit.edu	37	19	53668284	53668284	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:53668284T>A	uc010eqm.1	-	3	1559	c.1459A>T	c.(1459-1461)Aag>Tag	p.K487*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCATCACACTTGTAAGGTTTC	0.413000													66	138					0	0	0.870114	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr10:26880266G>A	uc001ist.3	+	1		c.501G>A								Homo sapiens long intergenic non-protein coding RNA 264 (LINC00264), non-coding RNA.																		ACCAAGCCCAGTGGACAGATG	0.443000													5	16					0	0	0.184627	0	0
SF3B3	23450	broad.mit.edu	37	16	70569300	70569300	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:70569300C>T	uc002ezf.3	+	5	1013	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	SNORD111_uc002ezg.1_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	268					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	p.R268C(2)|p.R268S(2)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCCAGATATCCGCTGTCCAAT	0.413000													5	256					0	0	0.184627	0	0
RYR1	6261	broad.mit.edu	37	19	39039030	39039030	+	Silent	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:39039030T>C	uc002oit.3	+	88	12382	c.12252T>C	c.(12250-12252)cgT>cgC	p.R4084R	RYR1_uc002oiu.3_Silent_p.R4079R|RYR1_uc002oiv.1_Silent_p.R993R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4084					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGGATCCCCGTGGCCTCATCT	0.557000													77	166					0	0	0.870114	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:39261693A>T	uc010wfp.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													8	92					0	0	0.457914	0	0
ACAD10	80724	broad.mit.edu	37	12	112174685	112174685	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:112174685T>A	uc009zvx.3	+	12	1884	c.1684T>A	c.(1684-1686)Tat>Aat	p.Y562N	ACAD10_uc001tsp.3_Missense_Mutation_p.Y531N|ACAD10_uc001tsq.3_Missense_Mutation_p.Y531N|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	531							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGCAGAGGAGTATTTCAGGAT	0.502000													45	70					0	0	0.859065	0	0
FAM131A	131408	broad.mit.edu	37	3	184059533	184059533	+	Missense_Mutation	SNP	G	G	A	rs144342853	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:184059533G>A	uc003foe.3	+	2	396	c.253G>A	c.(253-255)Gcg>Acg	p.A85T	FAM131A_uc003foc.3_5'UTR|FAM131A_uc003fog.3_5'UTR	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	0						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACACAGTCGCGATGCTGCC	0.577000													5	161					0	0	0.184627	0	0
CAP2	10486	broad.mit.edu	37	6	17507928	17507928	+	Silent	SNP	T	T	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr6:17507928T>C	uc003ncb.3	+	5	744	c.501T>C	c.(499-501)acT>acC	p.T167T	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.T141T|CAP2_uc011djb.2_Intron|CAP2_uc011djc.2_Intron|CAP2_uc011djd.2_Intron	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	167					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCTTTTACACTAACAGGGTCT	0.413000													40	69					0	0	0.864702	0	0
GHDC	84514	broad.mit.edu	37	17	40344945	40344945	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344945G>T	uc002hzd.3	-	2	850	c.366C>A	c.(364-366)gaC>gaA	p.D122E	GHDC_uc002hzg.2_Missense_Mutation_p.D122E|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Missense_Mutation_p.D122E|GHDC_uc002hzf.4_Missense_Mutation_p.D122E|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	122						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCTCCCCAAGGTCCTGGTTTG	0.607000													202	275					9.50237e-82	1.0836e-81	0.870114	1	0
ZCCHC6	79670	broad.mit.edu	37	9	88940291	88940291	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr9:88940291G>C	uc004aou.3	-	11	1885	c.1747C>G	c.(1747-1749)Cgg>Ggg	p.R583G	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.R583G|ZCCHC6_uc004aot.3_Missense_Mutation_p.R460G|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	583	PAP-associated 1.				RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCAATTCCCGAGATACCAAT	0.403000													10	17					0	0	0.387290	0	0
IFT88	8100	broad.mit.edu	37	13	21189985	21189985	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr13:21189985T>G	uc001unh.3	+	15	1589	c.1193T>G	c.(1192-1194)gTa>gGa	p.V398G	IFT88_uc001uni.3_Missense_Mutation_p.V389G|IFT88_uc001unj.3_Missense_Mutation_p.V388G|IFT88_uc010tcq.2_Missense_Mutation_p.V369G|IFT88_uc001unk.3_Missense_Mutation_p.V144G|IFT88_uc001unl.1_Missense_Mutation_p.V16G	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	398					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATTGCTCCTGTAATTGAAACA	0.279000													39	96					0	0	0.870114	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674415	71674415	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:71674415T>A	uc002fau.3	+	2	781	c.718T>A	c.(718-720)Tac>Aac	p.Y240N	PHLPP2_uc002fav.3_Intron|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	240	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGGGAACAACTACTACTCACC	0.572000													69	194					0	0	0.870114	0	0
TAS1R1	80835	broad.mit.edu	37	1	6638984	6638985	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:6638984_6638985insT	uc001ant.3	+	5	1962_1963	c.1866_1867insT	c.(1864-1869)ttctttfs	p.F622fs	TAS1R1_uc001anu.3_Frame_Shift_Ins_p.F368fs|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	622					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTATGGCTTCTTTGGGGAACC	0.599													32	132	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	GGGACTGGGGCCGGGACCGGGACC	-	rs66614970	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:26608820_26608843delGGGACTGGGGCCGGGACCGGGACC	uc001blw.3	-	15	1783_1806	c.1510_1533delGGTCCCGGTCCCGGCCCCAGTCCC	c.(1510-1533)ggtcccggtcccggccccagtcccdel	p.GPGPGPSP504del	UBXN11_uc001bly.3_In_Frame_Del_p.GPGPGPSP384del|UBXN11_uc001blz.1_Splice_Site_p.I469_splice|UBXN11_uc001blx.3_In_Frame_Del_p.GPGPGPSP262del|UBXN11_uc001bma.3_In_Frame_Del_p.GPGPGPSP471del	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	504	3 X 8 AA tandem repeats of P-G-P-G-P-G-P- S.|Pro-rich.					cytoplasm|cytoskeleton		p.P503_G504insCP(2)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						gtccaggacagggactggggccgggaccgggaccgggactgggg	0.714													31	178	---	---	---	---					
ADC	113451	broad.mit.edu	37	1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:33583680_33583681insC	uc009vug.3	+	7	1339_1340	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	ADC_uc001bwr.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bws.3_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGGACCCAGGCCTGCCACATC	0.614													8	242	---	---	---	---					
CAP1	10487	broad.mit.edu	37	1	40535489	40535490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:40535489_40535490insG	uc009vvz.3	+	8	1150_1151	c.936_937insG	c.(934-939)aaacgafs	p.K312fs	CAP1_uc010oje.2_Frame_Shift_Ins_p.K229fs|CAP1_uc001cfa.4_Frame_Shift_Ins_p.K312fs|CAP1_uc001cey.4_Frame_Shift_Ins_p.K312fs|CAP1_uc001cez.4_Frame_Shift_Ins_p.K312fs	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	312					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATCCCCCAAACGAGCCACAAA	0.505													9	147	---	---	---	---					
WDR78	79819	broad.mit.edu	37	1	67390432	67390433	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:67390432_67390433insG	uc001dcx.3	-	0	138_139	c.82_83insC	c.(82-84)caafs	p.Q28fs	WDR78_uc001dcy.3_Frame_Shift_Ins_p.Q28fs|MIER1_uc001dda.4_5'Flank|MIER1_uc010opf.1_5'Flank|MIER1_uc009way.2_5'Flank|MIER1_uc010opg.1_5'Flank|MIER1_uc001ddf.2_5'Flank|MIER1_uc001ddc.2_5'Flank|MIER1_uc001ddg.2_5'Flank|MIER1_uc001ddh.2_5'Flank|MIER1_uc001dde.2_5'Flank	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	28										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCCCTTTTTTTGGCCGCCTCTG	0.644													13	357	---	---	---	---					
AMPD2	271	broad.mit.edu	37	1	110167929	110167930	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:110167929_110167930insC	uc009wfh.1	+	2	800_801	c.258_259insC	c.(256-261)gctcggfs	p.A86fs	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Frame_Shift_Ins_p.A5fs|AMPD2_uc001dyc.1_Frame_Shift_Ins_p.A86fs|AMPD2_uc010ovr.1_Intron|AMPD2_uc010ovs.1_5'UTR|AMPD2_uc001dyd.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	86					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCAGAGGCTCGGGGTGGTCT	0.703													22	114	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr1:214557049_214557051delCCT	uc001hkk.2	-	12	2800_2802	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(2)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													8	233	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:29295647_29295649delTCC	uc002rmt.2	-	0	1479_1481	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	493					response to stimulus|visual perception	photoreceptor outer segment		p.E492K(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													8	789	---	---	---	---					
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr2:241631786delG	uc002vzu.3	+	1	488	c.419delG	c.(418-420)agcfs	p.S140fs	AQP12A_uc002vzv.3_Non-coding_Transcript	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	140						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692													3	3	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr3:137880741_137880743delTCG	uc003erv.3	-	7	1777_1779	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_uc003eru.3_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.3_In_Frame_Del_p.309_310DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	541						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													8	348	---	---	---	---					
FGFR3	2261	broad.mit.edu	37	4	1807542	1807543	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr4:1807542_1807543insG	uc003gdr.3	+	12	1967_1968	c.1711_1712insG	c.(1711-1713)cggfs	p.R571fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.R573fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.R459fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.R572fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	571	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	gcgggcgcggcggcccccgggc	0.703		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				8	337	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134072600	134072601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr4:134072600_134072601insC	uc003iha.3	+	0	2131_2132	c.1305_1306insC	c.(1303-1308)gctcggfs	p.A435fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Ins_p.A435fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	435	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A435A(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGTAGTGGCTCGGGACCGGGG	0.594													8	604	---	---	---	---					
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:44388715_44388717delAGC	uc003jog.1	-	0	68_70	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	23					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	247	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr5:137680780_137680781insG	uc003lcv.3	+	3	873_874	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_uc003lcw.3_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													9	490	---	---	---	---					
URGCP	55665	broad.mit.edu	37	7	43916495	43916495	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:43916495delC	uc003tiw.3	-	5	2624	c.2567delG	c.(2566-2568)ggcfs	p.G856fs	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Frame_Shift_Del_p.G813fs|URGCP_uc003tiv.3_Frame_Shift_Del_p.G781fs|URGCP_uc003tix.3_Frame_Shift_Del_p.G847fs|URGCP_uc003tiy.3_Frame_Shift_Del_p.G813fs|URGCP_uc003tiz.3_Frame_Shift_Del_p.G813fs|URGCP_uc011kbj.2_Frame_Shift_Del_p.G813fs	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	856					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGCCGTCGCCCTGTTTCTC	0.637													39	132	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131195806	131195807	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr7:131195806_131195807insG	uc003vqw.4	-	1	744_745	c.486_487insC	c.(484-489)agcagcfs	p.S162fs	PODXL_uc003vqx.4_Frame_Shift_Ins_p.S162fs	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	162	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.K161E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACTGTGGCTGCTTTTCCCCC	0.535													10	1263	---	---	---	---					
ODF1	4956	broad.mit.edu	37	8	103572984	103572992	+	In_Frame_Del	DEL	TGCAGCCCC	TGCAGCCCC	-	rs3018444	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr8:103572984_103572992delTGCAGCCCC	uc003ykt.2	+	1	733_741	c.625_633delTGCAGCCCC	c.(625-633)tgcagccccdel	p.CSP215del		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	215	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.P217P(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACTTCTCCTtgcagcccctgcagcccct	0.584													11	97	---	---	---	---					
LOC338651	338651	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	uc009ycx.1	+	1	1024_1053	c.273_302delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	c.(271-303)aacccccacaggagccacagccccccttggagc>aac	p.PHRSHSPPWS102del	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_In_Frame_Del_p.93_103GSKGGCGSCGG>G					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													47	538	---	---	---	---					
DAGLA	747	broad.mit.edu	37	11	61495728	61495729	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:61495728_61495729insG	uc001nsa.3	+	6	856_857	c.740_741insG	c.(739-741)cagfs	p.Q247fs		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	247					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R246W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCAGCGGCAGCGGGCCAAGC	0.624													7	310	---	---	---	---					
GDPD5	81544	broad.mit.edu	37	11	75146590	75146591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr11:75146590_75146591insG	uc001owo.4	-	17	2316_2317	c.1779_1780insC	c.(1777-1782)ggcagcfs	p.G593fs	GDPD5_uc001owp.4_Frame_Shift_Ins_p.G593fs|GDPD5_uc001own.4_Frame_Shift_Ins_p.G348fs|GDPD5_uc009yuc.3_Frame_Shift_Ins_p.G455fs|GDPD5_uc009yud.3_Frame_Shift_Ins_p.G474fs	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	593					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.G593D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGGTGTGGCTGCCACCCCCTC	0.579													7	325	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11545949	11545951	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:11545949_11545951delTGC	uc010shk.1	-	2	1096_1098	c.1061_1063delGCA	c.(1060-1065)agcaag>aag	p.S354del		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.									p.G353C(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTCGGGACTTGCTGCCTCCTTG	0.601													15	1287	---	---	---	---					
KRT83	3889	broad.mit.edu	37	12	52715037	52715038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:52715037_52715038insT	uc001saf.2	-	0	145_146	c.82_83insA	c.(82-84)agcfs	p.S28fs		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	28	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGCAGCGGCTTGGCCGGGGC	0.678													10	178	---	---	---	---					
LINC00173	100287569	broad.mit.edu	37	12	116972647	116972648	+	RNA	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr12:116972647_116972648insC	uc001tvx.1	+	1		c.918_919insC			LINC00173_uc001tvy.3_Intron					Homo sapiens long intergenic non-protein coding RNA 173 (LINC00173), transcript variant 1, non-coding RNA.																		GCATTCCCGGGCAGCCGCTGCA	0.604													9	118	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106790941	106790942	+	RNA	DEL	TC	TC	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr14:106790941_106790942delTC	uc021ser.1	-	620		c.17450_17451delGA								Parts of antibodies, mostly variable regions.																		GCCGCTGATTTCCCGCCAGCGT	0.584													9	282	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	CTACTG	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr14:106877821_106877826delCTACTG	uc021ser.1	-	409		c.13099_13104delCAGTAG								Parts of antibodies, mostly variable regions.																		GTAGTAACTACTACTGCTGATGGAGC	0.607													10	320	---	---	---	---					
ONECUT1	3175	broad.mit.edu	37	15	53081466	53081467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:53081466_53081467insG	uc002aci.1	-	0	743_744	c.615_616insC	c.(613-618)gccgccfs	p.A205fs		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	205					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GTGGGCATGGCGGCCCCCGGGT	0.713													8	337	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:65918177_65918179delCTG	uc010ujf.2	+	1	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.2_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.2_In_Frame_Del_p.L591del	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													13	276	---	---	---	---					
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr15:73044826_73044827insT	uc002avg.4	-	6	1443_1444	c.1349_1350insA	c.(1348-1350)aagfs	p.K450fs	ADPGK_uc002ave.4_Frame_Shift_Ins_p.K175fs|ADPGK_uc010ukw.2_Frame_Shift_Ins_p.K392fs|ADPGK_uc002avf.4_Frame_Shift_Ins_p.K449fs|ADPGK_uc002avi.4_Frame_Shift_Ins_p.K327fs|ADPGK_uc002avh.4_Frame_Shift_Ins_p.K211fs	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	450	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.490													14	331	---	---	---	---					
RPL2B	0	broad.mit.edu	37	16	436726	436727	+	Frame_Shift_Del	DEL	CA	CA	-	rs35133424		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:436726_436727delCA	uc002cgx.3	+	0	64_65	c.36_37delCA	c.(34-39)accaaafs	p.T12fs	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		aaaaaaaaaccaaaaaaaaaaa	0.391													7	77	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830765	830766	+	In_Frame_Ins	INS	-	-	CAG			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:830765_830766insCAG	uc002cjz.1	-	2	235_236	c.235_236insCTG	c.(235-237)gtc>gCTGtc	p.78_79insA		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													17	551	---	---	---	---					
MSLNL	401827	broad.mit.edu	37	16	830785	830786	+	In_Frame_Ins	INS	-	-	CAG			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:830785_830786insCAG	uc002cjz.1	-	2	215_216	c.215_216insCTG	c.(214-216)cgt>cgCTGt	p.72_73insC		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589													19	530	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89352564	89352565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr16:89352564_89352565insC	uc002fmx.1	-	7	1235_1236	c.774_775insG	c.(772-777)gggaacfs	p.G258fs	ANKRD11_uc002fmy.1_Frame_Shift_Ins_p.G258fs|ANKRD11_uc002fnc.1_Frame_Shift_Ins_p.G258fs|ANKRD11_uc002fnb.1_Frame_Shift_Ins_p.G215fs	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	258						nucleus		p.G257*(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCTGCGGGTTCCCTCCGTACC	0.579													11	567	---	---	---	---					
FKBP10	60681	broad.mit.edu	37	17	39975558	39975559	+	Frame_Shift_Ins	INS	-	-	C	rs137853883		TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:39975558_39975559insC	uc002hxv.2	+	4	1149_1150	c.824_825insC	c.(823-825)ctcfs	p.L275fs	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	275					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACGCTGGAGCTCCCCCCCGGCT	0.634													11	539	---	---	---	---					
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40272817_40272818insC	uc002hyx.2	-	1	429_430	c.369_370insG	c.(367-372)tggaaafs	p.W123fs	HSPB9_uc002hyy.2_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	123					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	p.K124E(2)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584													130	275	---	---	---	---					
GHDC	84514	broad.mit.edu	37	17	40344321	40344322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:40344321_40344322insC	uc002hzd.3	-	3	1310_1311	c.826_827insG	c.(826-828)gccfs	p.A276fs	GHDC_uc002hzg.2_Frame_Shift_Ins_p.A276fs|GHDC_uc010wgg.2_Frame_Shift_Ins_p.A237fs|GHDC_uc002hze.4_Frame_Shift_Ins_p.A276fs|GHDC_uc002hzf.4_Frame_Shift_Ins_p.A276fs|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	276						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GGCCCCGAGGGCAGCCACAGCC	0.663													14	575	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435501	56435502	+	Frame_Shift_Ins	INS	-	-	G	rs144487242	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr17:56435501_56435502insG	uc002iwf.3	-	7	3591_3592	c.1635_1636insC	c.(1633-1638)tccagcfs	p.S545fs	RNF43_uc010wnv.2_Frame_Shift_Ins_p.S504fs|RNF43_uc002iwh.4_Frame_Shift_Ins_p.S545fs|RNF43_uc002iwg.4_Frame_Shift_Ins_p.S545fs|RNF43_uc010dcw.3_Frame_Shift_Ins_p.S418fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	545						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGACATGGCTGGAAACCTGGG	0.624													14	503	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10250846	10250847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:10250846_10250847insC	uc002mng.3	-	31	3813_3814	c.3633_3634insG	c.(3631-3636)ctgcccfs	p.L1211fs	DNMT1_uc002mnf.3_Frame_Shift_Ins_p.L135fs|DNMT1_uc010xlc.2_Frame_Shift_Ins_p.L1227fs|DNMT1_uc002mnh.3_Frame_Shift_Ins_p.L1106fs|DNMT1_uc010xld.2_Frame_Shift_Ins_p.L1211fs	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1211	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCTTCTGGGGCAGCCGCTGGC	0.624													23	227	---	---	---	---					
RELB	5971	broad.mit.edu	37	19	45515450	45515452	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:45515450_45515452delCCG	uc021uvq.1	+	3	551_553	c.420_422delCCG	c.(418-423)ttccgc>ttc	p.R141del	RELB_uc021uvp.1_In_Frame_Del_p.R138del	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	141	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCATGCGCTTCCGCTACGAGTGC	0.754													33	41	---	---	---	---					
MED25	81857	broad.mit.edu	37	19	50333382	50333383	+	Frame_Shift_Ins	INS	-	-	C	rs147677997	by1000genomes	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr19:50333382_50333383insC	uc002ppw.2	+	6	789_790	c.726_727insC	c.(724-729)aagcagfs	p.K242fs	MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Frame_Shift_Ins_p.K23fs	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	242	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCCAGTCAAAGCAGCCAGTCCC	0.653													7	253	---	---	---	---					
AHCY	191	broad.mit.edu	37	20	32868894	32868914	+	In_Frame_Del	DEL	CTGGGCTTGCTTCTCAGTTAG	CTGGGCTTGCTTCTCAGTTAG	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr20:32868894_32868914delCTGGGCTTGCTTCTCAGTTAG	uc002xai.3	-	9	1364_1384	c.1225_1245delCTAACTGAGAAGCAAGCCCAG	c.(1225-1245)ctaactgagaagcaagcccagdel	p.LTEKQAQ409del	AHCY_uc002xaj.3_In_Frame_Del_p.LTEKQAQ381del	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	409					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGCCCAGGTACTGGGCTTGCTTCTCAGTTAGCTTGGTCAAC	0.566													26	78	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885754	29885777	+	In_Frame_Del	DEL	AAGTCCCCAGTGAAGGAAGAAGCA	AAGTCCCCAGTGAAGGAAGAAGCA	-	rs139600064	byFrequency	TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chr22:29885754_29885777delAAGTCCCCAGTGAAGGAAGAAGCA	uc003afo.3	+	3	2196_2219	c.2125_2148delAAGTCCCCAGTGAAGGAAGAAGCA	c.(2125-2148)aagtccccagtgaaggaagaagcadel	p.KSPVKEEA709del	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	715	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament		p.E715K(2)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTG	0.562													8	311	---	---	---	---					
APEX2	27301	broad.mit.edu	37	X	55033524	55033525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:55033524_55033525insA	uc004dtz.3	+	5	1289_1290	c.1213_1214insA	c.(1213-1215)caafs	p.Q405fs	APEX2_uc011mom.2_Frame_Shift_Ins_p.Q234fs	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	405					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TAGCTGTCCCCAAGCCTCTCCT	0.584								Other BER factors					8	187	---	---	---	---					
UTP14A	10813	broad.mit.edu	37	X	129045830	129045831	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:129045830_129045831insG	uc004euz.3	+	5	560_561	c.470_471insG	c.(469-471)ctgfs	p.L157fs	UTP14A_uc011mup.2_Intron|UTP14A_uc011muq.2_Frame_Shift_Ins_p.L103fs	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	157					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GCAGAGCAGCTGGTTTTTCCCC	0.500													10	325	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129146953	129146954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:129146953_129146954insG	uc022cdu.1	+	2	249_250	c.205_206insG	c.(205-207)agcfs	p.S69fs	BCORL1_uc010nrd.1_5'UTR	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	69					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.G68A(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGAAGTGGCAGCAATGCCCGG	0.574													9	805	---	---	---	---					
PLXNA3	55558	broad.mit.edu	37	X	153688565	153688565	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4117-01A-01D-1252-08	TCGA-B9-4117-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	022fd0e9-aeef-4d27-a58a-66acca664e1d	1dfccb8c-84c0-4831-983e-08d93bf00ad4	g.chrX:153688565delG	uc004flm.3	+	1	215	c.42delG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTTGCCGTGGGGGGGGCCC	0.682													7	452	---	---	---	---					
