Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FCRLA	84824	broad.mit.edu	37	1	161681737	161681737	+	Silent	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:161681737G>A	uc001gbe.3	+	4	824	c.582G>A	c.(580-582)gcG>gcA	p.A194A	FCRLA_uc001gbg.3_Silent_p.A48A|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Silent_p.A188A|FCRLA_uc001gbf.3_Silent_p.A99A|FCRLA_uc009wuo.3_Silent_p.A54A	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGTTTCCAGCGCCAATTCTCA	0.527000														293			6		0	0	0.021553	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189590	50189590	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr15:50189590A>C	uc001zxu.3	-	22	2738	c.2596T>G	c.(2596-2598)Tat>Gat	p.Y866D	ATP8B4_uc010ber.3_Missense_Mutation_p.Y739D|ATP8B4_uc010ufd.2_Missense_Mutation_p.Y676D|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.Y164D	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	866					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTCGGAAATAAGACCACCTT	0.413000														106			92		0	0	0.014410	0	0
RFX1	5989	broad.mit.edu	37	19	14083696	14083696	+	Silent	SNP	G	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:14083696G>C	uc002mxv.3	-	8	1445	c.1173C>G	c.(1171-1173)ggC>ggG	p.G391G	RFX1_uc010dzi.2_Silent_p.G391G	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	391	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			cgcctcccccgccgccgccgc	0.726000														9			2		0	0	0.004672	0	0
FEM1A	55527	broad.mit.edu	37	19	4792851	4792851	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:4792851C>T	uc002mbf.3	+	0	1124	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	329					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATGGAGCTGCGTCACCAGGG	0.607000														33			22		0	0	0.010504	0	0
LRFN2	57497	broad.mit.edu	37	6	40400680	40400680	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:40400680C>T	uc003oph.1	-	1	638	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	58						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGGCGCAGCTCCAC	0.602000														41			33		0	0	0.027894	0	0
OR4D10	390197	broad.mit.edu	37	11	59245678	59245678	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:59245678C>T	uc001nnz.1	+	0	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATGTCTATGCCCGGCCCTTC	0.562000														294			14		0	0	0.010504	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107531159	107531159	+	Missense_Mutation	SNP	G	A	A	rs141198887	byFrequency	TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:107531159G>A	uc004bci.3	+	2	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_Non-coding_Transcript	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3B (C. elegans) (NIPSNAP3B), mRNA.	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343000														31			7		0	0	0.004482	0	0
FANCC	2176	broad.mit.edu	37	9	98009714	98009714	+	Splice_Site	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:98009714C>T	uc022bkl.1	-	3	454	c.250_splice	c.e3+1	p.D84_splice	FANCC_uc004avh.3_Splice_Site_p.D84_splice|FANCC_uc004avi.4_Splice_Site_p.D84_splice|FANCC_uc010mrm.1_Splice_Site|FANCC_uc011lul.1_Splice_Site	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	84					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGATTCTTACCATATGCTAAA	0.323000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					67			20		0	0	0.016522	0	0
C17orf101	79701	broad.mit.edu	37	17	80367258	80367258	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:80367258C>T	uc002ket.2	-	3	561	c.409G>A	c.(409-411)Gga>Aga	p.G137R	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Missense_Mutation_p.G137R	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	137						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						CCGTCAGATCCTCCCAGGGAG	0.468000														54			3		0	0	0.004672	0	0
HOXB8	3218	broad.mit.edu	37	17	46691864	46691864	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:46691864G>A	uc002inw.3	-	0	438	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CTGCTGGTAGGGAGCCGTGGA	0.672000														28			23		0	0	0.014323	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027273	26027273	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:26027273C>T	uc003nfr.3	-	0	208	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.A70S(2)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGGTCACGGCGTCCCGGATC	0.577000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			4		0	0	0.009096	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118268	118268	+	RNA	SNP	G	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chrGL000205.1:118268G>C	uc002kgk.4	+	0		c.1646G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAACCAGCAAGAAATTCATCC	0.512000														20			3		0	0	0.014758	0	0
SOWAHB	345079	broad.mit.edu	37	4	77818021	77818021	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:77818021A>C	uc003hki.3	-	0	982	c.982T>G	c.(982-984)Tgg>Ggg	p.W328G		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	328																	AGCACCGACCAGGCGCGGATA	0.652000														30			16		0	0	0.004990	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142258943	142258943	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:142258943A>G	uc011dbj.2	+	3	352	c.317A>G	c.(316-318)gAg>gGg	p.E106G	ARHGAP26_uc003lmt.3_Missense_Mutation_p.E106G|ARHGAP26_uc003lmw.3_Missense_Mutation_p.E106G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	106					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGATTGAGAATGCCAGC	0.458000														125			3		0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50731664	50731664	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr18:50731664C>T	uc002lfe.2	+	9	2268	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	DCC_uc010xdr.1_Missense_Mutation_p.P399L|DCC_uc010dpf.2_Missense_Mutation_p.P206L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	551	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGAACCCCCTGCCTATGCA	0.458000														148			59		0	0	0.014410	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118572	118572	+	RNA	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	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														28			5		0	0	0.014758	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														33			5		0	0	0.021553	0	0
VEGFB	7423	broad.mit.edu	37	11	64005040	64005040	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:64005040A>C	uc001nyw.3	+	5	809	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_uc001nyx.3_Missense_Mutation_p.D153A	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706000														9			4		0	0	0.010729	0	0
MEP1A	4224	broad.mit.edu	37	6	46801256	46801256	+	Silent	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:46801256G>A	uc011dwh.1	+	9	1682	c.1674G>A	c.(1672-1674)tcG>tcA	p.S558S	MEP1A_uc010jzh.1_Silent_p.S530S|MEP1A_uc011dwg.1_Silent_p.S252S|MEP1A_uc011dwi.1_Silent_p.S430S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	530	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S530S(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACTACCTCGAAGTCGCACA	0.517000														155			16		0	0	0.028581	0	0
SETD2	29072	broad.mit.edu	37	3	47155394	47155394	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:47155394C>G	uc003cqv.3	-	4	4740	c.4654G>C	c.(4654-4656)Ggc>Cgc	p.G1552R	SETD2_uc003cqs.3_Missense_Mutation_p.G1563R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1563	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTCAAGCCCCAGCCTTTC	0.428000			"""N, F, S, Mis"""		clear cell renal carcinoma									48			23		0	0	0.021523	0	0
ELFN2	114794	broad.mit.edu	37	22	37770047	37770047	+	Missense_Mutation	SNP	C	T	T	rs143903281		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr22:37770047C>T	uc003asq.4	-	2	2314	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	ELFN2_uc021wph.1_Missense_Mutation_p.G510S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	510						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGTCCCCGCCGGCGCCTGTG	0.662000														33			30		0	0	0.015359	0	0
KXD1	79036	broad.mit.edu	37	19	18679431	18679431	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:18679431C>T	uc021uqq.1	+	5	826	c.521C>T	c.(520-522)aCg>aTg	p.T174M	KXD1_uc021uqr.1_Missense_Mutation_p.T174M|KXD1_uc002njo.3_Missense_Mutation_p.T174M|KXD1_uc002njq.3_Missense_Mutation_p.T174M	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	174							protein binding										GAGGAGATGACGGGCGAATAG	0.652000														29			15		0	0	0.024245	0	0
RGS6	9628	broad.mit.edu	37	14	72961928	72961928	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:72961928C>A	uc001xna.4	+	12	1446	c.923C>A	c.(922-924)cCt>cAt	p.P308H	RGS6_uc021rvv.1_Missense_Mutation_p.P273H|RGS6_uc010ttn.2_Missense_Mutation_p.P308H|RGS6_uc021rvw.1_Missense_Mutation_p.P308H|RGS6_uc021rvx.1_Missense_Mutation_p.P308H|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.P308H|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.P308H|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc010ttp.1_Missense_Mutation_p.P239H|RGS6_uc021rwc.1_Missense_Mutation_p.P169H	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCATCCAACCCTTGGATCAGC	0.443000														143			108		1.56226e-53	1.83796e-53	0.014410	1	0
ARSK	153642	broad.mit.edu	37	5	94918892	94918892	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:94918892G>T	uc003kld.3	+	3	847	c.689G>T	c.(688-690)tGg>tTg	p.W230L	ARSK_uc010jbg.3_Missense_Mutation_p.W71L|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	230						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTCTTTATTGGCTTGAAAAA	0.313000														29			13		2.32078e-09	2.67783e-09	0.024245	1	0
ODZ2	57451	broad.mit.edu	37	5	167674704	167674704	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:167674704A>G	uc010jjd.3	+	26	6733	c.6733A>G	c.(6733-6735)Ata>Gta	p.I2245V	ODZ2_uc003lzr.4_Missense_Mutation_p.I2015V|ODZ2_uc003lzt.4_Missense_Mutation_p.I1618V|ODZ2_uc010jje.3_Missense_Mutation_p.I1509V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCGGGATCGGATAACCAGACT	0.527000														45			27		0	0	0.007291	0	0
PDGFC	56034	broad.mit.edu	37	4	157689077	157689077	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:157689077C>T	uc003iph.2	-	4	1260	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	PDGFC_uc003ipi.2_Missense_Mutation_p.V94M|PDGFC_uc011cis.2_Missense_Mutation_p.V94M|PDGFC_uc011cir.2_Missense_Mutation_p.V101M	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	257					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTATGGACACTGAGAAGTTA	0.428000														159			15		0	0	0.006122	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47333730	47333730	+	RNA	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:47333730G>A	uc001cqo.1	-	7		c.997C>T			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AGCAGTAGTTGTGGTGTCATG	0.438000														14			17		0	0	0.008871	0	0
IGJ	3512	broad.mit.edu	37	4	71527853	71527853	+	Silent	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:71527853G>A	uc010ihz.3	-	2	333	c.192C>T	c.(190-192)tcC>tcT	p.S64S	IGJ_uc003hfn.4_Silent_p.S48S	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	48					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGGATCTTCGGAAGAACGGA	0.393000														70			44		0	0	0.014410	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									54			28		0	0	0.019004	0	0
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423000														53			29		0	0	0.010818	0	0
TTN	7273	broad.mit.edu	37	2	179435704	179435704	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:179435704C>T	uc021vsy.1	-	274	67676	c.67451G>A	c.(67450-67452)cGt>cAt	p.R22484H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16179H|TTN_uc021vta.1_Missense_Mutation_p.R16112H|TTN_uc021vtb.1_Missense_Mutation_p.R15987H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23411	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAACGGCCCTCAGG	0.408000														123			83		0	0	0.014410	0	0
C1orf173	127254	broad.mit.edu	37	1	75038852	75038852	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:75038852C>A	uc001dgg.3	-	13	2761	c.2542G>T	c.(2542-2544)Gtc>Ttc	p.V848F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	848	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCCTTCTGACCCCTTCTGCT	0.532000														27			23		1.50538e-07	1.7042e-07	0.006320	1	0
TPP2	7174	broad.mit.edu	37	13	103290661	103290661	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr13:103290661G>A	uc001vpi.4	+	14	2012	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	637					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTATAGCAGCAAAGTAAGT	0.393000														107			4		0	0	0.009096	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022522	99022522	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:99022522C>A	uc011kiw.2	-	6	1840	c.1780G>T	c.(1780-1782)Gtc>Ttc	p.V594F	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.V545F	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	594																	TTTGCCAGGACCGGCAACAGC	0.597000														32			27		1.74197e-06	1.93553e-06	0.006320	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														17			4		0	0	0.009096	0	0
CACNA1E	777	broad.mit.edu	37	1	181549908	181549908	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:181549908A>G	uc009wxt.3	+	5	1142	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	CACNA1E_uc001gow.3_Missense_Mutation_p.Y316C|CACNA1E_uc009wxs.3_Missense_Mutation_p.Y316C|CACNA1E_uc009wxr.3_Missense_Mutation_p.Y223C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	316					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGTGCTGTACAATGTGAGT	0.552000														36			3		0	0	0.004672	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:178928079G>A	uc003fjk.3	+	7	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				52			41		0	0	0.009718	0	0
TKT	7086	broad.mit.edu	37	3	53276233	53276233	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:53276233C>T	uc003dgo.3	-	1	305	c.133G>A	c.(133-135)Gca>Aca	p.A45T	TKT_uc011beo.1_5'UTR|TKT_uc003dgq.3_Missense_Mutation_p.A45T|TKT_uc011beq.2_Missense_Mutation_p.A45T|TKT_uc011ber.2_5'UTR	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	45					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.A45T(2)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ATGATCTCTGCGGCGCTGCAG	0.582000														79			3		0	0	0.009096	0	0
ZNF688	146542	broad.mit.edu	37	16	30581515	30581515	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr16:30581515A>T	uc002dyt.2	-	2	1331	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	ZNF688_uc002dys.2_Missense_Mutation_p.C171S|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGTCCGTGCACACGTGGCGC	0.687000														13			10		0	0	0.010729	0	0
PTPRO	5800	broad.mit.edu	37	12	15654567	15654567	+	Silent	SNP	T	C	C			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:15654567T>C	uc001rcv.2	+	4	1145	c.675T>C	c.(673-675)ccT>ccC	p.P225P	PTPRO_uc001rcw.2_Silent_p.P225P|PTPRO_uc001rcu.2_Silent_p.P225P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	225						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTATCCACCTCAAAATATTT	0.348000														38			17		0	0	0.008871	0	0
SCUBE3	222663	broad.mit.edu	37	6	35208200	35208200	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:35208200C>G	uc003okf.1	+	8	1008	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	SCUBE3_uc003okg.1_Missense_Mutation_p.N333K|SCUBE3_uc003okh.1_Missense_Mutation_p.N221K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	334	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TATGTGTCAACACACCAGGAA	0.507000														75			8		0	0	0.003080	0	0
VKORC1L1	154807	broad.mit.edu	37	7	65419069	65419069	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:65419069G>A	uc011kds.2	+	1	305	c.203G>A	c.(202-204)aGc>aAc	p.S68N	VKORC1L1_uc003tul.3_Missense_Mutation_p.A105T|VKORC1L1_uc003tum.1_5'Flank			Q8N0U8	VKORL_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA.	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGGCATGACAGCAAGCGCTGT	0.537000														76			3		0	0	0.009096	0	0
FUBP1	8880	broad.mit.edu	37	1	78430888	78430888	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:78430888delA	uc001dii.3	-	7	590	c.501delT	c.(499-501)attfs	p.I167fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.I188fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	167					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTTTTCAACAATCTGGTCCA	0.393			"""F, N"""		oligodendroglioma								---	7	---	---	53	---					
KIFC2	90990	broad.mit.edu	37	8	145692175	145692176	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr8:145692175_145692176delAG	uc003zcz.3	+	1	197_198	c.132_133delAG	c.(130-135)ccagacfs	p.P44fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	44					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCGGCGCCCAGACCTGCCCGC	0.777													---	4	---	---	2	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	148	---	---	7	---					
MRC2	9902	broad.mit.edu	37	17	60757562	60757564	+	In_Frame_Del	DEL	ACG	-	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:60757562_60757564delACG	uc002jad.3	+	14	2732_2734	c.2330_2332delACG	c.(2329-2334)cacgac>cac	p.D781del	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	781	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCCGGCACGACGACGACGA	0.645													---	104	---	---	7	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:9361741delT	uc002mlb.1	+	0	22	c.22delT	c.(22-24)tttfs	p.F8fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													---	9	---	---	4	---					
