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
SUSD2	56241	broad.mit.edu	37	22	24581140	24581140	+	Silent	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:24581140C>A	uc002zzn.1	+	5	905	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	287	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCTGTGGCCTGGGCACGAA	0.662000														85			28		1.75199e-13	1.94665e-13	0.353513	1	0
WDR66	144406	broad.mit.edu	37	12	122413567	122413567	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr12:122413567T>C	uc009zxk.3	+	18	3141	c.2982T>C	c.(2980-2982)atT>atC	p.I994I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	994							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGAGCAATTGGCTTTTACC	0.438000														122			46		0	0	0.323286	0	0
ARF5	381	broad.mit.edu	37	7	127229193	127229193	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:127229193A>G	uc003vmb.2	+	1	271	c.124A>G	c.(124-126)Att>Gtt	p.I42V	ARF5_uc010llb.2_Missense_Mutation_p.I42V|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	42					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GTTGGGGGAGATTGTCACCAC	0.632000											OREG0018287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		116			83		0	0	0.323286	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657190	100657190	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:100657190C>T	uc002bvv.1	-	12	1829	c.1750G>A	c.(1750-1752)Ggt>Agt	p.G584S	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G341S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	584	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACACTGGCACCCGGGCAGTGT	0.632000														56			24		0	0	0.279207	0	0
BMPR1B	658	broad.mit.edu	37	4	96025660	96025660	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:96025660G>A	uc003htm.4	+	3	359	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	BMPR1B_uc010ilb.3_Missense_Mutation_p.V29I|BMPR1B_uc003htn.4_Missense_Mutation_p.V29I	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	29					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCGTCCAAAGGTCTTGCGTTG	0.423000														15			4		0	0	0.217242	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955994	18955994	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:18955994A>T	uc001mpg.3	-	0	556	c.338T>A	c.(337-339)cTg>cAg	p.L113Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	113					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACGGCACTCAGAAAGCTCAG	0.542000														255			10		0	0	0.335167	0	0
GRHL1	29841	broad.mit.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	A	A	rs140278187		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:10101557G>A	uc002raa.3	+	3	832	c.661G>A	c.(661-663)Gtt>Att	p.V221I	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.A57A|GRHL1_uc010yjb.2_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	221					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463000														96			45		0	0	0.290176	0	0
LRIG2	9860	broad.mit.edu	37	1	113616165	113616165	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:113616165C>A	uc001edf.1	+	0	335	c.137C>A	c.(136-138)cCc>cAc	p.P46H	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	46	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCCCCGCGCCCTGCTCCTGC	0.652000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		305			94		7.68471e-68	9.10031e-68	0.323286	1	0
MRPL13	28998	broad.mit.edu	37	8	121455496	121455496	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:121455496G>A	uc003ypa.3	-	1	393	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.3_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	27					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.Q26R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGCCAGGTGGCTGCATTTT	0.373000														25			8		0	0	0.335167	0	0
AP4M1	9179	broad.mit.edu	37	7	99700326	99700326	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:99700326T>C	uc003utb.4	+	2	384	c.176T>C	c.(175-177)aTc>aCc	p.I59T	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.I59T|AP4M1_uc010lgl.1_Missense_Mutation_p.I59T|AP4M1_uc003utd.3_Missense_Mutation_p.I59T|AP4M1_uc011kjh.2_Missense_Mutation_p.I11T|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	59					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCAGACACAGC	0.527000														246			59		0	0	0.323286	0	0
TNFSF8	944	broad.mit.edu	37	9	117666220	117666220	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr9:117666220A>C	uc004bji.2	-	3	988	c.696T>G	c.(694-696)aaT>aaG	p.N232K	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	232					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCAGTCTGAATTACTGTATA	0.408000														31			20		0	0	0.249174	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665021	95665021	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:95665021G>A	uc003uoc.4	+	12	1649	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	DYNC1I1_uc003uod.4_Missense_Mutation_p.G441S|DYNC1I1_uc003uob.3_Missense_Mutation_p.G421S|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G438S|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G447S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	458					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTCGTGGTTGGCAGTGAGGA	0.463000														69			3		0	0	0.115264	0	0
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:114356239T>C	uc002tkh.3	+	5	775	c.717T>C	c.(715-717)cgT>cgC	p.R239R	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCTTTGCCCGTGTGTCAGACT	0.642000														17			3		0	0	0.150653	0	0
DOCK5	80005	broad.mit.edu	37	8	25190182	25190182	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:25190182T>C	uc003xeg.3	+	19	2202	c.2065T>C	c.(2065-2067)Tat>Cat	p.Y689H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.Y403H|DOCK5_uc003xei.3_Missense_Mutation_p.Y259H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	689						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAAACCTATGACTTCCT	0.328000														8			2		0	0	0.115264	0	0
OR4C11	219429	broad.mit.edu	37	11	55371692	55371692	+	Missense_Mutation	SNP	A	T	T	rs151111921	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:55371692A>T	uc010rii.2	-	0	183	c.158T>A	c.(157-159)cTa>cAa	p.L53Q		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGGGCTTCCTAGTGTCCGGCT	0.398000														14			7		0	0	0.278610	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280575	47280575	+	Silent	SNP	G	T	T	rs11541232		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:47280575G>T	uc002pfs.3	-	5	1766	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	SLC1A5_uc010xyh.2_Silent_p.G180G|SLC1A5_uc002pfq.3_Silent_p.G206G|SLC1A5_uc002pfr.3_Silent_p.G154G	NM_005628	NP_001138616	Q15758	AAAT_HUMAN	Homo sapiens solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5), transcript variant 1, mRNA.	382					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGACGGTGGCGCCGATGGGCA	0.587000														111			9		1.76689e-08	1.8931e-08	0.335167	1	0
TMEM37	140738	broad.mit.edu	37	2	120194829	120194829	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:120194829T>C	uc002tly.3	+	1	420	c.386T>C	c.(385-387)aTc>aCc	p.I129T		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	129						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGGGTTCCATCCTCCTCCTG	0.567000														516			204		0	0	0.323286	0	0
TTLL1	25809	broad.mit.edu	37	22	43442517	43442517	+	Silent	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:43442517C>G	uc003bdi.3	-	9	1282	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	TTLL1_uc010gzh.3_Silent_p.L318L|TTLL1_uc021wqt.1_Silent_p.L309L|TTLL1_uc003bdj.3_Silent_p.L233L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	347	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTCATTAATCAGGTTGTACT	0.512000														420			13		0	0	0.105934	0	0
ABRA	137735	broad.mit.edu	37	8	107782408	107782408	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:107782408C>A	uc003ymm.4	-	0	65	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCCTTTTCGCCCGGAGCCAT	0.597000														131			50		2.23044e-30	2.57358e-30	0.323286	1	0
IFT140	9742	broad.mit.edu	37	16	1608090	1608090	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:1608090G>T	uc002cmb.3	-	18	2607	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	IFT140_uc002clz.3_Missense_Mutation_p.H400N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	749										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAGGGATGTGGTGGCACCCA	0.552000														469			260		1.22476e-156	1.46971e-156	0.323286	1	0
LRRC33	375387	broad.mit.edu	37	3	196387840	196387840	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:196387840C>T	uc003fwv.3	+	2	1430	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	442						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACTTTGTCCCCTGCCAGCTG	0.592000														388			323		0	0	0.323286	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529414	80529414	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:80529414T>G	uc021vjt.1	-	0	1531	c.1531A>C	c.(1531-1533)Acc>Ccc	p.T511P	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.T511P	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	511						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGTGGCAGGTACACGAGCCA	0.587000										HNSCC(69;0.2)				39			12		0	0	0.312237	0	0
PFAS	5198	broad.mit.edu	37	17	8170542	8170542	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:8170542C>T	uc002gkr.3	+	23	3305	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	PFAS_uc010vuv.2_Missense_Mutation_p.P631L|PFAS_uc002gks.3_Missense_Mutation_p.P134L	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1055					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCCGTGCCCCGTGAGCCT	0.677000														47			21		0	0	0.264190	0	0
GOLT1A	127845	broad.mit.edu	37	1	204183026	204183026	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:204183026G>T	uc001has.1	-	0	195	c.9C>A	c.(7-9)tcC>tcA	p.S3S	GOLT1A_uc001hat.1_Silent_p.S3S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	3					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			ATTCGGTGATGGAGATCATGC	0.642000														42			16		4.63292e-17	5.27801e-17	0.204396	1	0
SEMA5A	9037	broad.mit.edu	37	5	9226981	9226981	+	Splice_Site	SNP	C	T	T	rs141767878		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:9226981C>T	uc003jek.2	-	7	1144	c.432_splice	c.e7+1	p.S144_splice		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	144	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGCCATACCGAGCGGTTGG	0.438000														130			6		0	0	0.278610	0	0
DAZAP1	26528	broad.mit.edu	37	19	1428875	1428875	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:1428875A>G	uc002lsn.3	+	7	770	c.581A>G	c.(580-582)aAg>aGg	p.K194R	DAZAP1_uc002lsm.3_Missense_Mutation_p.K194R	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	194					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACAGCAAGAGCCAAGCG	0.657000														87			35		0	0	0.268233	0	0
EEF2	1938	broad.mit.edu	37	19	3979985	3979985	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:3979985C>T	uc002lze.3	-	9	1509	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	476						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTGGTCCACGCCCACG	0.592000														105			31		0	0	0.144211	0	0
MUC4	4585	broad.mit.edu	37	3	195515463	195515463	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:195515463G>A	uc021xjp.1	-	1	3144	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1001	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T996T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCATCGGTGACATGAA	0.582000														31			3		0	0	0.115264	0	0
VPS4B	9525	broad.mit.edu	37	18	61058289	61058289	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr18:61058289T>C	uc002lix.3	-	10	1514	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	418					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTGTTAGATAGTGACCGCA	0.348000														153			21		0	0	0.234183	0	0
ATP1B1	481	broad.mit.edu	37	1	169096584	169096584	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169096584T>C	uc001gfr.1	+	3	626	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	169					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AACTTATGGCTACAAAGAGGG	0.388000														22			8		0	0	0.069234	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978199	69978199	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:69978199A>G	uc003heg.4	+	5	1381	c.1335A>G	c.(1333-1335)ttA>ttG	p.L445L	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	445					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATGAAATTATCAAGAATTC	0.393000														26			12		0	0	0.080935	0	0
CYHR1	50626	broad.mit.edu	37	8	145690192	145690192	+	Splice_Site	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:145690192C>G	uc003zcv.2	-	1	288	c.93_splice	c.e1+1	p.E31_splice	CYHR1_uc003zcw.2_Splice_Site_p.E31_splice|CYHR1_uc003zcx.2_Splice_Site_p.E31_splice|CYHR1_uc003zcy.2_Splice_Site_p.E31_splice|KIFC2_uc003zcz.3_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	Homo sapiens cysteine/histidine-rich 1 (CYHR1), transcript variant 1, mRNA.	31						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	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)			GTGTACTCACCTCGGCTGTGC	0.627000														60			17		0	0	0.279207	0	0
JAG2	3714	broad.mit.edu	37	14	105622266	105622266	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:105622266T>C	uc001yqg.3	-	3	940	c.536A>G	c.(535-537)aAg>aGg	p.K179R	JAG2_uc001yqh.3_Missense_Mutation_p.K179R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	179					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCAGGCTCTTCCAGCGGTC	0.632000														38			19		0	0	0.234183	0	0
DST	667	broad.mit.edu	37	6	56499603	56499603	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:56499603A>C	uc003pcy.4	-	10	1832	c.1724T>G	c.(1723-1725)aTt>aGt	p.I575S	DST_uc021zay.1_Missense_Mutation_p.I941S|DST_uc021zax.1_Missense_Mutation_p.I575S|DST_uc003pdc.4_Missense_Mutation_p.I575S|DST_uc003pdd.4_Missense_Mutation_p.I575S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	901					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGTACCTCAATTTGTCTGTA	0.358000														112			47		0	0	0.312237	0	0
BCKDHA	593	broad.mit.edu	37	19	41928188	41928188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:41928188C>G	uc002oqq.3	+	5	805	c.766C>G	c.(766-768)Ctt>Gtt	p.L256V	BCKDHA_uc002oqm.4_Missense_Mutation_p.L290V|BCKDHA_uc002oqp.2_Missense_Mutation_p.L148V|BCKDHA_uc002oqr.3_Missense_Mutation_p.L256V|BCKDHA_uc010xvz.2_Missense_Mutation_p.L234V	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGCTGCCACACTTGAGTGCCC	0.612000														147			55		0	0	0.323286	0	0
VRK3	51231	broad.mit.edu	37	19	50500776	50500776	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:50500776C>T	uc002prg.2	-	6	762	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	VRK3_uc002prh.1_Missense_Mutation_p.A222T|VRK3_uc002pri.1_Missense_Mutation_p.A172T|VRK3_uc010ens.2_Missense_Mutation_p.A222T|VRK3_uc010ybl.1_Missense_Mutation_p.A172T|VRK3_uc010ybm.1_Intron|VRK3_uc002prk.2_Missense_Mutation_p.A222T|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Missense_Mutation_p.A222T|VRK3_uc010ybn.1_Intron	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	222	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGAGGCTTGGCGGCCCGCTGG	0.592000														57			4		0	0	0.150653	0	0
ITGB5	3693	broad.mit.edu	37	3	124515613	124515613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:124515613C>A	uc003eho.3	-	9	1612	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	439					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.E439A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AACACATGCTCCGTGTGTCTG	0.612000														100			24		2.79863e-10	3.03466e-10	0.309145	1	0
LAMB1	3912	broad.mit.edu	37	7	107572755	107572755	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:107572755T>C	uc003vev.2	-	25	4489	c.4328A>G	c.(4327-4329)gAc>gGc	p.D1443G	LAMB1_uc003vew.2_Missense_Mutation_p.D1419G	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1419	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTTCGTCAGTTCTGCA	0.572000														186			4		0	0	0.184627	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86921691	86921691	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:86921691A>G	uc003hpk.3	+	9	2512	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	ARHGAP24_uc003hpl.3_Missense_Mutation_p.D593G|ARHGAP24_uc010ikf.3_Missense_Mutation_p.D603G|ARHGAP24_uc003hpm.3_Missense_Mutation_p.D595G	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	688					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGAACTGGATCAGGAGAGG	0.448000														20			12		0	0	0.080935	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073346	3073346	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:3073346G>C	uc002csx.1	-	3	302	c.169C>G	c.(169-171)Cag>Gag	p.Q57E	HCFC1R1_uc002csy.1_Missense_Mutation_p.Q57E|HCFC1R1_uc002csz.1_Missense_Mutation_p.Q38E|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	57						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GACAGAAACTGCTTGCGCAGA	0.592000														402			8		0	0	0.307466	0	0
ATP1A1	476	broad.mit.edu	37	1	116941400	116941400	+	Missense_Mutation	SNP	G	C	C	rs11540954		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:116941400G>C	uc001ege.3	+	15	2621	c.2282G>C	c.(2281-2283)gGa>gCa	p.G761A	ATP1A1_uc010owv.1_Missense_Mutation_p.G730A|ATP1A1_uc010oww.2_Missense_Mutation_p.G761A|ATP1A1_uc010owx.2_Missense_Mutation_p.G730A|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	761					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATTGTGACTGGAGTAGAGGAA	0.438000														62			31		0	0	0.153744	0	0
ZNF627	199692	broad.mit.edu	37	19	11728624	11728624	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:11728624G>T	uc002msk.2	+	3	1514	c.1306G>T	c.(1306-1308)Gta>Tta	p.V436L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R435Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTACTTTCGAGTACATGAAAA	0.423000														46			17		3.32936e-07	3.5252e-07	0.175082	1	0
KCNH7	90134	broad.mit.edu	37	2	163241347	163241347	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:163241347A>G	uc002uch.2	-	12	3042	c.2813T>C	c.(2812-2814)aTc>aCc	p.I938T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGGAGATGAAAGATGA	0.408000														25			15		0	0	0.175082	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000														18			5		0	0	0.248553	0	0
KRBA1	84626	broad.mit.edu	37	7	149422542	149422542	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:149422542G>C	uc003wfz.3	+	9	1662	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.Q89H	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	421										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTCTCAGAAGCCTGAAC	0.597000														82			3		0	0	0.115264	0	0
CLOCK	9575	broad.mit.edu	37	4	56301654	56301654	+	Silent	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:56301654A>T	uc003haz.1	-	23	3395	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	CLOCK_uc003hba.1_Silent_p.S823S|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	823	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCTGTTGCTGAGACTGATGTT	0.527000														37			10		0	0	0.093190	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117396642	117396642	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:117396642G>A	uc003vjf.3	-	11	3407	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1105										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGGAGAGGGATCATGGAGG	0.498000														161			9		0	0	0.307466	0	0
PTPN18	26469	broad.mit.edu	37	2	131130764	131130764	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:131130764C>T	uc002trc.3	+	14	1451	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	PTPN18_uc002trb.3_Silent_p.P343P|PTPN18_uc002tre.3_Silent_p.P101P	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	450						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CGAAGGGTCCCCGGGACCCGC	0.617000														53			4		0	0	0.150653	0	0
RBBP6	5930	broad.mit.edu	37	16	24551952	24551952	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:24551952C>G	uc002dmh.3	+	0	1045	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Missense_Mutation_p.S2C|RBBP6_uc002dmi.3_Missense_Mutation_p.S2C|RBBP6_uc010bxr.3_Missense_Mutation_p.S2C|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	2					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGCACCATGTCCTGTGTGCAT	0.408000														230			4		0	0	0.184627	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364734	117364734	+	Silent	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:117364734T>A	uc003vjf.3	-	18	4406	c.4314A>T	c.(4312-4314)atA>atT	p.I1438I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1438								p.S1437S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACTGGAAACTATGGATAAAG	0.438000														50			15		0	0	0.146539	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904114	21904114	+	RNA	SNP	A	G	G	rs75848292		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:21904114A>G	uc002gza.2	+	0		c.53A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		tccggctgccaggagtcgcaa	0.687000														84			4		0	0	0.217242	0	0
TNKS2	80351	broad.mit.edu	37	10	93593686	93593686	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:93593686T>C	uc001khp.3	+	11	1649	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P	Mir_584_uc021pwf.1_5'Flank	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	451					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.R450H(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTGCCGCCTACTCCTGAGC	0.413000														27			15		0	0	0.119110	0	0
PCYT1A	5130	broad.mit.edu	37	3	195974373	195974373	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:195974373G>A	uc003fwg.3	-	5	524	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PCYT1A_uc003fwh.3_Silent_p.L117L	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	117	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGTTGTGTGTGAGCTCATCAC	0.527000														246			73		0	0	0.323286	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075425	106075425	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:106075425C>T	uc001kyf.3	-	2	838	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ITPRIP_uc001kye.3_Missense_Mutation_p.A129T|ITPRIP_uc001kyg.3_Missense_Mutation_p.A129T|ITPRIP_uc021pxv.1_Missense_Mutation_p.A129T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	129						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAAGGGGGCGCCCCCCAGC	0.692000														154			71		0	0	0.323286	0	0
ABCG4	64137	broad.mit.edu	37	11	119027678	119027678	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:119027678G>T	uc001pvs.3	+	8	1358	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	ABCG4_uc009zar.3_Missense_Mutation_p.S341I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	341					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGAAGAGCAGCCCTGAGAAG	0.607000														266			105		1.92787e-56	2.25335e-56	0.323286	1	0
MAP3K14	9020	broad.mit.edu	37	17	43364549	43364549	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:43364549C>T	uc002iiw.1	-	3	617	c.508G>A	c.(508-510)Gag>Aag	p.E170K	MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	170					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCTCCTGCTCAGGGGTCCTG	0.617000														102			27		0	0	0.353513	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467607	35467607	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr21:35467607G>A	uc021wir.1	+	0	110	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC5A3_uc002yto.3_Missense_Mutation_p.S37N|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	37						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACCGTGAGTGGATACTTC	0.488000														42			14		0	0	0.146539	0	0
GABRG2	2566	broad.mit.edu	37	5	161576298	161576298	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:161576298A>T	uc010jjc.3	+	8	1585	c.1227A>T	c.(1225-1227)aaA>aaT	p.K409N	GABRG2_uc003lyy.4_Missense_Mutation_p.K369N|GABRG2_uc003lyz.4_Missense_Mutation_p.K369N|GABRG2_uc011dej.2_Missense_Mutation_p.K274N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCAAGGACAAAGATAAAAAGA	0.373000														30			8		0	0	0.278610	0	0
NXNL1	115861	broad.mit.edu	37	19	17571478	17571478	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:17571478T>G	uc002ngs.3	-	0	248	c.201A>C	c.(199-201)gtA>gtC	p.V67V		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	67	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CCGCCCGCAGTACATAGAACT	0.582000														279			12		0	0	0.093190	0	0
TBCK	93627	broad.mit.edu	37	4	107092373	107092373	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:107092373G>A	uc010ilv.2	-	22	2479	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	TBCK_uc003hyb.2_Missense_Mutation_p.P448L|TBCK_uc003hye.2_Missense_Mutation_p.P666L|TBCK_uc003hyc.2_Missense_Mutation_p.P642L|TBCK_uc003hyd.2_Missense_Mutation_p.P533L|TBCK_uc003hyf.2_Missense_Mutation_p.P705L	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	705						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGCACTTTTAGGAGTCCAACA	0.398000														24			3		0	0	0.115264	0	0
ASGR1	432	broad.mit.edu	37	17	7081872	7081872	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:7081872T>G	uc002ges.4	-	1	411	c.11A>C	c.(10-12)gAg>gCg	p.E4A	ASGR1_uc021toy.1_Missense_Mutation_p.E4A|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	4					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTCTTGATACTCCTTGGTCAT	0.577000														102			93		0	0	0.323286	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														24			4		2.56e-06	2.64828e-06	0.150653	1	0
KIAA0664	23277	broad.mit.edu	37	17	2604434	2604434	+	Splice_Site	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:2604434C>T	uc002fuy.1	-	7	997	c.911_splice	c.e7+1	p.R304_splice	KIAA0664_uc002fux.1_Splice_Site_p.R236_splice	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	304							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AAGGCACTACCTTTTCTTCTG	0.602000														73			52		0	0	0.323286	0	0
EIF3G	8666	broad.mit.edu	37	19	10230530	10230530	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:10230530A>G	uc002mnd.3	-	0	70	c.6T>C	c.(4-6)ccT>ccC	p.P2P	EIF3G_uc010dxa.3_Silent_p.P2P|EIF3G_uc010xlb.2_Silent_p.P2P	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	2						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTCTCCAGTAGGCATCGCAA	0.642000											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			48		0	0	0.323286	0	0
ACE	1636	broad.mit.edu	37	17	61562641	61562641	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:61562641T>C	uc002jau.2	+	12	2000	c.1966T>C	c.(1966-1968)Tat>Cat	p.Y656H	ACE_uc010ddu.2_Missense_Mutation_p.Y473H|ACE_uc010wpj.2_Missense_Mutation_p.Y82H|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.Y82H|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	656	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGTGGAGGAATATGACCGGAC	0.552000														92			80		0	0	0.323286	0	0
FAM188A	80013	broad.mit.edu	37	10	15879212	15879212	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:15879212T>A	uc001iod.1	-	5	788	c.567A>T	c.(565-567)ttA>ttT	p.L189F	FAM188A_uc001ioe.1_Missense_Mutation_p.L16F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	189					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCTTTGTCAGTAATACAGAAT	0.353000														12			6		0	0	0.278610	0	0
TMC3	342125	broad.mit.edu	37	15	81648105	81648105	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:81648105G>A	uc021ssk.1	-	8	896	c.896C>T	c.(895-897)gCt>gTt	p.A299V	TMC3_uc021ssj.1_Missense_Mutation_p.A299V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A299V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	299						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCCAATATAGCTTCCTTTAA	0.284000														44			15		0	0	0.132662	0	0
FAM135A	57579	broad.mit.edu	37	6	71234676	71234676	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:71234676T>A	uc003pfj.3	+	12	2022	c.1889T>A	c.(1888-1890)aTg>aAg	p.M630K	FAM135A_uc003pfi.3_Missense_Mutation_p.M434K|FAM135A_uc003pfh.3_Missense_Mutation_p.M417K|FAM135A_uc003pfl.3_Missense_Mutation_p.M297K|FAM135A_uc003pfn.3_Missense_Mutation_p.M60K|FAM135A_uc003pfo.1_Missense_Mutation_p.M1K	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	630								p.S629S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTACACAAATGGAACACAAT	0.393000														10			11		0	0	0.105934	0	0
MNT	4335	broad.mit.edu	37	17	2298597	2298597	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:2298597T>G	uc002fur.3	-	1	477	c.225A>C	c.(223-225)gcA>gcC	p.A75A		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	75					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.A75A(2)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		gtggtgggggtgccggcgggg	0.682000														18			6		0	0	0.279207	0	0
ITGB5	3693	broad.mit.edu	37	3	124515614	124515614	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:124515614C>T	uc003eho.3	-	9	1611	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	438					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACACATGCTCCGTGTGTCTGC	0.612000														102			24		0	0	0.309145	0	0
SUSD2	56241	broad.mit.edu	37	22	24581140	24581140	+	Silent	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:24581140C>A	uc002zzn.1	+	5	905	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	287	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCTGTGGCCTGGGCACGAA	0.662000														43			18		1.33834e-09	1.47386e-09	0.043863	1	0
WDR66	144406	broad.mit.edu	37	12	122413567	122413567	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr12:122413567T>C	uc009zxk.3	+	18	3141	c.2982T>C	c.(2980-2982)atT>atC	p.I994I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	994							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGAGCAATTGGCTTTTACC	0.438000														81			46		0	0	0.131918	0	0
ARF5	381	broad.mit.edu	37	7	127229193	127229193	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:127229193A>G	uc003vmb.2	+	1	271	c.124A>G	c.(124-126)Att>Gtt	p.I42V	ARF5_uc010llb.2_Missense_Mutation_p.I42V|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	42					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GTTGGGGGAGATTGTCACCAC	0.632000											OREG0018287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			36		0	0	0.069456	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657190	100657190	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:100657190C>T	uc002bvv.1	-	12	1829	c.1750G>A	c.(1750-1752)Ggt>Agt	p.G584S	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G341S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	584	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACACTGGCACCCGGGCAGTGT	0.632000														24			16		0	0	0.146539	0	0
FRMD6	122786	broad.mit.edu	37	14	52182105	52182105	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:52182105G>T	uc001wzd.3	+	9	1197	c.912G>T	c.(910-912)acG>acT	p.T304T	FRMD6_uc001wzb.3_Silent_p.T296T|FRMD6_uc001wzc.3_Silent_p.T296T|FRMD6_uc001wze.3_Silent_p.T227T|FRMD6_uc001wzf.3_5'UTR|FRMD6_uc001wzg.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	304	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TATACTACACGGGGTGCCCCA	0.507000														126			13		1.61879e-10	1.82902e-10	0.093190	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955994	18955994	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:18955994A>T	uc001mpg.3	-	0	556	c.338T>A	c.(337-339)cTg>cAg	p.L113Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	113					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACGGCACTCAGAAAGCTCAG	0.542000														124			5		0	0	0.021553	0	0
GRHL1	29841	broad.mit.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	A	A	rs140278187		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:10101557G>A	uc002raa.3	+	3	832	c.661G>A	c.(661-663)Gtt>Att	p.V221I	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.A57A|GRHL1_uc010yjb.2_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	221					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463000														108			47		0	0	0.139131	0	0
LRIG2	9860	broad.mit.edu	37	1	113616165	113616165	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:113616165C>A	uc001edf.1	+	0	335	c.137C>A	c.(136-138)cCc>cAc	p.P46H	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	46	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCCCCGCGCCCTGCTCCTGC	0.652000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			48		1.98717e-13	2.27478e-13	0.139131	1	0
NEB	4703	broad.mit.edu	37	2	152484285	152484285	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:152484285C>A	uc021vrb.1	-	63	9195	c.9166G>T	c.(9166-9168)Gat>Tat	p.D3056Y	NEB_uc002txu.3_Missense_Mutation_p.D3299Y|NEB_uc021vrc.1_Missense_Mutation_p.D3299Y|NEB_uc010fnx.3_Missense_Mutation_p.D3044Y|NEB_uc021vrd.1_Missense_Mutation_p.D3056Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3056					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGGGTCATCTTCAATGTTC	0.453000														471			7		2.0095e-06	2.13203e-06	0.029380	1	0
ABCG4	64137	broad.mit.edu	37	11	119027678	119027678	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:119027678G>T	uc001pvs.3	+	8	1358	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	ABCG4_uc009zar.3_Missense_Mutation_p.S341I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	341					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGAAGAGCAGCCCTGAGAAG	0.607000														125			62		7.59065e-32	8.92414e-32	0.139131	1	0
KIAA1429	25962	broad.mit.edu	37	8	95507107	95507107	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:95507107A>G	uc003ygo.2	-	19	4693	c.4622T>C	c.(4621-4623)aTa>aCa	p.I1541T	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1541					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATCTGTATCTATCTCTTCAGC	0.318000														311			6		0	0	0.021553	0	0
RDH12	145226	broad.mit.edu	37	14	68191259	68191259	+	Silent	SNP	C	T	T	rs140371232		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:68191259C>T	uc001xjz.4	+	3	462	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	46					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	p.G46G(2)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGATCACTGGCGCCAACACGG	0.542000														153			5		0	0	0.021553	0	0
AP4M1	9179	broad.mit.edu	37	7	99700326	99700326	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:99700326T>C	uc003utb.4	+	2	384	c.176T>C	c.(175-177)aTc>aCc	p.I59T	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.I59T|AP4M1_uc010lgl.1_Missense_Mutation_p.I59T|AP4M1_uc003utd.3_Missense_Mutation_p.I59T|AP4M1_uc011kjh.2_Missense_Mutation_p.I11T|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	59					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCAGACACAGC	0.527000														175			47		0	0	0.139131	0	0
TNFSF8	944	broad.mit.edu	37	9	117666220	117666220	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr9:117666220A>C	uc004bji.2	-	3	988	c.696T>G	c.(694-696)aaT>aaG	p.N232K	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	232					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCAGTCTGAATTACTGTATA	0.408000														165			72		0	0	0.139131	0	0
OR4C11	219429	broad.mit.edu	37	11	55371692	55371692	+	Missense_Mutation	SNP	A	T	T	rs151111921	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr11:55371692A>T	uc010rii.2	-	0	183	c.158T>A	c.(157-159)cTa>cAa	p.L53Q		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGGGCTTCCTAGTGTCCGGCT	0.398000														150			75		0	0	0.139131	0	0
BRE	9577	broad.mit.edu	37	2	28550286	28550286	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:28550286A>G	uc002rls.3	+	11	1486	c.1234A>G	c.(1234-1236)Aga>Gga	p.R412G	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGAGGGAGAGAGAACTGCTCA	0.478000														255			6		0	0	0.029380	0	0
TMEM37	140738	broad.mit.edu	37	2	120194829	120194829	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:120194829T>C	uc002tly.3	+	1	420	c.386T>C	c.(385-387)aTc>aCc	p.I129T		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	129						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGGGTTCCATCCTCCTCCTG	0.567000														291			105		0	0	0.139131	0	0
TTLL1	25809	broad.mit.edu	37	22	43442517	43442517	+	Silent	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:43442517C>G	uc003bdi.3	-	9	1282	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	TTLL1_uc010gzh.3_Silent_p.L318L|TTLL1_uc021wqt.1_Silent_p.L309L|TTLL1_uc003bdj.3_Silent_p.L233L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	347	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTCATTAATCAGGTTGTACT	0.512000														254			11		0	0	0.093190	0	0
ABRA	137735	broad.mit.edu	37	8	107782408	107782408	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:107782408C>A	uc003ymm.4	-	0	65	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCCTTTTCGCCCGGAGCCAT	0.597000														77			21		3.62473e-10	4.04297e-10	0.062417	1	0
IFT140	9742	broad.mit.edu	37	16	1608090	1608090	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:1608090G>T	uc002cmb.3	-	18	2607	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	IFT140_uc002clz.3_Missense_Mutation_p.H400N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	749										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAGGGATGTGGTGGCACCCA	0.552000														355			134		8.08879e-62	9.64007e-62	0.139131	1	0
LRRC33	375387	broad.mit.edu	37	3	196387840	196387840	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:196387840C>T	uc003fwv.3	+	2	1430	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	442						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACTTTGTCCCCTGCCAGCTG	0.592000														222			164		0	0	0.139131	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956361	128956361	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:128956361A>G	uc003kvb.1	+	8	1511	c.1511A>G	c.(1510-1512)cAt>cGt	p.H504R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	504	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATGGTCTTCATATCATGTCT	0.373000														241			10		0	0	0.069234	0	0
GRM2	2912	broad.mit.edu	37	3	51746862	51746862	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:51746862C>T	uc010hlv.3	+	2	1063	c.824C>T	c.(823-825)gCc>gTc	p.A275V	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	275					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCTGAGGATGCCCGGGAGCTG	0.677000														94			4		0	0	0.009096	0	0
PFAS	5198	broad.mit.edu	37	17	8170542	8170542	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:8170542C>T	uc002gkr.3	+	23	3305	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	PFAS_uc010vuv.2_Missense_Mutation_p.P631L|PFAS_uc002gks.3_Missense_Mutation_p.P134L	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1055					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCCGTGCCCCGTGAGCCT	0.677000														26			12		0	0	0.080935	0	0
GOLT1A	127845	broad.mit.edu	37	1	204183026	204183026	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:204183026G>T	uc001has.1	-	0	195	c.9C>A	c.(7-9)tcC>tcA	p.S3S	GOLT1A_uc001hat.1_Silent_p.S3S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	3					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			ATTCGGTGATGGAGATCATGC	0.642000														31			7		3.09899e-07	3.37015e-07	0.047766	1	0
SEMA5A	9037	broad.mit.edu	37	5	9226981	9226981	+	Splice_Site	SNP	C	T	T	rs141767878		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:9226981C>T	uc003jek.2	-	7	1144	c.432_splice	c.e7+1	p.S144_splice		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	144	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGCCATACCGAGCGGTTGG	0.438000														89			5		0	0	0.021553	0	0
DAZAP1	26528	broad.mit.edu	37	19	1428875	1428875	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:1428875A>G	uc002lsn.3	+	7	770	c.581A>G	c.(580-582)aAg>aGg	p.K194R	DAZAP1_uc002lsm.3_Missense_Mutation_p.K194R	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	194					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACAGCAAGAGCCAAGCG	0.657000														50			18		0	0	0.069288	0	0
EEF2	1938	broad.mit.edu	37	19	3979985	3979985	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:3979985C>T	uc002lze.3	-	9	1509	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	476						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTGGTCCACGCCCACG	0.592000														47			17		0	0	0.055883	0	0
MRPL13	28998	broad.mit.edu	37	8	121455496	121455496	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:121455496G>A	uc003ypa.3	-	1	393	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.3_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	27					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.Q26R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGCCAGGTGGCTGCATTTT	0.373000														115			55		0	0	0.139131	0	0
VPS4B	9525	broad.mit.edu	37	18	61058289	61058289	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr18:61058289T>C	uc002lix.3	-	10	1514	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	418					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTGTTAGATAGTGACCGCA	0.348000														103			16		0	0	0.146539	0	0
ATP1B1	481	broad.mit.edu	37	1	169096584	169096584	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169096584T>C	uc001gfr.1	+	3	626	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	169					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AACTTATGGCTACAAAGAGGG	0.388000														95			49		0	0	0.139131	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978199	69978199	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:69978199A>G	uc003heg.4	+	5	1381	c.1335A>G	c.(1333-1335)ttA>ttG	p.L445L	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	445					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATGAAATTATCAAGAATTC	0.393000														167			59		0	0	0.139131	0	0
CYHR1	50626	broad.mit.edu	37	8	145690192	145690192	+	Splice_Site	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr8:145690192C>G	uc003zcv.2	-	1	288	c.93_splice	c.e1+1	p.E31_splice	CYHR1_uc003zcw.2_Splice_Site_p.E31_splice|CYHR1_uc003zcx.2_Splice_Site_p.E31_splice|CYHR1_uc003zcy.2_Splice_Site_p.E31_splice|KIFC2_uc003zcz.3_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	Homo sapiens cysteine/histidine-rich 1 (CYHR1), transcript variant 1, mRNA.	31						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	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)			GTGTACTCACCTCGGCTGTGC	0.627000														26			12		0	0	0.033300	0	0
JAG2	3714	broad.mit.edu	37	14	105622266	105622266	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:105622266T>C	uc001yqg.3	-	3	940	c.536A>G	c.(535-537)aAg>aGg	p.K179R	JAG2_uc001yqh.3_Missense_Mutation_p.K179R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	179					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCAGGCTCTTCCAGCGGTC	0.632000														33			10		0	0	0.093190	0	0
DST	667	broad.mit.edu	37	6	56499603	56499603	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:56499603A>C	uc003pcy.4	-	10	1832	c.1724T>G	c.(1723-1725)aTt>aGt	p.I575S	DST_uc021zay.1_Missense_Mutation_p.I941S|DST_uc021zax.1_Missense_Mutation_p.I575S|DST_uc003pdc.4_Missense_Mutation_p.I575S|DST_uc003pdd.4_Missense_Mutation_p.I575S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	901					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGTACCTCAATTTGTCTGTA	0.358000														200			97		0	0	0.139131	0	0
BCKDHA	593	broad.mit.edu	37	19	41928188	41928188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:41928188C>G	uc002oqq.3	+	5	805	c.766C>G	c.(766-768)Ctt>Gtt	p.L256V	BCKDHA_uc002oqm.4_Missense_Mutation_p.L290V|BCKDHA_uc002oqp.2_Missense_Mutation_p.L148V|BCKDHA_uc002oqr.3_Missense_Mutation_p.L256V|BCKDHA_uc010xvz.2_Missense_Mutation_p.L234V	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGCTGCCACACTTGAGTGCCC	0.612000														96			26		0	0	0.069456	0	0
POU6F2	11281	broad.mit.edu	37	7	39500263	39500263	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:39500263A>G	uc003thb.2	+	9	1663	c.1520A>G	c.(1519-1521)cAg>cGg	p.Q507R	POU6F2_uc022acb.1_Missense_Mutation_p.Q507R	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	507	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q507L(2)|p.Q507R(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602000														14			7		0	0	0.047766	0	0
ANKFY1	51479	broad.mit.edu	37	17	4084580	4084580	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:4084580T>C	uc002fxn.3	-	15	2452	c.2335A>G	c.(2335-2337)Aac>Gac	p.N779D	ANKFY1_uc002fxo.3_Missense_Mutation_p.N738D|ANKFY1_uc002fxp.3_Missense_Mutation_p.N736D|ANKFY1_uc010ckp.3_Missense_Mutation_p.N679D|ANKFY1_uc002fxq.1_Missense_Mutation_p.N737D	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	737						endosome membrane	metal ion binding|protein binding	p.A779V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGGGCTCGTTGTTTTCATCA	0.522000														185			6		0	0	0.029380	0	0
EIF3G	8666	broad.mit.edu	37	19	10230530	10230530	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:10230530A>G	uc002mnd.3	-	0	70	c.6T>C	c.(4-6)ccT>ccC	p.P2P	EIF3G_uc010dxa.3_Silent_p.P2P|EIF3G_uc010xlb.2_Silent_p.P2P	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	2						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTCTCCAGTAGGCATCGCAA	0.642000											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			23		0	0	0.076483	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86921691	86921691	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:86921691A>G	uc003hpk.3	+	9	2512	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	ARHGAP24_uc003hpl.3_Missense_Mutation_p.D593G|ARHGAP24_uc010ikf.3_Missense_Mutation_p.D603G|ARHGAP24_uc003hpm.3_Missense_Mutation_p.D595G	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	688					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGAACTGGATCAGGAGAGG	0.448000														63			46		0	0	0.131918	0	0
ATP1A1	476	broad.mit.edu	37	1	116941400	116941400	+	Missense_Mutation	SNP	G	C	C	rs11540954		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:116941400G>C	uc001ege.3	+	15	2621	c.2282G>C	c.(2281-2283)gGa>gCa	p.G761A	ATP1A1_uc010owv.1_Missense_Mutation_p.G730A|ATP1A1_uc010oww.2_Missense_Mutation_p.G761A|ATP1A1_uc010owx.2_Missense_Mutation_p.G730A|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	761					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATTGTGACTGGAGTAGAGGAA	0.438000														108			50		0	0	0.139131	0	0
ZNF627	199692	broad.mit.edu	37	19	11728624	11728624	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:11728624G>T	uc002msk.2	+	3	1514	c.1306G>T	c.(1306-1308)Gta>Tta	p.V436L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R435Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTACTTTCGAGTACATGAAAA	0.423000														102			36		1.836e-18	2.12976e-18	0.064281	1	0
KCNH7	90134	broad.mit.edu	37	2	163241347	163241347	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr2:163241347A>G	uc002uch.2	-	12	3042	c.2813T>C	c.(2812-2814)aTc>aCc	p.I938T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGGAGATGAAAGATGA	0.408000														273			117		0	0	0.139131	0	0
KRBA1	84626	broad.mit.edu	37	7	149422542	149422542	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:149422542G>C	uc003wfz.3	+	9	1662	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.Q89H	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	421										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTCTCAGAAGCCTGAAC	0.597000														37			3		0	0	0.009096	0	0
CLOCK	9575	broad.mit.edu	37	4	56301654	56301654	+	Silent	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:56301654A>T	uc003haz.1	-	23	3395	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	CLOCK_uc003hba.1_Silent_p.S823S|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	823	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCTGTTGCTGAGACTGATGTT	0.527000														113			50		0	0	0.139131	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117396642	117396642	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:117396642G>A	uc003vjf.3	-	11	3407	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1105										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGGAGAGGGATCATGGAGG	0.498000														194			7		0	0	0.047766	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86215	86215	+	RNA	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chrGL000211.1:86215C>T	uc003bnz.1	+	5		c.963C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAGTTGACCCGCTGTTTGTT	0.423000														13			3		0	0	0.014758	0	0
RBBP6	5930	broad.mit.edu	37	16	24551952	24551952	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:24551952C>G	uc002dmh.3	+	0	1045	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Missense_Mutation_p.S2C|RBBP6_uc002dmi.3_Missense_Mutation_p.S2C|RBBP6_uc010bxr.3_Missense_Mutation_p.S2C|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	2					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGCACCATGTCCTGTGTGCAT	0.408000														191			6		0	0	0.021553	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364734	117364734	+	Silent	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:117364734T>A	uc003vjf.3	-	18	4406	c.4314A>T	c.(4312-4314)atA>atT	p.I1438I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1438								p.S1437S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACTGGAAACTATGGATAAAG	0.438000														113			46		0	0	0.139131	0	0
TNKS2	80351	broad.mit.edu	37	10	93593686	93593686	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:93593686T>C	uc001khp.3	+	11	1649	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P	Mir_584_uc021pwf.1_5'Flank	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	451					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.R450H(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTGCCGCCTACTCCTGAGC	0.413000														150			73		0	0	0.139131	0	0
PCYT1A	5130	broad.mit.edu	37	3	195974373	195974373	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:195974373G>A	uc003fwg.3	-	5	524	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PCYT1A_uc003fwh.3_Silent_p.L117L	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	117	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGTTGTGTGTGAGCTCATCAC	0.527000														149			53		0	0	0.139131	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	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														88			4		0	0	0.038147	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075425	106075425	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:106075425C>T	uc001kyf.3	-	2	838	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ITPRIP_uc001kye.3_Missense_Mutation_p.A129T|ITPRIP_uc001kyg.3_Missense_Mutation_p.A129T|ITPRIP_uc021pxv.1_Missense_Mutation_p.A129T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	129						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAAGGGGGCGCCCCCCAGC	0.692000														81			65		0	0	0.139131	0	0
BMPR1B	658	broad.mit.edu	37	4	96025660	96025660	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:96025660G>A	uc003htm.4	+	3	359	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	BMPR1B_uc010ilb.3_Missense_Mutation_p.V29I|BMPR1B_uc003htn.4_Missense_Mutation_p.V29I	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	29					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCGTCCAAAGGTCTTGCGTTG	0.423000														100			47		0	0	0.139131	0	0
ZNF500	26048	broad.mit.edu	37	16	4810588	4810588	+	Splice_Site	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr16:4810588A>C	uc002cxp.1	-	5	911	c.664_splice	c.e5-1	p.V222_splice	ZNF500_uc002cxo.1_Splice_Site_p.V14_splice|ZNF500_uc010uxt.1_Splice_Site_p.V222_splice	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V222G(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCACGGGCACCTGCCAGAA	0.637000														99			11		0	0	0.059317	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364549	43364549	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:43364549C>T	uc002iiw.1	-	3	617	c.508G>A	c.(508-510)Gag>Aag	p.E170K	MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	170					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCTCCTGCTCAGGGGTCCTG	0.617000														61			19		0	0	0.043863	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467607	35467607	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr21:35467607G>A	uc021wir.1	+	0	110	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC5A3_uc002yto.3_Missense_Mutation_p.S37N|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	37						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACCGTGAGTGGATACTTC	0.488000														142			89		0	0	0.139131	0	0
GABRG2	2566	broad.mit.edu	37	5	161576298	161576298	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr5:161576298A>T	uc010jjc.3	+	8	1585	c.1227A>T	c.(1225-1227)aaA>aaT	p.K409N	GABRG2_uc003lyy.4_Missense_Mutation_p.K369N|GABRG2_uc003lyz.4_Missense_Mutation_p.K369N|GABRG2_uc011dej.2_Missense_Mutation_p.K274N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCAAGGACAAAGATAAAAAGA	0.373000														102			51		0	0	0.139131	0	0
NXNL1	115861	broad.mit.edu	37	19	17571478	17571478	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:17571478T>G	uc002ngs.3	-	0	248	c.201A>C	c.(199-201)gtA>gtC	p.V67V		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	67	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CCGCCCGCAGTACATAGAACT	0.582000														137			4		0	0	0.009096	0	0
VARS	7407	broad.mit.edu	37	6	31753451	31753451	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:31753451G>A	uc003nxe.3	-	8	1583	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	387					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACCTGGGTGGCAATACCTGC	0.632000														122			4		0	0	0.009096	0	0
FREM1	158326	broad.mit.edu	37	9	14824065	14824065	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr9:14824065T>G	uc003zlm.3	-	12	2943	c.2127A>C	c.(2125-2127)gtA>gtC	p.V709V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	709					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GATTCTTAACTACTTTTGGTA	0.408000														17			5		0	0	0.014758	0	0
ASGR1	432	broad.mit.edu	37	17	7081872	7081872	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:7081872T>G	uc002ges.4	-	1	411	c.11A>C	c.(10-12)gAg>gCg	p.E4A	ASGR1_uc021toy.1_Missense_Mutation_p.E4A|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	4					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTCTTGATACTCCTTGGTCAT	0.577000														56			47		0	0	0.124865	0	0
KIAA0664	23277	broad.mit.edu	37	17	2604434	2604434	+	Splice_Site	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:2604434C>T	uc002fuy.1	-	7	997	c.911_splice	c.e7+1	p.R304_splice	KIAA0664_uc002fux.1_Splice_Site_p.R236_splice	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	304							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AAGGCACTACCTTTTCTTCTG	0.602000														29			33		0	0	0.059317	0	0
ITGB5	3693	broad.mit.edu	37	3	124515613	124515613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:124515613C>A	uc003eho.3	-	9	1612	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	439					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.E439A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AACACATGCTCCGTGTGTCTG	0.612000														55			19		0.000958276	0.0009925	0.043863	1	0
ACE	1636	broad.mit.edu	37	17	61562641	61562641	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:61562641T>C	uc002jau.2	+	12	2000	c.1966T>C	c.(1966-1968)Tat>Cat	p.Y656H	ACE_uc010ddu.2_Missense_Mutation_p.Y473H|ACE_uc010wpj.2_Missense_Mutation_p.Y82H|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.Y82H|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	656	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGTGGAGGAATATGACCGGAC	0.552000														47			46		0	0	0.139131	0	0
FAM188A	80013	broad.mit.edu	37	10	15879212	15879212	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr10:15879212T>A	uc001iod.1	-	5	788	c.567A>T	c.(565-567)ttA>ttT	p.L189F	FAM188A_uc001ioe.1_Missense_Mutation_p.L16F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	189					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCTTTGTCAGTAATACAGAAT	0.353000														173			76		0	0	0.139131	0	0
TMC3	342125	broad.mit.edu	37	15	81648105	81648105	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr15:81648105G>A	uc021ssk.1	-	8	896	c.896C>T	c.(895-897)gCt>gTt	p.A299V	TMC3_uc021ssj.1_Missense_Mutation_p.A299V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A299V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	299						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCCAATATAGCTTCCTTTAA	0.284000														64			30		0	0	0.045705	0	0
FAM135A	57579	broad.mit.edu	37	6	71234676	71234676	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr6:71234676T>A	uc003pfj.3	+	12	2022	c.1889T>A	c.(1888-1890)aTg>aAg	p.M630K	FAM135A_uc003pfi.3_Missense_Mutation_p.M434K|FAM135A_uc003pfh.3_Missense_Mutation_p.M417K|FAM135A_uc003pfl.3_Missense_Mutation_p.M297K|FAM135A_uc003pfn.3_Missense_Mutation_p.M60K|FAM135A_uc003pfo.1_Missense_Mutation_p.M1K	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	630								p.S629S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTACACAAATGGAACACAAT	0.393000														69			47		0	0	0.139131	0	0
TOR1A	1861	broad.mit.edu	37	9	132584984	132584984	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr9:132584984C>T	uc004byl.3	-	1	397	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_uc004byn.3_Missense_Mutation_p.G107D	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	107					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.G107D(8)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468000														352			6		0	0	0.029380	0	0
ITGB5	3693	broad.mit.edu	37	3	124515614	124515614	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:124515614C>T	uc003eho.3	-	9	1611	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	438					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACACATGCTCCGTGTGTCTGC	0.612000														55			20		0	0	0.049695	0	0
MST1P2	11209	broad.mit.edu	37	1	16976825	16976825	+	RNA	SNP	C	A	A	rs2761525	by1000genomes	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:16976825C>A	uc010och.2	+	13		c.2546C>A			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.																		taataaaattcatatttttac	0.373000														29			3		0.00198382	0.0021019	0.001984	1	0
WDR66	144406	broad.mit.edu	37	12	122413567	122413567	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr12:122413567T>C	uc009zxk.3	+	18	3141	c.2982T>C	c.(2980-2982)atT>atC	p.I994I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	994							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGAGCAATTGGCTTTTACC	0.438000														122			46		0	0	0.014410	0	0
ARF5	381	broad.mit.edu	37	7	127229193	127229193	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:127229193A>G	uc003vmb.2	+	1	271	c.124A>G	c.(124-126)Att>Gtt	p.I42V	ARF5_uc010llb.2_Missense_Mutation_p.I42V|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	42					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GTTGGGGGAGATTGTCACCAC	0.632000											OREG0018287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		116			83		0	0	0.014410	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657190	100657190	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr15:100657190C>T	uc002bvv.1	-	12	1829	c.1750G>A	c.(1750-1752)Ggt>Agt	p.G584S	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G341S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	584	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACACTGGCACCCGGGCAGTGT	0.632000														56			24		0	0	0.018920	0	0
SUSD2	56241	broad.mit.edu	37	22	24581140	24581140	+	Silent	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:24581140C>A	uc002zzn.1	+	5	905	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	287	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCTGTGGCCTGGGCACGAA	0.662000														85			28		1.75199e-13	1.99906e-13	0.007291	1	0
BMPR1B	658	broad.mit.edu	37	4	96025660	96025660	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:96025660G>A	uc003htm.4	+	3	359	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	BMPR1B_uc010ilb.3_Missense_Mutation_p.V29I|BMPR1B_uc003htn.4_Missense_Mutation_p.V29I	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	29					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCGTCCAAAGGTCTTGCGTTG	0.423000														15			4		0	0	0.021553	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955994	18955994	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:18955994A>T	uc001mpg.3	-	0	556	c.338T>A	c.(337-339)cTg>cAg	p.L113Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	113					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACGGCACTCAGAAAGCTCAG	0.542000														255			10		0	0	0.006214	0	0
GRHL1	29841	broad.mit.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	A	A	rs140278187		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:10101557G>A	uc002raa.3	+	3	832	c.661G>A	c.(661-663)Gtt>Att	p.V221I	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.A57A|GRHL1_uc010yjb.2_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	221					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463000														96			45		0	0	0.010771	0	0
LRIG2	9860	broad.mit.edu	37	1	113616165	113616165	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:113616165C>A	uc001edf.1	+	0	335	c.137C>A	c.(136-138)cCc>cAc	p.P46H	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	46	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCCCCGCGCCCTGCTCCTGC	0.652000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		305			94		7.68471e-68	9.36903e-68	0.014410	1	0
PTPN18	26469	broad.mit.edu	37	2	131130764	131130764	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:131130764C>T	uc002trc.3	+	14	1451	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	PTPN18_uc002trb.3_Silent_p.P343P|PTPN18_uc002tre.3_Silent_p.P101P	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	450						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CGAAGGGTCCCCGGGACCCGC	0.617000														53			4		0	0	0.009096	0	0
MRPL13	28998	broad.mit.edu	37	8	121455496	121455496	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:121455496G>A	uc003ypa.3	-	1	393	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.3_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	27					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.Q26R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGCCAGGTGGCTGCATTTT	0.373000														25			8		0	0	0.006214	0	0
DDX12P	440081	broad.mit.edu	37	12	9573997	9573997	+	RNA	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr12:9573997T>G	uc021qut.1	-	10		c.1401A>C			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		CTGAGGCAGGTCTCTCTTCTG	0.617000														20			6		0	0	0.014410	0	0
AP4M1	9179	broad.mit.edu	37	7	99700326	99700326	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:99700326T>C	uc003utb.4	+	2	384	c.176T>C	c.(175-177)aTc>aCc	p.I59T	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.I59T|AP4M1_uc010lgl.1_Missense_Mutation_p.I59T|AP4M1_uc003utd.3_Missense_Mutation_p.I59T|AP4M1_uc011kjh.2_Missense_Mutation_p.I11T|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	59					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCAGACACAGC	0.527000														246			59		0	0	0.014410	0	0
TNFSF8	944	broad.mit.edu	37	9	117666220	117666220	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:117666220A>C	uc004bji.2	-	3	988	c.696T>G	c.(694-696)aaT>aaG	p.N232K	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	232					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCAGTCTGAATTACTGTATA	0.408000														31			20		0	0	0.014323	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	Silent	SNP	T	C	C	rs139643347	by1000genomes	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:141070111T>C	uc010ncq.3	+	3	1191	c.351T>C	c.(349-351)tcT>tcC	p.S117S						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000														189			9		0	0	0.006122	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95665021	95665021	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:95665021G>A	uc003uoc.4	+	12	1649	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	DYNC1I1_uc003uod.4_Missense_Mutation_p.G441S|DYNC1I1_uc003uob.3_Missense_Mutation_p.G421S|DYNC1I1_uc003uoe.4_Missense_Mutation_p.G438S|DYNC1I1_uc010lfl.3_Missense_Mutation_p.G447S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	458					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTCGTGGTTGGCAGTGAGGA	0.463000														69			3		0	0	0.004672	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055802	85055802	+	RNA	SNP	C	A	A	rs1727704		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr15:85055802C>A	uc002bkm.2	-	5		c.758G>T								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GCCTCTCCTCCTGTTCACGTA	0.552000														10			3		0.004672	0.00489186	0.004672	1	0
DOCK5	80005	broad.mit.edu	37	8	25190182	25190182	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:25190182T>C	uc003xeg.3	+	19	2202	c.2065T>C	c.(2065-2067)Tat>Cat	p.Y689H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.Y403H|DOCK5_uc003xei.3_Missense_Mutation_p.Y259H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	689						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGTGAAACCTATGACTTCCT	0.328000														8			2		0	0	0.004672	0	0
OR4C11	219429	broad.mit.edu	37	11	55371692	55371692	+	Missense_Mutation	SNP	A	T	T	rs151111921	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:55371692A>T	uc010rii.2	-	0	183	c.158T>A	c.(157-159)cTa>cAa	p.L53Q		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGGGCTTCCTAGTGTCCGGCT	0.398000														14			7		0	0	0.003080	0	0
TMEM37	140738	broad.mit.edu	37	2	120194829	120194829	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:120194829T>C	uc002tly.3	+	1	420	c.386T>C	c.(385-387)aTc>aCc	p.I129T		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	129						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGGGTTCCATCCTCCTCCTG	0.567000														516			204		0	0	0.014410	0	0
TTLL1	25809	broad.mit.edu	37	22	43442517	43442517	+	Silent	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:43442517C>G	uc003bdi.3	-	9	1282	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	TTLL1_uc010gzh.3_Silent_p.L318L|TTLL1_uc021wqt.1_Silent_p.L309L|TTLL1_uc003bdj.3_Silent_p.L233L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	347	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTCATTAATCAGGTTGTACT	0.512000														420			13		0	0	0.016723	0	0
ABRA	137735	broad.mit.edu	37	8	107782408	107782408	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:107782408C>A	uc003ymm.4	-	0	65	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCCTTTTCGCCCGGAGCCAT	0.597000														131			50		2.23044e-30	2.64678e-30	0.014410	1	0
IFT140	9742	broad.mit.edu	37	16	1608090	1608090	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:1608090G>T	uc002cmb.3	-	18	2607	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	IFT140_uc002clz.3_Missense_Mutation_p.H400N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	749										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAGGGATGTGGTGGCACCCA	0.552000														472			266		1.22476e-156	1.51394e-156	0.014410	1	0
LRRC33	375387	broad.mit.edu	37	3	196387840	196387840	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:196387840C>T	uc003fwv.3	+	2	1430	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	442						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACTTTGTCCCCTGCCAGCTG	0.592000														388			323		0	0	0.014410	0	0
PFAS	5198	broad.mit.edu	37	17	8170542	8170542	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:8170542C>T	uc002gkr.3	+	23	3305	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	PFAS_uc010vuv.2_Missense_Mutation_p.P631L|PFAS_uc002gks.3_Missense_Mutation_p.P134L	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1055					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCCGTGCCCCGTGAGCCT	0.677000														47			21		0	0	0.016522	0	0
GOLT1A	127845	broad.mit.edu	37	1	204183026	204183026	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:204183026G>T	uc001has.1	-	0	195	c.9C>A	c.(7-9)tcC>tcA	p.S3S	GOLT1A_uc001hat.1_Silent_p.S3S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	3					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			ATTCGGTGATGGAGATCATGC	0.642000														42			16		4.63292e-17	5.4254e-17	0.008871	1	0
SEMA5A	9037	broad.mit.edu	37	5	9226981	9226981	+	Splice_Site	SNP	C	T	T	rs141767878		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:9226981C>T	uc003jek.2	-	7	1144	c.432_splice	c.e7+1	p.S144_splice		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	144	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGCCATACCGAGCGGTTGG	0.438000														130			6		0	0	0.003080	0	0
DAZAP1	26528	broad.mit.edu	37	19	1428875	1428875	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:1428875A>G	uc002lsn.3	+	7	770	c.581A>G	c.(580-582)aAg>aGg	p.K194R	DAZAP1_uc002lsm.3_Missense_Mutation_p.K194R	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	194					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACAGCAAGAGCCAAGCG	0.657000														87			35		0	0	0.008740	0	0
EEF2	1938	broad.mit.edu	37	19	3979985	3979985	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:3979985C>T	uc002lze.3	-	9	1509	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	476						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTGGTCCACGCCCACG	0.592000														105			31		0	0	0.009535	0	0
VPS4B	9525	broad.mit.edu	37	18	61058289	61058289	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr18:61058289T>C	uc002lix.3	-	10	1514	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	418					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTGTTAGATAGTGACCGCA	0.348000														153			21		0	0	0.012319	0	0
ATP1B1	481	broad.mit.edu	37	1	169096584	169096584	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:169096584T>C	uc001gfr.1	+	3	626	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	169					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AACTTATGGCTACAAAGAGGG	0.388000														22			8		0	0	0.008291	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978199	69978199	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:69978199A>G	uc003heg.4	+	5	1381	c.1335A>G	c.(1333-1335)ttA>ttG	p.L445L	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	445					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATGAAATTATCAAGAATTC	0.393000														26			12		0	0	0.010729	0	0
CYHR1	50626	broad.mit.edu	37	8	145690192	145690192	+	Splice_Site	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:145690192C>G	uc003zcv.2	-	1	288	c.93_splice	c.e1+1	p.E31_splice	CYHR1_uc003zcw.2_Splice_Site_p.E31_splice|CYHR1_uc003zcx.2_Splice_Site_p.E31_splice|CYHR1_uc003zcy.2_Splice_Site_p.E31_splice|KIFC2_uc003zcz.3_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	Homo sapiens cysteine/histidine-rich 1 (CYHR1), transcript variant 1, mRNA.	31						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	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)			GTGTACTCACCTCGGCTGTGC	0.627000														60			17		0	0	0.018920	0	0
JAG2	3714	broad.mit.edu	37	14	105622266	105622266	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:105622266T>C	uc001yqg.3	-	3	940	c.536A>G	c.(535-537)aAg>aGg	p.K179R	JAG2_uc001yqh.3_Missense_Mutation_p.K179R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	179					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCAGGCTCTTCCAGCGGTC	0.632000														38			19		0	0	0.012319	0	0
DST	667	broad.mit.edu	37	6	56499603	56499603	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:56499603A>C	uc003pcy.4	-	10	1832	c.1724T>G	c.(1723-1725)aTt>aGt	p.I575S	DST_uc021zay.1_Missense_Mutation_p.I941S|DST_uc021zax.1_Missense_Mutation_p.I575S|DST_uc003pdc.4_Missense_Mutation_p.I575S|DST_uc003pdd.4_Missense_Mutation_p.I575S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	901					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGTACCTCAATTTGTCTGTA	0.358000														112			47		0	0	0.013114	0	0
BCKDHA	593	broad.mit.edu	37	19	41928188	41928188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:41928188C>G	uc002oqq.3	+	5	805	c.766C>G	c.(766-768)Ctt>Gtt	p.L256V	BCKDHA_uc002oqm.4_Missense_Mutation_p.L290V|BCKDHA_uc002oqp.2_Missense_Mutation_p.L148V|BCKDHA_uc002oqr.3_Missense_Mutation_p.L256V|BCKDHA_uc010xvz.2_Missense_Mutation_p.L234V	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGCTGCCACACTTGAGTGCCC	0.612000														147			55		0	0	0.014410	0	0
VRK3	51231	broad.mit.edu	37	19	50500776	50500776	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:50500776C>T	uc002prg.2	-	6	762	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	VRK3_uc002prh.1_Missense_Mutation_p.A222T|VRK3_uc002pri.1_Missense_Mutation_p.A172T|VRK3_uc010ens.2_Missense_Mutation_p.A222T|VRK3_uc010ybl.1_Missense_Mutation_p.A172T|VRK3_uc010ybm.1_Intron|VRK3_uc002prk.2_Missense_Mutation_p.A222T|VRK3_uc010ent.2_5'UTR|VRK3_uc002prl.3_Missense_Mutation_p.A222T|VRK3_uc010ybn.1_Intron	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	Homo sapiens vaccinia related kinase 3 (VRK3), transcript variant 1, mRNA.	222	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGAGGCTTGGCGGCCCGCTGG	0.592000														57			4		0	0	0.009096	0	0
ITGB5	3693	broad.mit.edu	37	3	124515613	124515613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:124515613C>A	uc003eho.3	-	9	1612	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	439					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.E439A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AACACATGCTCCGTGTGTCTG	0.612000														100			24		2.79863e-10	3.11348e-10	0.024334	1	0
LAMB1	3912	broad.mit.edu	37	7	107572755	107572755	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:107572755T>C	uc003vev.2	-	25	4489	c.4328A>G	c.(4327-4329)gAc>gGc	p.D1443G	LAMB1_uc003vew.2_Missense_Mutation_p.D1419G	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1419	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCTTCGTCAGTTCTGCA	0.572000														186			4		0	0	0.014758	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86921691	86921691	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:86921691A>G	uc003hpk.3	+	9	2512	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	ARHGAP24_uc003hpl.3_Missense_Mutation_p.D593G|ARHGAP24_uc010ikf.3_Missense_Mutation_p.D603G|ARHGAP24_uc003hpm.3_Missense_Mutation_p.D595G	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	688					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGAACTGGATCAGGAGAGG	0.448000														20			12		0	0	0.010729	0	0
HCFC1R1	54985	broad.mit.edu	37	16	3073346	3073346	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:3073346G>C	uc002csx.1	-	3	302	c.169C>G	c.(169-171)Cag>Gag	p.Q57E	HCFC1R1_uc002csy.1_Missense_Mutation_p.Q57E|HCFC1R1_uc002csz.1_Missense_Mutation_p.Q38E|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	57						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GACAGAAACTGCTTGCGCAGA	0.592000														402			8		0	0	0.004482	0	0
ATP1A1	476	broad.mit.edu	37	1	116941400	116941400	+	Missense_Mutation	SNP	G	C	C	rs11540954		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:116941400G>C	uc001ege.3	+	15	2621	c.2282G>C	c.(2281-2283)gGa>gCa	p.G761A	ATP1A1_uc010owv.1_Missense_Mutation_p.G730A|ATP1A1_uc010oww.2_Missense_Mutation_p.G761A|ATP1A1_uc010owx.2_Missense_Mutation_p.G730A|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	761					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATTGTGACTGGAGTAGAGGAA	0.438000														62			31		0	0	0.010818	0	0
ZNF627	199692	broad.mit.edu	37	19	11728624	11728624	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:11728624G>T	uc002msk.2	+	3	1514	c.1306G>T	c.(1306-1308)Gta>Tta	p.V436L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R435Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTACTTTCGAGTACATGAAAA	0.423000														46			17		3.32936e-07	3.65818e-07	0.006122	1	0
KCNH7	90134	broad.mit.edu	37	2	163241347	163241347	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:163241347A>G	uc002uch.2	-	12	3042	c.2813T>C	c.(2812-2814)aTc>aCc	p.I938T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGGAGATGAAAGATGA	0.408000														25			15		0	0	0.006122	0	0
KRBA1	84626	broad.mit.edu	37	7	149422542	149422542	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:149422542G>C	uc003wfz.3	+	9	1662	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.Q89H	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	421										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTCTCAGAAGCCTGAAC	0.597000														82			3		0	0	0.004672	0	0
CLOCK	9575	broad.mit.edu	37	4	56301654	56301654	+	Silent	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:56301654A>T	uc003haz.1	-	23	3395	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	CLOCK_uc003hba.1_Silent_p.S823S|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	823	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCTGTTGCTGAGACTGATGTT	0.527000														37			10		0	0	0.013537	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117396642	117396642	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:117396642G>A	uc003vjf.3	-	11	3407	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1105										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGGAGAGGGATCATGGAGG	0.498000														161			9		0	0	0.004482	0	0
RBBP6	5930	broad.mit.edu	37	16	24551952	24551952	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:24551952C>G	uc002dmh.3	+	0	1045	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Missense_Mutation_p.S2C|RBBP6_uc002dmi.3_Missense_Mutation_p.S2C|RBBP6_uc010bxr.3_Missense_Mutation_p.S2C|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	2					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGCACCATGTCCTGTGTGCAT	0.408000														230			4		0	0	0.014758	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364734	117364734	+	Silent	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:117364734T>A	uc003vjf.3	-	18	4406	c.4314A>T	c.(4312-4314)atA>atT	p.I1438I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1438								p.S1437S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACTGGAAACTATGGATAAAG	0.438000														50			15		0	0	0.028581	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														42			10		0	0	0.010729	0	0
TNKS2	80351	broad.mit.edu	37	10	93593686	93593686	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:93593686T>C	uc001khp.3	+	11	1649	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P	Mir_584_uc021pwf.1_5'Flank	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	451					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.R450H(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTGCCGCCTACTCCTGAGC	0.413000														27			15		0	0	0.020292	0	0
PCYT1A	5130	broad.mit.edu	37	3	195974373	195974373	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:195974373G>A	uc003fwg.3	-	5	524	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PCYT1A_uc003fwh.3_Silent_p.L117L	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	117	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGTTGTGTGTGAGCTCATCAC	0.527000														246			73		0	0	0.014410	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075425	106075425	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:106075425C>T	uc001kyf.3	-	2	838	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ITPRIP_uc001kye.3_Missense_Mutation_p.A129T|ITPRIP_uc001kyg.3_Missense_Mutation_p.A129T|ITPRIP_uc021pxv.1_Missense_Mutation_p.A129T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	129						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAAGGGGGCGCCCCCCAGC	0.692000														154			71		0	0	0.014410	0	0
ABCG4	64137	broad.mit.edu	37	11	119027678	119027678	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:119027678G>T	uc001pvs.3	+	8	1358	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	ABCG4_uc009zar.3_Missense_Mutation_p.S341I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	341					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGAAGAGCAGCCCTGAGAAG	0.607000														266			105		1.92787e-56	2.31865e-56	0.014410	1	0
MAP3K14	9020	broad.mit.edu	37	17	43364549	43364549	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:43364549C>T	uc002iiw.1	-	3	617	c.508G>A	c.(508-510)Gag>Aag	p.E170K	MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	170					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCTCCTGCTCAGGGGTCCTG	0.617000														102			27		0	0	0.007291	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467607	35467607	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr21:35467607G>A	uc021wir.1	+	0	110	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC5A3_uc002yto.3_Missense_Mutation_p.S37N|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	37						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACCGTGAGTGGATACTTC	0.488000														42			14		0	0	0.028581	0	0
GABRG2	2566	broad.mit.edu	37	5	161576298	161576298	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:161576298A>T	uc010jjc.3	+	8	1585	c.1227A>T	c.(1225-1227)aaA>aaT	p.K409N	GABRG2_uc003lyy.4_Missense_Mutation_p.K369N|GABRG2_uc003lyz.4_Missense_Mutation_p.K369N|GABRG2_uc011dej.2_Missense_Mutation_p.K274N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCAAGGACAAAGATAAAAAGA	0.373000														30			8		0	0	0.003080	0	0
NXNL1	115861	broad.mit.edu	37	19	17571478	17571478	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:17571478T>G	uc002ngs.3	-	0	248	c.201A>C	c.(199-201)gtA>gtC	p.V67V		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	67	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CCGCCCGCAGTACATAGAACT	0.582000														279			12		0	0	0.013537	0	0
TBCK	93627	broad.mit.edu	37	4	107092373	107092373	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:107092373G>A	uc010ilv.2	-	22	2479	c.2114C>T	c.(2113-2115)cCt>cTt	p.P705L	TBCK_uc003hyb.2_Missense_Mutation_p.P448L|TBCK_uc003hye.2_Missense_Mutation_p.P666L|TBCK_uc003hyc.2_Missense_Mutation_p.P642L|TBCK_uc003hyd.2_Missense_Mutation_p.P533L|TBCK_uc003hyf.2_Missense_Mutation_p.P705L	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	705						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGCACTTTTAGGAGTCCAACA	0.398000														24			3		0	0	0.004672	0	0
ASGR1	432	broad.mit.edu	37	17	7081872	7081872	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:7081872T>G	uc002ges.4	-	1	411	c.11A>C	c.(10-12)gAg>gCg	p.E4A	ASGR1_uc021toy.1_Missense_Mutation_p.E4A|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	4					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTCTTGATACTCCTTGGTCAT	0.577000														102			93		0	0	0.014410	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														24			4		2.56e-06	2.77854e-06	0.009096	1	0
KIAA0664	23277	broad.mit.edu	37	17	2604434	2604434	+	Splice_Site	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:2604434C>T	uc002fuy.1	-	7	997	c.911_splice	c.e7+1	p.R304_splice	KIAA0664_uc002fux.1_Splice_Site_p.R236_splice	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	304							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AAGGCACTACCTTTTCTTCTG	0.602000														73			52		0	0	0.014410	0	0
EIF3G	8666	broad.mit.edu	37	19	10230530	10230530	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:10230530A>G	uc002mnd.3	-	0	70	c.6T>C	c.(4-6)ccT>ccC	p.P2P	EIF3G_uc010dxa.3_Silent_p.P2P|EIF3G_uc010xlb.2_Silent_p.P2P	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	2						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTCTCCAGTAGGCATCGCAA	0.642000											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		109			48		0	0	0.014410	0	0
ACE	1636	broad.mit.edu	37	17	61562641	61562641	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:61562641T>C	uc002jau.2	+	12	2000	c.1966T>C	c.(1966-1968)Tat>Cat	p.Y656H	ACE_uc010ddu.2_Missense_Mutation_p.Y473H|ACE_uc010wpj.2_Missense_Mutation_p.Y82H|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.Y82H|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	656	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGTGGAGGAATATGACCGGAC	0.552000														92			80		0	0	0.014410	0	0
FAM188A	80013	broad.mit.edu	37	10	15879212	15879212	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:15879212T>A	uc001iod.1	-	5	788	c.567A>T	c.(565-567)ttA>ttT	p.L189F	FAM188A_uc001ioe.1_Missense_Mutation_p.L16F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	189					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCTTTGTCAGTAATACAGAAT	0.353000														12			6		0	0	0.003080	0	0
TMC3	342125	broad.mit.edu	37	15	81648105	81648105	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr15:81648105G>A	uc021ssk.1	-	8	896	c.896C>T	c.(895-897)gCt>gTt	p.A299V	TMC3_uc021ssj.1_Missense_Mutation_p.A299V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A299V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	299						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCCAATATAGCTTCCTTTAA	0.284000														44			15		0	0	0.024245	0	0
FAM135A	57579	broad.mit.edu	37	6	71234676	71234676	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:71234676T>A	uc003pfj.3	+	12	2022	c.1889T>A	c.(1888-1890)aTg>aAg	p.M630K	FAM135A_uc003pfi.3_Missense_Mutation_p.M434K|FAM135A_uc003pfh.3_Missense_Mutation_p.M417K|FAM135A_uc003pfl.3_Missense_Mutation_p.M297K|FAM135A_uc003pfn.3_Missense_Mutation_p.M60K|FAM135A_uc003pfo.1_Missense_Mutation_p.M1K	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	630								p.S629S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTACACAAATGGAACACAAT	0.393000														10			11		0	0	0.016723	0	0
MNT	4335	broad.mit.edu	37	17	2298597	2298597	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:2298597T>G	uc002fur.3	-	1	477	c.225A>C	c.(223-225)gcA>gcC	p.A75A		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	75					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.A75A(2)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		gtggtgggggtgccggcgggg	0.682000														18			6		0	0	0.018920	0	0
ITGB5	3693	broad.mit.edu	37	3	124515614	124515614	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:124515614C>T	uc003eho.3	-	9	1611	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	438					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACACATGCTCCGTGTGTCTGC	0.612000														102			24		0	0	0.024334	0	0
SUSD2	56241	broad.mit.edu	37	22	24581140	24581140	+	Silent	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:24581140C>A	uc002zzn.1	+	5	905	c.861C>A	c.(859-861)gcC>gcA	p.A287A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	287	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACCCTGTGGCCTGGGCACGAA	0.662000														43			18		1.33834e-09	1.4784e-09	0.043863	1	0
WDR66	144406	broad.mit.edu	37	12	122413567	122413567	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr12:122413567T>C	uc009zxk.3	+	18	3141	c.2982T>C	c.(2980-2982)atT>atC	p.I994I		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	994							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGAGCAATTGGCTTTTACC	0.438000														81			46		0	0	0.045515	0	0
ARF5	381	broad.mit.edu	37	7	127229193	127229193	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:127229193A>G	uc003vmb.2	+	1	271	c.124A>G	c.(124-126)Att>Gtt	p.I42V	ARF5_uc010llb.2_Missense_Mutation_p.I42V|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	42					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GTTGGGGGAGATTGTCACCAC	0.632000											OREG0018287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		64			36		0	0	0.069456	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100657190	100657190	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr15:100657190C>T	uc002bvv.1	-	12	1829	c.1750G>A	c.(1750-1752)Ggt>Agt	p.G584S	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G341S	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	584	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACACTGGCACCCGGGCAGTGT	0.632000														24			16		0	0	0.028581	0	0
FRMD6	122786	broad.mit.edu	37	14	52182105	52182105	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:52182105G>T	uc001wzd.3	+	9	1197	c.912G>T	c.(910-912)acG>acT	p.T304T	FRMD6_uc001wzb.3_Silent_p.T296T|FRMD6_uc001wzc.3_Silent_p.T296T|FRMD6_uc001wze.3_Silent_p.T227T|FRMD6_uc001wzf.3_5'UTR|FRMD6_uc001wzg.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	304	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TATACTACACGGGGTGCCCCA	0.507000														126			13		1.61879e-10	1.83078e-10	0.093190	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955994	18955994	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:18955994A>T	uc001mpg.3	-	0	556	c.338T>A	c.(337-339)cTg>cAg	p.L113Q		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	113					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACGGCACTCAGAAAGCTCAG	0.542000														124			5		0	0	0.021553	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86921691	86921691	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:86921691A>G	uc003hpk.3	+	9	2512	c.2063A>G	c.(2062-2064)gAt>gGt	p.D688G	ARHGAP24_uc003hpl.3_Missense_Mutation_p.D593G|ARHGAP24_uc010ikf.3_Missense_Mutation_p.D603G|ARHGAP24_uc003hpm.3_Missense_Mutation_p.D595G	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	688					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGAACTGGATCAGGAGAGG	0.448000														63			46		0	0	0.045515	0	0
LRIG2	9860	broad.mit.edu	37	1	113616165	113616165	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:113616165C>A	uc001edf.1	+	0	335	c.137C>A	c.(136-138)cCc>cAc	p.P46H	LRIG2_uc009wgn.1_5'UTR|BC037540_uc001ede.1_5'Flank	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	46	LRRNT.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCCCCGCGCCCTGCTCCTGC	0.652000											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			48		1.98717e-13	2.27447e-13	0.048971	1	0
NEB	4703	broad.mit.edu	37	2	152484285	152484285	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:152484285C>A	uc021vrb.1	-	63	9195	c.9166G>T	c.(9166-9168)Gat>Tat	p.D3056Y	NEB_uc002txu.3_Missense_Mutation_p.D3299Y|NEB_uc021vrc.1_Missense_Mutation_p.D3299Y|NEB_uc010fnx.3_Missense_Mutation_p.D3044Y|NEB_uc021vrd.1_Missense_Mutation_p.D3056Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3056					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGGGTCATCTTCAATGTTC	0.453000														471			7		2.0095e-06	2.14497e-06	0.029380	1	0
ABCG4	64137	broad.mit.edu	37	11	119027678	119027678	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:119027678G>T	uc001pvs.3	+	8	1358	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	ABCG4_uc009zar.3_Missense_Mutation_p.S341I	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	341					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AAGAAGAGCAGCCCTGAGAAG	0.607000														125			62		7.59065e-32	8.90261e-32	0.048971	1	0
KIAA1429	25962	broad.mit.edu	37	8	95507107	95507107	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:95507107A>G	uc003ygo.2	-	19	4693	c.4622T>C	c.(4621-4623)aTa>aCa	p.I1541T	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1541					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ATCTGTATCTATCTCTTCAGC	0.318000														311			6		0	0	0.021553	0	0
RDH12	145226	broad.mit.edu	37	14	68191259	68191259	+	Silent	SNP	C	T	T	rs140371232		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:68191259C>T	uc001xjz.4	+	3	462	c.138C>T	c.(136-138)ggC>ggT	p.G46G		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	46					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	p.G46G(2)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TGATCACTGGCGCCAACACGG	0.542000														153			5		0	0	0.021553	0	0
AP4M1	9179	broad.mit.edu	37	7	99700326	99700326	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:99700326T>C	uc003utb.4	+	2	384	c.176T>C	c.(175-177)aTc>aCc	p.I59T	MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Missense_Mutation_p.I59T|AP4M1_uc010lgl.1_Missense_Mutation_p.I59T|AP4M1_uc003utd.3_Missense_Mutation_p.I59T|AP4M1_uc011kjh.2_Missense_Mutation_p.I11T|AP4M1_uc003ute.4_5'UTR|AP4M1_uc003utf.4_5'UTR	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	59					intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCATTCACATCAGACACAGC	0.527000														175			47		0	0	0.048971	0	0
TNFSF8	944	broad.mit.edu	37	9	117666220	117666220	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:117666220A>C	uc004bji.2	-	3	988	c.696T>G	c.(694-696)aaT>aaG	p.N232K	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	232					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCAGTCTGAATTACTGTATA	0.408000														165			72		0	0	0.048971	0	0
OR4C11	219429	broad.mit.edu	37	11	55371692	55371692	+	Missense_Mutation	SNP	A	T	T	rs151111921	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:55371692A>T	uc010rii.2	-	0	183	c.158T>A	c.(157-159)cTa>cAa	p.L53Q		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGGGCTTCCTAGTGTCCGGCT	0.398000														150			75		0	0	0.048971	0	0
BRE	9577	broad.mit.edu	37	2	28550286	28550286	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:28550286A>G	uc002rls.3	+	11	1486	c.1234A>G	c.(1234-1236)Aga>Gga	p.R412G	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					AGAGGGAGAGAGAACTGCTCA	0.478000														255			6		0	0	0.029380	0	0
TMEM37	140738	broad.mit.edu	37	2	120194829	120194829	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:120194829T>C	uc002tly.3	+	1	420	c.386T>C	c.(385-387)aTc>aCc	p.I129T		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	129						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGGGTTCCATCCTCCTCCTG	0.567000														291			105		0	0	0.048971	0	0
TTLL1	25809	broad.mit.edu	37	22	43442517	43442517	+	Silent	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:43442517C>G	uc003bdi.3	-	9	1282	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	TTLL1_uc010gzh.3_Silent_p.L318L|TTLL1_uc021wqt.1_Silent_p.L309L|TTLL1_uc003bdj.3_Silent_p.L233L	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	347	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TGTCATTAATCAGGTTGTACT	0.512000														254			11		0	0	0.093190	0	0
ABRA	137735	broad.mit.edu	37	8	107782408	107782408	+	Missense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:107782408C>A	uc003ymm.4	-	0	65	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	4					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCCTTTTCGCCCGGAGCCAT	0.597000														77			21		3.62473e-10	4.05117e-10	0.062417	1	0
IFT140	9742	broad.mit.edu	37	16	1608090	1608090	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:1608090G>T	uc002cmb.3	-	18	2607	c.2245C>A	c.(2245-2247)Cac>Aac	p.H749N	IFT140_uc002clz.3_Missense_Mutation_p.H400N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	749										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGAGGGATGTGGTGGCACCCA	0.552000														355			134		8.08879e-62	9.60544e-62	0.048971	1	0
LRRC33	375387	broad.mit.edu	37	3	196387840	196387840	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:196387840C>T	uc003fwv.3	+	2	1430	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	442						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CACTTTGTCCCCTGCCAGCTG	0.592000														222			164		0	0	0.048971	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956361	128956361	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:128956361A>G	uc003kvb.1	+	8	1511	c.1511A>G	c.(1510-1512)cAt>cGt	p.H504R	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	504	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATGGTCTTCATATCATGTCT	0.373000														241			10		0	0	0.069234	0	0
GRM2	2912	broad.mit.edu	37	3	51746862	51746862	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:51746862C>T	uc010hlv.3	+	2	1063	c.824C>T	c.(823-825)gCc>gTc	p.A275V	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	275					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TCTGAGGATGCCCGGGAGCTG	0.677000														94			4		0	0	0.009096	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000														133			4		0	0	0.058154	0	0
PFAS	5198	broad.mit.edu	37	17	8170542	8170542	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:8170542C>T	uc002gkr.3	+	23	3305	c.3164C>T	c.(3163-3165)cCc>cTc	p.P1055L	PFAS_uc010vuv.2_Missense_Mutation_p.P631L|PFAS_uc002gks.3_Missense_Mutation_p.P134L	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1055					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCCGTGCCCCGTGAGCCT	0.677000														26			12		0	0	0.080935	0	0
GOLT1A	127845	broad.mit.edu	37	1	204183026	204183026	+	Silent	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:204183026G>T	uc001has.1	-	0	195	c.9C>A	c.(7-9)tcC>tcA	p.S3S	GOLT1A_uc001hat.1_Silent_p.S3S	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	3					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			ATTCGGTGATGGAGATCATGC	0.642000														31			7		3.09899e-07	3.38395e-07	0.047766	1	0
SEMA5A	9037	broad.mit.edu	37	5	9226981	9226981	+	Splice_Site	SNP	C	T	T	rs141767878		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:9226981C>T	uc003jek.2	-	7	1144	c.432_splice	c.e7+1	p.S144_splice		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	144	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GAAGCCATACCGAGCGGTTGG	0.438000														89			5		0	0	0.021553	0	0
DAZAP1	26528	broad.mit.edu	37	19	1428875	1428875	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:1428875A>G	uc002lsn.3	+	7	770	c.581A>G	c.(580-582)aAg>aGg	p.K194R	DAZAP1_uc002lsm.3_Missense_Mutation_p.K194R	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	194					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGACAGCAAGAGCCAAGCG	0.657000														50			18		0	0	0.069288	0	0
EEF2	1938	broad.mit.edu	37	19	3979985	3979985	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:3979985C>T	uc002lze.3	-	9	1509	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	476						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAACTGGTCCACGCCCACG	0.592000														47			17		0	0	0.055883	0	0
MRPL13	28998	broad.mit.edu	37	8	121455496	121455496	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:121455496G>A	uc003ypa.3	-	1	393	c.80C>T	c.(79-81)cCa>cTa	p.P27L	MTBP_uc003ypc.1_5'Flank|MRPL13_uc010mdf.3_Non-coding_Transcript|MTBP_uc003ypb.1_5'Flank|MTBP_uc011lie.1_5'Flank	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	27					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	p.Q26R(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTGCCAGGTGGCTGCATTTT	0.373000														115			55		0	0	0.048971	0	0
VPS4B	9525	broad.mit.edu	37	18	61058289	61058289	+	Silent	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr18:61058289T>C	uc002lix.3	-	10	1514	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	418					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGTGTTAGATAGTGACCGCA	0.348000														103			16		0	0	0.028581	0	0
ATP1B1	481	broad.mit.edu	37	1	169096584	169096584	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:169096584T>C	uc001gfr.1	+	3	626	c.505T>C	c.(505-507)Tac>Cac	p.Y169H		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	169					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AACTTATGGCTACAAAGAGGG	0.388000														95			49		0	0	0.048971	0	0
UGT2B7	7364	broad.mit.edu	37	4	69978199	69978199	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:69978199A>G	uc003heg.4	+	5	1381	c.1335A>G	c.(1333-1335)ttA>ttG	p.L445L	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	445					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTATGAAATTATCAAGAATTC	0.393000														167			59		0	0	0.048971	0	0
CYHR1	50626	broad.mit.edu	37	8	145690192	145690192	+	Splice_Site	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr8:145690192C>G	uc003zcv.2	-	1	288	c.93_splice	c.e1+1	p.E31_splice	CYHR1_uc003zcw.2_Splice_Site_p.E31_splice|CYHR1_uc003zcx.2_Splice_Site_p.E31_splice|CYHR1_uc003zcy.2_Splice_Site_p.E31_splice|KIFC2_uc003zcz.3_5'Flank	NM_138496	NP_612505	Q6ZMK1	CYHR1_HUMAN	Homo sapiens cysteine/histidine-rich 1 (CYHR1), transcript variant 1, mRNA.	31						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	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)			GTGTACTCACCTCGGCTGTGC	0.627000														26			12		0	0	0.033300	0	0
JAG2	3714	broad.mit.edu	37	14	105622266	105622266	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:105622266T>C	uc001yqg.3	-	3	940	c.536A>G	c.(535-537)aAg>aGg	p.K179R	JAG2_uc001yqh.3_Missense_Mutation_p.K179R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	179					Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCAGGCTCTTCCAGCGGTC	0.632000														33			10		0	0	0.093190	0	0
DST	667	broad.mit.edu	37	6	56499603	56499603	+	Missense_Mutation	SNP	A	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:56499603A>C	uc003pcy.4	-	10	1832	c.1724T>G	c.(1723-1725)aTt>aGt	p.I575S	DST_uc021zay.1_Missense_Mutation_p.I941S|DST_uc021zax.1_Missense_Mutation_p.I575S|DST_uc003pdc.4_Missense_Mutation_p.I575S|DST_uc003pdd.4_Missense_Mutation_p.I575S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	901					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGTACCTCAATTTGTCTGTA	0.358000														200			97		0	0	0.048971	0	0
BCKDHA	593	broad.mit.edu	37	19	41928188	41928188	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:41928188C>G	uc002oqq.3	+	5	805	c.766C>G	c.(766-768)Ctt>Gtt	p.L256V	BCKDHA_uc002oqm.4_Missense_Mutation_p.L290V|BCKDHA_uc002oqp.2_Missense_Mutation_p.L148V|BCKDHA_uc002oqr.3_Missense_Mutation_p.L256V|BCKDHA_uc010xvz.2_Missense_Mutation_p.L234V	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGCTGCCACACTTGAGTGCCC	0.612000														96			26		0	0	0.069456	0	0
ANKFY1	51479	broad.mit.edu	37	17	4084580	4084580	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:4084580T>C	uc002fxn.3	-	15	2452	c.2335A>G	c.(2335-2337)Aac>Gac	p.N779D	ANKFY1_uc002fxo.3_Missense_Mutation_p.N738D|ANKFY1_uc002fxp.3_Missense_Mutation_p.N736D|ANKFY1_uc010ckp.3_Missense_Mutation_p.N679D|ANKFY1_uc002fxq.1_Missense_Mutation_p.N737D	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	737						endosome membrane	metal ion binding|protein binding	p.A779V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTGGGCTCGTTGTTTTCATCA	0.522000														185			6		0	0	0.029380	0	0
EIF3G	8666	broad.mit.edu	37	19	10230530	10230530	+	Silent	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:10230530A>G	uc002mnd.3	-	0	70	c.6T>C	c.(4-6)ccT>ccC	p.P2P	EIF3G_uc010dxa.3_Silent_p.P2P|EIF3G_uc010xlb.2_Silent_p.P2P	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	2						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTCTCCAGTAGGCATCGCAA	0.642000											OREG0025231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		61			23		0	0	0.076483	0	0
GRHL1	29841	broad.mit.edu	37	2	10101557	10101557	+	Missense_Mutation	SNP	G	A	A	rs140278187		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:10101557G>A	uc002raa.3	+	3	832	c.661G>A	c.(661-663)Gtt>Att	p.V221I	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.A57A|GRHL1_uc010yjb.2_Missense_Mutation_p.V70I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	221					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CAAGGAAGGCGTTCAGGAGGT	0.463000														108			47		0	0	0.048971	0	0
ATP1A1	476	broad.mit.edu	37	1	116941400	116941400	+	Missense_Mutation	SNP	G	C	C	rs11540954		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:116941400G>C	uc001ege.3	+	15	2621	c.2282G>C	c.(2281-2283)gGa>gCa	p.G761A	ATP1A1_uc010owv.1_Missense_Mutation_p.G730A|ATP1A1_uc010oww.2_Missense_Mutation_p.G761A|ATP1A1_uc010owx.2_Missense_Mutation_p.G730A|ATP1A1OS_uc009whb.2_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	761					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	ATTGTGACTGGAGTAGAGGAA	0.438000														108			50		0	0	0.048971	0	0
ZNF627	199692	broad.mit.edu	37	19	11728624	11728624	+	Missense_Mutation	SNP	G	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:11728624G>T	uc002msk.2	+	3	1514	c.1306G>T	c.(1306-1308)Gta>Tta	p.V436L		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R435Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TTACTTTCGAGTACATGAAAA	0.423000														102			36		1.836e-18	2.12708e-18	0.064281	1	0
KCNH7	90134	broad.mit.edu	37	2	163241347	163241347	+	Missense_Mutation	SNP	A	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr2:163241347A>G	uc002uch.2	-	12	3042	c.2813T>C	c.(2812-2814)aTc>aCc	p.I938T		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	938					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGGAGGAGATGAAAGATGA	0.408000														273			117		0	0	0.048971	0	0
KRBA1	84626	broad.mit.edu	37	7	149422542	149422542	+	Missense_Mutation	SNP	G	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:149422542G>C	uc003wfz.3	+	9	1662	c.1263G>C	c.(1261-1263)caG>caC	p.Q421H	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Missense_Mutation_p.Q89H	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	421										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTCTCAGAAGCCTGAAC	0.597000														37			3		0	0	0.009096	0	0
CLOCK	9575	broad.mit.edu	37	4	56301654	56301654	+	Silent	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:56301654A>T	uc003haz.1	-	23	3395	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	CLOCK_uc003hba.1_Silent_p.S823S|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	823	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GCTGTTGCTGAGACTGATGTT	0.527000														113			50		0	0	0.048971	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117396642	117396642	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:117396642G>A	uc003vjf.3	-	11	3407	c.3315C>T	c.(3313-3315)atC>atT	p.I1105I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1105										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TCTGGAGAGGGATCATGGAGG	0.498000														194			7		0	0	0.047766	0	0
RBBP6	5930	broad.mit.edu	37	16	24551952	24551952	+	Missense_Mutation	SNP	C	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:24551952C>G	uc002dmh.3	+	0	1045	c.5C>G	c.(4-6)tCc>tGc	p.S2C	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Missense_Mutation_p.S2C|RBBP6_uc002dmi.3_Missense_Mutation_p.S2C|RBBP6_uc010bxr.3_Missense_Mutation_p.S2C|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	2					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGCACCATGTCCTGTGTGCAT	0.408000														191			6		0	0	0.021553	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364734	117364734	+	Silent	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr7:117364734T>A	uc003vjf.3	-	18	4406	c.4314A>T	c.(4312-4314)atA>atT	p.I1438I		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1438								p.S1437S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACTGGAAACTATGGATAAAG	0.438000														113			46		0	0	0.048971	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														63			6		0	0	0.047766	0	0
TNKS2	80351	broad.mit.edu	37	10	93593686	93593686	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:93593686T>C	uc001khp.3	+	11	1649	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P	Mir_584_uc021pwf.1_5'Flank	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	451					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.R450H(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ACCTGCCGCCTACTCCTGAGC	0.413000														150			73		0	0	0.048971	0	0
PCYT1A	5130	broad.mit.edu	37	3	195974373	195974373	+	Silent	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:195974373G>A	uc003fwg.3	-	5	524	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PCYT1A_uc003fwh.3_Silent_p.L117L	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	117	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AGTTGTGTGTGAGCTCATCAC	0.527000														149			53		0	0	0.048971	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075425	106075425	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:106075425C>T	uc001kyf.3	-	2	838	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	ITPRIP_uc001kye.3_Missense_Mutation_p.A129T|ITPRIP_uc001kyg.3_Missense_Mutation_p.A129T|ITPRIP_uc021pxv.1_Missense_Mutation_p.A129T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	129						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCAAGGGGGCGCCCCCCAGC	0.692000														81			65		0	0	0.048971	0	0
BMPR1B	658	broad.mit.edu	37	4	96025660	96025660	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr4:96025660G>A	uc003htm.4	+	3	359	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	BMPR1B_uc010ilb.3_Missense_Mutation_p.V29I|BMPR1B_uc003htn.4_Missense_Mutation_p.V29I	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	29					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CCGTCCAAAGGTCTTGCGTTG	0.423000														100			47		0	0	0.048971	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364549	43364549	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:43364549C>T	uc002iiw.1	-	3	617	c.508G>A	c.(508-510)Gag>Aag	p.E170K	MAP3K14_uc010daj.1_5'Flank|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	170					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTCTCCTGCTCAGGGGTCCTG	0.617000														61			19		0	0	0.043863	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467607	35467607	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr21:35467607G>A	uc021wir.1	+	0	110	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC5A3_uc002yto.3_Missense_Mutation_p.S37N|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	37						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACCGTGAGTGGATACTTC	0.488000														142			89		0	0	0.048971	0	0
GABRG2	2566	broad.mit.edu	37	5	161576298	161576298	+	Missense_Mutation	SNP	A	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:161576298A>T	uc010jjc.3	+	8	1585	c.1227A>T	c.(1225-1227)aaA>aaT	p.K409N	GABRG2_uc003lyy.4_Missense_Mutation_p.K369N|GABRG2_uc003lyz.4_Missense_Mutation_p.K369N|GABRG2_uc011dej.2_Missense_Mutation_p.K274N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	369					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GCAAGGACAAAGATAAAAAGA	0.373000														102			51		0	0	0.048971	0	0
NXNL1	115861	broad.mit.edu	37	19	17571478	17571478	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:17571478T>G	uc002ngs.3	-	0	248	c.201A>C	c.(199-201)gtA>gtC	p.V67V		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	67	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						CCGCCCGCAGTACATAGAACT	0.582000														137			4		0	0	0.009096	0	0
VARS	7407	broad.mit.edu	37	6	31753451	31753451	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:31753451G>A	uc003nxe.3	-	8	1583	c.1160C>T	c.(1159-1161)gCc>gTc	p.A387V	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	387					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACCTGGGTGGCAATACCTGC	0.632000														122			4		0	0	0.009096	0	0
FREM1	158326	broad.mit.edu	37	9	14824065	14824065	+	Silent	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:14824065T>G	uc003zlm.3	-	12	2943	c.2127A>C	c.(2125-2127)gtA>gtC	p.V709V	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	709					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GATTCTTAACTACTTTTGGTA	0.408000														17			5		0	0	0.014758	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400799	195400799	+	Missense_Mutation	SNP	G	A	A	rs7635172	by1000genomes	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:195400799G>A	uc003fuw.3	+	8	1289	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CAAACTCGCTGTTGGACCTGG	0.597000														80			4		0	0	0.047766	0	0
ASGR1	432	broad.mit.edu	37	17	7081872	7081872	+	Missense_Mutation	SNP	T	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:7081872T>G	uc002ges.4	-	1	411	c.11A>C	c.(10-12)gAg>gCg	p.E4A	ASGR1_uc021toy.1_Missense_Mutation_p.E4A|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	4					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTCTTGATACTCCTTGGTCAT	0.577000														56			47		0	0	0.042209	0	0
KIAA0664	23277	broad.mit.edu	37	17	2604434	2604434	+	Splice_Site	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:2604434C>T	uc002fuy.1	-	7	997	c.911_splice	c.e7+1	p.R304_splice	KIAA0664_uc002fux.1_Splice_Site_p.R236_splice	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	304							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AAGGCACTACCTTTTCTTCTG	0.602000														29			33		0	0	0.059317	0	0
ITGB5	3693	broad.mit.edu	37	3	124515613	124515613	+	Nonsense_Mutation	SNP	C	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:124515613C>A	uc003eho.3	-	9	1612	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	439					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.E439A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AACACATGCTCCGTGTGTCTG	0.612000														55			19		0.000958276	0.0010004	0.043863	1	0
ACE	1636	broad.mit.edu	37	17	61562641	61562641	+	Missense_Mutation	SNP	T	C	C			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:61562641T>C	uc002jau.2	+	12	2000	c.1966T>C	c.(1966-1968)Tat>Cat	p.Y656H	ACE_uc010ddu.2_Missense_Mutation_p.Y473H|ACE_uc010wpj.2_Missense_Mutation_p.Y82H|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.Y82H|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	656	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGTGGAGGAATATGACCGGAC	0.552000														47			46		0	0	0.048971	0	0
FAM188A	80013	broad.mit.edu	37	10	15879212	15879212	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr10:15879212T>A	uc001iod.1	-	5	788	c.567A>T	c.(565-567)ttA>ttT	p.L189F	FAM188A_uc001ioe.1_Missense_Mutation_p.L16F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	189					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						CCTTTGTCAGTAATACAGAAT	0.353000														173			76		0	0	0.048971	0	0
TMC3	342125	broad.mit.edu	37	15	81648105	81648105	+	Missense_Mutation	SNP	G	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr15:81648105G>A	uc021ssk.1	-	8	896	c.896C>T	c.(895-897)gCt>gTt	p.A299V	TMC3_uc021ssj.1_Missense_Mutation_p.A299V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A299V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	299						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TTCCAATATAGCTTCCTTTAA	0.284000														64			30		0	0	0.045705	0	0
FAM135A	57579	broad.mit.edu	37	6	71234676	71234676	+	Missense_Mutation	SNP	T	A	A			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:71234676T>A	uc003pfj.3	+	12	2022	c.1889T>A	c.(1888-1890)aTg>aAg	p.M630K	FAM135A_uc003pfi.3_Missense_Mutation_p.M434K|FAM135A_uc003pfh.3_Missense_Mutation_p.M417K|FAM135A_uc003pfl.3_Missense_Mutation_p.M297K|FAM135A_uc003pfn.3_Missense_Mutation_p.M60K|FAM135A_uc003pfo.1_Missense_Mutation_p.M1K	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	630								p.S629S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATTACACAAATGGAACACAAT	0.393000														69			47		0	0	0.048971	0	0
TOR1A	1861	broad.mit.edu	37	9	132584984	132584984	+	Missense_Mutation	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:132584984C>T	uc004byl.3	-	1	397	c.320G>A	c.(319-321)gGc>gAc	p.G107D	TOR1A_uc004byn.3_Missense_Mutation_p.G107D	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	107					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding	p.G107D(8)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				GAAATTTTTGCCGGTGCCTGT	0.468000														352			6		0	0	0.029380	0	0
ITGB5	3693	broad.mit.edu	37	3	124515614	124515614	+	Silent	SNP	C	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr3:124515614C>T	uc003eho.3	-	9	1611	c.1314G>A	c.(1312-1314)acG>acA	p.T438T	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	438					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		ACACATGCTCCGTGTGTCTGC	0.612000														55			20		0	0	0.049695	0	0
UBXN11	91544	broad.mit.edu	37	1	26608820	26608843	+	In_Frame_Del	DEL	GGGACTGGGGCCGGGACCGGGACC	-	-	rs66614970	by1000genomes	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	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													---	148	---	---	12	---					
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169698749delT	uc001ggm.4	-	5	938	c.781delA	c.(781-783)agcfs	p.S261fs	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	261	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S261G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGGGAAGCTTCCAGGGTTT	0.448													---	53	---	---	20	---					
CEP350	9857	broad.mit.edu	37	1	179965912	179965912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:179965912delA	uc001gnt.3	+	5	1003	c.620delA	c.(619-621)caafs	p.Q207fs	CEP350_uc001gnr.1_Frame_Shift_Del_p.Q181fs|CEP350_uc009wxl.2_Frame_Shift_Del_p.Q206fs|CEP350_uc001gnu.3_Frame_Shift_Del_p.Q41fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	207						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGCATTGCAAAATTCTGAA	0.378													---	32	---	---	10	---					
ELF3	1999	broad.mit.edu	37	1	201981806	201981814	+	In_Frame_Del	DEL	GGTCAGCAA	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:201981806_201981814delGGTCAGCAA	uc001gxg.4	+	3	3709_3717	c.517_525delGGTCAGCAA	c.(517-525)ggtcagcaadel	p.GQQ173del	ELF3_uc001gxi.4_In_Frame_Del_p.GQQ173del|ELF3_uc001gxh.4_In_Frame_Del_p.GQQ173del	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	173					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGGACGACGGTCAGCAAGCCAGCCCCT	0.660													---	148	---	---	29	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	-	-	rs146316187		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr3:10088407_10088410delAGTA	uc003buw.3	+	15	1356	c.1278_splice	c.e15+1	p.L426_splice	FANCD2_uc003bux.1_Splice_Site_p.L426_splice|FANCD2_uc003buy.1_Splice_Site_p.L426_splice|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				---	119	---	---	16	---					
CRIPAK	285464	broad.mit.edu	37	4	1389147	1389148	+	Frame_Shift_Del	DEL	AT	-	-	rs71299249	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr4:1389147_1389148delAT	uc003gdf.2	+	0	3808_3809	c.848_849delAT	c.(847-849)catfs	p.H283fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	283					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCTCACATGTGCCGATGT	0.683													---	624	---	---	10	---					
POLR2J	5439	broad.mit.edu	37	7	102119254	102119256	+	Splice_Site	DEL	CTT	-	-	rs141678884		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr7:102119254_102119256delCTT	uc003uzp.1	-	1	127	c.53_splice	c.e1+1	p.K18_splice		NM_006234	NP_006225	P52435	RPB11_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa (POLR2J), mRNA.	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity	p.?(1)		pancreas(2)	2						GCGTCACTTACTTCTTCTCGCCC	0.685											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	92	---	---	8	---					
PRB2	653247	broad.mit.edu	37	12	11545949	11545951	+	In_Frame_Del	DEL	TGC	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	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													---	2703	---	---	8	---					
FAM71D	161142	broad.mit.edu	37	14	67671485	67671486	+	Frame_Shift_Ins	INS	-	T	T	rs66658912	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:67671485_67671486insT	uc001xja.2	+	4	881_882	c.591_592insT	c.(589-594)acagacfs	p.T197fs	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	197										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CGAATAGCACAGACATCACAGG	0.505													---	62	---	---	8	---					
ANGEL1	23357	broad.mit.edu	37	14	77274402	77274411	+	Frame_Shift_Del	DEL	GAGTGAACTG	-	-	rs138394702	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:77274402_77274411delGAGTGAACTG	uc001xsv.3	-	2	843_852	c.730_739delCAGTTCACTC	c.(730-741)cagttcactctgfs	p.Q244fs		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	244										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAAGACATCAGAGTGAACTGGAACTGAGGG	0.505													---	87	---	---	12	---					
abParts	0	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	-	-	rs113800876		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:106877817_106877819delACT	uc021ser.1	-	409		c.13106_13108delAGT								Parts of antibodies, mostly variable regions.																		CCCAGTAGTAACTACTACTGCTG	0.596													---	107	---	---	30	---					
PIPOX	51268	broad.mit.edu	37	17	27370356	27370357	+	Splice_Site	INS	-	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:27370356_27370357insG	uc002hdr.1	+	1	440	c.114_splice	c.e1+1	p.Q38_splice		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	38					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGCTGGAGCAGGTACTGTGTC	0.584													---	112	---	---	64	---					
TBX21	30009	broad.mit.edu	37	17	45822284	45822285	+	Frame_Shift_Ins	INS	-	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:45822284_45822285insG	uc002ilv.1	+	5	1371_1372	c.1160_1161insG	c.(1159-1161)ctgfs	p.L387fs		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	387					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTACTGGCTGGGGGCCCCCC	0.614													---	526	---	---	8	---					
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	TG	TG	rs142406301	by1000genomes	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:73626918_73626919insTG	uc010dgl.3	-	12	1795	c.1586_splice	c.e12-1	p.D529_splice	RECQL5_uc010dgk.3_Splice_Site_p.D502_splice|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	529					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function					---	13	---	---	20	---					
FBN3	84467	broad.mit.edu	37	19	8182139	8182139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:8182139delT	uc002mjf.3	-	26	3517	c.3500delA	c.(3499-3501)gacfs	p.D1167fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1167	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGTGCACGTCACACCCACC	0.637													---	74	---	---	30	---					
SIRT2	22933	broad.mit.edu	37	19	39380603	39380604	+	Splice_Site	INS	-	A	A			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:39380603_39380604insA	uc002ojt.2	-	6	610	c.269_splice	c.e6-1	p.S90_splice	SIRT2_uc010egi.2_Splice_Site_p.S53_splice|SIRT2_uc002ojs.2_Splice_Site_p.S70_splice|SIRT2_uc002oju.2_Splice_Site_p.S53_splice|SIRT2_uc010egh.2_Splice_Site_p.S53_splice|SIRT2_uc002ojv.2_Intron	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	90	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TGCCTGCGGCTAGGAAAGGGGG	0.584													---	197	---	---	10	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38483189	38483190	+	In_Frame_Ins	INS	-	GGTCATGGA	GGTCATGGA	rs71803583		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:38483189_38483190insGGTCATGGA	uc003auw.3	-	10	1344_1345	c.1200_1201insTCCATGACC	c.(1198-1203)insTCCATGACC	p.403_404insSMT	BAIAP2L2_uc003auv.3_5'Flank	NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	403					filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658													---	85	---	---	20	---					
EP300	2033	broad.mit.edu	37	22	41574679	41574681	+	In_Frame_Del	DEL	CCC	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:41574679_41574681delCCC	uc003azl.4	+	30	7359_7361	c.6964_6966delCCC	c.(6964-6966)cccdel	p.P2323del		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2323					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	p.P2323P(1)		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						ACAGTCCCAGCCCCCCCACTCCA	0.616			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				---	222	---	---	59	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	-	-	rs6614551		TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chrX:50350711_50350713delTCC	uc004dpe.2	-	5	3455_3457	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1143	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													---	25	---	---	9	---					
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:169698749delT	uc001ggm.4	-	5	938	c.781delA	c.(781-783)agcfs	p.S261fs	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	261	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S261G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGGGAAGCTTCCAGGGTTT	0.448													---	154	---	---	97	---					
CEP350	9857	broad.mit.edu	37	1	179965912	179965912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:179965912delA	uc001gnt.3	+	5	1003	c.620delA	c.(619-621)caafs	p.Q207fs	CEP350_uc001gnr.1_Frame_Shift_Del_p.Q181fs|CEP350_uc009wxl.2_Frame_Shift_Del_p.Q206fs|CEP350_uc001gnu.3_Frame_Shift_Del_p.Q41fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	207						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGCATTGCAAAATTCTGAA	0.378													---	45	---	---	12	---					
ELF3	1999	broad.mit.edu	37	1	201981806	201981814	+	In_Frame_Del	DEL	GGTCAGCAA	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr1:201981806_201981814delGGTCAGCAA	uc001gxg.4	+	3	3709_3717	c.517_525delGGTCAGCAA	c.(517-525)ggtcagcaadel	p.GQQ173del	ELF3_uc001gxi.4_In_Frame_Del_p.GQQ173del|ELF3_uc001gxh.4_In_Frame_Del_p.GQQ173del	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	173					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGGACGACGGTCAGCAAGCCAGCCCCT	0.660													---	65	---	---	9	---					
ANGEL1	23357	broad.mit.edu	37	14	77274402	77274411	+	Frame_Shift_Del	DEL	GAGTGAACTG	-	-	rs138394702	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr14:77274402_77274411delGAGTGAACTG	uc001xsv.3	-	2	843_852	c.730_739delCAGTTCACTC	c.(730-741)cagttcactctgfs	p.Q244fs		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	244										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAAGACATCAGAGTGAACTGGAACTGAGGG	0.505													---	96	---	---	26	---					
PIPOX	51268	broad.mit.edu	37	17	27370356	27370357	+	Splice_Site	INS	-	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr17:27370356_27370357insG	uc002hdr.1	+	1	440	c.114_splice	c.e1+1	p.Q38_splice		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	38					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGCTGGAGCAGGTACTGTGTC	0.584													---	77	---	---	78	---					
FBN3	84467	broad.mit.edu	37	19	8182139	8182139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr19:8182139delT	uc002mjf.3	-	26	3517	c.3500delA	c.(3499-3501)gacfs	p.D1167fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1167	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGTGCACGTCACACCCACC	0.637													---	48	---	---	14	---					
EP300	2033	broad.mit.edu	37	22	41574679	41574681	+	In_Frame_Del	DEL	CCC	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-10A-01D-1458-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	3fbd8531-47c5-4f07-9928-0b4e7cd5aad5	g.chr22:41574679_41574681delCCC	uc003azl.4	+	30	7359_7361	c.6964_6966delCCC	c.(6964-6966)cccdel	p.P2323del		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2323					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	p.P2323P(1)		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						ACAGTCCCAGCCCCCCCACTCCA	0.616			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				---	108	---	---	38	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													---	815	---	---	14	---					
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:169698749delT	uc001ggm.4	-	5	938	c.781delA	c.(781-783)agcfs	p.S261fs	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	261	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S261G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGGGAAGCTTCCAGGGTTT	0.448													---	53	---	---	20	---					
CEP350	9857	broad.mit.edu	37	1	179965912	179965912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:179965912delA	uc001gnt.3	+	5	1003	c.620delA	c.(619-621)caafs	p.Q207fs	CEP350_uc001gnr.1_Frame_Shift_Del_p.Q181fs|CEP350_uc009wxl.2_Frame_Shift_Del_p.Q206fs|CEP350_uc001gnu.3_Frame_Shift_Del_p.Q41fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	207						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGCATTGCAAAATTCTGAA	0.378													---	32	---	---	10	---					
ELF3	1999	broad.mit.edu	37	1	201981806	201981814	+	In_Frame_Del	DEL	GGTCAGCAA	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:201981806_201981814delGGTCAGCAA	uc001gxg.4	+	3	3709_3717	c.517_525delGGTCAGCAA	c.(517-525)ggtcagcaadel	p.GQQ173del	ELF3_uc001gxi.4_In_Frame_Del_p.GQQ173del|ELF3_uc001gxh.4_In_Frame_Del_p.GQQ173del	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	173					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGGACGACGGTCAGCAAGCCAGCCCCT	0.660													---	148	---	---	29	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr5:149216400_149216402delCAG	uc003lrc.3	+	7	2473_2475	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.S799del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.S760del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.S735del|PPARGC1B_uc003lre.1_In_Frame_Del_p.S778del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.S778del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	799	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601													---	409	---	---	9	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr6:146350671_146350672insT	uc010khw.1	+	1	488_489	c.18_19insT	c.(16-21)ttgtttfs	p.L6fs	GRM1_uc010khu.1_Frame_Shift_Ins_p.L6fs|GRM1_uc010khv.1_Frame_Shift_Ins_p.L6fs|GRM1_uc003qll.2_Frame_Shift_Ins_p.L6fs|GRM1_uc011edz.1_Frame_Shift_Ins_p.L6fs|GRM1_uc011eea.1_Frame_Shift_Ins_p.L6fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													---	625	---	---	12	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr9:133759490_133759492delAAG	uc004bzw.3	+	10	1816_1818	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del	ABL1_uc004bzv.3_In_Frame_Del_p.K628del	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	609	Poly-Lys.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								---	459	---	---	8	---					
ANGEL1	23357	broad.mit.edu	37	14	77274402	77274411	+	Frame_Shift_Del	DEL	GAGTGAACTG	-	-	rs138394702	byFrequency	TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:77274402_77274411delGAGTGAACTG	uc001xsv.3	-	2	843_852	c.730_739delCAGTTCACTC	c.(730-741)cagttcactctgfs	p.Q244fs		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	244										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAAGACATCAGAGTGAACTGGAACTGAGGG	0.505													---	87	---	---	12	---					
PIPOX	51268	broad.mit.edu	37	17	27370356	27370357	+	Splice_Site	INS	-	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:27370356_27370357insG	uc002hdr.1	+	1	440	c.114_splice	c.e1+1	p.Q38_splice		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	38					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGCTGGAGCAGGTACTGTGTC	0.584													---	112	---	---	64	---					
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	G	G			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569													---	691	---	---	10	---					
FBN3	84467	broad.mit.edu	37	19	8182139	8182139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:8182139delT	uc002mjf.3	-	26	3517	c.3500delA	c.(3499-3501)gacfs	p.D1167fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1167	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGTGCACGTCACACCCACC	0.637													---	74	---	---	30	---					
EP300	2033	broad.mit.edu	37	22	41574679	41574681	+	In_Frame_Del	DEL	CCC	-	-			TCGA-B3-4103-01A-01D-1252-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1343345-8cf7-43dc-8ccc-d366af6902c3	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:41574679_41574681delCCC	uc003azl.4	+	30	7359_7361	c.6964_6966delCCC	c.(6964-6966)cccdel	p.P2323del		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2323					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	p.P2323P(1)		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						ACAGTCCCAGCCCCCCCACTCCA	0.616			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				---	222	---	---	59	---					
SELE	6401	broad.mit.edu	37	1	169698749	169698749	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:169698749delT	uc001ggm.4	-	5	938	c.781delA	c.(781-783)agcfs	p.S261fs	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	261	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.S261G(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CATGGGAAGCTTCCAGGGTTT	0.448													---	154	---	---	97	---					
CEP350	9857	broad.mit.edu	37	1	179965912	179965912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:179965912delA	uc001gnt.3	+	5	1003	c.620delA	c.(619-621)caafs	p.Q207fs	CEP350_uc001gnr.1_Frame_Shift_Del_p.Q181fs|CEP350_uc009wxl.2_Frame_Shift_Del_p.Q206fs|CEP350_uc001gnu.3_Frame_Shift_Del_p.Q41fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	207						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGCATTGCAAAATTCTGAA	0.378													---	45	---	---	12	---					
ELF3	1999	broad.mit.edu	37	1	201981806	201981814	+	In_Frame_Del	DEL	GGTCAGCAA	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr1:201981806_201981814delGGTCAGCAA	uc001gxg.4	+	3	3709_3717	c.517_525delGGTCAGCAA	c.(517-525)ggtcagcaadel	p.GQQ173del	ELF3_uc001gxi.4_In_Frame_Del_p.GQQ173del|ELF3_uc001gxh.4_In_Frame_Del_p.GQQ173del	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	173					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GCTGGACGACGGTCAGCAAGCCAGCCCCT	0.660													---	65	---	---	9	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	10	---	---	12	---					
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	T	T			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr13:79918806_79918807insT	uc001vkz.2	-	14	2201_2202	c.2187_2188insA	c.(2185-2190)aaacagfs	p.K729fs	RBM26_uc001vky.2_Frame_Shift_Ins_p.K700fs|RBM26_uc001vla.2_Frame_Shift_Ins_p.K703fs|RBM26_uc001vkx.2_Frame_Shift_Ins_p.K439fs|RBM26_uc010tia.2_Frame_Shift_Ins_p.K84fs	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	727					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332													---	131	---	---	7	---					
ANGEL1	23357	broad.mit.edu	37	14	77274402	77274411	+	Frame_Shift_Del	DEL	GAGTGAACTG	-	-	rs138394702	byFrequency	TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr14:77274402_77274411delGAGTGAACTG	uc001xsv.3	-	2	843_852	c.730_739delCAGTTCACTC	c.(730-741)cagttcactctgfs	p.Q244fs		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	244										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TAAGACATCAGAGTGAACTGGAACTGAGGG	0.505													---	96	---	---	26	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	800	---	---	22	---					
PIPOX	51268	broad.mit.edu	37	17	27370356	27370357	+	Splice_Site	INS	-	G	G			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr17:27370356_27370357insG	uc002hdr.1	+	1	440	c.114_splice	c.e1+1	p.Q38_splice		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	38					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CTGCTGGAGCAGGTACTGTGTC	0.584													---	77	---	---	78	---					
FBN3	84467	broad.mit.edu	37	19	8182139	8182139	+	Frame_Shift_Del	DEL	T	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr19:8182139delT	uc002mjf.3	-	26	3517	c.3500delA	c.(3499-3501)gacfs	p.D1167fs		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1167	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACAGTGCACGTCACACCCACC	0.637													---	48	---	---	14	---					
EP300	2033	broad.mit.edu	37	22	41574679	41574681	+	In_Frame_Del	DEL	CCC	-	-			TCGA-B3-4103-01A-01D-1458-08	TCGA-B3-4103-11A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62fba643-8f61-4d98-afe1-fbfeca74cdfa	91db34b0-ab14-4cd0-89df-51a96ea4161d	g.chr22:41574679_41574681delCCC	uc003azl.4	+	30	7359_7361	c.6964_6966delCCC	c.(6964-6966)cccdel	p.P2323del		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2323					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	p.P2323P(1)		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						ACAGTCCCAGCCCCCCCACTCCA	0.616			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				---	108	---	---	38	---					
