Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
WDFY1	57590	broad.mit.edu	37	2	224760257	224760257	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:224760257C>T	ENST00000233055.4	-	7	791	c.689G>A	c.(688-690)gGa>gAa	p.G230E		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	230						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GCCTTTCCTTCCTCCGATGTC	0.542000													46	44					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150647133	150647133	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:150647133G>A	ENST00000430723.3	-	9	2533	c.2521C>T	c.(2521-2523)Cct>Tct	p.P841S	KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron	NM_172056.2	NP_742053.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	0					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.P841S(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGAATTAAAGGAGCCCAGTGA	0.597000													22	10					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739333	38739333	+	Missense_Mutation	SNP	A	A	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:38739333A>C	ENST00000449082.2	-	27	5377	c.5378T>G	c.(5377-5379)gTc>gGc	p.V1793G		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1793					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATCTCCAGGGACCAAAGGCAG	0.478000													35	42					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7049119	7049119	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:7049119G>T	ENST00000381309.3	+	17	2908	c.2343G>T	c.(2341-2343)gcG>gcT	p.A781A	KDM4C_ENST00000428870.2_Silent_p.A468A|KDM4C_ENST00000543771.1_Silent_p.A781A|KDM4C_ENST00000442236.2_Silent_p.A526A|KDM4C_ENST00000381306.3_Silent_p.A781A|KDM4C_ENST00000535193.1_Silent_p.A803A|KDM4C_ENST00000536108.1_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	781					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GCGCCGTTGCGGTCCCAGAAG	0.428000													24	14					1.2476e-16	1.48152e-16	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153029957	153029957	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:153029957C>A	ENST00000285900.5	+	4	871	c.528C>A	c.(526-528)aaC>aaA	p.N176K	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.N186K|GRIA1_ENST00000340592.5_Missense_Mutation_p.N176K|GRIA1_ENST00000521843.2_Missense_Mutation_p.N107K|GRIA1_ENST00000518783.1_Missense_Mutation_p.N186K|GRIA1_ENST00000518142.1_Missense_Mutation_p.N96K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	176					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGCAGTCAACATTTTGACAA	0.498000													26	49					9.80776e-20	1.19055e-19	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746278	77746278	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:77746278G>T	ENST00000409088.3	-	3	1131	c.717C>A	c.(715-717)aaC>aaA	p.N239K	LRRTM4_ENST00000409282.1_Missense_Mutation_p.N240K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.N239K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.N239K|LRRTM4_ENST00000409911.1_Missense_Mutation_p.N240K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	239						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGCGAATCCTGTTCCATTGTA	0.448000													16	22					3.41278e-10	3.81429e-10	1	1	0
MKRN1	23608	broad.mit.edu	37	7	140159540	140159540	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:140159540C>G	ENST00000255977.2	-	3	735	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.E107Q|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Missense_Mutation_p.E171Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	171							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGAACAAACTCAATAGCATTC	0.428000													78	72					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63195772	63195772	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:63195772C>T	ENST00000228705.6	-	3	880	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	194	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAGGCTCCTCCCCCAGGCAG	0.716000													40	189					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518622	108518622	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:108518622G>T	ENST00000375915.2	-	1	461	c.323C>A	c.(322-324)gCg>gAg	p.A108E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	108						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCCATGCTCGCCAGGAGCGC	0.761000													29	8					1.04121e-07	1.11249e-07	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978984	247978984	+	Silent	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:247978984A>G	ENST00000357627.1	-	1	47	c.48T>C	c.(46-48)tcT>tcC	p.S16S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTTTATTGGTAGAAAACCCCA	0.363000													24	20					0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81076028	81076028	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:81076028G>A	ENST00000566488.1	+	2	1100	c.137G>A	c.(136-138)aGa>aAa	p.R46K	ATMIN_ENST00000299575.4_Missense_Mutation_p.R202K|ATMIN_ENST00000539819.1_Intron|ATMIN_ENST00000564241.1_Missense_Mutation_p.R46K			O43313	ATMIN_HUMAN	ATM interactor	202					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TACGCCAGTAGAACAGCACTG	0.522000													31	18					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859682	132859682	+	RNA	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:132859682T>A	ENST00000434551.1	+	0	254					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGAGTCACTGTGATGCCCTTC	0.468000													37	55					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665702	71665702	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:71665702G>T	ENST00000230053.6	-	1	1039	c.431C>A	c.(430-432)aCg>aAg	p.T144K		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	144					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGCCGCGGCGTGGGCACGTG	0.766000													5	7					8.12818e-05	8.3774e-05	1	1	0
FGF9	2254	broad.mit.edu	37	13	22275530	22275530	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:22275530G>C	ENST00000382353.5	+	3	1113	c.583G>C	c.(583-585)Gac>Cac	p.D195H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	195					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGTGGACCCCGACAAAGTACC	0.398000													59	20					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9758762	9758762	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:9758762T>A	ENST00000383832.3	+	15	1095	c.905T>A	c.(904-906)gTa>gAa	p.V302E	CPNE9_ENST00000383831.3_Missense_Mutation_p.V302E	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	302	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					AACTTCACAGTAGCCATTGAC	0.443000													18	15					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110864	151110864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:151110864C>A	ENST00000341697.3	-	8	2166	c.475G>T	c.(475-477)Gag>Tag	p.E159*				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	159	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTCACCCTCCTGCTGCAGC	0.572000													19	15					4.35082e-09	4.75327e-09	1	1	0
LIMK1	3984	broad.mit.edu	37	7	73513500	73513500	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:73513500C>T	ENST00000418310.1	+	5	732	c.630C>T	c.(628-630)gtC>gtT	p.V210V	LIMK1_ENST00000538333.3_Silent_p.V146V|LIMK1_ENST00000336180.2_Silent_p.V180V|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	180	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GACTTTCAGTCTCCATTGACC	0.682000													204	164					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20639378	20639378	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:20639378C>T	ENST00000525748.1	+	7	1481	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	403					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTTCCTGGCTTGGGTCATT	0.483000													78	62					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114128103	114128103	+	Silent	SNP	A	A	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:114128103A>C	ENST00000369615.1	+	4	710	c.648A>C	c.(646-648)gcA>gcC	p.A216A	MAGI3_ENST00000369617.4_Silent_p.A216A|MAGI3_ENST00000369611.4_Silent_p.A216A|MAGI3_ENST00000307546.9_Silent_p.A216A	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	216	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGATGCAGAATCTCAAA	0.438000													44	61					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62775156	62775156	+	RNA	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:62775156G>A	ENST00000400873.3	-	0	1019					NR_026899.1																						GTACGTACACGTCCCCCTCCA	0.672000													5	3					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35175277	35175277	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:35175277C>T	ENST00000505242.1	+	5	829	c.335C>T	c.(334-336)tCt>tTt	p.S112F	ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000507959.1_3'UTR|ZNF302_ENST00000446502.2_Missense_Mutation_p.S156F|ZNF302_ENST00000457781.2_Missense_Mutation_p.S112F|ZNF302_ENST00000423823.2_Missense_Mutation_p.S112F			Q9NR11	ZN302_HUMAN	zinc finger protein 302	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTTTCAAATTCTAATAAGAAT	0.313000													25	27					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719986	155719986	+	Missense_Mutation	SNP	G	G	C	rs149479220		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:155719986G>C	ENST00000510397.1	+	4	851	c.672G>C	c.(670-672)gaG>gaC	p.E224D	RBM46_ENST00000281722.3_Missense_Mutation_p.E224D|RBM46_ENST00000514866.1_Missense_Mutation_p.E224D	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	224							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTGACCCAGAGAAAGAGGTGG	0.328000													9	3					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651401	96651401	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:96651401G>C	ENST00000302103.5	+	3	696	c.370G>C	c.(370-372)Gct>Cct	p.A124P		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	124					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACCTCAGCAAGCTAGGCCACC	0.463000													30	56					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146989	38146989	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:38146989C>T	ENST00000317025.8	-	18	3670	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	WHSC1L1_ENST00000527502.1_Silent_p.L1051L|WHSC1L1_ENST00000433384.2_Silent_p.L1002L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1051					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTGTGCTTTCAATTCCTGGA	0.378000			T	NUP98	AML								69	816					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475297	77475297	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr18:77475297A>T	ENST00000299543.7	+	8	1984	c.1837A>T	c.(1837-1839)Aac>Tac	p.N613Y	CTDP1_ENST00000075430.7_Missense_Mutation_p.N613Y	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	613					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCGCTACCTCAACAAGGAGAT	0.567000													5	3					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56409233	56409233	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr18:56409233G>A	ENST00000348428.3	+	14	1998	c.1740G>A	c.(1738-1740)tgG>tgA	p.W580*	MALT1_ENST00000345724.3_Nonsense_Mutation_p.W569*|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	580					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ATCTACAGTGGGCCAAGGCTC	0.378000			T	BIRC3	MALT								17	107					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885233	13885233	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:13885233T>C	ENST00000265104.4	-	19	2952	c.2848A>G	c.(2848-2850)Atg>Gtg	p.M950V	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	950	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCCCTAACATCTCAGTTTCT	0.433000									Kartagener syndrome				189	45					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83832673	83832673	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:83832673G>C	ENST00000349129.2	+	12	1572	c.1312G>C	c.(1312-1314)Gtt>Ctt	p.V438L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.V429L|DOPEY1_ENST00000237163.5_Missense_Mutation_p.V429L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	438					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTGGGATTATGTTGCACGCTG	0.303000													12	10					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125660522	125660522	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:125660522C>A	ENST00000431078.1	+	22	3861	c.3497C>A	c.(3496-3498)tCt>tAt	p.S1166Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1166	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGATGCATGTCTTCCGTCCAG	0.483000													14	9					2.61681e-11	2.97025e-11	1	1	0
NHEJ1	79840	broad.mit.edu	37	2	220012436	220012436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:220012436G>T	ENST00000356853.5	-	4	605	c.472C>A	c.(472-474)Cat>Aat	p.H158N	NHEJ1_ENST00000409720.1_Missense_Mutation_p.H158N	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	158					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCTTTCATATGAAGTAACGTT	0.488000								Non-homologous end-joining					39	44					8.73648e-17	1.04313e-16	1	1	0
ACTL8	81569	broad.mit.edu	37	1	18149756	18149756	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:18149756G>A	ENST00000375406.1	+	2	469	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	85						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CTGGTCATTTGTGTTGGAGAA	0.587000													81	30					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105069	168105069	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:168105069T>C	ENST00000409195.1	+	9	7256	c.7167T>C	c.(7165-7167)agT>agC	p.S2389S	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.S2389S|XIRP2_ENST00000409273.1_Silent_p.S2167S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2214					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGCACAGTGGAGACTTCA	0.473000													34	90					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681057	161681057	+	Missense_Mutation	SNP	C	C	A	rs147592382		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:161681057C>A	ENST00000540926.1	+	4	603	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.R98S|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R121S|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.R115S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367953.3_Missense_Mutation_p.R104S|FCRLA_ENST00000540521.1_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	98	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCTGGTTCTGCGCTGCCAGGC	0.597000													15	49					6.72482e-11	7.57409e-11	1	1	0
RBM19	9904	broad.mit.edu	37	12	114352884	114352884	+	Silent	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:114352884G>C	ENST00000545145.2	-	21	2526	c.2448C>G	c.(2446-2448)gcC>gcG	p.A816A	RBM19_ENST00000392561.3_Silent_p.A816A|RBM19_ENST00000261741.5_Silent_p.A816A	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	816					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCAATGTCACGGCTGGCCTGG	0.577000													52	16					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470749	10470749	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:10470749G>T	ENST00000382483.3	-	4	1082	c.859C>A	c.(859-861)Cct>Act	p.P287T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	287					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGGAGCAGGGCCCACCGGG	0.662000													62	30					8.72158e-25	1.11769e-24	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33958841	33958841	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:33958841A>T	ENST00000361328.3	+	7	1652	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	500					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCTCAGTGAGTCCCCATTC	0.552000													43	13					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978003	12978003	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:12978003C>T	ENST00000273221.4	-	3	771	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	185					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGTGCACTTTCTCAGGCCCCT	0.587000													30	37					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061105	15061105	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:15061105C>G	ENST00000430939.2	-	9	1534	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	SLC1A6_ENST00000221742.3_Missense_Mutation_p.E533Q|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E455Q			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	533					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGGGTAAGCTCAGCTTCCTGA	0.612000													59	17					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507178	18507178	+	Missense_Mutation	SNP	C	C	T	rs34347418	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:18507178C>T	ENST00000339007.3	-	1	1249	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.R199Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	199						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTCAGCTCCCGGCTTCTGGC	0.672000													80	12					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18755103	18755103	+	Splice_Site	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:18755103C>A	ENST00000396170.1	-	10	2248	c.984_splice	c.e10+1	p.R328_splice	PTPN5_ENST00000396171.4_Splice_Site_p.R360_splice|PTPN5_ENST00000358540.2_Splice_Site_p.R360_splice|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000477854.1_Splice_Site_p.R164_splice|PTPN5_ENST00000396168.1_Splice_Site_p.R336_splice|PTPN5_ENST00000396167.2_Splice_Site_p.R328_splice	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	360	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GAATACGTACCCGGATGTAGT	0.587000													21	77					6.44725e-10	7.15089e-10	1	1	0
BRCA1	672	broad.mit.edu	37	17	41222985	41222985	+	Missense_Mutation	SNP	C	C	G	rs80357761		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:41222985C>G	ENST00000309486.4	-	14	5085	c.4058G>C	c.(4057-4059)aGa>aCa	p.R1353T	BRCA1_ENST00000351666.3_Missense_Mutation_p.R466T|BRCA1_ENST00000471181.2_Missense_Mutation_p.R1670T|BRCA1_ENST00000352993.3_Missense_Mutation_p.R507T|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591534.1_Missense_Mutation_p.R140T|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.R1602T|BRCA1_ENST00000468300.1_Missense_Mutation_p.R545T|BRCA1_ENST00000357654.3_Missense_Mutation_p.R1649T|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.R545T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1649					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1649K(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGGACATTCTTTTGTTGAC	0.433000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			66	66					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60996007	60996007	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:60996007T>A	ENST00000238714.3	+	5	669	c.420T>A	c.(418-420)gaT>gaA	p.D140E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	140					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AACATCAAGATGGCATTAGAA	0.294000													3	6					0	0	1	0	0
PELI2	57161	broad.mit.edu	37	14	56763638	56763638	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:56763638G>T	ENST00000267460.4	+	6	1303	c.1017G>T	c.(1015-1017)agG>agT	p.R339S		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	p.R339S(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CCATGTGCAGGACTGTGGGCC	0.592000													77	100					7.2426e-40	9.98428e-40	1	1	0
EFTUD1	79631	broad.mit.edu	37	15	82533674	82533674	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:82533674G>A	ENST00000268206.7	-	5	483	c.315C>T	c.(313-315)acC>acT	p.T105T	EFTUD1_ENST00000359445.3_Silent_p.T54T	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	105					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGCGAACAGCGGTTGATACTT	0.398000													20	38					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24527070	24527070	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:24527070G>A	ENST00000342740.5	+	15	1353	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	400										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AACCTGGCTCGCAACAGCTGC	0.657000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	56					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	55922459	55922459	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:55922459C>T	ENST00000288221.6	-	14	2777	c.2522G>A	c.(2521-2523)cGg>cAg	p.R841Q		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	841						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R841L(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTCTCAATCCGGAGGTTGGC	0.552000													48	85					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730789	22730789	+	RNA	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:22730789C>A	ENST00000390296.2	+	0	312																											GATGCTTCGGCCAATGCAGGG	0.527000													44	82					5.73435e-26	7.41394e-26	1	1	0
TTN	7273	broad.mit.edu	37	2	179417704	179417704	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179417704C>T	ENST00000589042.1	-	335	90147	c.89923G>A	c.(89923-89925)Gcc>Acc	p.A29975T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20910T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21035T|TTN_ENST00000591111.1_Missense_Mutation_p.A28334T|TTN_ENST00000342992.6_Missense_Mutation_p.A27407T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21102T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28334	Ig-like 136.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCTTGGTGGCATCTCTCTTT	0.418000													9	37					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23891078	23891078	+	Translation_Start_Site	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:23891078C>T	ENST00000532292.1	-	1	97	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCTGGAATTCCATTGACGTTG	0.667000													3	1					0	0	1	0	0
HPGD	3248	broad.mit.edu	37	4	175416762	175416762	+	Silent	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:175416762A>T	ENST00000296522.6	-	5	881	c.435T>A	c.(433-435)gtT>gtA	p.V145V	HPGD_ENST00000422112.2_Silent_p.V77V|HPGD_ENST00000541923.1_Silent_p.V24V|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Silent_p.V145V|HPGD_ENST00000510901.1_Silent_p.V24V	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	145					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	GCTGCTGTGCAACGGGCATGA	0.388000													27	9					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870316	47870316	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:47870316C>A	ENST00000396105.1	-	11	3238	c.2992G>T	c.(2992-2994)Gtg>Ttg	p.V998L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.V998L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.V998L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	998							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCGGCTCCACCTTCTGTAGG	0.542000													158	222					2.78415e-52	3.96311e-52	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107613482	107613482	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:107613482C>T	ENST00000393561.1	-	11	1773	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E	LAMB1_ENST00000393560.1_Missense_Mutation_p.G506E|LAMB1_ENST00000222399.6_Missense_Mutation_p.G506E			P07942	LAMB1_HUMAN	laminin, beta 1	506	Laminin EGF-like 5; truncated.				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)	TGGTCGACATCCATCCAAATC	0.458000													25	81					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157739790	157739790	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:157739790G>A	ENST00000361516.3	-	4	509	c.461C>T	c.(460-462)tCa>tTa	p.S154L	FCRL2_ENST00000392274.3_Missense_Mutation_p.S154L|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	154	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTCCAGCCTGACCCCAGGAC	0.557000													31	71					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60996008	60996008	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:60996008G>T	ENST00000238714.3	+	5	670	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	141					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ACATCAAGATGGCATTAGAAA	0.294000													3	6					0.004672	0.00474806	1	1	0
SOAT1	6646	broad.mit.edu	37	1	179304745	179304745	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:179304745C>T	ENST00000367619.3	+	4	425	c.282C>T	c.(280-282)ctC>ctT	p.L94L	SOAT1_ENST00000539888.1_Silent_p.L29L|SOAT1_ENST00000540564.1_Silent_p.L36L|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	94					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGTGCGCTCTCACAACCTTTT	0.363000													25	78					0	0	1	0	0
OR5K3	403277	broad.mit.edu	37	3	98110226	98110226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:98110226T>A	ENST00000383695.1	+	1	717	c.717T>A	c.(715-717)tgT>tgA	p.C239*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCTACTTGTGCATCTCACT	0.363000													60	45					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63011990	63011990	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:63011990C>T	ENST00000561311.1	+	24	3132	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TLN2_ENST00000306829.6_Silent_p.L968L			Q9Y4G6	TLN2_HUMAN	talin 2	968	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CATCCCTCAGCTGGTCCAGGG	0.547000													11	9					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40625245	40625245	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:40625245C>A	ENST00000297737.6	-	3	253	c.107G>T	c.(106-108)cGa>cTa	p.R36L	ZMAT4_ENST00000315769.7_Missense_Mutation_p.R36L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	36						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TGCATGTTTTCGACTCTGGGA	0.453000													20	107					3.99206e-14	4.61516e-14	1	1	0
SAMD3	154075	broad.mit.edu	37	6	130497057	130497057	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:130497057G>C	ENST00000532763.1	-	7	874	c.745C>G	c.(745-747)Cac>Gac	p.H249D	SAMD3_ENST00000457563.2_Missense_Mutation_p.H275D|SAMD3_ENST00000437477.2_Missense_Mutation_p.H251D|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.H251D|SAMD3_ENST00000368134.2_Missense_Mutation_p.H251D			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	251										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCTCTTCGGTGTCCAAATTTA	0.348000													57	54					0	0	1	0	0
DPPA5	340168	broad.mit.edu	37	6	74063753	74063753	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:74063753G>T	ENST00000370370.3	-	2	184	c.115C>A	c.(115-117)Ccg>Acg	p.P39T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GATCCGTCCGGGCCTGTTGGG	0.612000													26	84					1.77063e-15	2.08002e-15	1	1	0
TRAPPC13	80006	broad.mit.edu	37	5	64960403	64960403	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:64960403T>C	ENST00000399438.3	+	13	1564	c.1219T>C	c.(1219-1221)Tgt>Cgt	p.C407R	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.C408R|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.C409R|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.C401R|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.C402R	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		CGCACAAGTCTGTGTGGTATC	0.373000													17	1					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055140	62055140	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:62055140C>G	ENST00000577390.1	-	2	1122	c.168G>C	c.(166-168)ttG>ttC	p.L56F	CDH8_ENST00000577730.1_Missense_Mutation_p.L56F|CDH8_ENST00000584337.1_Missense_Mutation_p.L56F|CDH8_ENST00000299345.6_Missense_Mutation_p.L56F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	56					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGCGGTTCAAAATTCGCT	0.443000													40	16					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956464	143956464	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:143956464C>A	ENST00000292427.4	-	8	1339	c.1307G>T	c.(1306-1308)aGg>aTg	p.R436M	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R507M|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	436					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTAGAAGTTCCTGCCGGAGCC	0.642000									Familial Hyperaldosteronism type I				131	102					1.19401e-59	1.71639e-59	1	1	0
RYR1	6261	broad.mit.edu	37	19	38964325	38964325	+	Silent	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:38964325G>C	ENST00000355481.4	+	28	4205	c.4074G>C	c.(4072-4074)ggG>ggC	p.G1358G	RYR1_ENST00000359596.3_Silent_p.G1358G|RYR1_ENST00000360985.3_Silent_p.G1358G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1358	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGCCCCCGGGGGCACCCCGC	0.682000													4	5					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157355	97157355	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:97157355C>G	ENST00000287020.5	-	2	903	c.804G>C	c.(802-804)agG>agC	p.R268S		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	268					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GAGGCCGCACCCTCCGGCCGA	0.746000													8	5					0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	732913	732913	+	Silent	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr18:732913C>A	ENST00000584307.1	-	11	1514	c.1344G>T	c.(1342-1344)cgG>cgT	p.R448R	YES1_ENST00000314574.4_Silent_p.R448R|YES1_ENST00000577961.1_Silent_p.R453R			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	448	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTATTGTAAACCGACCATACA	0.368000													48	278					5.34276e-22	6.68993e-22	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039818	31039818	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:31039818G>T	ENST00000355537.3	+	4	3439	c.3292G>T	c.(3292-3294)Ggc>Tgc	p.G1098C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1098					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGCATGGACCGGCCACGTGGA	0.547000													19	66					8.00594e-06	8.43035e-06	1	1	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:24509862G>T	ENST00000264463.4	-	7	1576	c.1069C>A	c.(1069-1071)Ccc>Acc	p.P357T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)			20	75					3.62473e-10	4.03055e-10	1	1	0
RPL7L1	285855	broad.mit.edu	37	6	42854020	42854020	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:42854020G>T	ENST00000493763.1	+	6	862	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	RPL7L1_ENST00000304734.5_Missense_Mutation_p.D187Y|RPL7L1_ENST00000424341.2_Missense_Mutation_p.R150I|RPL7L1_ENST00000397415.3_3'UTR	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	187					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TTGCTTGGAAGACCTCATTCA	0.453000													32	119					3.76114e-14	4.35973e-14	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067355	190067355	+	Silent	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:190067355T>A	ENST00000367462.3	-	8	2325	c.2094A>T	c.(2092-2094)tcA>tcT	p.S698S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.S596S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		698						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAAAAGTGCTGAATCCTGGG	0.473000													64	41					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10941966	10941966	+	Missense_Mutation	SNP	A	A	T	rs149843545	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:10941966A>T	ENST00000298232.7	-	13	1050	c.683T>A	c.(682-684)aTt>aAt	p.I228N	TPTE_ENST00000361285.4_Missense_Mutation_p.I246N|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.I208N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	246	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAGCAATAATACGTTCTAA	0.284000													8	154					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003179	50003179	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:50003179G>T	ENST00000335238.4	-	1	892	c.859C>A	c.(859-861)Ctc>Atc	p.L287I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GCATTTCTGAGTGTGTAGACC	0.393000													21	56					2.37509e-13	2.72419e-13	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63257544	63257544	+	Translation_Start_Site	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:63257544C>A	ENST00000323865.3	-	1	236	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	1					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGAGCACATCCATGCCTGCGC	0.642000													50	13					2.81731e-22	3.54802e-22	1	1	0
STAM2	10254	broad.mit.edu	37	2	152989769	152989769	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:152989769C>G	ENST00000263904.4	-	10	1237	c.888G>C	c.(886-888)aaG>aaC	p.K296N		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	296					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CTCTATCCATCTTATCCTAAA	0.338000													26	96					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2321388	2321388	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:2321388C>T	ENST00000378531.3	-	2	297	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	MORN1_ENST00000606372.1_Intron|MORN1_ENST00000378529.3_Missense_Mutation_p.E42K	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	42										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GCTTTCCATTCTCCTTCATAT	0.502000													22	37					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179537674	179537674	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:179537674G>T	ENST00000467460.1	-	9	1243	c.913C>A	c.(913-915)Caa>Aaa	p.Q305K	PEX5L_ENST00000485199.1_Missense_Mutation_p.Q270K|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q246K|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q281K|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q197K|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q262K|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q197K|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q303K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q113K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	305					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATGGTTACTTGGTTCTGGGCT	0.418000													52	146					2.74695e-27	3.58334e-27	1	1	0
BCL2L11	10018	broad.mit.edu	37	2	111921786	111921786	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:111921786G>T	ENST00000393256.3	+	4	848	c.575G>T	c.(574-576)cGc>cTc	p.R192L	BCL2L11_ENST00000308659.8_Missense_Mutation_p.R132L	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	192					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TACATTGTCCGCCTGGTGTGG	0.463000													25	78					2.41591e-17	2.89247e-17	1	1	0
ZSCAN1	284312	broad.mit.edu	37	19	58563904	58563904	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:58563904C>A	ENST00000282326.1	+	5	759	c.512C>A	c.(511-513)cCc>cAc	p.P171H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGCACTCCCCGAGGAAAGT	0.647000													66	18					2.60599e-31	3.47201e-31	1	1	0
KIAA1755	85449	broad.mit.edu	37	20	36856570	36856570	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:36856570G>A	ENST00000279024.4	-	6	2215	c.1944C>T	c.(1942-1944)gtC>gtT	p.V648V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	648										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAGGGCGCTGACCAGACCGG	0.617000													24	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582401	179582401	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179582401C>T	ENST00000589042.1	-	87	25424	c.25200G>A	c.(25198-25200)ttG>ttA	p.L8400L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.L8083L|TTN_ENST00000342992.6_Silent_p.L7156L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8083	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATCTTTCAAAAGAACCC	0.418000													19	17					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20885979	20885979	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:20885979C>T	ENST00000381552.1	+	10	1691	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	SLCO1C1_ENST00000545604.1_Silent_p.S441S|SLCO1C1_ENST00000545102.1_Silent_p.S323S|SLCO1C1_ENST00000540354.1_Silent_p.S392S|SLCO1C1_ENST00000266509.2_Silent_p.S441S			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	441					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TATTTCTTTCCCTGTTTGCAC	0.418000													63	152					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644498	20644498	+	RNA	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:20644498G>T	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGATGGCCAC	0.632000													3	12					0.150653	0.150999	1	1	0
ABCB7	22	broad.mit.edu	37	X	74291423	74291423	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:74291423C>A	ENST00000253577.3	-	9	1155	c.1131G>T	c.(1129-1131)atG>atT	p.M377I	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Missense_Mutation_p.M376I|ABCB7_ENST00000339447.4_Missense_Mutation_p.M336I	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	376	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CAAAGTTCAGCATAGCCAGAG	0.393000													7	43					8.12818e-05	8.3774e-05	1	1	0
TTYH1	57348	broad.mit.edu	37	19	54946839	54946839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:54946839C>T	ENST00000301194.4	+	11	1365	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	TTYH1_ENST00000376531.3_Nonsense_Mutation_p.R415*|TTYH1_ENST00000391739.3_Missense_Mutation_p.445_445insL|TTYH1_ENST00000489425.1_3'UTR|TTYH1_ENST00000376530.3_Nonsense_Mutation_p.R415*			Q9H313	TTYH1_HUMAN	tweety family member 1	415					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CAGCCTGCCCCGAGCCTGGGC	0.701000													23	31					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	405064	405064	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:405064G>C	ENST00000256509.2	+	14	2225	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.R512T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	512	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGATATTAGAAGTATTTTT	0.378000													35	40					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868680	31868680	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:31868680C>G	ENST00000375527.2	-	2	578	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						ACCCCATCCTCTTTGAGGCCT	0.602000													72	63					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110865	151110865	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:151110865C>A	ENST00000341697.3	-	8	2165	c.474G>T	c.(472-474)caG>caT	p.Q158H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	158	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCACCCTCCTGCTGCAGCG	0.572000													19	14					4.35082e-09	4.75327e-09	1	1	0
CD163	9332	broad.mit.edu	37	12	7653945	7653945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:7653945C>A	ENST00000359156.4	-	3	449	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	CD163_ENST00000396620.3_Nonsense_Mutation_p.E83*|CD163_ENST00000432237.2_Nonsense_Mutation_p.E83*|CD163_ENST00000541972.1_Nonsense_Mutation_p.E71*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	83	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GAGACCGCTTCCATGCTCCAG	0.522000													83	123					8.87156e-34	1.20027e-33	1	1	0
TRAIP	10293	broad.mit.edu	37	3	49877731	49877731	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:49877731C>T	ENST00000331456.2	-	9	894	c.781G>A	c.(781-783)Gac>Aac	p.D261N	TRAIP_ENST00000469027.1_Missense_Mutation_p.D106N	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	261	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTCCTTGTCAGCACTCTGT	0.512000													19	40					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70387440	70387440	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:70387440G>T	ENST00000374051.3	+	6	1755	c.1433G>T	c.(1432-1434)gGc>gTc	p.G478V	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.G458V|NLGN3_ENST00000358741.3_Missense_Mutation_p.G498V	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	498					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCCCGCTACGGCTCGCCTACC	0.557000													15	41					3.27435e-08	3.53307e-08	1	1	0
ART1	417	broad.mit.edu	37	11	3681212	3681212	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:3681212C>A	ENST00000250693.1	+	3	564	c.463C>A	c.(463-465)Cat>Aat	p.H155N		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	155					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CAAGACACTCCATTTCCTGCT	0.672000													56	53					4.6707e-30	6.16645e-30	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115526174	115526174	+	Silent	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:115526174A>G	ENST00000361048.1	+	3	360	c.33A>G	c.(31-33)aaA>aaG	p.K11K	PLEKHS1_ENST00000369310.3_Silent_p.K5K|PLEKHS1_ENST00000369312.4_5'UTR	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		TATTAGGCAAACAATTTACAT	0.343000													21	5					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70461189	70461189	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:70461189C>T	ENST00000373998.1	-	24	4469	c.3772G>A	c.(3772-3774)Ggt>Agt	p.G1258S	ZMYM3_ENST00000314425.5_Missense_Mutation_p.G1270S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.G1272S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.G1180S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.G1270S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1270					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTTCCAGGACCCGTGTCTATA	0.512000													9	5					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243289819	243289819	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:243289819C>A	ENST00000366542.1	-	20	4738	c.4687G>T	c.(4687-4689)Gat>Tat	p.D1563Y	CEP170_ENST00000481987.1_Missense_Mutation_p.D299Y|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000490813.1_Missense_Mutation_p.D272Y|CEP170_ENST00000366544.1_Missense_Mutation_p.D1465Y|CEP170_ENST00000366543.1_Missense_Mutation_p.D1439Y	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1563	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATACTGAAATCAGCCTCAGAT	0.448000													8	5					2.17888e-05	2.28338e-05	1	1	0
CPA3	1359	broad.mit.edu	37	3	148586711	148586711	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:148586711T>C	ENST00000296046.3	+	3	206	c.154T>C	c.(154-156)Tgg>Cgg	p.W52R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	52					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCTTGACTTCTGGTATCCAGG	0.428000													22	56					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128050384	128050384	+	Silent	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:128050384T>A	ENST00000493187.2	-	3	544	c.81A>T	c.(79-81)ccA>ccT	p.P27P	ERCC3_ENST00000285398.2_Silent_p.P91P			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	91	Asp/Glu-rich (acidic).				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ATTTGTAAACTGGAGAGAAGG	0.478000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				53	38					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13485749	13485749	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:13485749T>A	ENST00000288723.4	-	1	240	c.26A>T	c.(25-27)cAg>cTg	p.Q9L	RAB28_ENST00000338176.4_Missense_Mutation_p.Q9L|RAB28_ENST00000330852.5_Missense_Mutation_p.Q9L	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	9					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTGCCGGTCCTGGCTCTCCTC	0.706000													4	12					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823665	74823665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:74823665C>A	ENST00000256362.4	+	2	420	c.179C>A	c.(178-180)tCg>tAg	p.S60*		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	60					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAAGTGGACTCGGTGGCCCTG	0.642000													96	75					2.08528e-44	2.9114e-44	1	1	0
GRM5	2915	broad.mit.edu	37	11	88386447	88386447	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:88386447G>T	ENST00000418177.2	-	4	1403	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	GRM5_ENST00000305447.4_Missense_Mutation_p.P346T|GRM5_ENST00000455756.2_Missense_Mutation_p.P346T|GRM5_ENST00000393297.1_Missense_Mutation_p.P346T|GRM5_ENST00000305432.5_Missense_Mutation_p.P346T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	346					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTTGTTTCTGGCCGGAGCTTC	0.458000													21	87					1.96292e-10	2.19948e-10	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123813971	123813971	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:123813971G>T	ENST00000321252.2	-	1	609	c.575C>A	c.(574-576)aCc>aAc	p.T192N		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGCAGGTGGGTGTCCCCACA	0.542000													83	22					4.03997e-35	5.48282e-35	1	1	0
KIAA2018	205717	broad.mit.edu	37	3	113380124	113380124	+	Silent	SNP	A	A	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:113380124A>C	ENST00000316407.4	-	7	815	c.405T>G	c.(403-405)tcT>tcG	p.S135S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S135S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	135					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAATAACAACAGAGACCTTTG	0.378000													32	100					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906357	164906357	+	Silent	SNP	G	G	T	rs146211129		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:164906357G>T	ENST00000475390.1	-	2	2705	c.2262C>A	c.(2260-2262)ccC>ccA	p.P754P	SLITRK3_ENST00000241274.3_Silent_p.P754P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	754						integral to membrane		p.P754P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTTGTAGATGGGGTTGTTGC	0.582000										HNSCC(40;0.11)			56	46					9.72345e-25	1.24244e-24	1	1	0
TMEM241	85019	broad.mit.edu	37	18	20953708	20953708	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr18:20953708C>A	ENST00000383233.3	-	7	455	c.403G>T	c.(403-405)Gca>Tca	p.A135S	TMEM241_ENST00000450466.2_Missense_Mutation_p.A14S|TMEM241_ENST00000542162.1_Missense_Mutation_p.A135S	NM_032933.4	NP_116322.3	Q24JQ0	CR045_HUMAN	transmembrane protein 241	135						integral to membrane											CATCCTGCTGCGGCCAGGAGG	0.493000													40	26					2.59497e-14	3.02401e-14	1	1	0
GFRAL	389400	broad.mit.edu	37	6	55192370	55192370	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:55192370C>G	ENST00000340465.2	+	1	104	c.18C>G	c.(16-18)ttC>ttG	p.F6L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	6						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTTTATTTTCTTGGGTAAGT	0.368000													51	49					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539827	120539827	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:120539827C>T	ENST00000256646.2	-	4	763	c.544G>A	c.(544-546)Gat>Aat	p.D182N	NOTCH2_ENST00000602566.1_Missense_Mutation_p.D143N	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	182	EGF-like 5; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATTGACATCAGTCTCACAT	0.552000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				68	56					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547439	165547439	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:165547439C>A	ENST00000264381.3	-	2	1549	c.1383G>T	c.(1381-1383)tgG>tgT	p.W461C	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	461					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCACTCCCATCCATTCTGGCC	0.418000													61	60					1.45723e-30	1.92972e-30	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110523119	110523119	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:110523119C>A	ENST00000378402.5	+	71	11613	c.11509C>A	c.(11509-11511)Cct>Act	p.P3837T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3837					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGCACCAGTCCTCAGAATCT	0.408000										HNSCC(38;0.096)			82	185					1.04643e-32	1.41138e-32	1	1	0
MYO10	4651	broad.mit.edu	37	5	16666852	16666852	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:16666852C>T	ENST00000513610.1	-	41	6580	c.6126G>A	c.(6124-6126)aaG>aaA	p.K2042K	MYO10_ENST00000274203.9_Silent_p.K1399K|MYO10_ENST00000505695.1_Silent_p.K1381K|MYO10_ENST00000427430.2_Silent_p.K1399K|MYO10_ENST00000515803.1_Silent_p.K1381K	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2042	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGTAGCGCTTCTTCACGATCA	0.612000											OREG0016531	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26					0	0	1	0	0
LGALS16	148003	broad.mit.edu	37	19	40148588	40148588	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:40148588C>T	ENST00000392051.3	+	2	149	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_001190441.1	NP_001177370.1	A8MUM7	A8MUM7_HUMAN	lectin, galactoside-binding, soluble, 16	27							sugar binding										GGACACTGATCGACTCTTCTA	0.468000													42	20					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26127952	26127952	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:26127952G>T	ENST00000381655.2	+	12	1221	c.1079G>T	c.(1078-1080)gGa>gTa	p.G360V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G320V	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	320					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATAATTTTGGATACAACCTA	0.378000													79	41					6.11987e-43	8.49011e-43	1	1	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	10					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9943590	9943590	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:9943590T>C	ENST00000506583.1	-	8	891	c.674A>G	c.(673-675)gAc>gGc	p.D225G	SLC2A9_ENST00000309065.3_Missense_Mutation_p.D225G|SLC2A9_ENST00000264784.3_Missense_Mutation_p.D254G			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	254					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCGTGGGCTGTCCGGGAGAAA	0.582000													14	44					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38187102	38187102	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:38187102C>T	ENST00000317025.8	-	6	1892	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E459K|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.E459K|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E459K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	459					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTTCCTCTTCCGCACTTGTG	0.522000			T	NUP98	AML								61	745					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56387950	56387950	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:56387950C>T	ENST00000423270.1	-	9	1975	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	RFX7_ENST00000317318.6_Missense_Mutation_p.R659Q|RFX7_ENST00000422057.1_Missense_Mutation_p.R562Q|RFX7_ENST00000559447.2_Missense_Mutation_p.R562Q	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	562					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAGACAGTCGTTTTCTTGG	0.448000													29	48					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91146852	91146852	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:91146852T>C	ENST00000357056.2	-	8	1099	c.978A>G	c.(976-978)gaA>gaG	p.E326E	TTC7B_ENST00000328459.6_Silent_p.E326E			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	326							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACAGGGCTTCTTCCGTATTTT	0.368000													18	64					0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4056594	4056594	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:4056594G>T	ENST00000337659.6	+	12	2606	c.2506G>T	c.(2506-2508)Ggg>Tgg	p.G836W	PRPF4B_ENST00000538861.1_Missense_Mutation_p.G822W	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	836	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.G836W(1)|p.G325W(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TTGCGATTTTGGGTCGGCTTC	0.323000													41	99					8.16277e-20	9.9363e-20	1	1	0
APC2	10297	broad.mit.edu	37	19	1461077	1461077	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:1461077C>T	ENST00000535453.1	+	12	3276	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	APC2_ENST00000238483.4_Silent_p.D247D|APC2_ENST00000233607.2_Silent_p.D521D|CTB-25B13.12_ENST00000588225.1_RNA			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	521					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GGAGGGCCGACATCAACAGCA	0.672000													218	44					0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980968	23980968	+	RNA	SNP	T	T	A	rs13056126	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:23980968T>A	ENST00000390329.2	-	0	160				AP000347.4_ENST00000430707.2_RNA																							GGGCGTGGTCTTCTCCACGCT	0.562000													6	52					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783980	25783980	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:25783980C>A	ENST00000399878.3	-	15	2463	c.2341G>T	c.(2341-2343)Gcc>Tcc	p.A781S	SEL1L3_ENST00000502949.1_Missense_Mutation_p.A628S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.A746S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	781						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCTGCTTTGGCGTAATTTTTC	0.408000													64	14					3.95532e-38	5.43546e-38	1	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186946807	186946807	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:186946807G>A	ENST00000367466.3	+	16	1999	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.G556E	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	616	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GATCGGGAAGGGCTGAAGGAG	0.423000													32	76					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824808	54824808	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:54824808C>A	ENST00000243911.2	+	1	1021	c.909C>A	c.(907-909)agC>agA	p.S303R		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	340					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.S340R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTTTCCGGAGCCTGGAATTGC	0.537000													152	165					6.23927e-63	8.99855e-63	1	1	0
OR2M4	26245	broad.mit.edu	37	1	248402644	248402644	+	Silent	SNP	G	G	T	rs148554812		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:248402644G>T	ENST00000306687.1	+	1	414	c.414G>T	c.(412-414)ccG>ccT	p.P138P		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGAATCCGAAACTCTGTG	0.483000													64	67					9.0599e-49	1.27305e-48	1	1	0
KPNA1	3836	broad.mit.edu	37	3	122156060	122156060	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:122156060C>G	ENST00000344337.6	-	11	1255	c.1079G>C	c.(1078-1080)tGg>tCg	p.W360S	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	360	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATCGTCCAACATGCTTC	0.358000													65	48					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185191022	185191022	+	Missense_Mutation	SNP	A	A	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:185191022A>C	ENST00000265026.3	+	11	2237	c.1903A>C	c.(1903-1905)Aat>Cat	p.N635H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.N491H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.N635H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.N428H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.N491H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	635					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATCACCATAATTCTCTGCA	0.522000													140	507					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171431716	171431716	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:171431716G>A	ENST00000356327.5	-	9	948	c.878C>T	c.(877-879)aCg>aTg	p.T293M	PLD1_ENST00000351298.4_Missense_Mutation_p.T293M|PLD1_ENST00000340989.4_Missense_Mutation_p.T293M|PLD1_ENST00000342215.6_Missense_Mutation_p.T293M	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	293	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCATATTTCGTTTCTGTCTC	0.338000													34	184					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124268592	124268592	+	Silent	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:124268592C>G	ENST00000409039.3	+	8	940	c.915C>G	c.(913-915)gtC>gtG	p.V305V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	305	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGAAAAGTCTTGGATGTGA	0.468000													29	82					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154131519	154131519	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:154131519G>A	ENST00000368531.2	-	8	680	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	TPM3_ENST00000469717.1_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000328159.4_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000323144.7_Missense_Mutation_p.L224F|TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron			P06753	TPM3_HUMAN	tropomyosin 3	260					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGGCTGTAGAGACGCTCTGCA	0.493000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								17	46					0	0	1	0	0
EVI5	7813	broad.mit.edu	37	1	93169023	93169023	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:93169023T>C	ENST00000370331.1	-	4	634	c.625A>G	c.(625-627)Act>Gct	p.T209A	EVI5_ENST00000543509.1_Missense_Mutation_p.T209A|EVI5_ENST00000540033.1_Missense_Mutation_p.T209A	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	209	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCAGGGTAAGTTCTAGCAATG	0.338000													21	90					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777678	18777678	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:18777678G>T	ENST00000380548.4	+	19	3790	c.3451G>T	c.(3451-3453)Ggg>Tgg	p.G1151W		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1151						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCCTCCACCGGGGACGCCGG	0.662000													23	15					1.85244e-09	2.03909e-09	1	1	0
MYH7	4625	broad.mit.edu	37	14	23888743	23888743	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:23888743G>T	ENST00000355349.3	-	28	3964	c.3802C>A	c.(3802-3804)Cgt>Agt	p.R1268S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1268					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGACAGAACGCTGGGTCTCC	0.577000													99	120					1.63549e-45	2.29073e-45	1	1	0
VRTN	55237	broad.mit.edu	37	14	74824665	74824665	+	Silent	SNP	G	G	T	rs143832135	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:74824665G>T	ENST00000256362.4	+	2	1420	c.1179G>T	c.(1177-1179)gcG>gcT	p.A393A		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	393					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCGCACTGGCGGTGTCAAGCC	0.617000													69	67					2.05175e-36	2.80193e-36	1	1	0
FAM86JP	100125556	broad.mit.edu	37	3	125643860	125643860	+	RNA	SNP	G	G	A	rs13063122	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:125643860G>A	ENST00000485843.1	+	0	384					NR_024251.1																						GTCCTGCTGAGGCTGGCTGCC	0.597000													5	92					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153525752	153525752	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:153525752C>T	ENST00000410080.1	-	16	2204	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	582	FF 3.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATGTGTTCTTCAAAGCAAATT	0.348000													11	9					0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	681421	681421	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:681421G>T	ENST00000166139.4	+	4	626	c.594G>T	c.(592-594)gcG>gcT	p.A198A	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	198	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTCGAGCGGCGCCCTGCCCTG	0.692000			T	CCND1	B-CLL								27	38					2.12542e-12	2.43143e-12	1	1	0
BTNL2	56244	broad.mit.edu	37	6	32372721	32372721	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:32372721A>G	ENST00000454136.3	-	2	426	c.422T>C	c.(421-423)gTa>gCa	p.V141A	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.V141A|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Missense_Mutation_p.V141A|BTNL2_ENST00000374993.1_Missense_Mutation_p.V141A			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	141						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TTCACCTGCTACTTTGAGCAG	0.443000													37	105					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870317	47870317	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:47870317C>A	ENST00000396105.1	-	11	3237	c.2991G>T	c.(2989-2991)aaG>aaT	p.K997N	ZNFX1_ENST00000371754.4_Missense_Mutation_p.K997N|ZNFX1_ENST00000371752.1_Missense_Mutation_p.K997N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	997							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGGCTCCACCTTCTGTAGGA	0.542000													158	223					7.16275e-52	1.01298e-51	1	1	0
KCND3	3752	broad.mit.edu	37	1	112525079	112525079	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:112525079C>T	ENST00000369697.1	-	1	339	c.270G>A	c.(268-270)gtG>gtA	p.V90V	KCND3_ENST00000302127.4_Silent_p.V90V|KCND3_ENST00000315987.2_Silent_p.V90V			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	90						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CGCAGCGGAACACCTCGGGGT	0.622000													79	92					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32884845	32884845	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:32884845C>T	ENST00000452533.2	+	12	1578	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.L485F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L485F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L269F|DNM1L_ENST00000547312.1_Missense_Mutation_p.L472F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L485F|DNM1L_ENST00000266481.6_Missense_Mutation_p.L472F|DNM1L_ENST00000549701.1_Missense_Mutation_p.L472F	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	472	Interaction with GSK3B.|Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTGTCTTCTTCGTAAAAG	0.323000													64	100					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805895	157805895	+	Silent	SNP	G	G	T	rs145458344		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:157805895G>T	ENST00000368174.4	-	3	202	c.106C>A	c.(106-108)Cgg>Agg	p.R36R	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	36	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.R36W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTCCACCCGCCCTTCACAG	0.632000													36	110					4.31865e-32	5.78911e-32	1	1	0
HTR2B	3357	broad.mit.edu	37	2	231988312	231988312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:231988312C>T	ENST00000258400.3	-	2	679	c.167G>A	c.(166-168)tGg>tAg	p.W56*	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	56					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAGAGCTGCCCAGTGCAGTTT	0.413000													40	94					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17716883	17716883	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:17716883C>A	ENST00000428389.2	-	45	5355	c.5356G>T	c.(5356-5358)Ggt>Tgt	p.G1786C	UNC13A_ENST00000552293.1_Missense_Mutation_p.G1692C|UNC13A_ENST00000551649.1_Missense_Mutation_p.G1717C|UNC13A_ENST00000550896.1_Missense_Mutation_p.G1671C|UNC13A_ENST00000519716.2_Missense_Mutation_p.G1698C|UNC13A_ENST00000252773.7_Missense_Mutation_p.G1698C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1698					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCGCGGCACCGCCCTCCTCG	0.736000													24	4					2.24059e-21	2.78957e-21	1	1	0
AC015849.16	0	broad.mit.edu	37	17	34236409	34236409	+	RNA	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:34236409C>T	ENST00000587132.1	-	0	1618																											AACTGTAACGCTAGGTGACAT	0.483000													14	61					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4712518	4712518	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:4712518C>T	ENST00000302640.8	+	19	2417	c.2067C>T	c.(2065-2067)agC>agT	p.S689S	ITPR1_ENST00000443694.2_Silent_p.S689S|ITPR1_ENST00000354582.6_Silent_p.S704S|ITPR1_ENST00000456211.2_Silent_p.S689S|ITPR1_ENST00000357086.4_Silent_p.S704S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Silent_p.S704S	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	704					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGGGACAGCAACAAAGAGA	0.507000													9	16					0	0	1	0	0
PMCHL2	5370	broad.mit.edu	37	5	70672153	70672153	+	RNA	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:70672153G>C	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							CAACGTTGCTGGCAAGTCTGA	0.353000													20	5					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680218	114680218	+	Missense_Mutation	SNP	G	G	T	rs117771236	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:114680218G>T	ENST00000393296.1	-	3	1047	c.970C>A	c.(970-972)Cgc>Agc	p.R324S	SYT6_ENST00000369547.1_Missense_Mutation_p.R239S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	324	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTCATGGCGGGAGAAGCGG	0.537000													43	56					1.00001e-27	1.30839e-27	1	1	0
ADAM2	2515	broad.mit.edu	37	8	39624673	39624673	+	Splice_Site	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:39624673A>G	ENST00000265708.4	-	13	1413	c.1311_splice	c.e13+1	p.L437_splice	ADAM2_ENST00000347580.4_Splice_Site_p.L418_splice|ADAM2_ENST00000379853.2_Splice_Site_p.L311_splice|ADAM2_ENST00000521880.1_Splice_Site_p.L437_splice	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGCTCTTACTAGACAGTTTTC	0.348000													445	78					0	0	1	0	0
NAT8	9027	broad.mit.edu	37	2	73868257	73868257	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:73868257C>G	ENST00000272425.3	-	2	648	c.499G>C	c.(499-501)Gac>Cac	p.D167H		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	167	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TAGCCCTGGTCCCGGGCAAAC	0.572000													36	38					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708207	36708207	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:36708207G>A	ENST00000264659.7	-	14	2866	c.2642C>T	c.(2641-2643)gCc>gTc	p.A881V	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A915V|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	753	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGTAAGAGAGGCTCCTTCAGC	0.622000													49	49					0	0	1	0	0
NMUR1	10316	broad.mit.edu	37	2	232390053	232390053	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:232390053C>A	ENST00000305141.4	-	3	1115	c.982G>T	c.(982-984)Gat>Tat	p.D328Y		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	328					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TGCAGGCCATCTGTCCACTGT	0.622000													41	44					2.05212e-20	2.51903e-20	1	1	0
CPB1	1360	broad.mit.edu	37	3	148562543	148562543	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:148562543C>G	ENST00000491148.1	+	9	1101	c.767C>G	c.(766-768)gCt>gGt	p.A256G	CPB1_ENST00000282957.4_Missense_Mutation_p.A256G			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	256					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AATTTTGATGCTGGTTGGTGT	0.388000													24	72					0	0	1	0	0
TMEM126B	55863	broad.mit.edu	37	11	85342768	85342768	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:85342768G>T	ENST00000534341.1	+	2	125	c.119G>T	c.(118-120)aGt>aTt	p.S40I	TMEM126B_ENST00000358867.6_Missense_Mutation_p.S40I|TMEM126B_ENST00000393375.1_Missense_Mutation_p.S10I			Q8IUX1	T126B_HUMAN	transmembrane protein 126B	40						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGTCAGCCCAGTCCTTCTCTA	0.343000													8	55					0.0477658	0.048207	1	1	0
TTN	7273	broad.mit.edu	37	2	179437770	179437770	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179437770G>T	ENST00000589042.1	-	326	73313	c.73089C>A	c.(73087-73089)gcC>gcA	p.A24363A	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.A15298A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A15423A|TTN_ENST00000591111.1_Silent_p.A22722A|TTN_ENST00000342992.6_Silent_p.A21795A|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.A15490A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22722	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTGGCAGGGCAATCTCAA	0.443000													12	33					2.80697e-09	3.08203e-09	1	1	0
SLC28A3	64078	broad.mit.edu	37	9	86909178	86909178	+	Missense_Mutation	SNP	C	C	T	rs139877702	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:86909178C>T	ENST00000376238.4	-	9	923	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	SLC28A3_ENST00000537648.1_Missense_Mutation_p.V223M	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	292					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAAAACCACGATCGGCAGG	0.498000													19	93					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73942611	73942611	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:73942611G>T	ENST00000276603.5	+	7	951	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C	TERF1_ENST00000276602.6_Intron	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	310	Interaction with RLIM.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			ATCCTCAGAGGGTACAGTATC	0.318000													29	17					4.74835e-14	5.47502e-14	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447677	63447677	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:63447677C>A	ENST00000322893.7	-	6	1123	c.855G>T	c.(853-855)agG>agT	p.R285S	KCNH5_ENST00000420622.2_Missense_Mutation_p.R285S|KCNH5_ENST00000394964.2_Missense_Mutation_p.R227S|KCNH5_ENST00000394968.1_Missense_Mutation_p.R227S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	285					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GATAGTTCATCCTTATGAGCT	0.413000													77	64					1.73232e-57	2.47393e-57	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29647330	29647330	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:29647330C>T	ENST00000323874.8	+	27	3949	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	PTPRU_ENST00000460170.2_Missense_Mutation_p.S1280F|PTPRU_ENST00000428026.2_Missense_Mutation_p.S1271F|PTPRU_ENST00000373779.3_Missense_Mutation_p.S1274F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S1280F|PTPRU_ENST00000345512.3_Missense_Mutation_p.S1284F			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1284	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGTCCAACTCCGCCTGGGTG	0.632000													45	23					0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240369	27240369	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:27240369G>T	ENST00000254227.3	-	1	88	c.63C>A	c.(61-63)ctC>ctA	p.L21L		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	21					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAAGTGCGTAGAGAATGGCGG	0.637000													45	25					1.83081e-24	2.33255e-24	1	1	0
NDRG3	57446	broad.mit.edu	37	20	35288785	35288785	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:35288785G>A	ENST00000373803.2	-	13	869	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NDRG3_ENST00000540765.1_Silent_p.V167V|NDRG3_ENST00000373773.3_Silent_p.V176V|NDRG3_ENST00000359675.2_Silent_p.V259V|NDRG3_ENST00000349004.1_Silent_p.V271V			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	271					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		p.V271V(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				AATTGCATTCGACCTAAAATT	0.353000													17	91					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811706	42811706	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:42811706G>T	ENST00000398600.2	+	10	1547	c.522G>T	c.(520-522)ctG>ctT	p.L174L	MX1_ENST00000455164.2_Silent_p.L174L|MX1_ENST00000398598.3_Silent_p.L174L|MX1_ENST00000288383.6_Silent_p.L151L	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	174					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TCCCGGATCTGACTCTAATAG	0.527000													53	171					4.44712e-29	5.85359e-29	1	1	0
ZNF252P	286101	broad.mit.edu	37	8	146224996	146224996	+	RNA	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:146224996G>C	ENST00000426361.2	-	0	237					NR_023392.1															endometrium(1)	1						TACCTAATGAGAGTAGGTTCC	0.587000													3	5					0	0	1	0	0
PMCHL2	5370	broad.mit.edu	37	5	70672154	70672154	+	RNA	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:70672154G>T	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							AACGTTGCTGGCAAGTCTGAT	0.358000													20	5					1.64113e-05	1.72398e-05	1	1	0
NTHL1	4913	broad.mit.edu	37	16	2094682	2094682	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:2094682C>G	ENST00000219066.1	-	3	516	c.498G>C	c.(496-498)caG>caC	p.Q166H		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	166					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CATCATCTGTCTGCAGGATGC	0.657000								Base excision repair (BER), DNA glycosylases					22	53					0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32260851	32260851	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:32260851C>G	ENST00000375015.4	-	26	1796	c.1596G>C	c.(1594-1596)aaG>aaC	p.K532N	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_Missense_Mutation_p.K533N|C6orf10_ENST00000527965.1_Missense_Mutation_p.K517N|C6orf10_ENST00000533191.1_Missense_Mutation_p.K531N|C6orf10_ENST00000375007.4_Missense_Mutation_p.K531N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	533	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ctgattctctctttcctttaa	0.348000													62	48					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39525925	39525925	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:39525925G>A	ENST00000251646.3	-	1	127	c.78C>T	c.(76-78)tgC>tgT	p.C26C		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	26	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGTAGCCGTGGCAGCTGGGGG	0.647000													18	83					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28493761	28493761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:28493761G>A	ENST00000261609.7	-	21	3280	c.3172C>T	c.(3172-3174)Caa>Taa	p.Q1058*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1058					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAAACGTTGAAAACGCAGT	0.383000													12	17					0	0	1	0	0
TRA2B	6434	broad.mit.edu	37	3	185638965	185638965	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:185638965G>T	ENST00000453386.2	-	6	924	c.649C>A	c.(649-651)Cgc>Agc	p.R217S	TRA2B_ENST00000382191.4_Missense_Mutation_p.R117S	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	217	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						TCCCGACGGCGAGAGCTGCCA	0.418000													52	32					2.17126e-26	2.81555e-26	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25449576	25449576	+	RNA	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:25449576G>A	ENST00000424208.1	+	0	2339				SNORD115-19_ENST00000363098.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						AAAGGATTATGCTGAGGCCCG	0.502000													59	112					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701218	143701218	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:143701218G>A	ENST00000408922.2	+	1	197	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTGAAAACGTGATCATCATCC	0.493000													18	65					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71006587	71006587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:71006587G>T	ENST00000396396.1	+	5	1064	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	PGM5_ENST00000396392.1_Nonsense_Mutation_p.E279*|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	279					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACTCTTCTGGAAGCAATGAA	0.488000													52	13					2.76378e-25	3.55228e-25	1	1	0
RAB39B	116442	broad.mit.edu	37	X	154490503	154490503	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:154490503C>T	ENST00000369454.3	-	2	527	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	76					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAGTAGGCGCGAGTGATGGA	0.428000													68	96					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20178507	20178507	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:20178507A>G	ENST00000263754.4	+	12	2278	c.1823A>G	c.(1822-1824)tAt>tGt	p.Y608C		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	608	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTCCTCACATATGCAGATGAA	0.378000													23	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417703	179417703	+	Missense_Mutation	SNP	G	G	C	rs117097948	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179417703G>C	ENST00000589042.1	-	335	90148	c.89924C>G	c.(89923-89925)gCc>gGc	p.A29975G	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A20910G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A21035G|TTN_ENST00000591111.1_Missense_Mutation_p.A28334G|TTN_ENST00000342992.6_Missense_Mutation_p.A27407G|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A21102G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28334	Ig-like 136.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTTGGTGGCATCTCTCTT	0.413000													10	39					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55321867	55321867	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:55321867C>A	ENST00000314644.2	+	1	85	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ACAAATTGATCTGAAGCAAAT	0.343000										HNSCC(20;0.049)			62	58					1.31171e-36	1.79691e-36	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156763447	156763447	+	Silent	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:156763447A>G	ENST00000537611.2	-	6	967	c.921T>C	c.(919-921)ttT>ttC	p.F307F		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	307						integral to membrane|plasma membrane											TGTAGCTGCTAAAATTCTGCA	0.403000													35	17					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49573539	49573539	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:49573539G>C	ENST00000371175.4	-	10	1243	c.1217C>G	c.(1216-1218)cCt>cGt	p.P406R	RHAG_ENST00000229810.7_3'UTR	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	406					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCGTCTTAGGGACCTTTAA	0.368000													23	80					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114569409	114569409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:114569409C>T	ENST00000375475.5	+	3	873	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	NXPE2_ENST00000389586.4_Nonsense_Mutation_p.Q259*					neurexophilin and PC-esterase domain family, member 2																		TGTGAGGCCTCAACATATGCC	0.468000													43	11					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101774432	101774432	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:101774432C>T	ENST00000506729.1	-	7	1336	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A327T|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A389T|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	389						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTGACAGAGCTAGGCATATG	0.294000													34	13					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799109	25799109	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:25799109C>A	ENST00000244527.4	-	12	1423	c.1308G>T	c.(1306-1308)atG>atT	p.M436I	SLC17A1_ENST00000476801.1_Missense_Mutation_p.M436I|SLC17A1_ENST00000468082.1_Missense_Mutation_p.M382I|SLC17A1_ENST00000427328.1_Missense_Mutation_p.M382I	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	436					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TAATGGCTGCCATCAGGATGA	0.368000													65	50					2.01871e-26	2.62553e-26	1	1	0
KTN1	3895	broad.mit.edu	37	14	56084834	56084834	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:56084834A>G	ENST00000416613.1	+	3	886	c.814A>G	c.(814-816)Aag>Gag	p.K272E	KTN1_ENST00000438792.2_Missense_Mutation_p.K272E|KTN1_ENST00000395314.3_Missense_Mutation_p.K272E|KTN1_ENST00000395309.3_Missense_Mutation_p.K272E|KTN1_ENST00000413890.2_Missense_Mutation_p.K272E|KTN1_ENST00000395308.1_Missense_Mutation_p.K272E|KTN1_ENST00000395311.1_Missense_Mutation_p.K272E			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	272					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TAAAAAACTGAAGACCGAAAC	0.358000			T	RET	papillary thryoid								27	115					0	0	1	0	0
HS1BP3	64342	broad.mit.edu	37	2	20824502	20824502	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:20824502T>C	ENST00000304031.3	-	5	799	c.774A>G	c.(772-774)tcA>tcG	p.S258S		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	258					cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCACGGATGACACGTCCT	0.647000													48	40					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428953	135428953	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:135428953G>A	ENST00000394143.1	+	6	3379	c.3088G>A	c.(3088-3090)Gag>Aag	p.E1030K	GPR112_ENST00000412101.1_Missense_Mutation_p.E825K|GPR112_ENST00000287534.4_Missense_Mutation_p.E967K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1030K|GPR112_ENST00000394141.1_Missense_Mutation_p.E825K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1030					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAGGAGACTGAGGTTACCAT	0.483000													164	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616722	179616722	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179616722G>T	ENST00000360870.5	-	46	10627	c.10405C>A	c.(10405-10407)Cgt>Agt	p.R3469S	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3474							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3469C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGCGTCACGTGTATCCCTT	0.353000													87	106					1.13884e-41	1.57492e-41	1	1	0
NIM1K	167359	broad.mit.edu	37	5	43280487	43280487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:43280487G>T	ENST00000512796.1	+	4	2466	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	NIM1_ENST00000326035.2_Nonsense_Mutation_p.E323*			Q8IY84	NIM1_HUMAN		323	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CATGAATGATGAATGGATGCA	0.522000													67	261					1.33661e-31	1.78623e-31	1	1	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538979	27538979	+	RNA	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:27538979T>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCTGTTGAATTGCTAAAGGTC	0.527000													39	107					0	0	1	0	0
SETMAR	6419	broad.mit.edu	37	3	4355245	4355245	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:4355245G>A	ENST00000358065.4	+	2	887	c.820G>A	c.(820-822)Gac>Aac	p.D274N	SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.D274N|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	261	Histone-lysine N-methyltransferase.|Post-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AGTCAGTGAAGACAAAGAAAG	0.408000								Chromatin Structure					34	35					0	0	1	0	0
TSPAN7	7102	broad.mit.edu	37	X	38530629	38530629	+	Splice_Site	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:38530629G>T	ENST00000378482.2	+	3	447		c.e3-1		TSPAN7_ENST00000488893.1_Splice_Site|TSPAN7_ENST00000286824.6_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|TSPAN7_ENST00000545599.1_Splice_Site|TSPAN7_ENST00000422612.2_Splice_Site	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7						interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTAATTTTCAGTATGCCATGT	0.438000													44	30					9.58827e-17	1.14171e-16	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140165959	140165959	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:140165959C>T	ENST00000504120.2	+	1	84	c.84C>T	c.(82-84)agC>agT	p.S28S	PCDHA1_ENST00000394633.3_Silent_p.S28S|PCDHA1_ENST00000378133.3_Silent_p.S28S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.632000													43	55					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25770505	25770505	+	Missense_Mutation	SNP	C	C	G	rs144232109		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:25770505C>G	ENST00000377905.4	+	4	627	c.508C>G	c.(508-510)Cgg>Ggg	p.R170G	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	170					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATTGTCCTCCGGATTGTACA	0.468000													49	139					0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731836	102731836	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:102731836G>T	ENST00000395923.1	-	4	481	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	NCALD_ENST00000311028.3_Missense_Mutation_p.L8M|NCALD_ENST00000220931.6_Missense_Mutation_p.L8M|NCALD_ENST00000522951.1_Missense_Mutation_p.L8M|NCALD_ENST00000519508.2_Missense_Mutation_p.L8M|NCALD_ENST00000521599.1_Missense_Mutation_p.L8M	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	neurocalcin delta	8					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			TCCGGGCGCAGCTTGCTGTTC	0.473000													51	145					3.50607e-19	4.23246e-19	1	1	0
ALDH3A2	224	broad.mit.edu	37	17	19555031	19555031	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:19555031G>A	ENST00000176643.6	+	2	771	c.325G>A	c.(325-327)Gga>Aga	p.G109R	ALDH3A2_ENST00000339618.4_Missense_Mutation_p.G109R|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.G109R|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.G109R|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.G109R			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	109					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	GCTGATAATCGGAGCTTGGAA	0.498000													82	174					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388993	20388993	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:20388993T>C	ENST00000315915.4	+	1	253	c.228T>C	c.(226-228)ttT>ttC	p.F76F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGCTTCTTTTGCTACCCCTA	0.418000													66	277					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38800188	38800188	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:38800188C>T	ENST00000310803.5	-	9	1158	c.981G>A	c.(979-981)atG>atA	p.M327I	RASGRP1_ENST00000450598.2_Missense_Mutation_p.M327I|RASGRP1_ENST00000558164.1_Missense_Mutation_p.M327I|RASGRP1_ENST00000559830.1_Missense_Mutation_p.M327I|RASGRP1_ENST00000539159.1_Missense_Mutation_p.M279I|RASGRP1_ENST00000561180.1_Missense_Mutation_p.M378I	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	327	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GCAGCTCAGTCATCTCACCGA	0.517000													5	7					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25115470	25115470	+	Missense_Mutation	SNP	C	C	T	rs138955897		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:25115470C>T	ENST00000332271.5	-	21	3034	c.2618G>A	c.(2617-2619)cGt>cAt	p.R873H	PIWIL3_ENST00000533313.1_Missense_Mutation_p.R755H|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R755H	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	873					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGACAAGGAACGATTCGGTTC	0.498000													36	66					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160730	58160730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:58160730G>C	ENST00000228606.4	-	1	304	c.95C>G	c.(94-96)tCa>tGa	p.S32*	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	32					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGGCGTGCTGAGTGGTACTC	0.642000													60	273					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438689	179438689	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179438689G>T	ENST00000589042.1	-	326	72394	c.72170C>A	c.(72169-72171)cCa>cAa	p.P24057Q	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14992Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15117Q|TTN_ENST00000591111.1_Missense_Mutation_p.P22416Q|TTN_ENST00000342992.6_Missense_Mutation_p.P21489Q|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15184Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22416							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGGAGGTGGGCGGCCTGA	0.403000													32	25					2.2171e-23	2.81649e-23	1	1	0
SLC6A17	388662	broad.mit.edu	37	1	110716699	110716699	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:110716699C>T	ENST00000331565.4	+	4	1034	c.549C>T	c.(547-549)gtC>gtT	p.V183V		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	183					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AATGTCCTGTCGTCAGGAATG	0.552000													56	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485225	179485225	+	Silent	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179485225C>G	ENST00000589042.1	-	248	46247	c.46023G>C	c.(46021-46023)gtG>gtC	p.V15341V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V6276V|TTN_ENST00000359218.5_Silent_p.V6401V|TTN_ENST00000591111.1_Silent_p.V13700V|TTN_ENST00000342992.6_Silent_p.V12773V|TTN_ENST00000342175.6_Silent_p.V6468V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13700	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTCAAAAGGCACTTCTTCAC	0.393000													43	42					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23873506	23873506	+	Splice_Site	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:23873506A>G	ENST00000405093.3	-	8	804	c.735_splice	c.e8+1	p.F245_splice	MYH6_ENST00000356287.3_Splice_Site_p.F245_splice	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	245	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGCACTCACAAAGCGGGAGGA	0.557000													81	137					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43277385	43277385	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:43277385C>T	ENST00000512796.1	+	3	2018	c.519C>T	c.(517-519)agC>agT	p.S173S	NIM1_ENST00000326035.2_Silent_p.S173S			Q8IY84	NIM1_HUMAN		173	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AACCAGAAAGCAAGCTCATCT	0.542000													25	180					0	0	1	0	0
APOPT1	84334	broad.mit.edu	37	14	104040453	104040453	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:104040453G>A	ENST00000409074.2	+	3	371	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.E124K|APOPT1_ENST00000556253.2_Missense_Mutation_p.E111K|APOPT1_ENST00000247618.4_Missense_Mutation_p.E111K	NM_032374.3	NP_115750.2			apoptogenic 1, mitochondrial																		GGAAAAAGAAGAATTTATTCA	0.343000													13	67					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402880	248402880	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:248402880C>A	ENST00000306687.1	+	1	650	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATCATACTTTCCTATTCCCAT	0.473000													38	46					3.33393e-15	3.90598e-15	1	1	0
CHRDL1	91851	broad.mit.edu	37	X	109924728	109924728	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:109924728C>T	ENST00000218054.4	-	10	1328	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443000													83	20					0	0	1	0	0
PBDC1	51260	broad.mit.edu	37	X	75397471	75397471	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:75397471G>T	ENST00000373358.3	+	6	633	c.430G>T	c.(430-432)Gcc>Tcc	p.A144S	PBDC1_ENST00000373357.3_Missense_Mutation_p.L106F	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1																		ACAATTCTTTGCCATTGAAAT	0.403000													11	68					5.50884e-06	5.81488e-06	1	1	0
RIF1	55183	broad.mit.edu	37	2	152322188	152322188	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:152322188G>A	ENST00000243326.4	+	29	6637	c.6154G>A	c.(6154-6156)Gat>Aat	p.D2052N	RIF1_ENST00000444746.2_Missense_Mutation_p.D2052N|RIF1_ENST00000430328.2_Missense_Mutation_p.D2052N|RIF1_ENST00000428287.2_Missense_Mutation_p.D2052N|RIF1_ENST00000453091.2_Missense_Mutation_p.D2052N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2052	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTCAAAGCCTGATGAAGCTGA	0.403000													15	37					0	0	1	0	0
MIR29B1	407024	broad.mit.edu	37	7	130562234	130562234	+	RNA	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:130562234T>C	ENST00000447430.1	+	0	156				MIR29B1_ENST00000385015.1_RNA																							AGAACACTGATTTCAAATGGT	0.408000													93	60					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379334	114379334	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:114379334A>T	ENST00000312719.5	-	5	1316	c.128T>A	c.(127-129)aTt>aAt	p.I43N	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.I43N			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	43					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCGACCTTCAATGGGGCAAAT	0.527000													12	15					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25523021	25523021	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:25523021C>T	ENST00000264709.3	-	3	501	c.164G>A	c.(163-165)cGc>cAc	p.R55H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R55H|DNMT3A_ENST00000406659.3_Missense_Mutation_p.R55H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	55					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGTGCTTGCGCTTCCTCCC	0.647000			"""Mis, F, N, S"""		AML								32	25					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389061	4389061	+	Silent	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:4389061A>G	ENST00000408920.2	-	1	555	c.465T>C	c.(463-465)taT>taC	p.Y155Y		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATTGTACCATAACTTCTCA	0.363000													20	66					0	0	1	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353000													5	20					8.12818e-05	8.3774e-05	1	1	0
SOX11	6664	broad.mit.edu	37	2	5833051	5833051	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:5833051G>T	ENST00000322002.3	+	1	253	c.198G>T	c.(196-198)aaG>aaT	p.K66N		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	66					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AACGCAGGAAGATCATGGAGC	0.587000													26	24					1.55469e-16	1.8412e-16	1	1	0
CORIN	10699	broad.mit.edu	37	4	47765474	47765474	+	Missense_Mutation	SNP	C	C	T	rs146275416		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:47765474C>T	ENST00000273857.4	-	4	538	c.539G>A	c.(538-540)cGc>cAc	p.R180H	CORIN_ENST00000508498.1_Missense_Mutation_p.R41H|CORIN_ENST00000502252.1_Missense_Mutation_p.R113H|CORIN_ENST00000505909.1_Missense_Mutation_p.R180H|CORIN_ENST00000504584.1_Missense_Mutation_p.R180H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	180	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCAACTGAGGCGATGGAGATA	0.473000													8	52					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606379	55606379	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:55606379T>C	ENST00000378396.1	+	1	152	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ATAGTGATCATCAAAATTAAC	0.438000													52	150					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49894164	49894164	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:49894164G>A	ENST00000447857.3	+	2	229	c.24G>A	c.(22-24)gtG>gtA	p.V8V	CCDC155_ENST00000593725.1_3'UTR	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	8						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AGGGCCCGGTGGGTGGCCCCA	0.672000													24	7					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71211467	71211467	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:71211467G>T	ENST00000260382.5	+	7	906	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	LRRC49_ENST00000443425.2_Missense_Mutation_p.D172Y|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.D221Y|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.D206Y	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	216						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGTCATGTTGATAATCTTAA	0.318000													30	64					2.4375e-19	2.95066e-19	1	1	0
ACTN2	88	broad.mit.edu	37	1	236894571	236894571	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:236894571C>T	ENST00000366578.4	+	7	820	c.654C>T	c.(652-654)atC>atT	p.I218I	ACTN2_ENST00000542672.1_Silent_p.I218I|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	218	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCATGGAAATCGCTGAGAAGC	0.348000													29	79					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867698	6867698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:6867698G>A	ENST00000299454.4	+	1	816	c.785G>A	c.(784-786)tGg>tAg	p.W262*	OR10A5_ENST00000379831.2_Nonsense_Mutation_p.W266*			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	262				W -> R (in Ref. 4; AAC70019).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCTACTTCTGGCCTAAATCA	0.413000													108	110					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712709	70712709	+	RNA	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:70712709C>T	ENST00000530196.1	-	0	1809					NR_003951.1																						CAAAAGACATCAGAGATATGA	0.393000													36	188					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907829	65907829	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:65907829G>A	ENST00000321892.4	+	13	4268	c.4207G>A	c.(4207-4209)Gga>Aga	p.G1403R	BPTF_ENST00000306378.6_Missense_Mutation_p.G1277R|BPTF_ENST00000424123.3_Missense_Mutation_p.G1264R|BPTF_ENST00000335221.5_Missense_Mutation_p.G1403R			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1403					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGACTTTGAAGGAAAACTGGG	0.398000													98	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592853	179592853	+	Silent	SNP	G	G	T	rs72648956	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:179592853G>T	ENST00000589042.1	-	67	19922	c.19698C>A	c.(19696-19698)ggC>ggA	p.G6566G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.G6249G|TTN_ENST00000342992.6_Silent_p.G5322G|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6249	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTAAGATGCCACTGCATG	0.373000													6	19					0.0215528	0.0218022	1	1	0
TAF3	83860	broad.mit.edu	37	10	8006476	8006476	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:8006476G>C	ENST00000344293.5	+	3	1209	c.1003G>C	c.(1003-1005)Gtg>Ctg	p.V335L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	335					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CCAAACACCTGTGAGACCTGA	0.473000													11	32					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89717708	89717708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:89717708C>T	ENST00000371953.3	+	7	2090	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	245	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Q245*(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAGTTCCCTCAGCCGTTACC	0.418000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			81	17					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227661749	227661749	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:227661749G>A	ENST00000305123.4	-	1	2726	c.1706C>T	c.(1705-1707)cCg>cTg	p.P569L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	569					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTGTGTCCCGGCAGTCGGCC	0.657000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	61					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	403381	403381	+	Splice_Site	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:403381G>C	ENST00000256509.2	+	13	1948		c.e13-1		CHL1_ENST00000397491.2_Splice_Site	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like						axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTTCAAATAGATGTCCGTCC	0.353000													62	62					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734414	28734414	+	RNA	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:28734414C>G	ENST00000550043.1	+	0	819																											CACTGAAGAGCTGTTAGATCC	0.413000													12	20					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988558	13988558	+	Nonsense_Mutation	SNP	C	C	T	rs148122339	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:13988558C>T	ENST00000397555.2	+	2	439	c.439C>T	c.(439-441)Cga>Tga	p.R147*	NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Nonsense_Mutation_p.R166*	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			AGGCCACCGCCGAGGAGGAGG	0.642000													4	16					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763908	140763908	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:140763908G>T	ENST00000518325.1	+	1	1442	c.1442G>T	c.(1441-1443)aGt>aTt	p.S481I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCACGACAGTGAGGATAAT	0.537000													56	16					2.43277e-16	2.8733e-16	1	1	0
LMBRD2	92255	broad.mit.edu	37	5	36143449	36143449	+	Translation_Start_Site	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:36143449C>T	ENST00000296603.4	-	2	465	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	1						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCACCACTCATTATTGAAT	0.343000													24	69					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395127	94395127	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:94395127G>C	ENST00000267594.5	+	3	989	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	FAM181A_ENST00000557000.2_Missense_Mutation_p.E166Q|FAM181A_ENST00000556222.1_Missense_Mutation_p.E166Q|FAM181A_ENST00000557719.1_Missense_Mutation_p.E166Q	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	228										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						ACCTCCCTATGAGGGTAAGAA	0.612000													16	51					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122071337	122071337	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:122071337G>C	ENST00000454328.1	-	8	757	c.530C>G	c.(529-531)tCc>tGc	p.S177C	TNIP3_ENST00000057513.3_Missense_Mutation_p.S177C|TNIP3_ENST00000507879.1_Missense_Mutation_p.S247C|TNIP3_ENST00000509841.1_Missense_Mutation_p.S254C			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	177										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAGTCCTCGGAAAATGAACA	0.408000													35	12					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383937	12383937	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:12383937G>A	ENST00000356109.5	-	5	1395	c.1277C>T	c.(1276-1278)tCa>tTa	p.S426L	ZNF44_ENST00000355684.5_Missense_Mutation_p.S378L	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCGAAAGCTTGAGCGATGAGA	0.423000													107	16					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405087	105405087	+	Silent	SNP	C	C	G	rs35670436		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:105405087C>G	ENST00000351513.2	-	8	1500	c.1368G>C	c.(1366-1368)acG>acC	p.T456T	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	456					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.T456T(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CATCTCCTGCCGTGACACTGA	0.468000													130	261					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890566	55890566	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:55890566A>T	ENST00000313472.3	+	1	718	c.718A>T	c.(718-720)Act>Tct	p.T240S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGCTTTCTCTACTTGCGTCTC	0.398000													38	59					0	0	1	0	0
BLVRB	645	broad.mit.edu	37	19	40964064	40964064	+	Missense_Mutation	SNP	G	G	A	rs149698066	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:40964064G>A	ENST00000263368.4	-	3	483	c.332C>T	c.(331-333)tCg>tTg	p.S111L	BLVRB_ENST00000595483.1_Missense_Mutation_p.S111L	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	111					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	CCACCCACCCGAGGTGCAGGC	0.622000													3	30					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100349	107100349	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:107100349G>T	ENST00000369046.4	+	7	845	c.741G>T	c.(739-741)ctG>ctT	p.L247L	QRSL1_ENST00000369044.1_Silent_p.L247L	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	247					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CAGGTGCACTGGCCGGACCTG	0.383000													15	46					1.05317e-09	1.16221e-09	1	1	0
FBXL3	26224	broad.mit.edu	37	13	77595702	77595702	+	Silent	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:77595702C>G	ENST00000355619.5	-	2	618	c.294G>C	c.(292-294)ctG>ctC	p.L98L		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	98					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTGTTTGATCAGCTCTGGAT	0.333000													34	6					0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729606	110729606	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:110729606G>A	ENST00000368924.3	-	3	311	c.296C>T	c.(295-297)aCc>aTc	p.T99I	DDO_ENST00000368925.1_Missense_Mutation_p.T71I|DDO_ENST00000368923.3_Missense_Mutation_p.T99I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	71					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GTGATTAAAGGTTTCTCTGAA	0.393000													23	48					0	0	1	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033372	134033372	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:134033372T>A	ENST00000370783.3	-	2	278	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	MOSPD1_ENST00000370777.1_Missense_Mutation_p.Q31L|MOSPD1_ENST00000370779.4_Missense_Mutation_p.Q31L|MOSPD1_ENST00000491609.1_5'UTR	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	31	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ATGTGTTGACTGATCATCTGC	0.408000													79	25					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566770	20566770	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:20566770C>A	ENST00000329697.6	-	4	585	c.417G>T	c.(415-417)caG>caT	p.Q139H	ACSM2B_ENST00000414188.2_Missense_Mutation_p.Q139H|ACSM2B_ENST00000567001.1_Missense_Mutation_p.Q139H|ACSM2B_ENST00000565232.1_Missense_Mutation_p.Q139H|ACSM2B_ENST00000565322.1_Missense_Mutation_p.Q60H	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	139					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGATTTCATCTGGATGGTTC	0.433000													43	49					1.00776e-21	1.25826e-21	1	1	0
NOS2	4843	broad.mit.edu	37	17	26094769	26094769	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:26094769C>A	ENST00000313735.6	-	18	2362	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	710					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGCACGAGCCTGTAGTGGTG	0.562000													22	21					2.89027e-11	3.27214e-11	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32217522	32217522	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:32217522G>C	ENST00000400246.1	+	23	2047	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.Q635H|DEPDC5_ENST00000382112.3_Missense_Mutation_p.Q635H|DEPDC5_ENST00000400248.1_Missense_Mutation_p.Q635H|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.Q635H|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Missense_Mutation_p.Q635H			O75140	DEPD5_HUMAN	DEP domain containing 5	635					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCACCACCAGACCCGACAGA	0.527000													54	111					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7756561	7756561	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:7756561G>A	ENST00000254846.5	+	22	5160	c.4771G>A	c.(4771-4773)Gag>Aag	p.E1591K	KDM6B_ENST00000448097.2_Missense_Mutation_p.E1591K	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1591					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGTGACAAGTGAGAATGGCAG	0.647000													23	2					0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802670	31802670	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:31802670C>A	ENST00000334068.2	+	1	99	c.77C>A	c.(76-78)cCc>cAc	p.P26H		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	26						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						GGCTCCTACCCCAGCAGCCTG	0.597000													115	92					2.21805e-50	3.12673e-50	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1890335	1890335	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:1890335A>G	ENST00000399161.2	-	18	3434	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P	MYT1L_ENST00000428368.2_Missense_Mutation_p.L894P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	896					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTGGTGGCCAGCATACTTCG	0.453000													14	35					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56147389	56147389	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:56147389C>T	ENST00000342190.6	+	8	902	c.902C>T	c.(901-903)tCg>tTg	p.S301L	SUMF2_ENST00000275607.9_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000395436.2_3'UTR|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000434526.2_3'UTR	NM_001130069.2	NP_001123541.1	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	0						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATTCCAAGCTCGAGAGCTTCA	0.587000											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	25					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67346715	67346715	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:67346715G>A	ENST00000478722.1	+	5	1474	c.353G>A	c.(352-354)gGa>gAa	p.G118E	GPHN_ENST00000543237.1_Missense_Mutation_p.G131E|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Missense_Mutation_p.G100E|GPHN_ENST00000315266.5_Missense_Mutation_p.G118E|GPHN_ENST00000305960.9_Missense_Mutation_p.G87E	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	118	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGCTGATGGGATCACTTAAT	0.418000			T	MLL	AL								31	70					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160510170	160510170	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:160510170A>G	ENST00000356956.1	+	43	6500	c.6352A>G	c.(6352-6354)Agc>Ggc	p.S2118G		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2118					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTACTACTTCAGCTGGGACTC	0.547000											OREG0017769	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	16					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728224	152728224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:152728224G>T	ENST00000367255.5	-	45	7249	c.6648C>A	c.(6646-6648)tgC>tgA	p.C2216*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.C2216*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.C2223*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.C2223*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.C2253*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2216					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGGAACGCAGTTGTTTG	0.423000										HNSCC(10;0.0054)			21	72					3.62473e-10	4.03055e-10	1	1	0
GNAI3	2773	broad.mit.edu	37	1	110134755	110134755	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:110134755A>T	ENST00000369851.4	+	8	1075	c.965A>T	c.(964-966)cAc>cTc	p.H322L		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	322					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		ATCTATACTCACTTCACCTGT	0.378000													53	52					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407467	77407467	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:77407467G>A	ENST00000560626.2	-	7	4747	c.4272C>T	c.(4270-4272)gaC>gaT	p.D1424D	PEAK1_ENST00000312493.4_Silent_p.D1424D			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1424	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D1424D(2)									CTCCTTTGGCGTCTTCTTCAG	0.507000													43	85					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167512521	167512521	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:167512521C>T	ENST00000295777.5	+	5	1221	c.790C>T	c.(790-792)Ctt>Ttt	p.L264F	SERPINI1_ENST00000446050.2_Missense_Mutation_p.L264F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	264					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGAAGTTCCTCTTGCTACTCT	0.453000													23	91					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232337	25232337	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:25232337A>G	ENST00000354454.3	+	7	906	c.77A>G	c.(76-78)tAt>tGt	p.Y26C	LRMP_ENST00000547044.1_Missense_Mutation_p.Y26C|LRMP_ENST00000548766.1_Missense_Mutation_p.Y26C	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	82					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GGCAGGGAATATTCCTCACTA	0.348000													33	159					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625608	140625608	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:140625608G>T	ENST00000231173.3	+	1	462	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		154	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCCTCTGAAAAAAGCTC	0.443000													106	26					3.99045e-58	5.71746e-58	1	1	0
F9	2158	broad.mit.edu	37	X	138643872	138643872	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:138643872A>T	ENST00000218099.2	+	8	1035	c.1028A>T	c.(1027-1029)aAc>aTc	p.N343I	F9_ENST00000394090.2_Missense_Mutation_p.N305I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	343	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAATACACGAACATCTTCCTC	0.433000													109	31					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627165	31627165	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:31627165T>A	ENST00000349552.1	+	10	913	c.913T>A	c.(913-915)Tat>Aat	p.Y305N		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	305						extracellular region	lipid binding										GGCTGTAGCTTATCCCAAGTC	0.507000													76	131					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34242054	34242054	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:34242054C>G	ENST00000536252.1	+	5	1429	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C	UBAP1_ENST00000297661.4_Missense_Mutation_p.S344C|UBAP1_ENST00000543944.1_Missense_Mutation_p.S380C|UBAP1_ENST00000545103.1_Missense_Mutation_p.S408C|UBAP1_ENST00000379186.4_Missense_Mutation_p.S344C|UBAP1_ENST00000540348.1_Missense_Mutation_p.S344C|UBAP1_ENST00000359544.2_Missense_Mutation_p.S344C	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	344						cytoplasm		p.S408C(1)|p.S344C(1)		endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CCTTCCCTCTCTGTTTTGTCT	0.507000													135	29					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920356	51920356	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:51920356C>T	ENST00000353836.5	-	2	622	c.401G>A	c.(400-402)gGg>gAg	p.G134E	SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G134E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G134E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G134E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G134E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G134E|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G134E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G134E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G134E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	134				G -> R (in Ref. 4; AAK51124).	cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TAGAAAGAACCCATCGTTCAT	0.527000													44	24					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139915013	139915013	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:139915013C>G	ENST00000297183.6	+	30	7041	c.6917C>G	c.(6916-6918)tCc>tGc	p.S2306C	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2306C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2306C|ANKHD1_ENST00000544120.1_Intron	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGTTTTTCCGGCATACCA	0.502000													41	66					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115466	61115466	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:61115466A>G	ENST00000247182.6	-	1	714	c.442T>C	c.(442-444)Tac>Cac	p.Y148H	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	148					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGCGATGGGTAGGGATTGTGC	0.637000													13	219					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468060	56468060	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:56468060C>A	ENST00000312153.1	+	1	197	c.197C>A	c.(196-198)tCg>tAg	p.S66*		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GGAAATCTGTCGTTTCTGGAT	0.468000													26	43					6.2361e-21	7.67656e-21	1	1	0
PRKAA1	5562	broad.mit.edu	37	5	40767653	40767653	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:40767653G>C	ENST00000397128.2	-	6	744	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	PRKAA1_ENST00000354209.3_Missense_Mutation_p.Q261E	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	246	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTTAAATATTGAGGGGTATAG	0.378000													29	68					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95541397	95541397	+	Missense_Mutation	SNP	A	A	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:95541397A>C	ENST00000295201.4	+	5	1138	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	334					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						ATCAAGGACAAAGAGGCACCT	0.622000													27	73					0	0	1	0	0
CD81	975	broad.mit.edu	37	11	2417125	2417125	+	Silent	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:2417125G>C	ENST00000263645.5	+	6	742	c.486G>C	c.(484-486)ctG>ctC	p.L162L	CD81_ENST00000526072.1_Silent_p.L91L|CD81_ENST00000481687.1_Silent_p.L168L|CD81_ENST00000381036.3_Silent_p.L200L|CD81_ENST00000524805.1_3'UTR|CD81_ENST00000492627.1_Silent_p.L91L	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	162					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGCACACTGACTGCTTTGA	0.617000													19	59					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405930	68405930	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:68405930G>T	ENST00000219334.5	-	3	758	c.155C>A	c.(154-156)cCg>cAg	p.P52Q	SMPD3_ENST00000568373.1_Missense_Mutation_p.P52Q|SMPD3_ENST00000563226.1_Missense_Mutation_p.P52Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	52					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGGCAGCACGGGTCGTCTGC	0.632000													15	1					6.72482e-11	7.57409e-11	1	1	0
LRRK1	79705	broad.mit.edu	37	15	101605805	101605805	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:101605805G>A	ENST00000284395.5	+	33	5554	c.5154G>A	c.(5152-5154)ctG>ctA	p.L1718L	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000388948.3_Silent_p.L1721L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1721					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCCTCCCTGGAGATCTGCA	0.632000													26	73					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522773	23522773	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:23522773C>A	ENST00000296682.3	+	8	843	c.661C>A	c.(661-663)Ccc>Acc	p.P221T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	221					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGCCCATGGGCCCCCTACATT	0.532000										HNSCC(3;0.000094)			19	100					4.96729e-08	5.33343e-08	1	1	0
BAI1	575	broad.mit.edu	37	8	143561104	143561104	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:143561104G>C	ENST00000517894.1	+	9	2671	c.1777G>C	c.(1777-1779)Gag>Cag	p.E593Q	BAI1_ENST00000323289.5_Missense_Mutation_p.E593Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	593					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GATCTGGAAGGAGACCCCAGC	0.642000													36	117					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135047737	135047737	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:135047737G>A	ENST00000541284.1	-	12	2372	c.2042C>T	c.(2041-2043)tCc>tTc	p.S681F	CNOT4_ENST00000423368.2_Missense_Mutation_p.S610F|CNOT4_ENST00000451834.1_Missense_Mutation_p.S678F|CNOT4_ENST00000361528.4_Missense_Mutation_p.S607F	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	352					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGAAGCTGGAAGGGTTTGA	0.582000													79	192					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751683	76751683	+	Silent	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:76751683C>A	ENST00000369950.3	-	2	417	c.228G>T	c.(226-228)acG>acT	p.T76T	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	76					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTTTAACCCCCGTTGGGAAAA	0.368000													28	83					3.73988e-18	4.50228e-18	1	1	0
PSD3	23362	broad.mit.edu	37	8	18513162	18513162	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:18513162C>G	ENST00000440756.2	-	10	2314	c.2212G>C	c.(2212-2214)Gaa>Caa	p.E738Q	PSD3_ENST00000523619.1_Missense_Mutation_p.E671Q|PSD3_ENST00000327040.8_Missense_Mutation_p.E736Q|PSD3_ENST00000286485.8_Missense_Mutation_p.E202Q|PSD3_ENST00000428502.2_Missense_Mutation_p.E65Q			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	737					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACTGCCCATTCAAGCTTCTCA	0.373000													27	14					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277280	131277280	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:131277280C>T	ENST00000337057.3	-	2	527	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	EPB41L2_ENST00000392427.3_Missense_Mutation_p.E116K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E116K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E116K|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E116K|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E116K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	116					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAAGGGGTTCCTCTTTATCT	0.413000													64	171					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227287	43227287	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:43227287G>C	ENST00000332499.2	+	1	2604	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	244	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTTCATGGAAGAAGGGGGTGA	0.627000													45	60					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559566	129559566	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:129559566G>T	ENST00000422113.2	-	9	2480	c.2154C>A	c.(2152-2154)ggC>ggA	p.G718G	TMEM132D_ENST00000389441.4_Silent_p.G256G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	718						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCGTGACTGAGCCATCACTGA	0.458000													26	46					6.07407e-21	7.54082e-21	1	1	0
CHL1	10752	broad.mit.edu	37	3	404988	404988	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:404988G>A	ENST00000256509.2	+	14	2149	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	CHL1_ENST00000397491.2_Missense_Mutation_p.E487K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	487	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACCACCGAAGAAGATGCTGG	0.418000													49	45					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569481	51569481	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:51569481G>A	ENST00000522124.1	+	14	1523	c.862G>A	c.(862-864)Ggc>Agc	p.G288S	SNTG1_ENST00000518864.1_Missense_Mutation_p.G288S|SNTG1_ENST00000517473.1_Missense_Mutation_p.G288S|SNTG1_ENST00000276467.5_Missense_Mutation_p.G288S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	288	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGTCTACATGGGCTGGTGTGA	0.428000													22	105					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101054145	101054145	+	Splice_Site	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:101054145C>A	ENST00000360863.6	-	12	2018		c.e12-1		RGS22_ENST00000523287.1_Splice_Site|RGS22_ENST00000523437.1_Splice_Site	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22						negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTACTTTGACCTAAATTATAA	0.338000													42	27					8.16904e-11	9.17705e-11	1	1	0
ZNF773	374928	broad.mit.edu	37	19	58018249	58018249	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:58018249C>T	ENST00000282292.4	+	4	926	c.786C>T	c.(784-786)ctC>ctT	p.L262L	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Silent_p.L261L|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGCTGACCTCATTCAACACC	0.423000													95	31					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806511	97806511	+	Silent	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:97806511A>T	ENST00000358642.2	+	1	495	c.495A>T	c.(493-495)ctA>ctT	p.L165L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGAGTTTACTATTGCGACTAA	0.358000													57	137					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801339	185801339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:185801339G>T	ENST00000302277.6	+	4	1810	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	406						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAATACTGAAGAGGTTAACAT	0.388000													60	44					1.45723e-30	1.92972e-30	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135254009	135254009	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:135254009G>C	ENST00000265605.2	-	5	822	c.754C>G	c.(754-756)Ctg>Gtg	p.L252V	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L252V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L202V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	252				L -> P (in Ref. 3; BAD96568).	retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCAGCTCCAGGGAGAGCTTT	0.617000													68	50					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57346650	57346650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:57346650C>A	ENST00000398138.3	-	3	1553	c.697G>T	c.(697-699)Gag>Tag	p.E233*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	233					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCCTTGACCTCTGGACTGGAC	0.507000													48	122					1.19451e-25	1.53983e-25	1	1	0
EP300	2033	broad.mit.edu	37	22	41573426	41573426	+	Missense_Mutation	SNP	A	A	C	rs140187237		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:41573426A>C	ENST00000263253.7	+	31	6930	c.5711A>C	c.(5710-5712)cAg>cCg	p.Q1904P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1904					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|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	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Q1904P(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						GCAGCAGGCCAGGTGACCCCT	0.627000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				5	83					0	0	1	0	0
FGF22	27006	broad.mit.edu	37	19	643539	643539	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:643539C>T	ENST00000215530.5	+	3	479	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	FGF22_ENST00000166133.3_Missense_Mutation_p.R109W|FGF22_ENST00000586042.2_Missense_Mutation_p.P142L	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	150					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity	p.R150W(1)		endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		gggggggccccggccaggcgg	0.736000													12	49					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885650	144885650	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:144885650G>A	ENST00000356994.2	-	24	3512	c.3506C>T	c.(3505-3507)aCg>aTg	p.T1169M	SCRIB_ENST00000377533.3_Missense_Mutation_p.T1088M|SCRIB_ENST00000320476.3_Missense_Mutation_p.T1169M	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1169	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCGCCGTGCGTCAGGCCCAG	0.701000													10	51					0	0	1	0	0
CARD18	59082	broad.mit.edu	37	11	105009606	105009606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:105009606G>T	ENST00000530950.1	-	2	206	c.207C>A	c.(205-207)tgC>tgA	p.C69*	CARD18_ENST00000526823.1_Nonsense_Mutation_p.C30*|CARD18_ENST00000532895.1_Nonsense_Mutation_p.C30*	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	69	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						TAAATTTGCAGCAAGACTTGG	0.423000													142	85					4.1726e-86	6.03784e-86	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16012211	16012211	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:16012211G>A	ENST00000268712.3	-	19	2328	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	NCOR1_ENST00000395848.1_Missense_Mutation_p.R582C|NCOR1_ENST00000395851.1_Missense_Mutation_p.R691C|NCOR1_ENST00000583226.1_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	691					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGCTCTTCACGAGGTTTTCGT	0.343000													98	23					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200245205	200245205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:200245205G>T	ENST00000443023.1	-	4	1767	c.302C>A	c.(301-303)tCa>tAa	p.S101*	SATB2_ENST00000457245.1_Nonsense_Mutation_p.S160*|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000417098.1_Nonsense_Mutation_p.S160*|SATB2_ENST00000260926.5_Nonsense_Mutation_p.S160*|SATB2_ENST00000484124.1_5'UTR			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCAACTTTGAACAACTGCA	0.483000													54	40					4.1673e-28	5.4688e-28	1	1	0
ZNF683	257101	broad.mit.edu	37	1	26688623	26688623	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:26688623G>A	ENST00000436292.1	-	6	1307	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	ZNF683_ENST00000374204.1_Intron|ZNF683_ENST00000403843.1_Missense_Mutation_p.A396V|ZNF683_ENST00000349618.3_Intron			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TTCCCTCCAGGCCTGGAAGCT	0.517000													24	8					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201024	71201024	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:71201024A>G	ENST00000273936.4	+	1	327	c.268A>G	c.(268-270)Act>Gct	p.T90A		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	90						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAAGTCAACAACTCACCTACA	0.368000													28	67					0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46403644	46403644	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:46403644G>T	ENST00000405308.2	+	2	466	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S	MDK_ENST00000395566.4_Missense_Mutation_p.A13S|MDK_ENST00000533283.1_Intron|MDK_ENST00000407067.1_Missense_Mutation_p.A13S|MDK_ENST00000359803.3_Missense_Mutation_p.A13S|MDK_ENST00000395565.1_Missense_Mutation_p.A13S|MDK_ENST00000395569.4_Missense_Mutation_p.A13S	NM_001270550.1	NP_001257479.1	P21741	MK_HUMAN	midkine (neurite growth-promoting factor 2)	13					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		CACCCTCCTCGCCCTGCTGGC	0.687000													10	17					0.000978159	0.000998728	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26127951	26127951	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:26127951G>T	ENST00000381655.2	+	12	1220	c.1078G>T	c.(1078-1080)Gga>Tga	p.G360*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.G320*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	320					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATAATTTTGGATACAACCT	0.383000													80	42					2.13026e-44	2.96473e-44	1	1	0
XYLT1	64131	broad.mit.edu	37	16	17202776	17202776	+	Missense_Mutation	SNP	C	C	A	rs143481827	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:17202776C>A	ENST00000261381.6	-	12	2740	c.2656G>T	c.(2656-2658)Gcc>Tcc	p.A886S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	886					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCACCTGGGCGGGGTTGATG	0.637000													33	53					6.53348e-20	7.97522e-20	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34164388	34164388	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:34164388C>G	ENST00000373381.4	-	24	4066	c.3890G>C	c.(3889-3891)cGc>cCc	p.R1297P	CSMD2_ENST00000373380.1_Missense_Mutation_p.R170P|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1257	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGGTCCGGCGCTCTCCACT	0.597000													47	25					0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384543	62384543	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:62384543C>T	ENST00000531383.1	-	3	740	c.534G>A	c.(532-534)gaG>gaA	p.E178E	B3GAT3_ENST00000534026.1_Silent_p.E178E|B3GAT3_ENST00000265471.5_Silent_p.E178E			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	178					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GTGGGTCCTTCTCCCCACCCA	0.642000													100	80					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75156820	75156820	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:75156820G>C	ENST00000342232.4	-	4	1889	c.1849C>G	c.(1849-1851)Cca>Gca	p.P617A	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	617					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GGATTCTTTGGTATAGCAAGT	0.433000													222	182					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190697	6190697	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:6190697G>T	ENST00000530810.1	-	1	941	c.860C>A	c.(859-861)cCa>cAa	p.P287Q	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCAGCATTGGTGGCACTGC	0.463000													40	24					4.67007e-22	5.86442e-22	1	1	0
MSMB	4477	broad.mit.edu	37	10	51556790	51556790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:51556790C>A	ENST00000358559.2	+	3	236	c.149C>A	c.(148-150)tCg>tAg	p.S50*	MSMB_ENST00000298239.6_Intron|MSMB_ENST00000474170.1_3'UTR	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	50						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						CCAATAAACTCGGAGTGGCAG	0.448000													16	42					6.94344e-10	7.68173e-10	1	1	0
LIN37	55957	broad.mit.edu	37	19	36244975	36244975	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:36244975C>T	ENST00000301159.9	+	7	866	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977.1	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	168	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCACCCACACCCCCGGGGCC	0.627000													59	56					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120197694	120197694	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:120197694C>T	ENST00000019103.5	-	13	1589	c.1322G>A	c.(1321-1323)tGa>tAa	p.*441*		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	0					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TCCAGCCTCTCAGATGATGCT	0.632000													10	27					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643369	37643369	+	Missense_Mutation	SNP	G	G	A	rs143272721	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:37643369G>A	ENST00000356958.4	-	5	1690	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R423W|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R423W			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTTGACCGGTTGGTGAAT	0.403000													46	124					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48459693	48459693	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:48459693C>A	ENST00000358536.4	-	15	3398	c.3129G>T	c.(3127-3129)tgG>tgT	p.W1043C	PLXNB1_ENST00000358459.4_Missense_Mutation_p.W860C|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.W1043C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.W860C	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1043					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCCCTCACACCACACACAGC	0.627000													13	30					2.61681e-11	2.97025e-11	1	1	0
MCM6	4175	broad.mit.edu	37	2	136630275	136630275	+	Silent	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:136630275C>T	ENST00000264156.2	-	2	306	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	82					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACCTATAGAACTCCTCTTGAA	0.428000													48	51					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715453	165715453	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:165715453G>T	ENST00000543069.1	-	2	627	c.46C>A	c.(46-48)Ccc>Acc	p.P16T	C6orf118_ENST00000230301.8_Missense_Mutation_p.P120T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	120										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCCTCACTGGGGACCAGGGCC	0.652000													53	72					2.73381e-35	3.72173e-35	1	1	0
AHI1	54806	broad.mit.edu	37	6	135776961	135776961	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:135776961C>G	ENST00000367800.4	-	8	1471	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	AHI1_ENST00000327035.6_Missense_Mutation_p.E419Q|AHI1_ENST00000457866.2_Missense_Mutation_p.E419Q	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	419						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCTTCCCACTCTGGAAGTCTT	0.348000													9	14					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95160974	95160974	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:95160974A>T	ENST00000027335.3	-	14	2049	c.1925T>A	c.(1924-1926)gTa>gAa	p.V642E	CDH17_ENST00000441892.2_Missense_Mutation_p.V428E|CDH17_ENST00000450165.2_Missense_Mutation_p.V642E	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	642	Cadherin 6.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ttGCTTACCTACTTCTGTGGC	0.423000													16	8					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1397985	1397985	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:1397985C>T	ENST00000324385.5	+	32	3379	c.3221C>T	c.(3220-3222)aCg>aTg	p.T1074M	BAIAP3_ENST00000397489.1_Missense_Mutation_p.T1056M|BAIAP3_ENST00000426824.3_Missense_Mutation_p.T1039M|BAIAP3_ENST00000562208.1_Missense_Mutation_p.T1016M|BAIAP3_ENST00000568887.1_Missense_Mutation_p.T1011M|BAIAP3_ENST00000397488.2_Missense_Mutation_p.T1056M|BAIAP3_ENST00000421665.2_Missense_Mutation_p.T1003M	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1074	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGACCCGGACGCTGCACCCT	0.632000													35	81					0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96092177	96092177	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:96092177C>G	ENST00000278520.5	-	8	1974	c.1546G>C	c.(1546-1548)Gaa>Caa	p.E516Q	CCDC82_ENST00000542662.1_Missense_Mutation_p.E516Q|CCDC82_ENST00000423339.2_Missense_Mutation_p.E516Q			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	516							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CAGCCATTTTCTTTTGACCGC	0.338000													29	135					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447506	28447506	+	Silent	SNP	T	T	C	rs2905946		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:28447506T>C	ENST00000261609.7	-	46	7575	c.7467A>G	c.(7465-7467)gcA>gcG	p.A2489A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2489					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAAGCTGGATGCATTCCCGG	0.552000													4	62					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354548	17354548	+	RNA	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:17354548G>C	ENST00000511821.1	+	0	407				FTH1P10_ENST00000401830.3_RNA																							CGACTAAGGAGAGGCGGCTGC	0.687000													11	71					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113348966	113348966	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:113348966G>A	ENST00000297405.5	-	44	7178	c.6934C>T	c.(6934-6936)Ctt>Ttt	p.L2312F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2208F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2242F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2272F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2312	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTCTTACAAGCCAAAAACAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			66	182					0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70945975	70945975	+	Missense_Mutation	SNP	A	A	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:70945975A>G	ENST00000340941.6	+	15	1582	c.1453A>G	c.(1453-1455)Ata>Gta	p.I485V	MCCC2_ENST00000323375.8_Missense_Mutation_p.I447V	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	485	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GTTGGCCACGATAACAAAGGA	0.502000													42	10					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124358192	124358192	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:124358192G>T	ENST00000409039.3	+	45	7544	c.7519G>T	c.(7519-7521)Gat>Tat	p.D2507Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2507	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGAACCAAAGATACTTACGG	0.478000													18	17					7.07596e-05	7.34488e-05	1	1	0
ADCY8	114	broad.mit.edu	37	8	131812721	131812721	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:131812721C>T	ENST00000286355.5	-	15	5103	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G873E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1004					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCATTCCACTCCCTGGTTATT	0.448000										HNSCC(32;0.087)			59	272					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480579	10480579	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:10480579G>T	ENST00000382483.3	-	2	356	c.133C>A	c.(133-135)Cgg>Agg	p.R45R	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	45					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGCAAACCGTGGATCCCCT	0.642000													31	19					3.80469e-20	4.65729e-20	1	1	0
NUTM2D	728130	broad.mit.edu	37	10	89118184	89118184	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:89118184T>C	ENST00000412718.1	+	1	708	c.162T>C	c.(160-162)aaT>aaC	p.N54N	NUTM2D_ENST00000381697.2_Silent_p.N54N					NUT family member 2D																		TGGCTTCAAATGGAGGTAAGC	0.537000													62	137					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103440194	103440194	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr13:103440194T>C	ENST00000376004.4	-	8	1709	c.1373A>G	c.(1372-1374)aAa>aGa	p.K458R	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	458						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTGGAAAAGTTTGAAATAATA	0.308000													45	7					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63042368	63042368	+	Silent	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr12:63042368C>A	ENST00000228705.6	-	10	1746	c.1446G>T	c.(1444-1446)ctG>ctT	p.L482L	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	482	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTCTGTCCTTCAGCACACCCC	0.507000													43	49					1.15505e-17	1.38669e-17	1	1	0
GALNT18	374378	broad.mit.edu	37	11	11354341	11354341	+	Missense_Mutation	SNP	T	T	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:11354341T>G	ENST00000227756.4	-	8	1727	c.1316A>C	c.(1315-1317)aAg>aCg	p.K439T		NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		CCTGAGAGCCTTCCTTGCAGT	0.542000													21	54					0	0	1	0	0
POU3F4	5456	broad.mit.edu	37	X	82763370	82763370	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:82763370G>T	ENST00000373200.2	+	1	102	c.38G>T	c.(37-39)aGt>aTt	p.S13I	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	13					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCATTCTCAGTTCCACCTCC	0.537000													5	35					0.217242	0.217242	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145157596	145157596	+	Silent	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:145157596G>C	ENST00000558170.2	-	8	2342	c.1158C>G	c.(1156-1158)ggC>ggG	p.G386G	ZEB2_ENST00000409487.3_Silent_p.G386G|ZEB2_ENST00000539609.3_Silent_p.G362G|ZEB2_ENST00000303660.4_Silent_p.G386G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	386						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTTAAGTAAGCCTGTCTGTT	0.393000													47	45					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	404928	404928	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:404928G>A	ENST00000256509.2	+	14	2089	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	CHL1_ENST00000397491.2_Missense_Mutation_p.E467K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	467	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAAACCCCTGGAGGGCAGGCG	0.438000													42	28					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354523	45354523	+	Missense_Mutation	SNP	C	C	G	rs145994112		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:45354523C>G	ENST00000359271.2	+	2	1098	c.848C>G	c.(847-849)gCt>gGt	p.A283G		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	283						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AAGGTGGCAGCTACCCTGACC	0.647000													99	140					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011847	176011847	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:176011847G>T	ENST00000510636.1	+	19	2839	c.2565G>T	c.(2563-2565)ggG>ggT	p.G855G	CDHR2_ENST00000506348.1_Silent_p.G855G|CDHR2_ENST00000261944.5_Silent_p.G855G	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	855	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCAAGGCCGGGGTCGATGTGG	0.607000													48	18					2.77807e-22	3.50872e-22	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067536	190067536	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:190067536G>C	ENST00000367462.3	-	8	2144	c.1913C>G	c.(1912-1914)cCc>cGc	p.P638R	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.P536R	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		638						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATTACCATTGGGACCATTGGA	0.413000													130	118					0	0	1	0	0
KRTAP8-1	337879	broad.mit.edu	37	21	32185472	32185472	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:32185472G>A	ENST00000329621.4	-	1	98	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_175857.3	NP_787053.1	Q8IUC2	KRA81_HUMAN	keratin associated protein 8-1	23	12 X 2 AA repeats of G-[YCGS].					intermediate filament				central_nervous_system(1)|large_intestine(1)|lung(4)	6						CTATATCCCAGCGGGTAGCCA	0.597000													30	81					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1257639	1257639	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:1257639G>C	ENST00000447027.1	+	24	2971	c.2913G>C	c.(2911-2913)gaG>gaC	p.E971D	MUC5B_ENST00000529681.1_Missense_Mutation_p.E968D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	968	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCTCCAAGAGGGGACCTTTA	0.667000													48	33					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132722338	132722338	+	Silent	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:132722338G>T	ENST00000367963.3	-	1	346	c.228C>A	c.(226-228)gtC>gtA	p.V76V	MOXD1_ENST00000392401.3_Silent_p.V76V	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	76	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCCGCCCACGACGATGTCGG	0.751000													11	8					6.40141e-05	6.66052e-05	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214557708	214557708	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:214557708G>C	ENST00000366956.5	-	13	1684	c.1490C>G	c.(1489-1491)aCt>aGt	p.T497S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	497					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATAAGGGACAGTGTAGGGGTG	0.537000													252	64					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103459	53103459	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:53103459C>A	ENST00000408890.4	+	1	111	c.95C>A	c.(94-96)cCc>cAc	p.P32H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	32										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CTGGCGGCTCCCATGAGCAGG	0.682000													45	11					4.01765e-15	4.69442e-15	1	1	0
ZXDB	158586	broad.mit.edu	37	X	57619097	57619097	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711000													3	16					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507162	74507162	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:74507162G>T	ENST00000354431.4	-	7	1644	c.1453C>A	c.(1453-1455)Caa>Aaa	p.Q485K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.Q485K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	485										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGCCAAACTTGTCGTAAACTG	0.318000													41	86					6.2361e-21	7.67656e-21	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765002	77765002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:77765002G>T	ENST00000521891.2	+	10	6293	c.5845G>T	c.(5845-5847)Gga>Tga	p.G1949*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.G1904*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.G1923*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.G1904*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1904	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1949*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAGAATGTGGAACATGTGG	0.378000										HNSCC(33;0.089)			17	119					9.16793e-09	9.99099e-09	1	1	0
STRN4	29888	broad.mit.edu	37	19	47240082	47240082	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr19:47240082T>C	ENST00000391910.3	-	4	987	c.537A>G	c.(535-537)cgA>cgG	p.R179R	STRN4_ENST00000539396.1_Silent_p.R60R|STRN4_ENST00000263280.6_Silent_p.R179R			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	179	Calmodulin-binding (Potential).					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACACTCACTGTCGGAGAAGCT	0.617000													78	123					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511139	56511139	+	Missense_Mutation	SNP	T	T	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:56511139T>A	ENST00000302957.3	-	1	148	c.149A>T	c.(148-150)tAt>tTt	p.Y50F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTTATCAAATAGAGCATCAG	0.413000													61	36					0	0	1	0	0
ARF6	382	broad.mit.edu	37	14	50360556	50360556	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:50360556G>T	ENST00000298316.5	+	2	649	c.102G>T	c.(100-102)aaG>aaT	p.K34N		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	34					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					ACAAGTTGAAGCTGGGCCAGT	0.537000													62	124					1.64573e-32	2.21288e-32	1	1	0
DLG1	1739	broad.mit.edu	37	3	196846282	196846282	+	Splice_Site	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:196846282T>C	ENST00000346964.2	-	13	1573	c.1385_splice	c.e13+1	p.R462_splice	DLG1_ENST00000357674.4_Splice_Site_p.R429_splice|DLG1_ENST00000314062.3_Splice_Site_p.R411_splice|DLG1_ENST00000392382.2_Splice_Site_p.R429_splice|DLG1_ENST00000443183.1_Splice_Site_p.R346_splice|DLG1_ENST00000450955.1_Splice_Site_p.R429_splice|DLG1_ENST00000452595.1_Splice_Site_p.R346_splice|DLG1_ENST00000448528.2_Splice_Site_p.R462_splice|DLG1_ENST00000422288.1_Splice_Site_p.R411_splice|DLG1_ENST00000419354.1_Splice_Site_p.R462_splice	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	462					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-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;0.0148)		CTTCCTTACCTTGTAATTTCA	0.358000													18	94					0	0	1	0	0
POLD4	57804	broad.mit.edu	37	11	67121003	67121003	+	Translation_Start_Site	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:67121003G>T	ENST00000312419.3	-	0	14				AP003419.11_ENST00000543494.1_RNA|POLD4_ENST00000529704.1_Intron	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit						base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			AGATGACCCAGACAAACCGAG	0.647000													3	8					0.115264	0.115794	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70505957	70505957	+	Silent	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:70505957T>C	ENST00000338508.4	-	23	2039	c.2040A>G	c.(2038-2040)ctA>ctG	p.L680L	SHANK2_ENST00000357171.3_Silent_p.L91L|SHANK2_ENST00000409161.1_Silent_p.L90L|SHANK2_ENST00000423696.2_Silent_p.L300L|SHANK2_ENST00000409530.1_Silent_p.L90L|SHANK2_ENST00000449833.2_Silent_p.L91L|SHANK2_ENST00000449116.2_Silent_p.L91L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	300					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCCGGTCCTTAGTCCGGCTT	0.582000													13	41					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16580198	16580198	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:16580198C>G	ENST00000375592.3	-	7	1012	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	266										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GCCCACTGCTCAAGGTCAAGG	0.512000													48	21					0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882137	42882137	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:42882137T>C	ENST00000426548.1	-	3	1318	c.1049A>G	c.(1048-1050)gAt>gGt	p.D350G	GJC1_ENST00000592524.1_Missense_Mutation_p.D350G|GJC1_ENST00000330514.4_Missense_Mutation_p.D350G|GJC1_ENST00000590758.1_Missense_Mutation_p.D350G	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	350					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				AACTGCCAGATCCAAGCGTTC	0.577000													92	77					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994429	53994429	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:53994429C>A	ENST00000396328.1	-	12	1710	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	WDR72_ENST00000360509.5_Missense_Mutation_p.V491L|WDR72_ENST00000557913.1_Missense_Mutation_p.V488L|WDR72_ENST00000559418.1_Missense_Mutation_p.V501L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	491										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACAAGATCACACATGAGTCC	0.398000													41	70					1.03484e-13	1.19006e-13	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554263	20554263	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr16:20554263G>C	ENST00000329697.6	-	12	1650	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I494M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I494M|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I415M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	494					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGGGCTGCTGATCACAGCCG	0.542000													28	52					0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49447745	49447745	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:49447745C>G	ENST00000388901.5	-	1	104	c.31G>C	c.(31-33)Gat>Cat	p.D11H	COPS2_ENST00000542928.1_Missense_Mutation_p.D11H|COPS2_ENST00000299259.6_Missense_Mutation_p.D11H	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	11					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCCTCATCATCGCACATGAAA	0.607000													17	36					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447502	28447502	+	Missense_Mutation	SNP	T	T	C	rs140027229	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:28447502T>C	ENST00000261609.7	-	46	7579	c.7471A>G	c.(7471-7473)Agc>Ggc	p.S2491G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2491					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGCAAGCTGGATGCATTC	0.557000													5	67					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196824	132196824	+	Splice_Site	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr3:132196824G>T	ENST00000260818.6	+	24	2797		c.e24-1			NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTAAAATCTAGGTATGAATTT	0.343000													41	21					2.52637e-11	2.88257e-11	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137658864	137658864	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:137658864G>C	ENST00000371817.3	+	23	2566	c.2152G>C	c.(2152-2154)Ggc>Cgc	p.G718R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	718	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGAGAGCCTGGCCCCCCAGG	0.652000													20	6					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109931526	109931526	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:109931526C>A	ENST00000399132.1	-	6	956	c.426G>T	c.(424-426)caG>caT	p.Q142H	COL25A1_ENST00000399126.1_Missense_Mutation_p.Q142H|COL25A1_ENST00000399127.1_Missense_Mutation_p.Q142H	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	142	Collagen-like 1.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GAGGACCAGGCTGTCCCTGAA	0.308000													9	12					1.76689e-08	1.91122e-08	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52193576	52193576	+	Missense_Mutation	SNP	A	A	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:52193576A>T	ENST00000371471.2	-	4	2152	c.1727T>A	c.(1726-1728)cTt>cAt	p.L576H	ZNF217_ENST00000302342.3_Missense_Mutation_p.L576H			O75362	ZN217_HUMAN	zinc finger protein 217	576					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CATCTCCTTAAGCTGCTTTGC	0.438000													106	103					0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100064673	100064673	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:100064673C>T	ENST00000300181.2	-	5	1851	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	TSC22D4_ENST00000393991.1_Missense_Mutation_p.R127H|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCAGGGCGCGCAGCAGCCC	0.697000													14	46					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62916040	62916040	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:62916040G>A	ENST00000339950.4	+	9	2561	c.1746G>A	c.(1744-1746)gtG>gtA	p.V582V	USP1_ENST00000371146.1_Silent_p.V582V	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	582					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TTGCGGTTGTGATGCATAGTG	0.378000													60	27					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70925885	70925885	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr14:70925885G>A	ENST00000603540.1	+	2	1927	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.D557N	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	557	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCATATCTCTGATGTCTTTTG	0.388000													40	155					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483351	28483351	+	Missense_Mutation	SNP	C	C	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:28483351C>A	ENST00000261609.7	-	25	3869	c.3761G>T	c.(3760-3762)gGg>gTg	p.G1254V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1254	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGGTCTTCCCCTGCAAACTG	0.458000													15	33					1.67942e-08	1.8211e-08	1	1	0
CCDC93	54520	broad.mit.edu	37	2	118716044	118716044	+	Missense_Mutation	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr2:118716044G>A	ENST00000376300.2	-	12	1039	c.902C>T	c.(901-903)tCa>tTa	p.S301L	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.S300L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	301										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTTCAGCTGATAGCTCAGA	0.428000													43	44					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170345826	170345826	+	Missense_Mutation	SNP	G	G	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:170345826G>C	ENST00000439128.2	-	29	3656	c.3016C>G	c.(3016-3018)Cag>Gag	p.Q1006E	NEK1_ENST00000511633.1_Missense_Mutation_p.Q990E|NEK1_ENST00000507142.1_Missense_Mutation_p.Q1034E|NEK1_ENST00000512193.1_Missense_Mutation_p.Q937E|NEK1_ENST00000510533.1_Missense_Mutation_p.Q962E	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1006					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GGTGAACACTGAACTGATTGA	0.388000													27	13					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675389	100675389	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:100675389C>T	ENST00000306151.4	+	3	756	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	231	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCAGAGGCTATC	0.488000													111	278					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654982	8654982	+	Silent	SNP	G	G	C	rs141053249		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:8654982G>C	ENST00000276282.6	-	2	3604	c.3018C>G	c.(3016-3018)ccC>ccG	p.P1006P	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1006										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CTTCCGGTCTGGGCTGACTCA	0.542000													13	12					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162841682	162841682	+	Missense_Mutation	SNP	G	G	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:162841682G>T	ENST00000306100.5	-	4	719	c.283C>A	c.(283-285)Cgt>Agt	p.R95S	FSTL5_ENST00000427802.2_Missense_Mutation_p.R94S|FSTL5_ENST00000379164.4_Missense_Mutation_p.R94S|FSTL5_ENST00000536695.1_Missense_Mutation_p.R94S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	95	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGTAGTGACGTTTGCAAAGG	0.433000													23	13					3.5997e-14	4.18369e-14	1	1	0
FCRL2	79368	broad.mit.edu	37	1	157740417	157740417	+	Missense_Mutation	SNP	C	C	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:157740417C>G	ENST00000361516.3	-	3	140	c.92G>C	c.(91-93)gGa>gCa	p.G31A	FCRL2_ENST00000392274.3_Missense_Mutation_p.G31A|FCRL2_ENST00000368181.4_Missense_Mutation_p.G31A	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	31	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GATGCTGTCTCCTTCGAAGAC	0.453000													39	31					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31126053	31126053	+	Missense_Mutation	SNP	T	T	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:31126053T>G	ENST00000304166.4	+	10	1014	c.725T>G	c.(724-726)tTc>tGc	p.F242C	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.F242C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.F221C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.F242C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	242					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCCAACTACTTCTGGCTGTTC	0.537000													21	11					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41416172	41416172	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:41416172C>T	ENST00000400454.1	-	31	5693	c.5216G>A	c.(5215-5217)gGg>gAg	p.G1739E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1739					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCTGTGGGCCCAGCCTTGGC	0.592000													20	52					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176722109	176722109	+	Silent	SNP	G	G	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr5:176722109G>A	ENST00000439151.2	+	23	7785	c.7740G>A	c.(7738-7740)gcG>gcA	p.A2580A	NSD1_ENST00000361032.4_Silent_p.A2477A|NSD1_ENST00000354179.4_Silent_p.A2311A|NSD1_ENST00000347982.4_Silent_p.A2311A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2580				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAAGCAGGCGAAGCAGATGG	0.597000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			16	45					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40058067	40058067	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr22:40058067C>T	ENST00000336649.4	+	20	3017	c.3017C>T	c.(3016-3018)tCg>tTg	p.S1006L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.S965L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.S1000L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S965L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1000L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S965L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1000					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCCGCCGTCGGCGGAGCAT	0.756000													2	3					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13550169	13550169	+	Missense_Mutation	SNP	T	T	C			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr20:13550169T>C	ENST00000337743.4	-	7	673	c.553A>G	c.(553-555)Aac>Gac	p.N185D	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	185					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						GTCATGATGTTAGGAGGGCAA	0.338000													41	57					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341189	85341189	+	Missense_Mutation	SNP	C	C	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:85341189C>T	ENST00000299927.3	+	3	2511	c.2489C>T	c.(2488-2490)gCa>gTa	p.A830V	ZNF592_ENST00000560079.2_Missense_Mutation_p.A830V			Q92610	ZN592_HUMAN	zinc finger protein 592	830					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACAAATGTGCATTCTGCCCC	0.592000													28	52					0	0	1	0	0
RP11-782C8.2	0	broad.mit.edu	37	1	143210069	143210069	+	RNA	DEL	C	C	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:143210069delC	ENST00000412204.2	-	0	1001				RP11-782C8.1_ENST00000438000.1_lincRNA																							CTTCTTCCTTCAACAGTTCGG	0.373													12	58	---	---	---	---					
CREB3L4	148327	broad.mit.edu	37	1	153945712	153945725	+	Frame_Shift_Del	DEL	AAGTCCAGGAGCTG	AAGTCCAGGAGCTG	-	rs147500724	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:153945712_153945725delAAGTCCAGGAGCTG	ENST00000368607.3	+	7	1051_1064	c.785_798delAAGTCCAGGAGCTG	c.(784-798)afs	p.KVQEL262fs	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368600.3_Frame_Shift_Del_p.KVQEL242fs|CREB3L4_ENST00000271889.4_Frame_Shift_Del_p.KVQEL262fs|CREB3L4_ENST00000405694.3_Frame_Shift_Del_p.KVQEL115fs|CREB3L4_ENST00000368603.1_Frame_Shift_Del_p.KVQEL262fs	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	262	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTACAGAAAAAAGTCCAGGAGCTGGAGAGGCACA	0.514													20	27	---	---	---	---					
CD84	8832	broad.mit.edu	37	1	160535420	160535420	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:160535420delC	ENST00000368054.3	-	2	197	c.162delG	c.(160-162)tgfs	p.W54fs	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000311224.4_Frame_Shift_Del_p.W54fs|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368048.3_Frame_Shift_Del_p.W54fs|CD84_ENST00000534968.1_Intron|CD84_ENST00000368051.3_Frame_Shift_Del_p.W54fs	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	54					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTTTAGAAGTCCAAGCAATGA	0.413													35	107	---	---	---	---					
C1orf112	55732	broad.mit.edu	37	1	169801589	169801591	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr1:169801589_169801591delTCA	ENST00000286031.6	+	16	2181_2183	c.1481_1483delTCA	c.(1480-1485)ctc>c	p.LI494del	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_In_Frame_Del_p.LI494del	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	494										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTTATCAACTCATCAACCTATC	0.404													35	132	---	---	---	---					
LOC101927237	101927237	broad.mit.edu	37	4	68312324	68312325	+	RNA	INS	-	-	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr4:68312324_68312325insT	ENST00000502400.1	-	0	34																											ATAACCCAGACTTTTTTTTTTC	0.302													21	16	---	---	---	---					
NRM	11270	broad.mit.edu	37	6	30657966	30657967	+	Frame_Shift_Ins	INS	-	-	G			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:30657966_30657967insG	ENST00000259953.4	-	3	538_539	c.187_188insC	c.(187-189)ggcfs	p.G63fs	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Frame_Shift_Ins_p.G63fs|NRM_ENST00000376421.5_Frame_Shift_Ins_p.G63fs	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	63						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCCATGCCAGGGGGGCAAGG	0.569													26	94	---	---	---	---					
RSPH4A	345895	broad.mit.edu	37	6	116951693	116951711	+	Frame_Shift_Del	DEL	GCATATGCCTTCTCCAATG	GCATATGCCTTCTCCAATG	-	rs9387422		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:116951693_116951711delGCATATGCCTTCTCCAATG	ENST00000229554.5	+	5	2031_2049	c.1894_1912delGCATATGCCTTCTCCAATG	c.(1894-1914)gcfs	p.AYAFSNG632fs	RSPH4A_ENST00000368580.4_Frame_Shift_Del_p.AYAFSNG385fs|RSPH4A_ENST00000368581.4_Frame_Shift_Del_p.EHMPSPM586fs	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	632					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.A632T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCCTGGAGCATATGCCTTCTCCAATGGCAAGTAAGT	0.402									Kartagener syndrome				18	53	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													8	6	---	---	---	---					
CALCR	799	broad.mit.edu	37	7	93108762	93108763	+	Frame_Shift_Ins	INS	-	-	G	rs144326254	byFrequency	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr7:93108762_93108763insG	ENST00000359558.2	-	5	461_462	c.162_163insC	c.(160-165)ccagccfs	p.A55fs	CALCR_ENST00000360249.4_Frame_Shift_Ins_p.A37fs|CALCR_ENST00000426151.1_Frame_Shift_Ins_p.A37fs|CALCR_ENST00000394441.1_Frame_Shift_Ins_p.A37fs|CALCR_ENST00000421592.1_Frame_Shift_Ins_p.A37fs	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	37					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGAAATGGCTTGGGCTCTATTG	0.416													99	95	---	---	---	---					
RP11-383H13.1	0	broad.mit.edu	37	8	72755647	72755648	+	Frame_Shift_Ins	INS	-	-	T	rs144384192	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:72755647_72755648insT	ENST00000537896.1	+	1	281_282	c.11_12insT	c.(10-12)aggfs	p.R4fs	MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000521467.1_Intron																lung(1)	1						ATGGCTGTCACTGGGGTACAAT	0.490											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	1	---	---	---	---					
CCDC26	137196	broad.mit.edu	37	8	130486240	130486241	+	RNA	INS	-	-	GCTTAACATG	rs146923907	by1000genomes	TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr8:130486240_130486241insGCTTAACATG	ENST00000446592.3	-	0	360																											ggctcagctcagcttaacatgg	0.545													3	5	---	---	---	---					
ERCC6L2	375748	broad.mit.edu	37	9	98775117	98775118	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr9:98775117_98775118insT	ENST00000407474.3	+	4	1741_1742	c.1228_1229insT	c.(1228-1230)gctfs	p.A410fs				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										AGAAAATCCAGTGCTGGAAAAT	0.381													37	14	---	---	---	---					
SVIL	6840	broad.mit.edu	37	10	29779930	29779930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:29779930delG	ENST00000375398.2	-	24	4487	c.4038delC	c.(4036-4038)gcfs	p.A1346fs	SVIL_ENST00000535393.1_Frame_Shift_Del_p.A260fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.A1346fs|SVIL_ENST00000538146.1_Frame_Shift_Del_p.A138fs|SVIL_ENST00000375400.3_Frame_Shift_Del_p.A920fs			O95425	SVIL_HUMAN	supervillin	1346					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCTTGTGCTCGGCCACGGAAG	0.592													8	61	---	---	---	---					
TBATA	219793	broad.mit.edu	37	10	72537055	72537055	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr10:72537055delC	ENST00000299290.1	-	7	933	c.544delG	c.(544-546)cafs	p.A182fs	TBATA_ENST00000456372.2_Frame_Shift_Del_p.A182fs	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		GAGTACTTTGCCCCCTGCTCC	0.637													14	33	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1279349	1279350	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:1279349_1279350insA	ENST00000447027.1	+	42	16538_16539	c.16480_16481insA	c.(16480-16482)ccafs	p.P5494fs	MUC5B_ENST00000529681.1_Frame_Shift_Ins_p.P5491fs			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5491					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACCACCTGCCCCCAGAGCCTG	0.673													4	8	---	---	---	---					
HBD	3045	broad.mit.edu	37	11	5254250	5254251	+	Frame_Shift_Ins	INS	-	-	AGCCT			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:5254250_5254251insAGCCT	ENST00000380299.3	-	3	601_602	c.387_388insAGGCT	c.(385-390)gccctafs	p.L130fs	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	130					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTGATAGGCAGCCTGCATTT	0.525													18	132	---	---	---	---					
ANKRD13D	338692	broad.mit.edu	37	11	67066550	67066550	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr11:67066550delC	ENST00000447274.2	+	7	1667	c.492delC	c.(490-492)ggfs	p.G164fs	ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.G164fs|ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.G251fs|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.G164fs			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	164										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTATCTGGGGCTGGCGGTCTG	0.587													42	130	---	---	---	---					
IGDCC4	57722	broad.mit.edu	37	15	65688403	65688404	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:65688403_65688404delGC	ENST00000352385.2	-	7	1304_1305	c.1095_1096delGC	c.(1093-1098)gctgfs	p.AL365fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	365	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGCCAGCGCAGCGCTGGCCGCG	0.752													4	5	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													4	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577552	7577569	+	In_Frame_Del	DEL	CATGCAGGAACTGTTACA	CATGCAGGAACTGTTACA	-	rs121912655		TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:7577552_7577569delCATGCAGGAACTGTTACA	ENST00000420246.2	-	7	844_861	c.712_729delTGTAACAGTTCCTGCATG	c.(712-729)del	p.CNSSCM238del	TP53_ENST00000269305.4_In_Frame_Del_p.CNSSCM238del|TP53_ENST00000445888.2_In_Frame_Del_p.CNSSCM238del|TP53_ENST00000455263.2_In_Frame_Del_p.CNSSCM238del|TP53_ENST00000413465.2_In_Frame_Del_p.CNSSCM238del|TP53_ENST00000359597.4_In_Frame_Del_p.CNSSCM238del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.C242F(82)|p.C238Y(65)|p.C238F(46)|p.C242Y(44)|p.N239D(33)|p.N239S(28)|p.C242S(26)|p.S241C(26)|p.C238S(21)|p.C242fs*5(16)|p.N239fs*25(14)|p.C238R(14)|p.S240G(14)|p.C242R(12)|p.M243L(10)|p.S241fs*6(9)|p.S241T(8)|p.S240R(8)|p.0?(8)|p.S241Y(8)|p.S241A(8)|p.M243I(7)|p.N239K(7)|p.C242W(7)|p.N239Y(6)|p.S240I(6)|p.C149F(6)|p.M243T(5)|p.S241del(5)|p.C145F(5)|p.N239fs*1(5)|p.C145Y(5)|p.?(5)|p.N239T(4)|p.S148F(4)|p.M237_N239delMCN(4)|p.C238G(4)|p.C238*(4)|p.M243V(3)|p.C242*(3)|p.N146S(3)|p.S240C(3)|p.N239_C242delNSSC(3)|p.S241S(3)|p.S241P(3)|p.C242C(2)|p.M243K(2)|p.C242G(2)|p.M243R(2)|p.N239fs*8(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.N239_S240insX(2)|p.S240S(2)|p.S240T(2)|p.C238W(2)|p.C149Y(2)|p.S241fs*22(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146fs*1(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.N239fs*26(1)|p.C242fs*98(1)|p.C238fs*2(1)|p.M237_C238insX(1)|p.C242_M246>L(1)|p.N239I(1)|p.N239N(1)|p.C145S(1)|p.M243fs*18(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.N239*(1)|p.S240fs*23(1)|p.C145G(1)|p.N239_C242del(1)|p.S148T(1)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.C238fs*9(1)|p.M243fs*4(1)|p.M144_N146delMCN(1)|p.G244fs*3(1)|p.M243_G244>IC(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N146D(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.S240P(1)|p.S241_C242insX(1)|p.C238del(1)|p.C238fs*21(1)|p.C238C(1)|p.M237fs*1(1)|p.N239fs*>48(1)|p.S241fs*23(1)|p.N146fs*>10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTG	0.583		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	25	---	---	---	---					
RP11-527L4.6	0	broad.mit.edu	37	17	42009885	42009891	+	RNA	DEL	CTGCGGT	CTGCGGT	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr17:42009885_42009891delCTGCGGT	ENST00000592842.1	+	0	416_422																											GGACTGGGCACTGCGGTGGCCCCAGCA	0.671													12	26	---	---	---	---					
PIAS2	9063	broad.mit.edu	37	18	44470569	44470579	+	Frame_Shift_Del	DEL	TCAAGGACATC	TCAAGGACATC	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr18:44470569_44470579delTCAAGGACATC	ENST00000585916.1	-	2	462_472	c.463_473delGATGTCCTTGA	c.(463-474)tfs	p.DVLD155fs	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Frame_Shift_Del_p.DVLD155fs	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	155	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GATGAGAACATCAAGGACATCATAAAAGGGC	0.403													21	32	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41648030	41648030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-8499-01A-11D-2393-08	TCGA-91-8499-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ad9a3e2-9456-4bea-8ee9-50f9ebad837e	7ffc6e72-c5aa-41dc-b966-6a8d40bd9367	g.chr21:41648030delC	ENST00000400454.1	-	11	2827	c.2350delG	c.(2350-2352)ttfs	p.V784fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	784					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTACTTTTAACCGTGAGGTAC	0.448													43	98	---	---	---	---					
