Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CUL7	9820	broad.mit.edu	37	6	43008726	43008726	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:43008726G>A	uc003otq.3	-	19	4065	c.3733C>T	c.(3733-3735)Ctg>Ttg	p.L1245L	CUL7_uc010jyg.3_Silent_p.L524L|CUL7_uc011dvb.2_Silent_p.L1329L|KLC4_uc003otr.1_Non-coding_Transcript	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1245					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATTGCTGCAGCTGTGCCAGC	0.572000														7			3		0	0	0.00024832	0	0
CHD6	84181	broad.mit.edu	37	20	40050320	40050320	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:40050320G>A	uc002xka.1	-	30	5133	c.4955C>T	c.(4954-4956)tCa>tTa	p.S1652L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1652					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGGGACTCTGAAGTCCTACT	0.398000														53			14		0	0	0.000308642	0	0
HDAC10	83933	broad.mit.edu	37	22	50687534	50687534	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:50687534C>G	uc003bkg.3	-	7	1127	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	HDAC10_uc010hav.3_Missense_Mutation_p.E252Q|HDAC10_uc003bkh.3_Missense_Mutation_p.L80F|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_5'Flank	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	252	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGTCACCTCAAAGGCCAGT	0.642000														7			7		0	0	0.000274275	0	0
VCAN	1462	broad.mit.edu	37	5	82786054	82786054	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:82786054G>T	uc003kii.3	+	2	564	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	VCAN_uc003kij.3_Nonsense_Mutation_p.E70*|VCAN_uc010jau.2_Nonsense_Mutation_p.E70*|VCAN_uc003kik.3_Nonsense_Mutation_p.E70*|VCAN_uc003kih.4_Nonsense_Mutation_p.E70*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	70	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E70G(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCTAAGATTGAAGTGGACAA	0.418000														64			22		7.41877e-09	5.87091e-08	0.00188189	1	0
CMYA5	202333	broad.mit.edu	37	5	79032579	79032579	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79032579G>A	uc003kgc.3	+	1	8063	c.7991G>A	c.(7990-7992)aGa>aAa	p.R2664K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2664						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGTCAAGCAGAGATATGCCA	0.403000														20			22		0	0	0.00229938	0	0
HAP1	9001	broad.mit.edu	37	17	39887800	39887800	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:39887800G>A	uc002hxm.1	-	5	1026	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.L338L|HAP1_uc002hxo.1_Silent_p.L346L|HAP1_uc002hxp.1_Silent_p.L338L	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	338	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CAAGAGTGTCGAGTTGAGAGG	0.557000														29			55		0	0	0.000781405	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544111	154544111	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:154544111C>A	uc001ffg.3	+	4	1076	c.812C>A	c.(811-813)tCa>tAa	p.S271*		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	271					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.S271*(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TTGTGCATCTCAGTGCTGCTG	0.577000														99			142		1.56226e-53	1.2784e-52	0.000781405	1	0
AMDHD1	144193	broad.mit.edu	37	12	96354342	96354342	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:96354342G>C	uc001tel.2	+	4	860	c.754G>C	c.(754-756)Gat>Cat	p.D252H	AMDHD1_uc009zth.2_Missense_Mutation_p.D143H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	252					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						ACGTGGAAAAGATATAGGGTT	0.428000														89			55		0	0	0.000781405	0	0
LPXN	9404	broad.mit.edu	37	11	58295114	58295114	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:58295114C>T	uc001nmw.3	-	8	1119	c.974G>A	c.(973-975)cGg>cAg	p.R325Q	LPXN_uc009ymp.3_Missense_Mutation_p.R195Q|LPXN_uc010rkj.2_Missense_Mutation_p.R330Q|LPXN_uc010rkk.2_Missense_Mutation_p.R305Q	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	325	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GAGCGTTCCCCGGCGGTGATG	0.542000														30			5		0	0	0.00116845	0	0
SYNE1	23345	broad.mit.edu	37	6	152730280	152730280	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152730280C>T	uc021zhb.1	-	41	6686	c.6463G>A	c.(6463-6465)Gag>Aag	p.E2155K	SYNE1_uc003qot.4_Missense_Mutation_p.E2162K|SYNE1_uc003qou.4_Missense_Mutation_p.E2155K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2138K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2155					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TTCTTCAGCTCAGATAACAAG	0.383000										HNSCC(10;0.0054)				8			40		0	0	0.00170553	0	0
SMEK1	55671	broad.mit.edu	37	14	91942166	91942166	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:91942166T>C	uc001xzn.3	-	6	2077	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	SMEK1_uc001xzm.3_Intron|SMEK1_uc001xzo.3_Intron|SMEK1_uc010atz.3_Missense_Mutation_p.I180V|SMEK1_uc001xzp.1_Intron|SMEK1_uc001xzq.1_Missense_Mutation_p.I295V	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	419						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGCTGGTTATTTTTTGCTCT	0.308000														15			21		0	0	0.00152264	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202172265	202172265	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:202172265C>G	uc010ftg.3	-	10	1300	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	ALS2CR12_uc002uya.4_Missense_Mutation_p.E286Q|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	286					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ATGAAGTTCTCAAAGACAGCA	0.438000														176			42		0	0	0.000781405	0	0
YAP1	10413	broad.mit.edu	37	11	102080284	102080284	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:102080284C>G	uc001pgt.3	+	5	1409	c.1021C>G	c.(1021-1023)Cca>Gca	p.P341A	YAP1_uc001pgu.3_Intron|YAP1_uc001pgv.3_Intron|YAP1_uc021qpf.1_Missense_Mutation_p.P303A|YAP1_uc010ruo.2_Missense_Mutation_p.P163A|YAP1_uc001pgw.2_Missense_Mutation_p.P165A|YAP1_uc010rup.1_Missense_Mutation_p.P106A	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	341	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGCAAATTCTCCAAAATGTCA	0.368000														40			43		0	0	0.000781405	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565413	18565413	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:18565413C>T	uc010vyd.1	-	4	1657	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						ACACTCACTACATTTGTACGG	0.393000														8			6		0	0	0.00116845	0	0
MSTN	2660	broad.mit.edu	37	2	190922196	190922196	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:190922196C>T	uc002urp.3	-	2	1049	c.916G>A	c.(916-918)Gcc>Acc	p.A306T		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	306					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAGTAATTGGCCTTATATCTT	0.423000														28			31		0	0	0.001512	0	0
FLRT2	23768	broad.mit.edu	37	14	86088747	86088747	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:86088747G>C	uc021rxf.1	+	0	889	c.889G>C	c.(889-891)Gat>Cat	p.D297H	FLRT2_uc001xvr.3_Missense_Mutation_p.D297H|FLRT2_uc010atd.3_Missense_Mutation_p.D297H	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	297					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGGGGTTTTTGATAATCTCTC	0.448000														288			48		0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51773559	51773559	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:51773559G>A	uc010ufy.2	-	23	5969	c.5744C>T	c.(5743-5745)tCt>tTt	p.S1915F	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Missense_Mutation_p.S1915F|DMXL2_uc010bfa.3_Missense_Mutation_p.S1279F	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1915						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGATAAGGCAGATGTTTTGGT	0.383000														78			78		0	0	0.000781405	0	0
AARS	16	broad.mit.edu	37	16	70316659	70316659	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:70316659G>C	uc002eyn.1	-	1	118	c.8C>G	c.(7-9)tCt>tGt	p.S3C		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	3					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGTTAGAGTAGAGTCCATCTT	0.388000														51			61		0	0	0.000781405	0	0
CMYA5	202333	broad.mit.edu	37	5	79031882	79031882	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79031882G>C	uc003kgc.3	+	1	7366	c.7294G>C	c.(7294-7296)Gaa>Caa	p.E2432Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2432						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTCAAGAAAGAAATGCAAAA	0.333000														27			23		0	0	0.00188189	0	0
RP1L1	94137	broad.mit.edu	37	8	10468873	10468873	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:10468873C>T	uc003wtc.3	-	3	2964	c.2735G>A	c.(2734-2736)aGt>aAt	p.S912N		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	912					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)		CTGGCTGGCACTGCTTCTCCT	0.716000														10			5		0	0	0.000602214	0	0
MDH1	4190	broad.mit.edu	37	2	63826356	63826356	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:63826356C>G	uc010ypv.2	+	4	659	c.482C>G	c.(481-483)tCa>tGa	p.S161*	MDH1_uc002scj.2_Nonsense_Mutation_p.S143*|MDH1_uc010ypw.2_Nonsense_Mutation_p.S54*	NM_001199111	NP_001186040	P40925	MDHC_HUMAN	Homo sapiens malate dehydrogenase 1, NAD (soluble) (MDH1), transcript variant 1, mRNA.	143					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	GCTTCCAAGTCAGCTCCATCC	0.418000														68			8		0	0	0.000442599	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41100015	41100015	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:41100015G>A	uc001zmt.1	+	0	742	c.228G>A	c.(226-228)atG>atA	p.M76I	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.M76I|ZFYVE19_uc001zmv.1_Intron	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	76							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GAGCCACCATGGAGAGTAGGT	0.657000														23			7		0	0	0.000442599	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945311	16945311	+	RNA	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:16945311G>A	uc010ocf.2	-	3		c.846C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		ACAAAAGGAAGATAGGCATTC	0.483000														9			3		0	0	6.4e-05	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716	by1000genomes	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:29910693A>G	uc003nol.3	+	1	317	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.Q78R|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Silent_p.A121A|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.Q78R(4)|p.Q78*(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				9			4		0	0	0.00116845	0	0
INO80	54617	broad.mit.edu	37	15	41384347	41384347	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:41384347C>A	uc001zni.3	-	4	628	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	139	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCTGAGAATCAGCCTCGCTG	0.378000														20			18		6.94344e-10	5.51746e-09	0.00074312	1	0
TRPM7	54822	broad.mit.edu	37	15	50906430	50906430	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:50906430G>C	uc001zyt.4	-	13	1807	c.1525C>G	c.(1525-1527)Ctg>Gtg	p.L509V	TRPM7_uc010bew.2_Missense_Mutation_p.L509V|TRPM7_uc001zyu.3_Missense_Mutation_p.L67V	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	509					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATATCAATCAGAGTGATCTTA	0.363000														22			21		0	0	0.00188189	0	0
OR2L8	391190	broad.mit.edu	37	1	248112585	248112585	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:248112585G>A	uc001idt.1	+	0	426	c.426G>A	c.(424-426)ctG>ctA	p.L142L	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTGTGTGCTGATGATAACAG	0.438000														192			20		0	0	0.00188189	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409722	105409722	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:105409722G>A	uc010axc.1	-	6	12186	c.12066C>T	c.(12064-12066)tcC>tcT	p.S4022S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S3922S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4022						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGGCT	0.657000														30			78		0	0	0.000781405	0	0
CHD6	84181	broad.mit.edu	37	20	40033767	40033767	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:40033767G>A	uc002xka.1	-	36	7792	c.7614C>T	c.(7612-7614)ctC>ctT	p.L2538L	CHD6_uc002xjz.1_Silent_p.L75L	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2538					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGGTGGACTGAGGAGTCCCC	0.557000														110			19		0	0	0.00121646	0	0
FGFR3	2261	broad.mit.edu	37	4	1808562	1808562	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:1808562G>A	uc003gdr.3	+	16	2431	c.2175G>A	c.(2173-2175)atG>atA	p.M725I	FGFR3_uc003gdu.2_Missense_Mutation_p.M727I|FGFR3_uc003gds.3_Missense_Mutation_p.M613I|FGFR3_uc003gdq.3_Missense_Mutation_p.D703N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	725	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCAGGTACATGATCATGCGGG	0.687000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					2			9		0	0	0.000442599	0	0
PTPN1	5770	broad.mit.edu	37	20	49195155	49195155	+	Missense_Mutation	SNP	T	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:49195155T>G	uc002xvl.3	+	5	865	c.691T>G	c.(691-693)Tgc>Ggc	p.C231G	PTPN1_uc010zys.2_Missense_Mutation_p.C158G	NM_002827	NP_002818	P18031	PTN1_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA.	231	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	GGCTGATACCTGCCTCTTGCT	0.597000														34			15		0	0	0.000308642	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654255	43654255	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:43654255C>T	uc001jan.3	+	2	1089	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	CSGALNACT2_uc001jam.1_Missense_Mutation_p.R252C	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	252					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACCCTCTTCCGCCCTTTTGG	0.393000														51			9		0	0	0.000442599	0	0
LLPH	84298	broad.mit.edu	37	12	66522754	66522754	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:66522754G>A	uc010ssw.2	-	1	189	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	LLPH_uc010ssx.2_Non-coding_Transcript	NM_032338	NP_115714	Q9BRT6	LLPH_HUMAN	Homo sapiens LLP homolog, long-term synaptic facilitation (Aplysia) (LLPH), mRNA.	45	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCTATCTCTTGAACATCTTTC	0.403000														130			24		0	0	0.001512	0	0
EBF2	64641	broad.mit.edu	37	8	25890622	25890622	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:25890622G>C	uc003xes.2	-	5	795	c.530C>G	c.(529-531)tCg>tGg	p.S177W	DOCK5_uc003xek.3_Intron|EBF2_uc003xet.2_Missense_Mutation_p.S177W	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	177					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GACTGGGTCCGATGGAGTCTC	0.388000														100			15		0	0	0.000958276	0	0
MCM5	4174	broad.mit.edu	37	22	35806777	35806777	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:35806777A>G	uc003anu.4	+	6	887	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	MCM5_uc003anv.4_Missense_Mutation_p.I222V|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Missense_Mutation_p.I49V	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	265					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|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGGGTTACCATCATGGGCAT	0.557000														90			43		0	0	0.000781405	0	0
KIF19	124602	broad.mit.edu	37	17	72338804	72338804	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:72338804C>G	uc002jkm.4	+	3	405	c.267C>G	c.(265-267)atC>atG	p.I89M	KIF19_uc002jkj.2_Missense_Mutation_p.I89M|KIF19_uc002jkk.2_Missense_Mutation_p.I89M|KIF19_uc002jkl.2_Missense_Mutation_p.I89M	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	89	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCCTCATCGAGGGCGTCA	0.622000														31			32		0	0	0.000814825	0	0
NR2F6	2063	broad.mit.edu	37	19	17355929	17355929	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:17355929G>A	uc002nfq.3	-	0	223	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_005234	NP_005225	P10588	NR2F6_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 6 (NR2F6), mRNA.	34					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ACCGGGGGGCGAGGCCGAGTC	0.771000														4			4		0	0	0.00024832	0	0
VCAN	1462	broad.mit.edu	37	5	82817031	82817031	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:82817031C>G	uc003kii.3	+	6	3262	c.2906C>G	c.(2905-2907)tCt>tGt	p.S969C	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S969C|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	969	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATGTAGACTCTTCCCATACC	0.433000														74			7		0	0	0.000274275	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101971025	101971025	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:101971025G>C	uc022cbh.1	+	0	1228	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.E410Q|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.E410Q	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	410						cytoplasm	protein binding										CTGTGAATCTGAGCCAGGAAC	0.562000														145			5		0	0	0.00198382	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691364	39691364	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:39691364G>A	uc002okq.1	+	5	815	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	266	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						ACGGGTGACCGACTCCTCCGT	0.617000														191			48		0	0	0.000781405	0	0
FGA	2243	broad.mit.edu	37	4	155505888	155505888	+	Silent	SNP	G	A	A	rs142544370	byFrequency	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:155505888G>A	uc003iod.1	-	5	2047	c.1989C>T	c.(1987-1989)tgC>tgT	p.C663C		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	663	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCTTGATCGCAATAAACAG	0.433000														30			12		0	0	0.00185496	0	0
ATG9B	285973	broad.mit.edu	37	7	150720230	150720230	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:150720230G>A	uc011kvc.2	-	3	799	c.723C>T	c.(721-723)ctC>ctT	p.L241L	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	241					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTTGGCAAAGAGAACATTGT	0.532000														238			53		0	0	0.000781405	0	0
MIB1	57534	broad.mit.edu	37	18	19399507	19399507	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr18:19399507G>A	uc002ktq.3	+	11	1729	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N	MIB1_uc002ktp.3_Missense_Mutation_p.D216N	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	577					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GAAACGTGATGATATCCTAGC	0.368000														168			13		0	0	0.00136819	0	0
FAM181B	220382	broad.mit.edu	37	11	82444012	82444012	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:82444012C>T	uc001ozp.3	-	0	895	c.760G>A	c.(760-762)Gac>Aac	p.D254N		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	254	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						TTCTCCAGGTCGCCCAAGCTC	0.731000														5			4		0	0	0.00024832	0	0
PCSK7	9159	broad.mit.edu	37	11	117097976	117097976	+	Silent	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:117097976C>A	uc001pqr.3	-	4	867	c.666G>T	c.(664-666)gtG>gtT	p.V222V		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	222	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGCCATTCTCCACATCCGGGT	0.582000			T	IGH@	MLCLS									82			34		3.3946e-10	2.70864e-09	0.00111076	1	0
CIDEB	27141	broad.mit.edu	37	14	24775203	24775203	+	Silent	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:24775203G>C	uc001won.3	-	3	601	c.477C>G	c.(475-477)ctC>ctG	p.L159L	CIDEB_uc001woo.3_Silent_p.L159L|CIDEB_uc001wop.3_Silent_p.L159L	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	Homo sapiens cell death-inducing DFFA-like effector b (CIDEB), mRNA.	159					DNA damage response, signal transduction resulting in induction of apoptosis|apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TCATAGAGTAGAGCCCGTAGA	0.488000														66			19		0	0	0.00188189	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175820	143175820	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:143175820C>T	uc003wdc.1	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	285					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.F285F(2)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCCTCATCTTCAGCAACCTCA	0.502000														61			14		0	0	0.00185496	0	0
MAP1B	4131	broad.mit.edu	37	5	71495628	71495628	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:71495628C>G	uc003kbw.4	+	4	6687	c.6446C>G	c.(6445-6447)tCa>tGa	p.S2149*	MAP1B_uc010iyw.1_Nonsense_Mutation_p.S2166*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.S2023*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.S2023*	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2149						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTCCCACCTCAGTCAGCGAG	0.587000														54			7		0	0	0.000157383	0	0
HUWE1	10075	broad.mit.edu	37	X	53641559	53641559	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:53641559C>T	uc004dsp.3	-	22	2599	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	733					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTACTTCCTCTTCCTCCTCA	0.473000														170			94		0	0	0.000781405	0	0
PLK4	10733	broad.mit.edu	37	4	128813651	128813651	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:128813651G>C	uc003ifo.3	+	9	2444	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	PLK4_uc011cgs.2_Missense_Mutation_p.E692Q|PLK4_uc011cgt.2_Missense_Mutation_p.E683Q	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	724					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TGCTGATTTTGAGGTTTGGTT	0.318000														34			7		0	0	0.00198382	0	0
GON4L	54856	broad.mit.edu	37	1	155723194	155723194	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:155723194G>C	uc001flz.2	-	28	5740	c.5643C>G	c.(5641-5643)agC>agG	p.S1881R	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.S1881R|GON4L_uc009wrh.1_Missense_Mutation_p.S1881R|GON4L_uc001fma.1_Missense_Mutation_p.S1881R	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1881					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTAGGATTTGCTGTCACAGA	0.582000														218			12		0	0	0.00136819	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043525	71043525	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:71043525C>T	uc002shf.3	-	3	1065	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	CLEC4F_uc010yqv.1_Missense_Mutation_p.E330K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	330					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ACGTGAATTTCATCACCAGCT	0.423000														113			10		0	0	0.000442599	0	0
CAMTA2	23125	broad.mit.edu	37	17	4873762	4873762	+	Missense_Mutation	SNP	C	T	T	rs145978879	byFrequency	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:4873762C>T	uc010cku.2	-	16	3359	c.2947G>A	c.(2947-2949)Gtg>Atg	p.V983M	SPAG7_uc002gae.3_5'Flank|SPAG7_uc002gaf.3_5'Flank|CAMTA2_uc002gag.2_Missense_Mutation_p.V959M|CAMTA2_uc002gah.2_Missense_Mutation_p.V960M|CAMTA2_uc002gai.2_Missense_Mutation_p.V962M|CAMTA2_uc010ckv.1_Missense_Mutation_p.V607M	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	960					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGCAGCCCCACGAAGTCCTCT	0.592000														65			28		0	0	0.00209593	0	0
RARG	5916	broad.mit.edu	37	12	53607847	53607847	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:53607847A>G	uc001scf.3	-	6	1301	c.809T>C	c.(808-810)aTc>aCc	p.I270T	RARG_uc001scd.3_Missense_Mutation_p.I259T|RARG_uc010sob.2_Missense_Mutation_p.I248T|RARG_uc001scg.3_Missense_Mutation_p.I198T|RARG_uc010soc.2_Missense_Mutation_p.I149T|RARG_uc001sce.3_Missense_Mutation_p.I270T|RARG_uc010sod.2_Missense_Mutation_p.I307T	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	270	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ACTTACCAGGATATCTAGGCA	0.532000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		195			123		0	0	0.000781405	0	0
CCDC80	151887	broad.mit.edu	37	3	112324296	112324296	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:112324296G>A	uc003dzf.3	-	7	3039	c.2821C>T	c.(2821-2823)Cat>Tat	p.H941Y	CCDC80_uc011bhv.2_Missense_Mutation_p.H914Y|CCDC80_uc003dzg.3_Missense_Mutation_p.H941Y	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	941										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TAACTCTCATGATGACGGTAG	0.483000														59			21		0	0	0.00278032	0	0
KALRN	8997	broad.mit.edu	37	3	124103778	124103778	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:124103778G>C	uc003ehg.3	+	10	1978	c.1851G>C	c.(1849-1851)aaG>aaC	p.K617N	KALRN_uc010hrv.1_Missense_Mutation_p.K617N|KALRN_uc003ehf.1_Missense_Mutation_p.K617N|KALRN_uc011bjy.1_Missense_Mutation_p.K617N|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	617					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGATCTACAAGGCAGCTCGAC	0.567000														36			35		0	0	0.00058488	0	0
AKAP13	11214	broad.mit.edu	37	15	86269660	86269660	+	Silent	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:86269660C>G	uc002blv.1	+	26	6935	c.6765C>G	c.(6763-6765)ctC>ctG	p.L2255L	AKAP13_uc002blu.1_Silent_p.L2259L|AKAP13_uc010bnf.1_Silent_p.L876L|AKAP13_uc002blw.1_Silent_p.L720L|AKAP13_uc002blx.1_Silent_p.L500L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2255	Interaction with ESR1.|PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGTTCTTCTCACTGACATTT	0.338000														75			27		0	0	0.000878237	0	0
OR9G9	390174	broad.mit.edu	37	11	56468116	56468116	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:56468116A>G	uc010rjn.2	+	0	253	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AGTGACCTGCATCTCTGAAGA	0.507000														120			19		0	0	0.000958276	0	0
CALHM1	255022	broad.mit.edu	37	10	105215149	105215149	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:105215149G>A	uc001kxe.2	-	1	1051	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CALHM2_uc001kxa.3_5'Flank|CALHM2_uc001kxc.3_5'Flank|CALHM2_uc001kxb.3_5'Flank|CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	304						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGCCAGCTCGTGAGCAGCCT	0.677000														31			16		0	0	0.000566183	0	0
TRUB1	142940	broad.mit.edu	37	10	116734920	116734920	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:116734920A>G	uc001lcd.3	+	7	893	c.832A>G	c.(832-834)Acc>Gcc	p.T278A	TRUB1_uc010qsl.2_Missense_Mutation_p.T180A	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	278					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		GCTGACCCGAACCAAACAGGG	0.408000														72			22		0	0	0.00229938	0	0
CMYA5	202333	broad.mit.edu	37	5	79031337	79031337	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79031337G>A	uc003kgc.3	+	1	6821	c.6749G>A	c.(6748-6750)aGa>aAa	p.R2250K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2250						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GATGAACCCAGAGGTACTTTA	0.343000														55			68		0	0	0.000781405	0	0
OR51G2	81282	broad.mit.edu	37	11	4936273	4936273	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:4936273G>A	uc001lzr.1	-	0	621	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGAGACGATGACAAACATGC	0.512000														15			11		0	0	0.000673444	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451603	37451603	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:37451603G>A	uc021ppc.1	+	15	1858	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E587K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	643						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTGCCTTCGAGGTATTTAG	0.333000														154			41		0	0	0.000781405	0	0
PCDH20	64881	broad.mit.edu	37	13	61986467	61986467	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:61986467C>T	uc001vid.4	-	1	2129	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	PCDH20_uc010thj.2_Missense_Mutation_p.G589R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	562	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G588W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTCAGAATTCCTGTGACACTG	0.458000														81			22		0	0	0.00229938	0	0
DDX31	64794	broad.mit.edu	37	9	135545615	135545615	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:135545615G>C	uc004cbq.1	-	0	174	c.22C>G	c.(22-24)Cag>Gag	p.Q8E	DDX31_uc010mzu.1_Missense_Mutation_p.Q8E|DDX31_uc004cbr.1_Missense_Mutation_p.Q8E|DDX31_uc004cbs.2_Missense_Mutation_p.Q8E|GTF3C4_uc010mzv.3_5'Flank|GTF3C4_uc010mzw.3_5'Flank	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	8						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAATGCCTCTGAGAAGCGAGA	0.622000														6			12		0	0	0.00244969	0	0
FAF2	23197	broad.mit.edu	37	5	175875413	175875413	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:175875413C>T	uc003mej.4	+	0	58	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	2					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						GGCAAAATGGCGGCGCCTGAG	0.652000											OREG0017076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			5		0	0	0.000602214	0	0
RAG2	5897	broad.mit.edu	37	11	36614896	36614896	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:36614896C>T	uc021qge.1	-	0	823	c.823G>A	c.(823-825)Ggt>Agt	p.G275S	RAG2_uc021qgc.1_Missense_Mutation_p.G275S|RAG2_uc021qgd.1_Missense_Mutation_p.G275S|RAG2_uc001mwv.4_Missense_Mutation_p.G275S|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	275					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TGATAGCCACCAACAATAACA	0.428000									Familial Hemophagocytic Lymphohistiocytosis					19			18		0	0	0.00074312	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161561	1161561	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:1161561C>T	uc002weq.1	-	1	1374	c.702G>A	c.(700-702)ggG>ggA	p.G234G	TMEM74B_uc010gaa.1_Silent_p.G234G	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN	Homo sapiens transmembrane protein 74B (TMEM74B), mRNA.	234						integral to membrane	protein binding										GGGCCTGGCCCCCATCCCCAT	0.592000														75			8		0	0	0.000978159	0	0
TJAP1	93643	broad.mit.edu	37	6	43468508	43468508	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:43468508G>T	uc003ovd.2	+	4	502	c.126G>T	c.(124-126)atG>atT	p.M42I	TJAP1_uc003ovf.2_Missense_Mutation_p.M42I|TJAP1_uc003ove.2_Missense_Mutation_p.M42I|TJAP1_uc003ovc.2_Missense_Mutation_p.M42I|TJAP1_uc010jyp.2_Missense_Mutation_p.M1I|TJAP1_uc011dvh.1_Missense_Mutation_p.M42I|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.M42I|TJAP1_uc011dvi.1_Missense_Mutation_p.M42I|TJAP1_uc011dvj.2_5'Flank|TJAP1_uc003ovi.2_5'Flank	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	42						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGAAAGGATGAAGTGAGTAT	0.537000														17			50		2.43277e-16	1.95741e-15	0.000781405	1	0
BC039356	0	broad.mit.edu	37	1	227618233	227618233	+	RNA	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:227618233C>G	uc001hqv.3	+	3		c.1468C>G								Homo sapiens cDNA clone IMAGE:5270051.																		CACCATGTCTCTAGTGATCCC	0.507000														26			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140856910	140856910	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:140856910G>A	uc003lkv.2	+	0	1342	c.1227G>A	c.(1225-1227)ttG>ttA	p.L409L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.L409L|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	406	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCACTTTGAAAACCAGTG	0.552000														41			10		0	0	0.00185496	0	0
GALP	85569	broad.mit.edu	37	19	56694579	56694579	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:56694579G>C	uc002qmo.1	+	4	375	c.293G>C	c.(292-294)gGa>gCa	p.G98A	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	98					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCAGAGATTGGAGGTAAAGCC	0.507000														52			26		0	0	0.00106085	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118397	118397	+	RNA	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrGL000205.1:118397C>T	uc002kgk.4	+	0		c.1775C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GACAACCTCCCAACAGTGGTA	0.572000														131			16		0	0	0.000566183	0	0
ZNF347	84671	broad.mit.edu	37	19	53643875	53643875	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:53643875G>T	uc002qbc.2	-	4	2636	c.2209C>A	c.(2209-2211)Cct>Act	p.P737T	ZNF347_uc002qbb.2_Missense_Mutation_p.P736T|ZNF347_uc010eql.2_Missense_Mutation_p.P737T	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAAGGTTTTTTTCCA	0.423000														120			25		2.44723e-14	1.96084e-13	0.000720815	1	0
FLG	2312	broad.mit.edu	37	1	152281276	152281276	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:152281276G>C	uc001ezu.1	-	2	6122	c.6086C>G	c.(6085-6087)tCt>tGt	p.S2029C		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2029	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCAGATGAAGCTTG	0.542000									Ichthyosis					488			400		0	0	0.000781405	0	0
MTMR2	8898	broad.mit.edu	37	11	95621408	95621408	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:95621408G>A	uc001pfu.3	-	1	351	c.98C>T	c.(97-99)tCa>tTa	p.S33L	MTMR2_uc001pfv.3_5'UTR|MTMR2_uc001pfs.3_5'UTR|MTMR2_uc001pft.3_5'UTR|MTMR2_uc010ruj.1_Missense_Mutation_p.S16L	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	33	Ser-rich.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAATTCTCTGAATGAGAAGT	0.358000														11			7		0	0	0.00198382	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6052355	6052355	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:6052355C>T	uc010idb.1	-	13	2344	c.1858G>A	c.(1858-1860)Gag>Aag	p.E620K	JAKMIP1_uc010idc.1_Missense_Mutation_p.E435K|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	392	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTGGTTCTCGGGGAAGGTG	0.542000														3			4		0	0	0.00198382	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426809	71426809	+	Nonsense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:71426809G>C	uc004eaq.1	-	1	1905	c.1808C>G	c.(1807-1809)tCa>tGa	p.S603*	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Nonsense_Mutation_p.S480*	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	603	Helicase C-terminal.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCTTATTAATGAGTCCTTGAA	0.348000														133			9		0	0	0.000978159	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061939	64061939	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:64061939G>A	uc001srp.1	-	0	416	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	79					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAGGGGCCGAGAAGAAAGGTC	0.602000														85			19		0	0	0.00152264	0	0
UBTF	7343	broad.mit.edu	37	17	42293042	42293042	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:42293042C>T	uc010czs.3	-	4	750	c.454G>A	c.(454-456)Gag>Aag	p.E152K	UBTF_uc002igc.3_Missense_Mutation_p.E152K|UBTF_uc002igd.3_Missense_Mutation_p.E152K|UBTF_uc010czt.3_Missense_Mutation_p.E152K|UBTF_uc002ige.2_Missense_Mutation_p.E152K	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	152					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.E152E(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCGGAAGCTCCTTGTATTTC	0.547000														95			11		0	0	0.00136819	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943473	158943473	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158943473G>A	uc001ftb.3	+	7	1646	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	PYHIN1_uc001ftc.3_Missense_Mutation_p.A457T|PYHIN1_uc001ftd.3_Intron|PYHIN1_uc001fte.3_Intron	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	466					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTCATCGCCTGCAAACTTTAG	0.448000														44			43		0	0	0.000680045	0	0
ACTR2	10097	broad.mit.edu	37	2	65492181	65492181	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:65492181G>A	uc002sdp.3	+	8	1116	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	ACTR2_uc010yqf.1_Missense_Mutation_p.E241K|ACTR2_uc002sdq.3_Missense_Mutation_p.E296K|ACTR2_uc010yqg.2_Missense_Mutation_p.E244K	NM_001005386	NP_001005386	P61160	ARP2_HUMAN	Homo sapiens ARP2 actin-related protein 2 homolog (yeast) (ACTR2), transcript variant 1, mRNA.	296					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	ATP binding|actin binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						TTCTAGATCTGAATTCTACAA	0.428000														89			54		0	0	0.000781405	0	0
SGCD	6444	broad.mit.edu	37	5	156186311	156186311	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:156186311C>T	uc003lwc.4	+	8	1302	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SGCD_uc003lwd.4_Silent_p.F260F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	260			E -> K (in LGMD2F).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488000														75			37		0	0	0.00128727	0	0
PRC1	9055	broad.mit.edu	37	15	91524227	91524227	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:91524227C>T	uc002bqm.3	-	5	866	c.709G>A	c.(709-711)Gag>Aag	p.E237K	PRC1_uc002bqn.3_Missense_Mutation_p.E237K|PRC1_uc002bqo.3_Missense_Mutation_p.E237K|PRC1_uc010uqs.2_Missense_Mutation_p.E196K|PRC1_uc010uqt.1_3'UTR	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	237	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	p.E237Q(2)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGCAGCCCCTCACACACTGCT	0.507000														95			14		0	0	0.00244969	0	0
ST7L	54879	broad.mit.edu	37	1	113124686	113124686	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:113124686C>T	uc001ecd.3	-	8	1302	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Missense_Mutation_p.E150K|ST7L_uc010owg.2_Missense_Mutation_p.E268K|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Missense_Mutation_p.E316K|ST7L_uc001ece.3_Missense_Mutation_p.E333K|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.E268K|ST7L_uc001ech.3_Missense_Mutation_p.E316K|ST7L_uc001eci.3_Missense_Mutation_p.E333K|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.E316K	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	333					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGATTTTCATGGATGTTC	0.343000														72			30		0	0	0.00209593	0	0
BAI1	575	broad.mit.edu	37	8	143603450	143603450	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:143603450G>A	uc003ywm.3	+	19	3332	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1050					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	p.R1050C(1)		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)					CGCCTCATCCGCAAGCGCTTC	0.652000														34			24		0	0	0.00127121	0	0
BIRC6	57448	broad.mit.edu	37	2	32626579	32626579	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:32626579C>T	uc010ezu.3	+	7	1440	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	436					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTGTACAACAGCTTATTCT	0.378000														56			30		0	0	0.00178596	0	0
PTPRF	5792	broad.mit.edu	37	1	44063522	44063522	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:44063522C>T	uc001cjr.3	+	11	2257	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	PTPRF_uc001cjs.3_Silent_p.I639I|PTPRF_uc001cju.3_Silent_p.I210I|PTPRF_uc009vwt.3_Silent_p.I210I|PTPRF_uc001cjv.3_Intron|PTPRF_uc001cjw.3_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	639	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGCGTTATCACCCAGTACT	0.682000														13			15		0	0	0.000422831	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729833	37729833	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:37729833G>A	uc004aag.1	+	7	765	c.721G>A	c.(721-723)Gag>Aag	p.E241K	FRMPD1_uc004aah.1_Missense_Mutation_p.E241K|FRMPD1_uc011lqm.2_Missense_Mutation_p.E63K|FRMPD1_uc011lqn.2_Missense_Mutation_p.E110K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	241	FERM.					cytoskeleton|cytosol|plasma membrane		p.E240K(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCTGCACGAAGAGGAACTCAT	0.602000														8			30		0	0	0.00178596	0	0
UTP14C	9724	broad.mit.edu	37	13	52603705	52603705	+	Silent	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:52603705G>C	uc001vgb.3	+	1	1327	c.765G>C	c.(763-765)gtG>gtC	p.V255V	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Silent_p.V255V	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	255					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ACAAAGTCGTGAAGAAAGGAA	0.433000														73			3		0	0	6.4e-05	0	0
FRMD1	79981	broad.mit.edu	37	6	168457843	168457843	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:168457843C>G	uc003qwo.4	-	10	1649	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	FRMD1_uc003qwm.4_Missense_Mutation_p.K322N|FRMD1_uc011egs.2_Missense_Mutation_p.K299N|FRMD1_uc011egt.2_Missense_Mutation_p.K463N|FRMD1_uc003qwn.4_Missense_Mutation_p.K460N	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	528						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGCTGGACCTCTTGCTGGGGA	0.672000														1			5		0	0	0.00198382	0	0
MATN2	4147	broad.mit.edu	37	8	99019720	99019720	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:99019720C>T	uc003yic.3	+	9	1695	c.1464C>T	c.(1462-1464)tgC>tgT	p.C488C	MATN2_uc010mbh.1_Silent_p.C447C|MATN2_uc003yid.3_Silent_p.C488C|MATN2_uc003yie.1_Silent_p.C488C|MATN2_uc010mbi.1_Silent_p.C321C	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	488	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGATTACTGCCTGCTGAGTG	0.547000														36			23		0	0	0.000586117	0	0
LRP5	4041	broad.mit.edu	37	11	68197137	68197137	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:68197137C>T	uc001ont.3	+	16	3807	c.3732C>T	c.(3730-3732)ctC>ctT	p.L1244L	LRP5_uc009ysg.3_Silent_p.L654L	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1244	EGF-like 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCCACCTCGTGCTCCTGC	0.592000														420			17		0	0	0.00074312	0	0
SKAP1	8631	broad.mit.edu	37	17	46239837	46239837	+	Silent	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:46239837C>G	uc002ini.1	-	10	1084	c.972G>C	c.(970-972)ctG>ctC	p.L324L	SKAP1_uc002inj.1_Silent_p.L323L|SKAP1_uc010dbd.1_Silent_p.L229L|SKAP1_uc010dbe.1_Silent_p.L324L	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	324	SH3.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding	p.L324L(2)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTACCTTGCTCAGAATACGGA	0.433000														56			4		0	0	0.00116845	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256140	15256140	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:15256140C>T	uc001iob.3	-	7	1454	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	483						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTGTAGTCATCATTGCCCGAG	0.483000														183			21		0	0	0.00188189	0	0
SULT1C2	6819	broad.mit.edu	37	2	108921890	108921890	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:108921890G>T	uc002tdy.3	+	6	1070	c.617G>T	c.(616-618)cGg>cTg	p.R206L	SULT1C2_uc010ywp.1_Missense_Mutation_p.R121L|SULT1C2_uc010ywq.2_Missense_Mutation_p.R220L|SULT1C2_uc002tdx.3_Missense_Mutation_p.R217L	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	206					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	p.E206G(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAAATTCGGAAGGTGATG	0.403000														38			4		0.000602214	0.00470755	0.000602214	1	0
C5	727	broad.mit.edu	37	9	123783919	123783919	+	Silent	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:123783919C>G	uc004bkv.3	-	10	1200	c.1170G>C	c.(1168-1170)ctG>ctC	p.L390L	C5_uc010mvm.1_Silent_p.L390L|C5_uc010mvn.1_Silent_p.L390L	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	390					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTGTGCATTCAGTGTTACTG	0.403000														43			3		0	0	0.000602214	0	0
CDHR1	92211	broad.mit.edu	37	10	85956359	85956359	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:85956359G>A	uc001kcv.3	+	2	355	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CDHR1_uc001kcw.3_Missense_Mutation_p.D84N	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	84	Cadherin 1.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTTTTCTGTTGACCCCACTTT	0.562000														38			57		0	0	0.000781405	0	0
HTR3A	3359	broad.mit.edu	37	11	113856896	113856896	+	Splice_Site	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:113856896A>G	uc010rxb.2	+	6	956	c.723_splice	c.e6+1	p.Y241_splice	HTR3A_uc010rxa.2_Splice_Site_p.Y241_splice|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Splice_Site_p.Y220_splice	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	235					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ATGAAGTTCTATGTGAGTGGG	0.463000														41			66		0	0	0.000781405	0	0
MARK3	4140	broad.mit.edu	37	14	103932113	103932113	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:103932113G>C	uc001ymz.4	+	7	1426	c.760G>C	c.(760-762)Gat>Cat	p.D254H	MARK3_uc001ymx.4_Missense_Mutation_p.D254H|MARK3_uc001ymw.4_Missense_Mutation_p.D254H|MARK3_uc001yna.4_Missense_Mutation_p.D254H|MARK3_uc001ymy.4_Intron|MARK3_uc010awp.3_Missense_Mutation_p.D277H|MARK3_uc010tyb.2_Missense_Mutation_p.D65H|MARK3_uc021sef.1_Missense_Mutation_p.D65H	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	254	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACTTCCCTTTGATGGGCAAAA	0.403000														38			8		0	0	0.000274275	0	0
SYNE1	23345	broad.mit.edu	37	6	152557320	152557320	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152557320C>T	uc021zhb.1	-	107	20541	c.20318G>A	c.(20317-20319)gGa>gAa	p.G6773E	SYNE1_uc003qos.4_Missense_Mutation_p.G1297E|SYNE1_uc003qot.4_Missense_Mutation_p.G6702E|SYNE1_uc003qou.4_Missense_Mutation_p.G6773E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6773					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCAGCACTCTCCAAGTTGATT	0.373000										HNSCC(10;0.0054)				22			49		0	0	0.000781405	0	0
C10orf10	11067	broad.mit.edu	37	10	45472882	45472882	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:45472882G>A	uc001jbr.4	-	1	887	c.597C>T	c.(595-597)ctC>ctT	p.L199L	RASSF4_uc001jbo.3_Intron|RASSF4_uc001jbp.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron|C10orf10_uc021ppn.1_Silent_p.L199L	NM_007021	NP_008952	Q9NTK1	DEPP_HUMAN	Homo sapiens chromosome 10 open reading frame 10 (C10orf10), mRNA.	199						mitochondrion				lung(1)	1						AGAGTGTTCTGAGGACACTGC	0.607000														62			21		0	0	0.00188189	0	0
STAG2	10735	broad.mit.edu	37	X	123202456	123202456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:123202456C>T	uc004eua.3	+	23	2712	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*	STAG2_uc004etz.4_Nonsense_Mutation_p.Q770*|STAG2_uc004eub.3_Nonsense_Mutation_p.Q770*|STAG2_uc004euc.3_Nonsense_Mutation_p.Q770*|STAG2_uc004eud.3_Nonsense_Mutation_p.Q770*|STAG2_uc004eue.3_Nonsense_Mutation_p.Q770*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	770					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGTATTTTGTCAGATATGTCA	0.284000														90			44		0	0	0.000781405	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220896	50220896	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:50220896G>C	uc003cyj.3	+	11	1330	c.1132G>C	c.(1132-1134)Gat>Cat	p.D378H	SEMA3F_uc003cyk.3_Missense_Mutation_p.D347H	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	378	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CTCCATGGCTGATATTCGCAT	0.632000														52			7		0	0	0.00198382	0	0
EIF4G3	8672	broad.mit.edu	37	1	21188793	21188793	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:21188793C>G	uc001bec.3	-	17	3127	c.2871G>C	c.(2869-2871)gaG>gaC	p.E957D	EIF4G3_uc010odi.2_Missense_Mutation_p.E561D|EIF4G3_uc010odj.2_Missense_Mutation_p.E956D|EIF4G3_uc009vpz.3_Missense_Mutation_p.E677D|EIF4G3_uc001bef.3_Missense_Mutation_p.E993D|EIF4G3_uc001bee.3_Missense_Mutation_p.E963D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	957	MIF4G.|eIF3/EIF4A-binding (By similarity).				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCACAATTTTCTCCATCTGAT	0.353000														58			6		0	0	0.00116845	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	G	G	rs121913485		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:1806099A>G	uc003gdr.3	+	8	1374	c.1118A>G	c.(1117-1119)tAt>tGt	p.Y373C	FGFR3_uc003gdu.2_Missense_Mutation_p.Y375C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.Y373C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	373			Y -> C (in KERSEB and TD1).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(909)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					23			138		0	0	0.000781405	0	0
IKZF3	22806	broad.mit.edu	37	17	37949078	37949078	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:37949078C>T	uc002hsu.3	-	3	334	c.272G>A	c.(271-273)aGa>aAa	p.R91K	IKZF3_uc002htd.3_Missense_Mutation_p.R57K|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Missense_Mutation_p.R57K|IKZF3_uc010cwe.3_Missense_Mutation_p.R91K|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Missense_Mutation_p.R91K|IKZF3_uc002hsx.3_Missense_Mutation_p.R91K|IKZF3_uc002hsy.3_Missense_Mutation_p.R91K|IKZF3_uc002hsz.3_Missense_Mutation_p.R91K|IKZF3_uc002hta.3_Missense_Mutation_p.R91K|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Intron|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	91					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E92fs*29(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATTATATTCTCTTGAATAGCT	0.383000														67			11		0	0	0.000978159	0	0
COL1A2	1278	broad.mit.edu	37	7	94035021	94035021	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:94035021G>A	uc003ung.1	+	10	994	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfh.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	175					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGACTTCCTGGCTTCAAAGG	0.373000										HNSCC(75;0.22)				163			42		0	0	0.000781405	0	0
HRH4	59340	broad.mit.edu	37	18	22048831	22048831	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr18:22048831C>T	uc002kvi.3	+	1	373	c.273C>T	c.(271-273)ctC>ctT	p.L91L	HRH4_uc010xbd.2_Intron|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	91						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TATTTTGGCTCACTACTGACT	0.403000														85			11		0	0	0.000978159	0	0
FSIP2	401024	broad.mit.edu	37	2	186678413	186678413	+	Missense_Mutation	SNP	A	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:186678413A>T	uc002upl.3	+	17	20236	c.20236A>T	c.(20236-20238)Ata>Tta	p.I6746L	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGAAAATTACATAAAAGAGGA	0.308000														21			10		0	0	0.000673444	0	0
EIF4A3	9775	broad.mit.edu	37	17	78120725	78120725	+	Silent	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:78120725C>G	uc010wuc.2	-	1	109	c.36G>C	c.(34-36)tcG>tcC	p.S12S	EIF4A3_uc002jxs.3_Silent_p.S12S	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	12					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCTTTCGCGCCGAGCCCGAGG	0.652000														26			6		0	0	0.00198382	0	0
KIF1B	23095	broad.mit.edu	37	1	10431203	10431203	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:10431203C>T	uc001aqx.4	+	44	5031	c.4829C>T	c.(4828-4830)tCt>tTt	p.S1610F	KIF1B_uc001aqw.4_Missense_Mutation_p.S1564F|KIF1B_uc001aqy.3_Missense_Mutation_p.S1584F|KIF1B_uc001aqz.3_Missense_Mutation_p.S1610F|KIF1B_uc001ara.3_Missense_Mutation_p.S1570F|KIF1B_uc001arb.3_Missense_Mutation_p.S1596F	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1610					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTCCAGTTGTCTGATATCTCT	0.488000														102			32		0	0	0.00111076	0	0
NLRP7	199713	broad.mit.edu	37	19	55450843	55450843	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:55450843G>A	uc002qih.4	-	3	1420	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NLRP7_uc010esk.3_Silent_p.F448F|NLRP7_uc002qig.4_Silent_p.F448F|NLRP7_uc002qii.4_Silent_p.F448F|NLRP7_uc010esl.3_Silent_p.F476F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	448	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCCGTCCAGGAACAGACGGA	0.627000														27			5		0	0	0.00116845	0	0
SLC2A13	114134	broad.mit.edu	37	12	40422219	40422219	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:40422219C>T	uc010skm.2	-	2	860	c.809G>A	c.(808-810)gGa>gAa	p.G270E	SLC2A13_uc001rmf.3_Missense_Mutation_p.G270E	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	270						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CTGAGTCTGTCCTTTCTGAAT	0.438000										HNSCC(50;0.14)				121			29		0	0	0.00283554	0	0
MAOB	4129	broad.mit.edu	37	X	43655117	43655117	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:43655117C>T	uc004dfz.4	-	6	813	c.637G>A	c.(637-639)Gga>Aga	p.G213R	MAOB_uc011mkx.2_Missense_Mutation_p.G197R|MAOB_uc011mky.2_Missense_Mutation_p.G197R	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	213					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	p.G212G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGACCAGATCCGCCCACAAAT	0.458000														67			42		0	0	0.00170553	0	0
OR4D11	219986	broad.mit.edu	37	11	59271133	59271133	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:59271133C>G	uc001noa.1	+	0	85	c.85C>G	c.(85-87)Ctt>Gtt	p.L29V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGTCTTGTTTCTTTTTTTATG	0.433000														79			5		0	0	0.000602214	0	0
HRH3	11255	broad.mit.edu	37	20	60791561	60791561	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr20:60791561G>A	uc002yci.3	-	2	1136	c.839C>T	c.(838-840)gCg>gTg	p.A280V	HRH3_uc002ycf.2_Missense_Mutation_p.A280V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	280			A -> V (in one Shy-Drager syndrome patient; rare variant with unknown pathological significance).		G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCCTACGGCCGCCTCACCCAC	0.756000														3			5		0	0	0.00198382	0	0
CLIC3	9022	broad.mit.edu	37	9	139890192	139890192	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:139890192C>G	uc004ckj.1	-	1	80	c.51G>C	c.(49-51)gaG>gaC	p.E17D		NM_004669	NP_004660	O95833	CLIC3_HUMAN	Homo sapiens chloride intracellular channel 3 (CLIC3), mRNA.	17	GST N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GACCCACGCTCTCCCCGTCCT	0.706000														3			3		0	0	0.00024832	0	0
TG	7038	broad.mit.edu	37	8	133945814	133945814	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:133945814G>A	uc003ytw.3	+	23	4866	c.4825G>A	c.(4825-4827)Gag>Aag	p.E1609K	TG_uc010mdw.3_Missense_Mutation_p.E368K|TG_uc011ljb.2_Missense_Mutation_p.E42K	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1609					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGATTGCACAGAGGACGAGGC	0.582000														83			11		0	0	0.000978159	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633987	70633987	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:70633987C>T	uc001xly.3	-	1	1907	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	SLC8A3_uc001xlw.3_Missense_Mutation_p.E385K|SLC8A3_uc001xlx.3_Missense_Mutation_p.E385K|SLC8A3_uc001xlz.3_Missense_Mutation_p.E385K|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	385					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGTGCACCTCGCTCATGCTG	0.512000														47			67		0	0	0.000781405	0	0
COPB1	1315	broad.mit.edu	37	11	14501121	14501121	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:14501121G>C	uc001mlh.2	-	10	1598	c.1352C>G	c.(1351-1353)tCt>tGt	p.S451C	COPB1_uc001mli.2_Missense_Mutation_p.S451C|COPB1_uc001mlg.2_Missense_Mutation_p.S451C	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	451					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTACTTGACAGATTTAATAGC	0.343000														21			60		0	0	0.000781405	0	0
TFR2	7036	broad.mit.edu	37	7	100239125	100239125	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:100239125C>T	uc003uvv.1	-	0	77	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	TFR2_uc003uvw.1_Missense_Mutation_p.R3Q	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	3					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCCCAAAGCCGCTCCATGCT	0.587000														27			5		0	0	0.000602214	0	0
CHST3	9469	broad.mit.edu	37	10	73765714	73765714	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:73765714C>G	uc001jsn.3	+	1	554	c.114C>G	c.(112-114)atC>atG	p.I38M	ANAPC16_uc021psn.1_Intron	NM_004273	NP_004264	Q7LGC8	CHST3_HUMAN	Homo sapiens carbohydrate (chondroitin 6) sulfotransferase 3 (CHST3), mRNA.	38					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						TTGTCTTCATCGAAAAGGAAA	0.478000														116			7		0	0	0.000274275	0	0
CMYA5	202333	broad.mit.edu	37	5	79030983	79030983	+	Missense_Mutation	SNP	G	C	C	rs79193094		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79030983G>C	uc003kgc.3	+	1	6467	c.6395G>C	c.(6394-6396)aGa>aCa	p.R2132T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2132						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCACACAAAGAAAACCCATC	0.448000														39			30		0	0	0.0024448	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23830149	23830149	+	Missense_Mutation	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:23830149G>T	uc003gqs.3	-	4	751	c.631C>A	c.(631-633)Ctc>Atc	p.L211I	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	211					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGATATTTGAGAAGCTCCGAG	0.443000														103			55		1.93748e-29	1.57206e-28	0.000781405	1	0
CAPRIN2	65981	broad.mit.edu	37	12	30906661	30906661	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:30906661C>G	uc001rji.1	-	0	788	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.E13Q|CAPRIN2_uc001rjk.4_Missense_Mutation_p.E13Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.E13Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	13					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding	p.E13K(4)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGTGAGCTCGAAACCCAAT	0.408000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			11		0	0	0.00244969	0	0
PAPLN	89932	broad.mit.edu	37	14	73720491	73720491	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:73720491C>T	uc010ttx.2	+	10	1287	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	PAPLN_uc001xnw.4_Missense_Mutation_p.S348L|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.S375L	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	375	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCACCCTGCTCAGCCTCCTGT	0.672000														83			26		0	0	0.000878237	0	0
DDX23	9416	broad.mit.edu	37	12	49231830	49231830	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:49231830C>T	uc001rsm.3	-	5	605	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 (DDX23), mRNA.	172	Glu-rich.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTTAGAGCTTCAGCCTCTCGT	0.498000														111			76		0	0	0.000781405	0	0
CMYA5	202333	broad.mit.edu	37	5	79027353	79027353	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:79027353C>T	uc003kgc.3	+	1	2837	c.2765C>T	c.(2764-2766)tCt>tTt	p.S922F		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	922						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCCATAGATCTCTAAATCTA	0.413000														38			44		0	0	0.0025221	0	0
TTC14	151613	broad.mit.edu	37	3	180324303	180324303	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:180324303G>C	uc003fkk.3	+	8	1216	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	TTC14_uc003fkl.3_Missense_Mutation_p.E362Q|TTC14_uc003fkm.2_Missense_Mutation_p.E362Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	362							RNA binding	p.E362D(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAAAGCAATAGAAGATTTTGA	0.383000														81			105		0	0	0.000781405	0	0
TTC40	54777	broad.mit.edu	37	10	134648258	134648258	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:134648258C>T	uc021qbc.1	-	47	6867	c.6766G>A	c.(6766-6768)Gaa>Aaa	p.E2256K		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	417										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCCTTCTCTTCCACCTGCAGG	0.652000														15			4		0	0	0.00024832	0	0
P2RX4	5025	broad.mit.edu	37	12	121648006	121648006	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:121648006C>T	uc001tzr.3	+	0	343	c.39C>T	c.(37-39)ttC>ttT	p.F13F	P2RX4_uc010szr.1_Non-coding_Transcript|P2RX4_uc010szs.1_Non-coding_Transcript|P2RX4_uc009zxc.3_Silent_p.F13F|P2RX4_uc010szt.2_5'UTR|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	13					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTCCTGTTCGAGTACGACA	0.706000														12			8		0	0	0.000274275	0	0
ZNF689	115509	broad.mit.edu	37	16	30616559	30616559	+	Missense_Mutation	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:30616559A>G	uc002dyx.3	-	2	849	c.529T>C	c.(529-531)Tac>Cac	p.Y177H	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGCAAGGGTAAGGCTTTTTT	0.617000														44			16		0	0	0.000566183	0	0
DDX20	11218	broad.mit.edu	37	1	112309315	112309315	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:112309315G>A	uc001ebs.3	+	10	2626	c.2269G>A	c.(2269-2271)Gac>Aac	p.D757N	DDX20_uc010owf.2_Missense_Mutation_p.D519N|DDX20_uc001ebt.3_Missense_Mutation_p.D365N	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	757					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATTGGTATGACTGTCATAG	0.478000														81			35		0	0	0.00058488	0	0
OR6N1	128372	broad.mit.edu	37	1	158735810	158735810	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158735810G>A	uc010piq.2	-	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q220H(1)|p.Q220K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CTGTGCAGATGATCTGCACAT	0.488000														90			96		0	0	0.000781405	0	0
INPP5B	3633	broad.mit.edu	37	1	38328025	38328025	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:38328025G>C	uc001ccf.1	-	17	2249	c.2212C>G	c.(2212-2214)Caa>Gaa	p.Q738E	INPP5B_uc009vvk.1_3'UTR|INPP5B_uc001ccg.1_Missense_Mutation_p.Q902E|MTF1_uc001cce.1_5'Flank|MTF1_uc009vvj.1_5'Flank	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	982					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATAAATTCTTGAGCCTTCTTC	0.453000														91			16		0	0	0.00074312	0	0
KCNT1	57582	broad.mit.edu	37	9	138594186	138594186	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:138594186G>C	uc011mdq.2	+	0	156	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Missense_Mutation_p.E28Q|SOHLH1_uc010nbe.3_5'Flank|SOHLH1_uc004cgl.3_5'Flank	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	28						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCGGACCTTCGAGTTTGACGA	0.726000														10			9		0	0	0.000274275	0	0
TRPM3	80036	broad.mit.edu	37	9	73151243	73151243	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr9:73151243G>C	uc004aid.3	-	24	4994	c.4750C>G	c.(4750-4752)Cca>Gca	p.P1584A	TRPM3_uc004ahu.3_Missense_Mutation_p.P1426A|TRPM3_uc004ahv.3_Missense_Mutation_p.P1386A|TRPM3_uc004ahw.3_Missense_Mutation_p.P1456A|TRPM3_uc004ahx.3_Missense_Mutation_p.P1443A|TRPM3_uc004ahy.3_Missense_Mutation_p.P1446A|TRPM3_uc004ahz.3_Missense_Mutation_p.P1433A|TRPM3_uc004aia.3_Missense_Mutation_p.P1431A|TRPM3_uc004aib.3_Missense_Mutation_p.P1421A|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1609						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTCGCTCTGGATGGCAGCAA	0.542000														24			58		0	0	0.000781405	0	0
KLK10	5655	broad.mit.edu	37	19	51518766	51518766	+	Silent	SNP	G	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:51518766G>T	uc002pva.3	-	4	705	c.585C>A	c.(583-585)atC>atA	p.I195I	KLK10_uc002puy.3_Silent_p.I195I|KLK10_uc002puz.3_Silent_p.I195I	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	195	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TAGGGCTCAGGATAGTGATGC	0.567000														250			53		7.10676e-39	5.79081e-38	0.000781405	1	0
GRIA1	2890	broad.mit.edu	37	5	153078520	153078520	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr5:153078520G>C	uc011dcy.2	+	9	1396	c.1369G>C	c.(1369-1371)Gcc>Ccc	p.A457P	GRIA1_uc003lva.4_Missense_Mutation_p.A447P|GRIA1_uc003luy.4_Missense_Mutation_p.A447P|GRIA1_uc003luz.4_Missense_Mutation_p.A352P|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.A367P|GRIA1_uc011dcx.2_Missense_Mutation_p.A378P|GRIA1_uc011dcz.2_Missense_Mutation_p.A457P|GRIA1_uc010jia.1_Missense_Mutation_p.A427P	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	447					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	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			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)	GGCAGAGATTGCCAAGCACGT	0.537000														48			15		0	0	0.000308642	0	0
abParts	0	broad.mit.edu	37	14	107062360	107062360	+	RNA	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:107062360A>G	uc021ser.1	-	150		c.6626T>C								Parts of antibodies, mostly variable regions.																		GACAGCGCAGATGAGGGACAG	0.612000														28			4		0	0	0.000602214	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163187	163187	+	RNA	SNP	T	C	C	rs143599805	by1000genomes	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr8:163187T>C	uc010lra.3	-	3		c.946A>G			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		TGAAAAACATTATTCTTTTAT	0.294000														29			3		0	0	6.4e-05	0	0
MB21D2	151963	broad.mit.edu	37	3	192516239	192516239	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:192516239G>C	uc011bsp.2	-	1	1733	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	471										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GATAAAGACAGAGATTGACTT	0.453000														175			5		0	0	0.000602214	0	0
CCDC18	343099	broad.mit.edu	37	1	93705376	93705376	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:93705376G>C	uc021opx.1	+	20	3065	c.2904G>C	c.(2902-2904)ttG>ttC	p.L968F	CCDC18_uc009wdl.1_Missense_Mutation_p.L603F	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	967										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCCAGGAATTGAGAGATGTAC	0.343000														37			8		0	0	0.000157383	0	0
SERPIND1	3053	broad.mit.edu	37	22	21140297	21140297	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:21140297G>A	uc002ztc.2	+	2	1256	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Missense_Mutation_p.R390Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	390					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCTAGAACTCGAGAAGTGCTT	0.423000														137			18		0	0	0.000566183	0	0
BBS2	583	broad.mit.edu	37	16	56518732	56518732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:56518732G>A	uc002ejd.2	-	16	2341	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	703					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TTATTGCTTCGAATTGCATCC	0.398000									Bardet-Biedl syndrome					48			17		0	0	0.00074312	0	0
FANCM	57697	broad.mit.edu	37	14	45642339	45642339	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:45642339C>G	uc001wwd.4	+	12	2341	c.2242C>G	c.(2242-2244)Caa>Gaa	p.Q748E	FANCM_uc010anf.3_Missense_Mutation_p.Q722E|FANCM_uc001wwe.4_Missense_Mutation_p.Q284E|FANCM_uc010ang.3_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	748					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCCTACACATCAAGTTGATCA	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					32			47		0	0	0.000781405	0	0
THSD1P1	374500	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:52864001A>G	uc001vgm.1	-	1		c.157T>C								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GAAAAAATAAAGCAATAGCTA	0.313000														34			3		0	0	0.000602214	0	0
MLLT4	4301	broad.mit.edu	37	6	168347543	168347543	+	Missense_Mutation	SNP	A	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:168347543A>C	uc021zik.1	+	25	3690	c.3371A>C	c.(3370-3372)aAa>aCa	p.K1124T	MLLT4_uc003qwb.1_Missense_Mutation_p.K1149T|MLLT4_uc003qwc.2_Missense_Mutation_p.K1165T|MLLT4_uc021zij.1_Missense_Mutation_p.K1148T|MLLT4_uc021zim.1_Missense_Mutation_p.K711T|MLLT4_uc003qwg.1_Missense_Mutation_p.K474T	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1165					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGACTGATGAAAAATAGAGCT	0.433000			T	MLL	AL									11			47		0	0	0.000781405	0	0
KSR2	283455	broad.mit.edu	37	12	118293234	118293234	+	Splice_Site	SNP	T	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:118293234T>C	uc001two.2	-	3	440	c.385_splice	c.e3+1	p.G129_splice		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	158					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTGCTCACCTGACATGTGGA	0.652000														83			3		0	0	6.4e-05	0	0
F5	2153	broad.mit.edu	37	1	169493136	169493136	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:169493136C>A	uc001ggg.1	-	19	5940	c.5795G>T	c.(5794-5796)tGg>tTg	p.W1932L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1932	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGGCTCCCAGTAACCTAA	0.373000														235			9		0.000274275	0.00215278	0.000274275	1	0
CCDC39	339829	broad.mit.edu	37	3	180337752	180337752	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:180337752G>C	uc010hxe.3	-	14	2120	c.2005C>G	c.(2005-2007)Caa>Gaa	p.Q669E	CCDC39_uc003fkn.3_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	669					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTTTTCTTGAGCAGCCTAT	0.383000														39			7		0	0	0.000274275	0	0
RBM26	64062	broad.mit.edu	37	13	79945132	79945132	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:79945132C>T	uc001vkz.2	-	4	596	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RBM26_uc001vky.2_Silent_p.E194E|RBM26_uc001vla.2_Silent_p.E194E|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	194	Arg-rich.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCTGTCCCTCTCACGAAGCC	0.428000														221			38		0	0	0.00170553	0	0
GDF2	2658	broad.mit.edu	37	10	48414216	48414216	+	Missense_Mutation	SNP	C	T	T	rs142402214	byFrequency	TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:48414216C>T	uc001jfa.1	-	1	812	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	218					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTGGTGGAGTCGGACCGGACC	0.582000														35			30		0	0	0.00209593	0	0
VWF	7450	broad.mit.edu	37	12	6167128	6167128	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:6167128G>C	uc001qnn.1	-	13	1866	c.1616C>G	c.(1615-1617)tCt>tGt	p.S539C	VWF_uc010set.1_Missense_Mutation_p.S539C	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	539	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGCCAGCCCAGAGGGGGTAAG	0.662000														60			25		0	0	0.00127121	0	0
SYNE1	23345	broad.mit.edu	37	6	152560730	152560730	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:152560730G>C	uc021zhb.1	-	105	20228	c.20005C>G	c.(20005-20007)Cag>Gag	p.Q6669E	SYNE1_uc003qos.4_Missense_Mutation_p.Q1193E|SYNE1_uc003qot.4_Missense_Mutation_p.Q6598E|SYNE1_uc003qou.4_Missense_Mutation_p.Q6669E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6669					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GCAGAAGCCTGAGCCATCAGC	0.468000										HNSCC(10;0.0054)				10			40		0	0	0.00170553	0	0
ANK3	288	broad.mit.edu	37	10	61830689	61830689	+	Nonsense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:61830689G>C	uc001jky.3	-	36	10288	c.9950C>G	c.(9949-9951)tCa>tGa	p.S3317*	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3317					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D3316N(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCATCGCTTGAATCACTGAC	0.443000														99			36		0	0	0.00111076	0	0
TAF4B	6875	broad.mit.edu	37	18	23866009	23866009	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr18:23866009C>T	uc002kvt.4	+	6	1625	c.1136C>T	c.(1135-1137)tCa>tTa	p.S379L	TAF4B_uc002kvu.4_Missense_Mutation_p.S379L|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	379					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGAAAAGTCAATTATTGTT	0.463000														13			54		0	0	0.000781405	0	0
MYH9	4627	broad.mit.edu	37	22	36696256	36696256	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:36696256C>G	uc003apg.3	-	22	3124	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q	MYH9_uc003aph.1_Missense_Mutation_p.E829Q	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	965					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GTCACCTTCTCCAGCTGCAGC	0.632000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					48			38		0	0	0.00148497	0	0
MAGI2	9863	broad.mit.edu	37	7	77885410	77885410	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:77885410C>G	uc003ugx.3	-	9	2151	c.1897G>C	c.(1897-1899)Gac>Cac	p.D633H	MAGI2_uc003ugy.3_Missense_Mutation_p.D633H|MAGI2_uc010ldx.1_Missense_Mutation_p.D242H|MAGI2_uc010ldy.1_Missense_Mutation_p.D242H|MAGI2_uc011kgr.1_Missense_Mutation_p.D465H|MAGI2_uc011kgs.1_Missense_Mutation_p.D470H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	633	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCCTGAATGTCAAGTATTTGT	0.488000														32			5		0	0	0.000602214	0	0
EML5	161436	broad.mit.edu	37	14	89161727	89161727	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr14:89161727C>T	uc021ryf.1	-	15	2665	c.2416G>A	c.(2416-2418)Gga>Aga	p.G806R	EML5_uc021ryg.1_Missense_Mutation_p.G806R|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	806						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTTTCTCTCCTTTCTTCCAG	0.338000														47			15		0	0	0.000422831	0	0
EIF4G3	8672	broad.mit.edu	37	1	21226358	21226358	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:21226358C>A	uc001bec.3	-	10	1919	c.1663G>T	c.(1663-1665)Gaa>Taa	p.E555*	EIF4G3_uc010odi.2_Nonsense_Mutation_p.E159*|EIF4G3_uc010odj.2_Nonsense_Mutation_p.E554*|EIF4G3_uc009vpz.3_Nonsense_Mutation_p.E275*|EIF4G3_uc001bef.3_Nonsense_Mutation_p.E554*|EIF4G3_uc001bee.3_Nonsense_Mutation_p.E561*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	555					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGGTCTCTTTCAGGATGAAAC	0.403000														145			46		1.8453e-21	1.49097e-20	0.0025221	1	0
OLFM4	10562	broad.mit.edu	37	13	53624805	53624805	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:53624805G>C	uc001vhl.3	+	4	1528	c.1432G>C	c.(1432-1434)Gtg>Ctg	p.V478L	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	478	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAGGAAAAAGTGCAGAGCAT	0.368000														96			16		0	0	0.000422831	0	0
TRIP10	9322	broad.mit.edu	37	19	6743264	6743264	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:6743264G>C	uc002mfs.3	+	4	471	c.405G>C	c.(403-405)gaG>gaC	p.E135D	TRIP10_uc010dux.2_Missense_Mutation_p.E135D|TRIP10_uc002mfr.3_Missense_Mutation_p.E135D|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	135	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AACAGCTGGAGAATGTGAGTT	0.582000														31			3		0	0	0.00024832	0	0
C1orf187	374946	broad.mit.edu	37	1	11775243	11775243	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:11775243C>T	uc001asr.1	+	5	1055	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	305					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		ACAAATGCTTCGATGACTGCA	0.582000														106			22		0	0	0.00278032	0	0
PTPRF	5792	broad.mit.edu	37	1	44063474	44063474	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:44063474C>T	uc001cjr.3	+	11	2209	c.1869C>T	c.(1867-1869)gtC>gtT	p.V623V	PTPRF_uc001cjs.3_Silent_p.V623V|PTPRF_uc001cju.3_Silent_p.V194V|PTPRF_uc009vwt.3_Silent_p.V194V|PTPRF_uc001cjv.3_Intron|PTPRF_uc001cjw.3_5'Flank	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	623	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCACCACGGTCCGGGTAAGTT	0.687000														10			12		0	0	0.00244969	0	0
FASLG	356	broad.mit.edu	37	1	172634825	172634825	+	Missense_Mutation	SNP	C	T	T	rs80358236		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:172634825C>T	uc001gis.3	+	3	672	c.515C>T	c.(514-516)tCt>tTt	p.S172F	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	172					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTCCTGCTTTCTGGAGTGAAG	0.433000														109			9		0	0	0.000673444	0	0
DDX20	11218	broad.mit.edu	37	1	112309171	112309171	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:112309171G>A	uc001ebs.3	+	10	2482	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	DDX20_uc010owf.2_Missense_Mutation_p.E471K|DDX20_uc001ebt.3_Missense_Mutation_p.E317K	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	709					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCAATCCAGAGAAATATCA	0.478000														72			34		0	0	0.0024448	0	0
CDC42	998	broad.mit.edu	37	1	22413329	22413329	+	Silent	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:22413329C>G	uc001bfq.3	+	5	748	c.456C>G	c.(454-456)gtC>gtG	p.V152V	CDC42_uc009vqg.1_Silent_p.V152V|CDC42_uc001bfp.3_Silent_p.V152V|CDC42_uc009vqh.3_Silent_p.V111V|CDC42_uc001bfr.3_Silent_p.V152V|CDC42_uc010odr.2_Silent_p.V197V|CDC42_uc010ods.2_Silent_p.V194V	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	152					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGAAGGCTGTCAAGTATGTGG	0.448000														148			51		0	0	0.000781405	0	0
PCDH20	64881	broad.mit.edu	37	13	61986466	61986466	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr13:61986466C>T	uc001vid.4	-	1	2130	c.1766G>A	c.(1765-1767)gGa>gAa	p.G589E	PCDH20_uc010thj.2_Missense_Mutation_p.G589E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	562	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G588W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGTCAGAATTCCTGTGACACT	0.458000														83			22		0	0	0.00188189	0	0
PRPF8	10594	broad.mit.edu	37	17	1586885	1586885	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:1586885G>C	uc002fte.3	-	2	325	c.211C>G	c.(211-213)Cga>Gga	p.R71G		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	71						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding	p.I70L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCATGGTCTCGAATGATCTTC	0.478000														68			5		0	0	0.000602214	0	0
GON4L	54856	broad.mit.edu	37	1	155723185	155723185	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:155723185G>A	uc001flz.2	-	28	5749	c.5652C>T	c.(5650-5652)taC>taT	p.Y1884Y	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Silent_p.Y1884Y|GON4L_uc009wrh.1_Silent_p.Y1884Y|GON4L_uc001fma.1_Silent_p.Y1884Y	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1884					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTTGCTCTTGTAGGATTTGC	0.572000														230			12		0	0	0.00136819	0	0
C19orf47	126526	broad.mit.edu	37	19	40832303	40832303	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:40832303T>C	uc002oni.4	-	6	642	c.641A>G	c.(640-642)aAc>aGc	p.N214S	C19orf47_uc002ong.3_Missense_Mutation_p.N73S|C19orf47_uc002onh.3_Missense_Mutation_p.N147S	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	214										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TTTGGGCATGTTGATGACGTA	0.662000														24			20		0	0	0.00229938	0	0
ANK3	288	broad.mit.edu	37	10	61830133	61830133	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:61830133G>A	uc001jky.3	-	36	10844	c.10506C>T	c.(10504-10506)ttC>ttT	p.F3502F	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3502					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q3501*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGTGTGAAGAACTGGGCCC	0.438000														43			13		0	0	0.00185496	0	0
KIF1A	547	broad.mit.edu	37	2	241661280	241661280	+	Missense_Mutation	SNP	T	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:241661280T>C	uc010fzk.3	-	43	4934	c.4687A>G	c.(4687-4689)Aca>Gca	p.T1563A	KIF1A_uc002vzy.3_Missense_Mutation_p.T1462A|KIF1A_uc002vzw.3_Missense_Mutation_p.T123A|KIF1A_uc002vzx.3_Missense_Mutation_p.T189A	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1462					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGTTGAATGTGTGCGTGAGC	0.657000														3			7		0	0	0.00198382	0	0
CDC42	998	broad.mit.edu	37	1	22413230	22413230	+	Silent	SNP	C	G	G	rs143448220		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:22413230C>G	uc001bfq.3	+	5	649	c.357C>G	c.(355-357)ctC>ctG	p.L119L	CDC42_uc009vqg.1_Silent_p.L119L|CDC42_uc001bfp.3_Silent_p.L119L|CDC42_uc009vqh.3_Silent_p.L78L|CDC42_uc001bfr.3_Silent_p.L119L|CDC42_uc010odr.2_Silent_p.L164L|CDC42_uc010ods.2_Silent_p.L161L	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	119					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAATTGATCTCAGAGATGACC	0.438000														182			59		0	0	0.000781405	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576303	158576303	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:158576303C>T	uc010pio.2	+	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGTTGCAGCTCCTTCTCTTTG	0.498000														179			30		0	0	0.001512	0	0
PEX10	5192	broad.mit.edu	37	1	2341814	2341814	+	Silent	SNP	A	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:2341814A>C	uc001ajg.3	-	1	258	c.189T>G	c.(187-189)ctT>ctG	p.L63L	PEX10_uc001ajh.3_Silent_p.L63L	NM_153818	NP_722540	O60683	PEX10_HUMAN	Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.	63					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TTCTACCTGCAAGTGTGGTGA	0.597000														24			22		0	0	0.00278032	0	0
ZZEF1	23140	broad.mit.edu	37	17	3926086	3926086	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:3926086G>C	uc002fxe.3	-	43	7193	c.7129C>G	c.(7129-7131)Cag>Gag	p.Q2377E	ZZEF1_uc002fxh.3_Missense_Mutation_p.Q691E|ZZEF1_uc002fxi.3_Missense_Mutation_p.Q612E	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2377							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAATCGGTCTGAAGGAAAGTA	0.498000														22			11		0	0	0.000673444	0	0
SERPIND1	3053	broad.mit.edu	37	22	21140328	21140328	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:21140328G>A	uc002ztc.2	+	2	1287	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Silent_p.E400E	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	400					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TCAAGCTGGAGAAGAACTACA	0.448000														143			20		0	0	0.00152264	0	0
MKI67	4288	broad.mit.edu	37	10	129910532	129910532	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:129910532C>T	uc001lke.3	-	8	2029	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	MKI67_uc001lkf.3_Missense_Mutation_p.E252K|MKI67_uc009yav.1_Missense_Mutation_p.E187K|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	612					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTAGGAACCTCTGTCTGAGAT	0.488000														61			11		0	0	0.000673444	0	0
ZNF286B	729288	broad.mit.edu	37	17	18565401	18565401	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:18565401C>T	uc010vyd.1	-	4	1669	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						GAAGGCTTTTCCACACTCACT	0.393000														10			5		0	0	0.000602214	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41099974	41099974	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr15:41099974G>A	uc001zmt.1	+	0	701	c.187G>A	c.(187-189)Gat>Aat	p.D63N	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.D63N|ZFYVE19_uc001zmv.1_Intron	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	63							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGGCCGGCGTGATCTCAGCTC	0.672000														10			15		0	0	0.000566183	0	0
KIF1B	23095	broad.mit.edu	37	1	10431286	10431286	+	Missense_Mutation	SNP	C	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:10431286C>A	uc001aqx.4	+	44	5114	c.4912C>A	c.(4912-4914)Ctg>Atg	p.L1638M	KIF1B_uc001aqw.4_Missense_Mutation_p.L1592M|KIF1B_uc001aqy.3_Missense_Mutation_p.L1612M|KIF1B_uc001aqz.3_Missense_Mutation_p.L1638M|KIF1B_uc001ara.3_Missense_Mutation_p.L1598M|KIF1B_uc001arb.3_Missense_Mutation_p.L1624M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1638					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTCCCTCTCTGGTAGACTC	0.488000														75			15		1.15088e-07	9.07024e-07	0.000422831	1	0
CEP350	9857	broad.mit.edu	37	1	180044161	180044161	+	Silent	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:180044161C>T	uc001gnt.3	+	27	5955	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L	CEP350_uc009wxl.2_Silent_p.L1857L|CEP350_uc001gnv.3_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1858						centrosome|nucleus|spindle		p.L1858P(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CCATAGGTTTCTGACAAAGCG	0.438000														24			7		0	0	0.000157383	0	0
EIF4G3	8672	broad.mit.edu	37	1	21226427	21226427	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:21226427C>T	uc001bec.3	-	10	1850	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	EIF4G3_uc010odi.2_Missense_Mutation_p.E136K|EIF4G3_uc010odj.2_Missense_Mutation_p.E531K|EIF4G3_uc009vpz.3_Missense_Mutation_p.E252K|EIF4G3_uc001bef.3_Missense_Mutation_p.E531K|EIF4G3_uc001bee.3_Missense_Mutation_p.E538K	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	532					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCTCCTCTTCAGCTTTAAGC	0.358000														105			34		0	0	0.00058488	0	0
NFIX	4784	broad.mit.edu	37	19	13201202	13201202	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:13201202C>G	uc010xmx.2	+	9	1569	c.1516C>G	c.(1516-1518)Cag>Gag	p.Q506E	NFIX_uc002mwd.3_3'UTR|NFIX_uc002mwe.3_3'UTR|NFIX_uc002mwf.3_3'UTR|NFIX_uc002mwg.2_3'UTR			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	498					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACAGCAGTCTCAGGTAGGAGA	0.622000														53			33		0	0	0.00111076	0	0
HLA-C	3107	broad.mit.edu	37	6	31324628	31324628	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr6:31324628G>A	uc003nth.2	-	1	234	c.180C>T	c.(178-180)ttC>ttT	p.F60F	HLA-C_uc003ntf.2_Silent_p.F60F|HLA-C_uc003ntg.1_5'Flank|HLA-C_uc003nti.1_5'Flank|HLA-C_uc010jsn.1_5'Flank|HLA-C_uc010jso.2_Silent_p.F32F|HLA-C_uc021yum.1_Silent_p.F71F	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	60	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTCGCTGTCGAACCTCACGA	0.652000														5			7		0	0	0.00198382	0	0
CMTM2	146225	broad.mit.edu	37	16	66614056	66614056	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:66614056G>C	uc002ept.3	+	1	573	c.413G>C	c.(412-414)aGa>aCa	p.R138T	CMTM2_uc010cdu.3_Intron	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	138	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GCCATTCATAGATACATACCC	0.483000														83			5		0	0	0.00198382	0	0
TRPV2	51393	broad.mit.edu	37	17	16330054	16330054	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:16330054G>A	uc002gpy.3	+	6	1513	c.1114G>A	c.(1114-1116)Gtt>Att	p.V372I	TRPV2_uc002gpz.3_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	372	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCGAATGGTCGTTTTGGAGCC	0.507000														22			10		0	0	0.00185496	0	0
ODZ1	10178	broad.mit.edu	37	X	123680889	123680889	+	Missense_Mutation	SNP	T	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:123680889T>A	uc010nqy.3	-	14	2550	c.2486A>T	c.(2485-2487)tAt>tTt	p.Y829F	ODZ1_uc011muj.2_Missense_Mutation_p.Y828F|ODZ1_uc004euj.3_Missense_Mutation_p.Y829F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	829					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGACTTATATAACAGTTGCT	0.403000														59			84		0	0	0.000781405	0	0
SRCAP	10847	broad.mit.edu	37	16	30749163	30749163	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:30749163C>G	uc002dze.1	+	33	8187	c.7802C>G	c.(7801-7803)tCt>tGt	p.S2601C	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2396C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2601	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AAGAACCTTTCTCTCACCCCT	0.552000														48			23		0	0	0.00229938	0	0
SPATS2	65244	broad.mit.edu	37	12	49916614	49916614	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:49916614G>C	uc001rud.2	+	11	2078	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.K363N|SPATS2_uc001ruf.2_Missense_Mutation_p.K363N	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	363						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CCCTAAAGAAGAGCATTGATT	0.448000														35			29		0	0	0.00209593	0	0
SEZ6L	23544	broad.mit.edu	37	22	26702084	26702084	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr22:26702084G>A	uc003acb.3	+	5	1684	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	SEZ6L_uc003acd.3_Silent_p.E496E|SEZ6L_uc011akd.2_Silent_p.E496E|SEZ6L_uc003ace.3_Silent_p.E496E|SEZ6L_uc011akc.2_Silent_p.E496E|SEZ6L_uc003acc.3_Silent_p.E496E|SEZ6L_uc003acf.1_Silent_p.E269E|SEZ6L_uc010gvc.1_Silent_p.E269E	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	496	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCACTTTGAGAGGCTGTTGC	0.517000														63			5		0	0	0.000602214	0	0
FGFR3	2261	broad.mit.edu	37	4	1807891	1807891	+	Missense_Mutation	SNP	G	C	C	rs28928868		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:1807891G>C	uc003gdr.3	+	13	2206	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	FGFR3_uc003gdu.2_Missense_Mutation_p.K652N|FGFR3_uc003gds.3_Missense_Mutation_p.K538N|FGFR3_uc003gdq.3_Missense_Mutation_p.K651N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	650	Protein kinase.		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).		JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.K650M(81)|p.K650E(75)|p.K650Q(5)|p.K650T(5)|p.K650N(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACTACAAGAAGACGACCAACG	0.662000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					1			13		0	0	0.00244969	0	0
SOS1	6654	broad.mit.edu	37	2	39281894	39281894	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:39281894G>A	uc002rrk.4	-	4	622	c.581C>T	c.(580-582)tCc>tTc	p.S194F	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrl.3_5'Flank	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	194					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCCTGAGGTGGAAGGCTCTTC	0.284000									Noonan syndrome					78			54		0	0	0.000781405	0	0
DIP2A	23181	broad.mit.edu	37	21	47978259	47978259	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr21:47978259G>A	uc002zjo.2	+	31	4105	c.3922G>A	c.(3922-3924)Gta>Ata	p.V1308I	DIP2A_uc011afz.1_Missense_Mutation_p.V1304I|DIP2A_uc002zjr.3_Missense_Mutation_p.V275I|DIP2A_uc002zjs.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1308					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCGCGCCGTAAGCACCAC	0.657000														10			5		0	0	0.00198382	0	0
USP29	57663	broad.mit.edu	37	19	57641187	57641187	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:57641187G>C	uc002qny.3	+	3	1500	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	USP29_uc021vci.1_Missense_Mutation_p.D382H	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	382					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGTGTTTAGACCAGCTGAA	0.368000														53			37		0	0	0.00111076	0	0
CREBZF	58487	broad.mit.edu	37	11	85375684	85375684	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:85375684G>A	uc001pas.2	-	0	499	c.236C>T	c.(235-237)tCc>tTc	p.S79F	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	79					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				CTCCTCGGGGGAGGGCGCGCG	0.701000														34			33		0	0	0.00283554	0	0
INPP5B	3633	broad.mit.edu	37	1	38338748	38338748	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:38338748G>A	uc001ccf.1	-	12	1586	c.1549C>T	c.(1549-1551)Ctg>Ttg	p.L517L	INPP5B_uc009vvk.1_Silent_p.L622L|INPP5B_uc001ccg.1_Silent_p.L681L	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	761					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCAGAACCAGAATGTCCTCA	0.438000														127			28		0	0	0.00106085	0	0
YAP1	10413	broad.mit.edu	37	11	102098224	102098224	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:102098224G>C	uc001pgt.3	+	7	1576	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D	YAP1_uc001pgu.3_Missense_Mutation_p.E380D|YAP1_uc001pgv.3_Missense_Mutation_p.E342D|YAP1_uc021qpf.1_Missense_Mutation_p.E358D|YAP1_uc010ruo.2_Missense_Mutation_p.E218D|YAP1_uc001pgw.2_Missense_Mutation_p.E220D|YAP1_uc010rup.1_Missense_Mutation_p.E161D	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	396	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		CTCGAGATGAGAGTACAGACA	0.408000														29			11		0	0	0.000978159	0	0
CASP9	842	broad.mit.edu	37	1	15844625	15844625	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:15844625G>A	uc001awn.3	-	1	643	c.398C>T	c.(397-399)tCt>tTt	p.S133F	CASP9_uc001awm.2_Missense_Mutation_p.S133F|CASP9_uc001awo.3_Missense_Mutation_p.S133F|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.S50F	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	133					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		AAATCCTCCAGAACCAATGTC	0.517000														147			30		0	0	0.0024448	0	0
PRF1	5551	broad.mit.edu	37	10	72360284	72360284	+	Silent	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr10:72360284G>A	uc009xqg.3	-	1	536	c.375C>T	c.(373-375)atC>atT	p.I125I	PRF1_uc001jrf.4_Silent_p.I125I	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	125	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTCGTTGCGGATGCTACGAG	0.627000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					27			5		0	0	0.00116845	0	0
POGZ	23126	broad.mit.edu	37	1	151377387	151377387	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:151377387G>A	uc001eyd.2	-	18	4439	c.4124C>T	c.(4123-4125)cCt>cTt	p.P1375L	POGZ_uc021oyq.1_Missense_Mutation_p.P1322L|POGZ_uc010pdb.2_Missense_Mutation_p.P1366L|POGZ_uc010pdc.2_Missense_Mutation_p.P1313L|POGZ_uc009wmv.2_Missense_Mutation_p.P1280L|POGZ_uc001eyf.2_Missense_Mutation_p.P1331L|POGZ_uc010pdd.2_Missense_Mutation_p.P866L	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1375					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCTCTTCAGGAGATGATCT	0.488000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		126			41		0	0	0.00148497	0	0
PHTF2	57157	broad.mit.edu	37	7	77539715	77539715	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr7:77539715C>G	uc003ugs.4	+	7	891	c.765C>G	c.(763-765)ttC>ttG	p.F255L	PHTF2_uc003ugo.4_Missense_Mutation_p.F217L|PHTF2_uc003ugp.3_Missense_Mutation_p.F217L|PHTF2_uc010ldv.3_Missense_Mutation_p.F217L|PHTF2_uc003ugq.4_Missense_Mutation_p.F217L|PHTF2_uc003ugr.4_Missense_Mutation_p.F221L|PHTF2_uc003ugt.4_Missense_Mutation_p.F221L|PHTF2_uc003ugu.4_Missense_Mutation_p.F217L|PHTF2_uc022agp.1_Missense_Mutation_p.F255L|PHTF2_uc003ugv.3_Missense_Mutation_p.F80L|PHTF2_uc010ldw.2_Missense_Mutation_p.F80L	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.A254T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGCTGCTTTCTTTTTATCAG	0.413000														37			7		0	0	0.00198382	0	0
MYADM	91663	broad.mit.edu	37	19	54377552	54377552	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:54377552C>T	uc002qcm.3	+	2	917	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	MYADM_uc002qcl.3_Missense_Mutation_p.L257F|MYADM_uc002qcn.3_Missense_Mutation_p.L257F|MYADM_uc002qco.3_Missense_Mutation_p.L257F|MYADM_uc002qcp.3_Missense_Mutation_p.L257F|MYADM_uc021vbb.1_Missense_Mutation_p.L257F	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	257	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CGCCCTTGTTCTCTGGCCCCT	0.622000														68			17		0	0	0.000958276	0	0
PDE6B	5158	broad.mit.edu	37	4	619524	619524	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr4:619524G>A	uc003gap.3	+	0	162	c.109G>A	c.(109-111)Gag>Aag	p.E37K	PDE6B_uc003gao.4_Missense_Mutation_p.E37K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	37					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCGGCCTGCGAGGACGGGTG	0.647000														43			14		0	0	0.00244969	0	0
C12orf42	374470	broad.mit.edu	37	12	103699754	103699754	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr12:103699754G>A	uc001tjt.2	-	4	717	c.629C>T	c.(628-630)tCt>tTt	p.S210F	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S210F|C12orf42_uc001tju.2_Missense_Mutation_p.S115F	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	210										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATACTTACCAGAATTTTTCTT	0.418000														294			6		0	0	0.00198382	0	0
KDM6A	7403	broad.mit.edu	37	X	44870205	44870205	+	Splice_Site	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:44870205G>C	uc011mkz.2	+	5	760	c.385_splice	c.e5-1	p.N129_splice	KDM6A_uc022bvi.1_Splice_Site|KDM6A_uc010nhk.2_Splice_Site_p.N129_splice|KDM6A_uc004dge.4_Splice_Site_p.N129_splice|KDM6A_uc011mla.2_Splice_Site_p.N129_splice|KDM6A_uc011mlb.2_Splice_Site_p.N129_splice|KDM6A_uc011mlc.2_Splice_Site|KDM6A_uc022bvj.1_Splice_Site_p.N129_splice|KDM6A_uc022bvk.1_Splice_Site	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	129					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0(10)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCCTTTACAGAATGCTGCCT	0.299000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""									29			26		0	0	0.000878237	0	0
AKT2	208	broad.mit.edu	37	19	40741033	40741033	+	Missense_Mutation	SNP	G	C	C			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr19:40741033G>C	uc002onf.3	-	12	1584	c.1285C>G	c.(1285-1287)Cag>Gag	p.Q429E	AKT2_uc010egs.3_Missense_Mutation_p.Q386E|AKT2_uc010xvj.2_Missense_Mutation_p.Q367E|AKT2_uc010egt.3_Missense_Mutation_p.Q367E|AKT2_uc010egu.2_Missense_Mutation_p.Q367E|AKT2_uc002one.3_Missense_Mutation_p.Q325E	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	429	AGC-kinase C-terminal.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GACGTGACCTGAGGTTTGAAG	0.617000			A		"""ovarian, pancreatic """									34			25		0	0	0.00178596	0	0
PHKA1	5255	broad.mit.edu	37	X	71886083	71886083	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:71886083G>A	uc004eax.4	-	7	1083	c.782C>T	c.(781-783)tCa>tTa	p.S261L	PHKA1_uc004eay.4_Missense_Mutation_p.S261L|PHKA1_uc011mqi.2_Missense_Mutation_p.S261L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	261					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGAAACCACTGAGAGTAGACT	0.423000														40			40		0	0	0.00170553	0	0
CAPN13	92291	broad.mit.edu	37	2	30976059	30976059	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:30976059G>A	uc021vfn.1	-	8	979	c.947C>T	c.(946-948)tCg>tTg	p.S316L	CAPN13_uc021vfm.1_Missense_Mutation_p.S316L|CAPN13_uc002rnp.1_Missense_Mutation_p.S316L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	316	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.S316S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATCTTGACACGACATCCTGTT	0.473000														60			26		0	0	0.000586117	0	0
IPO7	10527	broad.mit.edu	37	11	9451343	9451343	+	Missense_Mutation	SNP	G	A	A			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr11:9451343G>A	uc001mho.3	+	14	1856	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	572					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATATAGTGAAGAAGTTACTCC	0.353000														12			12		0	0	0.000978159	0	0
HYDIN	54768	broad.mit.edu	37	16	70896078	70896078	+	Missense_Mutation	SNP	C	T	T			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr16:70896078C>T	uc002ezr.3	-	68	11798	c.11647G>A	c.(11647-11649)Gag>Aag	p.E3883K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3884										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGGAACCCTCGGCCCAGTGG	0.562000														20			9		0	0	0.000274275	0	0
DOK6	220164	broad.mit.edu	37	18	67266711	67266711	+	Missense_Mutation	SNP	C	G	G			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr18:67266711C>G	uc002lkl.3	+	2	463	c.266C>G	c.(265-267)tCg>tGg	p.S89W		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	89	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GATGAAACATCGAAGACATTT	0.448000														21			3		0	0	6.4e-05	0	0
BMP8A	353500	broad.mit.edu	37	1	39991443	39991443	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:39991443delG	uc001cdi.3	+	6	1528	c.1182delG	c.(1180-1182)atgfs	p.M394fs	PPIEL_uc001cdj.2_5'Flank|PPIEL_uc001cdk.3_Intron	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	Homo sapiens bone morphogenetic protein 8a (BMP8A), mRNA.	394					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCGCAACATGGTGGTCAAGG	0.612													---	138	---	---	35	---					
TMEM48	55706	broad.mit.edu	37	1	54298190	54298192	+	In_Frame_Del	DEL	TTA	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:54298190_54298192delTTA	uc001cvs.3	-	2	542_544	c.251_253delTAA	c.(250-255)ataagt>agt	p.I84del	TMEM48_uc010onu.2_In_Frame_Del_p.I84del|TMEM48_uc001cvt.3_5'UTR|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	84					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						TTGAAAATACTTATTATTATTAT	0.305													---	163	---	---	7	---					
TXNIP	10628	broad.mit.edu	37	1	145440057	145440059	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr1:145440057_145440059delAAG	uc001enn.4	+	3	832_834	c.491_493delAAG	c.(490-495)aaagaa>aaa	p.E165del	TXNIP_uc010oys.2_In_Frame_Del_p.E110del	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	165					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGCTAAAAAAGAAAAGAAAGT	0.414													---	304	---	---	383	---					
CNGA3	1261	broad.mit.edu	37	2	99012521	99012522	+	Frame_Shift_Ins	INS	-	GT	GT			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr2:99012521_99012522insGT	uc010fij.3	+	7	1041_1042	c.900_901insGT	c.(898-903)aactacfs	p.N300fs	CNGA3_uc002syt.3_Frame_Shift_Ins_p.N296fs|CNGA3_uc002syu.3_Frame_Shift_Ins_p.N278fs			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	296					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAAGGACCAACTACCCCAATAT	0.450													---	71	---	---	20	---					
OXSM	54995	broad.mit.edu	37	3	25833175	25833175	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr3:25833175delT	uc003cdn.3	+	1	771	c.664delT	c.(664-666)tttfs	p.F222fs	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Frame_Shift_Del_p.F222fs|OXSM_uc011awp.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTCATTTAGATTTATAGCCCA	0.498													---	93	---	---	86	---					
MPRIP	23164	broad.mit.edu	37	17	17046031	17046031	+	Frame_Shift_Del	DEL	C	-	-	rs146439071		TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:17046031delC	uc002gqv.2	+	7	1076	c.987delC	c.(985-987)agcfs	p.S329fs	MPRIP_uc002gqu.2_Frame_Shift_Del_p.S329fs|MPRIP_uc002gqw.2_Frame_Shift_Del_p.S122fs	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	329	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCATCCAGCGACACACGCC	0.632													---	40	---	---	16	---					
KANSL1	284058	broad.mit.edu	37	17	44248974	44248974	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chr17:44248974delC	uc002ikc.3	-	1	1007	c.536delG	c.(535-537)ggafs	p.G179fs	KANSL1_uc002ikd.3_Frame_Shift_Del_p.G179fs|KANSL1_uc010dav.3_Frame_Shift_Del_p.G179fs	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	179						MLL1 complex	protein binding										AGCCCGTTTTCCCCCATTGAG	0.473													---	163	---	---	119	---					
KDM6A	7403	broad.mit.edu	37	X	44969446	44969447	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-HE-7130-01A-11D-1961-08	TCGA-HE-7130-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f6da78c-86f4-41ec-b368-485fe4865ddb	e08a90e3-a3ba-48a4-9d47-d6d40602f0e1	g.chrX:44969446_44969447delAC	uc011mkz.2	+	28	4659_4660	c.4284_4285delAC	c.(4282-4287)gaacagfs	p.E1428fs	KDM6A_uc004dge.4_Frame_Shift_Del_p.E1376fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.E1331fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.E1383fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.E1080fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.E1297fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.E1015fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1376					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Q1377*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGTGCTAGAACAGTACAAAAT	0.386			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								---	71	---	---	36	---					
