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
ARHGEF16	27237	broad.mit.edu	37	1	3389688	3389688	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:3389688G>A	uc001akg.4	+	6	1317	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARHGEF16_uc001aki.3_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E61K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	357	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGTGCTGGTCGAGGACATCAG	0.632												
MAST2	23139	broad.mit.edu	37	1	46500629	46500629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:46500629C>T	uc001cov.3	+	28	4571	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	MAST2_uc001cow.3_Missense_Mutation_p.L1429F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1430					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCACAGCCTTGACCTGCC	0.592												
CC2D1B	200014	broad.mit.edu	37	1	52820329	52820329	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:52820329A>G	uc001ctq.2	-	22	2550	c.2399T>C	c.(2398-2400)cTg>cCg	p.L800P	CC2D1B_uc001ctr.3_Missense_Mutation_p.L340P|CC2D1B_uc001cts.3_Missense_Mutation_p.L485P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	800										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAGTTTCAGGTGTGCTGT	0.567												
PIAS3	10401	broad.mit.edu	37	1	145584562	145584562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:145584562G>A	uc001eoc.1	+	11	1620	c.1529G>A	c.(1528-1530)aGt>aAt	p.S510N	PIAS3_uc001eod.1_Missense_Mutation_p.S179N	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	510					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTCCAGTCTCCCACTA	0.592												
FLG	2312	broad.mit.edu	37	1	152286200	152286200	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152286200G>T	uc001ezu.1	-	2	1198	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	388	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G387D(1)|p.G387R(1)		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)			GACTGCTGGTGGCCGGATCCA	0.577									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152323312	152323312	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152323312T>G	uc001ezw.4	-	2	7023	c.6950A>C	c.(6949-6951)cAg>cCg	p.Q2317P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2317							calcium ion binding|structural molecule activity	p.Q2317K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAACCTGTCTGTGTGGATTG	0.463												
LCE3E	353145	broad.mit.edu	37	1	152538509	152538509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152538509C>T	uc021oyz.1	-	0	176	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LCE3E_uc001faa.3_Missense_Mutation_p.R59H	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	59					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TCGGTGGTGGCGCCTGTGGTG	0.682												
CD5L	922	broad.mit.edu	37	1	157805716	157805716	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:157805716A>G	uc001frk.4	-	2	428	c.285T>C	c.(283-285)agT>agC	p.S95S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	95	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493												
ZNF124	7678	broad.mit.edu	37	1	247320190	247320190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:247320190C>T	uc001ick.3	-	3	873	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGAACTGAGACAACTGAAAGC	0.458												
PGBD2	267002	broad.mit.edu	37	1	249212440	249212440	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:249212440T>A	uc001ifh.3	+	2	1804	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	PGBD2_uc001ifg.3_Missense_Mutation_p.W302R|PGBD2_uc009xhd.3_Missense_Mutation_p.W550R|PGBD2_uc021pmh.1_Missense_Mutation_p.W302R	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	553										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATTGGGCACTGGATTATCCA	0.547												
LRIT1	26103	broad.mit.edu	37	10	85992166	85992166	+	Silent	SNP	G	G	A	rs142074653	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:85992166G>A	uc001kcz.1	-	3	1411	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	463	Fibronectin type-III.					integral to endoplasmic reticulum membrane		p.Y463Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAAAGACCGCGTAGAGGACAC	0.582												
PTEN	5728	broad.mit.edu	37	10	89692785	89692785	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89692785T>C	uc001kfb.3	+	4	1301	c.269T>C	c.(268-270)tTt>tCt	p.F90S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	90	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.F90fs*9(4)|p.Y27fs*1(2)|p.F90S(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90_P95>L(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATCCTTTTGAAGACCAT	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
PTEN	5728	broad.mit.edu	37	10	89720847	89720847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89720847delC	uc001kfb.3	+	7	2030	c.998delC	c.(997-999)gccfs	p.A333fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	333	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGACAAAGCCAACCGATAC	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SORCS1	114815	broad.mit.edu	37	10	108923743	108923743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:108923743G>C	uc001kyl.3	-	0	724	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SORCS1_uc021pxw.1_Missense_Mutation_p.S181C|SORCS1_uc009xxs.3_Missense_Mutation_p.S181C|SORCS1_uc001kym.3_Missense_Mutation_p.S181C|SORCS1_uc001kyn.2_Missense_Mutation_p.S181C|SORCS1_uc001kyo.3_Missense_Mutation_p.S181C	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	181						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGTGGCCAGACCAGTGGAC	0.562												
SMC3	9126	broad.mit.edu	37	10	112344031	112344031	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:112344031G>T	uc001kze.3	+	12	1308	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	394					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGGATAAGTGGATTAAAAAGG	0.383												
DMBT1	1755	broad.mit.edu	37	10	124399762	124399762	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:124399762C>T	uc001lgk.1	+	51	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2254	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463												
MUC5B	727897	broad.mit.edu	37	11	1267425	1267425	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267425C>T	uc001lta.3	+	30	9374	c.9315C>T	c.(9313-9315)acC>acT	p.T3105T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3105	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.637												
MUC5B	727897	broad.mit.edu	37	11	1267929	1267929	+	Silent	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267929T>C	uc001lta.3	+	30	9878	c.9819T>C	c.(9817-9819)acT>acC	p.T3273T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3273	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGTCCACACCT	0.642												
MUC5B	727897	broad.mit.edu	37	11	1271196	1271196	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1271196C>T	uc001lta.3	+	30	13145	c.13086C>T	c.(13084-13086)acC>acT	p.T4362T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4362	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.652												
PAMR1	25891	broad.mit.edu	37	11	35454286	35454286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:35454286G>A	uc001mwf.3	-	11	1875	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	PAMR1_uc001mwg.3_Missense_Mutation_p.S594F|PAMR1_uc010rew.2_Missense_Mutation_p.S483F|PAMR1_uc010rex.2_Missense_Mutation_p.S554F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	594	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTGATGTGGGACTCCTGGAA	0.607												
LRP4	4038	broad.mit.edu	37	11	46880763	46880763	+	Missense_Mutation	SNP	C	C	T	rs146864522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:46880763C>T	uc001ndn.4	-	37	5732	c.5489G>A	c.(5488-5490)cGa>cAa	p.R1830Q	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.R72Q	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1830					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCGTGAGCTTCGCAGTTGCTT	0.572												
UNC93B1	81622	broad.mit.edu	37	11	67765211	67765211	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:67765211C>T	uc001omw.1	-	6	920	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	280					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TTCCGCTCCGCGGGAGCGTCC	0.647												
CNTN5	53942	broad.mit.edu	37	11	100126601	100126601	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:100126601C>A	uc001pga.3	+	16	2619	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	CNTN5_uc001pfz.3_Missense_Mutation_p.N705K|CNTN5_uc021qpb.1_Missense_Mutation_p.N705K|CNTN5_uc021qpc.1_Missense_Mutation_p.N631K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	705	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCTACAACCTTCAAGCTC	0.507												
CACNA2D4	93589	broad.mit.edu	37	12	1992139	1992139	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:1992139G>A	uc021qsx.1	-	12	1610	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	460	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGGGTGTCCGCCAGCGTTGA	0.632												
PTPRO	5800	broad.mit.edu	37	12	15654855	15654855	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:15654855C>T	uc001rcv.2	+	4	1433	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PTPRO_uc001rcw.2_Silent_p.Y321Y|PTPRO_uc001rcu.2_Silent_p.Y321Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	321						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448												
MLL2	8085	broad.mit.edu	37	12	49416373	49416373	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49416373C>G	uc001rta.4	-	51	16338	c.16338_splice	c.e51+1	p.Q5446_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5446	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGCTCATACCTGCTCTTCGT	0.542			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
MLL2	8085	broad.mit.edu	37	12	49432216	49432216	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49432216G>A	uc001rta.4	-	33	8923	c.8923C>T	c.(8923-8925)Cgc>Tgc	p.R2975C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2975	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGATTGGGGCGGCCAAGCTCA	0.577			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49935518	49935518	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49935518G>A	uc001ruh.1	+	2	676	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	139	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAAGAACCGAGGGGGCCCC	0.592												
CRADD	8738	broad.mit.edu	37	12	94243772	94243772	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:94243772C>A	uc001tda.3	+	2	429	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	109					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GATCCCCTCGCACATCCTCAA	0.562												
CUX2	23316	broad.mit.edu	37	12	111748245	111748245	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:111748245G>A	uc001tsa.2	+	14	1813	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	553						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGCAGCTGGACACGGCAG	0.701												
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:131487822C>T	uc010tbm.2	+	10	1774	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	GPR133_uc001uit.4_Silent_p.T373T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G404W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612												
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313												
SPERT	220082	broad.mit.edu	37	13	46287387	46287387	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:46287387C>T	uc001van.1	+	2	307	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SPERT_uc001vao.2_Missense_Mutation_p.A40V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	76						cytoplasmic membrane-bounded vesicle		p.A76T(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CAGCAGGCCGCCCTGCCCCGG	0.662												
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488												
STRN3	29966	broad.mit.edu	37	14	31425409	31425409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:31425409C>A	uc001wqu.2	-	1	538	c.322G>T	c.(322-324)Gag>Tag	p.E108*	STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	108					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.Q107E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTCAGGTTCTCTTGACCTTTT	0.328												
MAX	4149	broad.mit.edu	37	14	65543330	65543330	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:65543330G>A	uc001xif.1	-	4	517	c.347C>T	c.(346-348)cCc>cTc	p.P116L	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_Non-coding_Transcript	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	116					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCTGAGGAGGGGTAGTTGGT	0.587												
OR4N3P	390539	broad.mit.edu	37	15	22414006	22414006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:22414006G>A	uc001yuf.3	+	0	545	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGTGATGTCCGACAGGTCATC	0.512												
PIF1	80119	broad.mit.edu	37	15	65114493	65114493	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:65114493G>A	uc002ant.2	-	3	855	c.789C>T	c.(787-789)atC>atT	p.I263I	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.3_3'UTR	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	263	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGGTGCCCCCGATGTGGCAGG	0.612												
PPL	5493	broad.mit.edu	37	16	4937215	4937215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:4937215G>A	uc002cyd.1	-	20	2618	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	843					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.A843V(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAACTTGGCGGCAAGTGCTGC	0.483												
GLG1	2734	broad.mit.edu	37	16	74542799	74542799	+	Missense_Mutation	SNP	G	G	C	rs142819854		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:74542799G>C	uc002fcx.3	-	2	546	c.496C>G	c.(496-498)Cta>Gta	p.L166V	GLG1_uc002fcw.4_Missense_Mutation_p.L155V|GLG1_uc002fcy.4_Missense_Mutation_p.L166V|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	166						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGTAGTTAGGTTCAGCTTA	0.328												
CBFA2T3	863	broad.mit.edu	37	16	88945844	88945844	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:88945844C>T	uc002fmm.2	-	10	1785	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	CBFA2T3_uc002fml.2_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.2_5'UTR	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	499	Mediates interaction with PRKAR2A.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CATGGCCTGCCGCTTCACCTC	0.647			T	RUNX1	AML							
P2RX5	5026	broad.mit.edu	37	17	3582918	3582918	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:3582918C>T	uc002fwi.3	-	10	1624	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G349R|P2RX5_uc002fwk.3_Missense_Mutation_p.G408R|P2RX5_uc002fwj.3_Missense_Mutation_p.G384R|P2RX5_uc002fwl.3_Missense_Mutation_p.G385R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	409					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CACACAGATCCGTTCCCCTTC	0.672												
RABEP1	9135	broad.mit.edu	37	17	5238607	5238607	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:5238607G>A	uc002gbm.4	+	3	720	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.4_Missense_Mutation_p.E166K|RABEP1_uc002gbj.3_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	166					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAAGGTCAAGAGGAGGAAAA	0.383												
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
PEX12	5193	broad.mit.edu	37	17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:33904306G>C	uc002hjp.3	-	1	1047	c.431C>G	c.(430-432)tCt>tGt	p.S144C		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	144					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.S144C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453												
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652												
KRT38	8687	broad.mit.edu	37	17	39593757	39593757	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39593757G>A	uc002hwq.1	-	6	1701	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	426	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCAGTCACGCAGGAGGGAG	0.617												
ARL17A	51326	broad.mit.edu	37	17	44594545	44594545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:44594545C>T	uc002iko.4	-	3	453	c.314G>A	c.(313-315)gGc>gAc	p.G105D	LRRC37A2_uc002ikn.1_Intron	NM_016632	NP_057716	Q8IVW1	ARL17_HUMAN	Homo sapiens ADP-ribosylation factor-like 17A (ARL17A), transcript variant 2, mRNA.	0					protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding			lung(1)	1						ATCATTTGTGCCGGTGACCCC	0.403												
CCBE1	147372	broad.mit.edu	37	18	57106776	57106776	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:57106776T>G	uc002lib.3	-	9	1021	c.951_splice	c.e9+1	p.K317_splice	CCBE1_uc010dpq.3_Splice_Site_p.K46_splice|CCBE1_uc002lia.3_Splice_Site_p.K170_splice	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	317	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAGGCTTACCTTAGAACCATC	0.423												
ADNP2	22850	broad.mit.edu	37	18	77896514	77896514	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896514T>C	uc002lnw.3	+	3	3673	c.3218T>C	c.(3217-3219)aTa>aCa	p.I1073T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1073					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAAAGGAAATAGAACTGTTG	0.313												
ADNP2	22850	broad.mit.edu	37	18	77896534	77896534	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896534T>C	uc002lnw.3	+	3	3693	c.3238T>C	c.(3238-3240)Ttt>Ctt	p.F1080L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1080					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTCCTCACTCTTTTGGGTGTG	0.328												
GCDH	2639	broad.mit.edu	37	19	13008135	13008135	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:13008135A>T	uc002mvq.3	+	9	1052	c.975A>T	c.(973-975)ccA>ccT	p.P325P	GCDH_uc010xms.2_Silent_p.P292P|GCDH_uc002mvp.3_Silent_p.P325P|GCDH_uc010xmt.2_Silent_p.P159P|GCDH_uc010xmu.2_Silent_p.P281P	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TTGGTGTCCCACTGGCCAGGA	0.627												
OR10H1	26539	broad.mit.edu	37	19	15917903	15917903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:15917903delA	uc002nbq.2	-	0	1034	c.945delT	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438												
PDE4C	5143	broad.mit.edu	37	19	18327614	18327614	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:18327614G>A	uc010xqc.2	-	11	1902	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	PDE4C_uc002nik.4_Silent_p.C474C|PDE4C_uc002nil.4_Silent_p.C474C|PDE4C_uc002nig.4_Silent_p.C189C|PDE4C_uc002nih.4_Silent_p.C244C|PDE4C_uc010ebk.3_Silent_p.C368C|PDE4C_uc002nii.4_Silent_p.C442C|PDE4C_uc002nif.4_Silent_p.C243C|PDE4C_uc010ebl.3_Silent_p.C188C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	474					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGAAGATATCGCAGTTCTCTG	0.602												
CILP2	148113	broad.mit.edu	37	19	19653191	19653191	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:19653191C>T	uc002nmw.4	+	4	703	c.618C>T	c.(616-618)agC>agT	p.S206S	CILP2_uc002nmv.4_Silent_p.S200S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	200						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGGGTGCAGCCTTGACACCT	0.582												
ZNF208	7757	broad.mit.edu	37	19	22154854	22154854	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:22154854A>T	uc021urr.1	-	3	3131	c.2982T>A	c.(2980-2982)atT>atA	p.I994I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.348												
MLL2	9757	broad.mit.edu	37	19	36222840	36222840	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:36222840C>T	uc021usv.1	+	26	5469	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D	MLL2_uc021usu.1_Silent_p.D637D	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	440					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCCACTGGACACAGATGTTC	0.627			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
MEGF8	1954	broad.mit.edu	37	19	42873137	42873137	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:42873137C>T	uc002otl.4	+	35	7058	c.6423C>T	c.(6421-6423)acC>acT	p.T2141T	MEGF8_uc002otm.4_Silent_p.T1749T|MEGF8_uc002otn.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2208	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAAGACCGGCTATACCA	0.637												
ZNF813	126017	broad.mit.edu	37	19	53994332	53994332	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:53994332G>A	uc021uzf.1	+	0	122	c.26G>A	c.(25-27)aGa>aAa	p.R9K	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.Q282Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCAGTCAGACGTATTCCC	0.418												
IL36B	27177	broad.mit.edu	37	2	113780342	113780342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:113780342C>T	uc002tiq.1	-	5	508	c.404G>A	c.(403-405)tGg>tAg	p.W135*		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	135					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGAACTCTTCCACTTCTTTCT	0.438												
GALNT5	11227	broad.mit.edu	37	2	158165160	158165160	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:158165160G>A	uc002tzg.3	+	8	2857	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	868	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGGAGCCGTAAGGCTGCA	0.408												
TTN	7273	broad.mit.edu	37	2	179553840	179553840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:179553840C>T	uc021vsy.1	-	121	28528	c.28303G>A	c.(28303-28305)Gtc>Atc	p.V9435I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10362	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTGGGACGGGTTTCTTA	0.428												
CCDC108	255101	broad.mit.edu	37	2	219892442	219892442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:219892442C>T	uc002vjl.1	-	12	2225	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	714						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGCAGGCGCATGGCCAT	0.597												
COL6A3	1293	broad.mit.edu	37	2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:238289831C>T	uc002vwl.2	-	4	1909	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.3_Missense_Mutation_p.G336S|COL6A3_uc002vwr.3_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	542	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A541A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGTAGCCGGCTGAACTC	0.557												
PER2	8864	broad.mit.edu	37	2	239161798	239161798	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:239161798G>A	uc002vyc.3	-	18	3103	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	PER2_uc010znv.1_Missense_Mutation_p.P956S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	956	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGTCTGGGGATCGAGGTC	0.667												
AQP12A	375318	broad.mit.edu	37	2	241631371	241631371	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:241631371C>T	uc002vzu.3	+	0	110	c.41C>T	c.(40-42)aCc>aTc	p.T14I	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	14						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTTGCCACCTTCGCCCTC	0.677												
SRXN1	140809	broad.mit.edu	37	20	629466	629466	+	Silent	SNP	G	G	A	rs140166119		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:629466G>A	uc002wea.3	-	1	367	c.306C>T	c.(304-306)taC>taT	p.Y102Y	SRXN1_uc002web.3_Non-coding_Transcript	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	102					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGTAGGCCGCGTAGCGGTGGC	0.617												
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:5282783C>T	uc010zqw.2	-	1	1066	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_uc010zqx.2_Missense_Mutation_p.R353H|PROKR2_uc010zqy.2_Missense_Mutation_p.R353H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)		
SEL1L2	80343	broad.mit.edu	37	20	13899669	13899669	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:13899669T>A	uc010gcf.3	-	3	466	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Missense_Mutation_p.E128D|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	128						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGACTTACTCTTCTTTTTGTT	0.343												
SPAG4	6676	broad.mit.edu	37	20	34206899	34206899	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:34206899G>A	uc002xdb.1	+	7	889	c.772G>A	c.(772-774)Gac>Aac	p.D258N	SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	258					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCGGAAGCCCGACTATGCTTT	0.592												
PLCG1	5335	broad.mit.edu	37	20	39795447	39795447	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795447T>G	uc002xjp.1	+	18	2370	c.2249T>G	c.(2248-2250)aTg>aGg	p.M750R	PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.3_Missense_Mutation_p.M100R	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	750	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACCGCAAGATGAAGCTGCGC	0.572												
PLCG1	5335	broad.mit.edu	37	20	39795453	39795453	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795453T>A	uc002xjp.1	+	18	2376	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.3_Missense_Mutation_p.L102Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGATGAAGCTGCGCTATCCC	0.567												
ERG	2078	broad.mit.edu	37	21	39795357	39795357	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:39795357G>A	uc010gnw.3	-	4	679	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERG_uc021wjd.1_Silent_p.N128N|ERG_uc002yxa.3_Silent_p.N121N|ERG_uc011aek.2_Silent_p.N29N|ERG_uc010gnv.3_Silent_p.N29N|ERG_uc010gnx.3_Silent_p.N128N|ERG_uc011ael.2_Silent_p.N128N|ERG_uc002yxb.3_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.4_Silent_p.N128N	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	128	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCTGCGCTCGTTCGTGGTCA	0.602			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""							
UBASH3A	53347	broad.mit.edu	37	21	43867265	43867265	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:43867265C>T	uc002zbe.3	+	14	2031	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	UBASH3A_uc002zbf.3_Silent_p.N611N|UBASH3A_uc010gpe.3_3'UTR|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	649	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGGCGAACGCAGCATTTA	0.527												
GAL3ST1	9514	broad.mit.edu	37	22	30951882	30951882	+	Silent	SNP	G	G	A	rs112070427	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:30951882G>A	uc003aig.1	-	3	470	c.330C>T	c.(328-330)aaC>aaT	p.N110N	GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	110					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATTGCGGCCGTTAGGGAAGG	0.597												
LINC00207	388910	broad.mit.edu	37	22	44966379	44966379	+	Splice_Site	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:44966379G>A	uc011aqg.2	+	3		c.170_splice	c.e3-1		LINC00207_uc021wre.1_Splice_Site|LINC00207_uc011aqh.2_Splice_Site					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						CAACAAAACAGGTTCTGTTTA	0.488												
PLCD1	5333	broad.mit.edu	37	3	38050824	38050824	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38050824C>A	uc003chm.3	-	9	1962	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H	PLCD1_uc003chn.3_Missense_Mutation_p.Q515H	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	515	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGTAGAAGGCCTGTCCAGGGG	0.577												
SCN10A	6336	broad.mit.edu	37	3	38783979	38783979	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38783979T>A	uc003ciq.3	-	12	1909	c.1909A>T	c.(1909-1911)Agc>Tgc	p.S637C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	637					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGACAAGCTGGTCAAGCAG	0.512												
ITIH3	3699	broad.mit.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:52842629G>A	uc003dfv.2	+	21	2641	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_uc011bek.1_Missense_Mutation_p.V677I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	869					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537												
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	A	C	rs147593769	by1000genomes	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:125651539A>C	uc021xdh.1	-	3	394	c.174T>G	c.(172-174)ctT>ctG	p.L58L	ALG1L_uc003eig.2_Silent_p.L38L	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423												
NAALADL2	254827	broad.mit.edu	37	3	174951943	174951943	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:174951943C>G	uc003fit.3	+	2	855	c.768C>G	c.(766-768)agC>agG	p.S256R	NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	256					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATAGCAGCCAAGACCTGC	0.463												
YEATS2	55689	broad.mit.edu	37	3	183470006	183470006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:183470006C>T	uc003fly.2	+	9	1310	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	372					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGCAGTCACATGAGCCA	0.478												
VPS8	23355	broad.mit.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:184714255C>T	uc021xik.1	+	42	3890	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413												
DGKQ	1609	broad.mit.edu	37	4	956607	956607	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:956607C>T	uc003gbw.3	-	16	2062	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	DGKQ_uc010ibn.3_Missense_Mutation_p.R650Q	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	663	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGCCAGTCGGTACCGTGT	0.687												
KLHL5	51088	broad.mit.edu	37	4	39116882	39116882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:39116882G>A	uc003gtr.2	+	9	2426	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	KLHL5_uc003gtp.3_Missense_Mutation_p.G669R|KLHL5_uc003gtq.3_Missense_Mutation_p.G528R|KLHL5_uc003gts.3_Missense_Mutation_p.G715R|KLHL5_uc003gtt.3_Missense_Mutation_p.G654R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	715						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGTTGGGGGGTATGATGG	0.458												
IGJ	3512	broad.mit.edu	37	4	71527860	71527860	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:71527860C>T	uc010ihz.3	-	2	326	c.185G>A	c.(184-186)cGt>cAt	p.R62H	IGJ_uc003hfn.4_Missense_Mutation_p.R46H	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	46					immune response	extracellular region	antigen binding	p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTCGGAAGAACGGATGATCCT	0.383												
CXXC4	80319	broad.mit.edu	37	4	105412449	105412449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:105412449G>A	uc003hxg.3	-	0	19	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	2					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTCGGTGGTGCATGCTGGTC	0.687												
CDH18	1016	broad.mit.edu	37	5	19747216	19747216	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:19747216G>T	uc003jgd.3	-	3	892	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	CDH18_uc011cnm.2_Missense_Mutation_p.Q120K|CDH18_uc003jgc.3_Missense_Mutation_p.Q120K|CDH18_uc021xwu.1_Missense_Mutation_p.Q120K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGGTCTTCTGCTCTCTGTCT	0.433												
PRDM9	56979	broad.mit.edu	37	5	23523414	23523414	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:23523414A>G	uc003jgo.3	+	8	1079	c.897A>G	c.(895-897)agA>agG	p.R299R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	299	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAGGGGAGAAACTGCTATG	0.428										HNSCC(3;0.000094)		
ADAMTS12	81792	broad.mit.edu	37	5	33615934	33615934	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:33615934T>C	uc003jia.1	-	15	2551	c.2388_splice	c.e15+1	p.Q796_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.Q711_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	796	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCATTACCTGGATCCACAC	0.473										HNSCC(64;0.19)		
MAP3K1	4214	broad.mit.edu	37	5	56168509	56168509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:56168509C>T	uc003jqw.4	+	7	1966	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	489					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTAATATGTCCCCTTTGTAG	0.279												
NAIP	4671	broad.mit.edu	37	5	70308329	70308329	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:70308329G>A	uc003kar.1	-	3	1132	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	138					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Y138Y(2)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483												
FAM81B	153643	broad.mit.edu	37	5	94749771	94749771	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:94749771C>T	uc003kla.1	+	3	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	138										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAGGAGGACATCTCTGCTT	0.522												
PCDHAC2	56141	broad.mit.edu	37	5	140215715	140215715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:140215715C>T	uc003lhq.2	+	0	1747	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R583W	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	596					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTGCCGCGGTCTGTGGG	0.657												
NMUR2	56923	broad.mit.edu	37	5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:151784353G>A	uc003luv.2	-	0	488	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587												
TIMD4	91937	broad.mit.edu	37	5	156349123	156349123	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:156349123C>T	uc003lwh.2	-	6	1056	c.999G>A	c.(997-999)gcG>gcA	p.A333A	TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	333						integral to membrane		p.A333A(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAGAAACGCCACAAACA	0.517												
MYLIP	29116	broad.mit.edu	37	6	16143302	16143302	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:16143302A>C	uc003nbq.3	+	3	753	c.516A>C	c.(514-516)gaA>gaC	p.E172D	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	172	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTTCAGCTGAATACCAAGTTT	0.463												
VN1R10P	83954	broad.mit.edu	37	6	27293586	27293586	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:27293586A>G	uc010jqt.3	+	0	1047	c.525A>G	c.(523-525)agA>agG	p.R175R		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		TGCATCAAAGAAATCCTGATA	0.333												
SLC22A7	10864	broad.mit.edu	37	6	43267438	43267438	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:43267438G>A	uc021yzt.1	+	3	676	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.3_Missense_Mutation_p.V191I|SLC22A7_uc003out.3_Missense_Mutation_p.V191I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	193						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCAGCCTCCGTCAGCTATGT	0.587												
AARS2	57505	broad.mit.edu	37	6	44270876	44270876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:44270876delC	uc010jza.1	-	15	2185	c.2182delG	c.(2182-2184)gtgfs	p.V728fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	728					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCCACGGGCACCCCCACTGAT	0.602												
MEP1A	4224	broad.mit.edu	37	6	46806843	46806843	+	Silent	SNP	C	C	T	rs139598232	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:46806843C>T	uc011dwh.1	+	12	2303	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	MEP1A_uc010jzh.1_Silent_p.I737I|MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwi.1_Silent_p.I637I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	737					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTCCATCATCGCCATCCTTT	0.602												
C6orf221	154288	broad.mit.edu	37	6	74073290	74073290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:74073290G>A	uc003pgt.4	+	2	414	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	121										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CTCAGGAAAGGCCCTCGCCCA	0.617												
MACC1	346389	broad.mit.edu	37	7	20198221	20198221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:20198221G>A	uc003sus.4	-	4	2072	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	MACC1_uc010kug.3_Missense_Mutation_p.A588V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	588	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGACCAATAGCTTTTACCTT	0.418												
Unknown	0	broad.mit.edu	37	7	39873998	39873998	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:39873998A>G								LINC00265 (39776 upstream) : CDK13 (115961 downstream)																							GCCCTCCAGGAACACCCATTA	0.567												
EGFR	1956	broad.mit.edu	37	7	55214352	55214352	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55214352G>A	uc003tqk.3	+	3	724	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EGFR_uc003tqh.3_Missense_Mutation_p.E160K|EGFR_uc003tqi.3_Missense_Mutation_p.E160K|EGFR_uc003tqj.3_Missense_Mutation_p.E160K|EGFR_uc022adm.1_Missense_Mutation_p.E160K|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.E107K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAACGTGGAGAGCATCCA	0.552		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
COL1A2	1278	broad.mit.edu	37	7	94056341	94056341	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:94056341G>C	uc003ung.1	+	46	3598	c.3127G>C	c.(3127-3129)Gct>Cct	p.A1043P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1043					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|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)	TGATCAAGGTGCTCCTGGCTC	0.458										HNSCC(75;0.22)		
NPTX2	4885	broad.mit.edu	37	7	98254262	98254262	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98254262G>A	uc003upl.2	+	2	849	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	224					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACCAGATGCGTTCAAGGTGT	0.602												
TRRAP	8295	broad.mit.edu	37	7	98528341	98528341	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98528341G>T	uc003upp.3	+	24	3688	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	TRRAP_uc011kis.2_Missense_Mutation_p.G1160V|TRRAP_uc003upr.3_Missense_Mutation_p.G852V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1160					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCTGGGGGGTGTGGTGTCT	0.517												
IFRD1	3475	broad.mit.edu	37	7	112112859	112112859	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:112112859C>T	uc003vgh.3	+	11	1679	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	IFRD1_uc011kmn.2_Silent_p.P353P|IFRD1_uc003vgj.3_Silent_p.P403P|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.P353P|IFRD1_uc003vgk.3_Silent_p.P120P	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	403				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACTTGGACCCCCAGTGATGC	0.353												
GIMAP6	474344	broad.mit.edu	37	7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150324938C>T	uc022apv.1	-	2	1438	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	250							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493												
ABP1	26	broad.mit.edu	37	7	150558161	150558161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150558161C>T	uc003why.1	+	5	6338	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	707					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGGACCCCTCCCTGGCATCC	0.622												
ZMAT4	79698	broad.mit.edu	37	8	40554861	40554861	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:40554861G>T	uc003xnr.3	-	3	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ZMAT4_uc003xns.3_Missense_Mutation_p.F84L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	84						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGCTGAAGTGAATGACATGT	0.498												
MCM4	4173	broad.mit.edu	37	8	48874694	48874694	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:48874694G>C	uc003xqk.2	+	3	1143	c.317G>C	c.(316-318)gGt>gCt	p.G106A	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.G106A|MCM4_uc011ldi.2_Missense_Mutation_p.G93A|MCM4_uc010lxw.2_Intron	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	106					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAAGAAGTGGTGTTAGGGGC	0.527												
RPL7	6129	broad.mit.edu	37	8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-	rs151181576		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:74205020_74205022delCTT	uc003xzg.3	-	1	47_49	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RDH10_uc003xzi.3_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	9	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414												
VPS13B	157680	broad.mit.edu	37	8	100568723	100568723	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:100568723C>T	uc003yiv.3	+	30	4977	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	VPS13B_uc003yiw.3_Silent_p.I1597I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1622					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCAGAAATCGAAGACAGAC	0.398												
CSMD3	114788	broad.mit.edu	37	8	113702122	113702122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:113702122C>T	uc003ynu.3	-	13	2289	c.2130G>A	c.(2128-2130)tgG>tgA	p.W710*	CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W606*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	710	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTGCAGACCATTGGTTAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
DENND4C	55667	broad.mit.edu	37	9	19360386	19360386	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:19360386A>G	uc003znq.3	+	23	4530	c.4450A>G	c.(4450-4452)Atc>Gtc	p.I1484V	DENND4C_uc011lnc.2_Missense_Mutation_p.I814V|DENND4C_uc011lnd.2_Missense_Mutation_p.I772V|DENND4C_uc003znr.3_Missense_Mutation_p.I772V|DENND4C_uc003zns.3_Missense_Mutation_p.I666V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1484						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCAACATCCAATCATTTTCTG	0.388												
C9orf84	158401	broad.mit.edu	37	9	114462255	114462255	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:114462255G>A	uc004bfr.3	-	21	3105	c.2970C>T	c.(2968-2970)aaC>aaT	p.N990N	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.N951N|C9orf84_uc010mug.3_Silent_p.N901N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	990										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTTCAGAGTTTAGCCCAA	0.313												
P2RY8	286530	broad.mit.edu	37	X	1584686	1584686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:1584686C>T	uc022brv.1	-	0	766	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.V256M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	256						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCAGGAGCACGAAGTTGTTG	0.647			T	CRLF2	"""B-ALL, Downs associated ALL"""							
FOXR2	139628	broad.mit.edu	37	X	55650462	55650462	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:55650462C>T	uc004duo.3	+	0	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	106					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542												
MUM1L1	139221	broad.mit.edu	37	X	105450617	105450617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:105450617delT	uc022cca.1	+	0	1192	c.1192delT	c.(1192-1194)tttfs	p.F398fs	MUM1L1_uc004emg.2_Frame_Shift_Del_p.F398fs|MUM1L1_uc004emf.2_Frame_Shift_Del_p.F398fs	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	398	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTCTGGTTTAAATATCA	0.358												
AGTR2	186	broad.mit.edu	37	X	115304521	115304521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:115304521C>T	uc022cdd.1	+	0	988	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	AGTR2_uc004eqh.4_Missense_Mutation_p.R330C	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	330					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.R330L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ACAGAAGCTCCGCAGTGTGTT	0.463												
MAGEC3	139081	broad.mit.edu	37	X	140966989	140966989	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:140966989G>C	uc011mwp.2	+	2	287	c.287G>C	c.(286-288)gGt>gCt	p.G96A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	96										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTCCCCAGGTTTACAACTT	0.582												
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627												
PCDH11Y	83259	broad.mit.edu	37	Y	5605460	5605460	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrY:5605460G>T	uc004fqo.3	+	4	4234	c.3500G>T	c.(3499-3501)aGc>aTc	p.S1167I	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1167					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATGCCACAGCCCACCACTG	0.552												
