Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TRIOBP	11078	broad.mit.edu	37	22	38130463	38130463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38130463C>T	ENST00000406386.3	+	9	4375	c.4120C>T	c.(4120-4122)Cct>Tct	p.P1374S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1374					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCAGAGCCCCCTCATCCTTG	0.652000													13	41					0	0	0.001523	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734669	37734669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:37734669C>T	ENST00000330843.4	-	2	784	c.772G>A	c.(772-774)Gat>Aat	p.D258N	RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.D110N|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.D110N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.D258N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	258					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCATCTTCATCCCACTGGGAC	0.512000													25	55					0	0	0.004656	0	0
HCFC1	3054	broad.mit.edu	37	X	153222161	153222161	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:153222161G>A	ENST00000310441.7	-	15	3516	c.2550C>T	c.(2548-2550)ccC>ccT	p.P850P	HCFC1_ENST00000354233.3_Silent_p.P781P|HCFC1_ENST00000369984.4_Silent_p.P850P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	850	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCCCCATGGGCACAGTGC	0.632000													41	19					0	0	0.006230	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:23966723G>A	ENST00000335694.4	-	3	498	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_ENST00000286890.4_Silent_p.F98F|GGTLC1_ENST00000278765.4_Silent_p.F98F	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000													29	72					0	0	0.002096	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	G	T	rs143879959		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147914416G>T	ENST00000361727.3	+	19	3563	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R75L	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1016					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1016Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTACGATATAACTTT	0.488000										HNSCC(39;0.1)			45	84					1.00953e-15	2.09815e-15	0.003214	1	0
HSPA1L	3305	broad.mit.edu	37	6	31778222	31778222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31778222C>T	ENST00000375654.4	-	2	1717	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G510S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	510					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCAGGCGGCCCTTGTCATTG	0.493000													227	616					0	0	0.003610	0	0
ILDR2	387597	broad.mit.edu	37	1	166905847	166905847	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:166905847G>A	ENST00000271417.3	-	5	739	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ILDR2_ENST00000529071.1_Silent_p.S209S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Silent_p.S228S|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000528703.1_Silent_p.S228S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	228	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCAGCAGCAGGAATCTGGGC	0.597000													5	53					0	0	0.001168	0	0
CCDC141	285025	broad.mit.edu	37	2	179742776	179742776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179742776G>A	ENST00000420890.2	-	12	1931	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	CCDC141_ENST00000409284.1_Missense_Mutation_p.S605L|CCDC141_ENST00000295723.5_Missense_Mutation_p.S30L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	30							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCTCAGCCGAGTCAGAACA	0.368000													38	62					0	0	0.004289	0	0
CD163L1	283316	broad.mit.edu	37	12	7586231	7586231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7586231C>T	ENST00000313599.3	-	3	241	c.184G>A	c.(184-186)Gag>Aag	p.E62K	CD163L1_ENST00000416109.2_Missense_Mutation_p.E62K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E62K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	62	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AATTTCACCTCCACTGTCCCA	0.483000													36	79					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179483462	179483462	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179483462A>G	ENST00000589042.1	-	251	47039	c.46815T>C	c.(46813-46815)aaT>aaC	p.N15605N	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.N13964N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.N6732N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.N6540N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.N6665N|TTN_ENST00000342992.6_Silent_p.N13037N|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13964							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)			ATAAAGGTTCATTTTCTTTAA	0.413000													16	31					0	0	0.004007	0	0
FAM72A	729533	broad.mit.edu	37	1	206145496	206145496	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206145496C>T	ENST00000367128.3	+	3	1121	c.273C>T	c.(271-273)tcC>tcT	p.S91S	FAM72A_ENST00000470041.1_3'UTR|FAM72A_ENST00000367129.2_Silent_p.S91S|FAM72A_ENST00000341209.5_Silent_p.S51S			Q5TYM5	FA72A_HUMAN	family with sequence similarity 72, member A	91										endometrium(2)	2						CATGTAGTTCCTGTCTTCTTT	0.373000													104	317					0	0	0.003610	0	0
TTC24	164118	broad.mit.edu	37	1	156555606	156555606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156555606G>A	ENST00000368236.3	+	9	1594	c.1558G>A	c.(1558-1560)Gcc>Acc	p.A520T	TTC24_ENST00000368237.3_Missense_Mutation_p.A520T|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	520							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCGGCAAAGCCTCCATCTA	0.532000													24	70					0	0	0.002299	0	0
HBD	3045	broad.mit.edu	37	11	5253961	5253961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5253961C>T	ENST00000292901.3	-	3	432	c.383G>A	c.(382-384)gGa>gAa	p.G128E				P02042	HBD_HUMAN	hemoglobin, delta	0					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCTTTTCCCATGTACTC	0.368000													6	19					0	0	0.003080	0	0
HMG20A	10363	broad.mit.edu	37	15	77769935	77769935	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:77769935C>T	ENST00000381714.3	+	8	1082	c.654C>T	c.(652-654)atC>atT	p.I218I	HMG20A_ENST00000336216.4_Silent_p.I218I	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	218					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTTGACATCCCTATATTTA	0.338000													15	26					0	0	0.007413	0	0
IL21R	50615	broad.mit.edu	37	16	27460569	27460569	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:27460569C>T	ENST00000337929.3	+	9	2055	c.1582C>T	c.(1582-1584)Ccg>Tcg	p.P528S	IL21R_ENST00000395755.1_Missense_Mutation_p.P528S|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.P528S|IL21R_ENST00000395754.4_Missense_Mutation_p.P528S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	528					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATTCCTCCGCCACTTTC	0.652000			T	BCL6	NHL								7	44					0	0	0.006214	0	0
ENKD1	84080	broad.mit.edu	37	16	67700148	67700148	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:67700148T>G	ENST00000243878.4	-	2	427	c.106A>C	c.(106-108)Aac>Cac	p.N36H	ENKD1_ENST00000602644.1_Missense_Mutation_p.N36H	NM_032140.1	NP_115516.1			enkurin domain containing 1																		TTCAGCGCGTTTCCCTCGAGG	0.721000													12	38					0	0	0.001855	0	0
OR4D10	390197	broad.mit.edu	37	11	59245604	59245604	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:59245604G>A	ENST00000530162.1	+	1	759	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAGGAGGAAAGCCATCT	0.547000													52	74					0	0	0.003610	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052904	13052904	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:13052904G>A	ENST00000399002.2	+	3	578	c.303_splice	c.e3-1	p.D102_splice	SPTLC3_ENST00000378194.4_Splice_Site_p.D102_splice	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	102					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTTCTAACAGGATTTTGTGCC	0.423000													48	130					0	0	0.003610	0	0
CCDC73	493860	broad.mit.edu	37	11	32624400	32624400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:32624400C>T	ENST00000335185.5	-	18	3240	c.3197G>A	c.(3196-3198)aGa>aAa	p.R1066K	EIF3M_ENST00000531120.1_3'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	1066										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGCTTTTCTTTTCTTTGG	0.308000													6	25					0	0	0.001984	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625867	20625867	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:20625867G>A	ENST00000525748.1	+	3	849	c.576G>A	c.(574-576)ggG>ggA	p.G192G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	192					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGCCCGAGGGAACTGGTCCA	0.597000													53	86					0	0	0.003610	0	0
HOXA3	3200	broad.mit.edu	37	7	27150097	27150097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:27150097G>A	ENST00000396352.4	-	2	362	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	HOXA3_ENST00000317201.2_Missense_Mutation_p.P55S|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	55					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCTGGAGGGAGACTGGAGG	0.692000													6	20					0	0	0.001984	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049416	36049416	+	Missense_Mutation	SNP	C	C	T	rs147471382	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:36049416C>T	ENST00000282507.3	-	4	519	c.418G>A	c.(418-420)Gac>Aac	p.D140N	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.D106N	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	140						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCACCATGTCGAAGTTCTCA	0.368000													24	39					0	0	0.003330	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960417	33960417	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:33960417A>G	ENST00000361328.3	+	8	2626	c.2473A>G	c.(2473-2475)Agt>Ggt	p.S825G		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	825					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACCAGTGTAGTGAGCCTGG	0.448000													68	146					0	0	0.003610	0	0
HDAC9	9734	broad.mit.edu	37	7	18631203	18631203	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:18631203G>A	ENST00000406451.3	+	5	621	c.471G>A	c.(469-471)acG>acA	p.T157T	HDAC9_ENST00000401921.1_Silent_p.T160T|HDAC9_ENST00000417496.2_Silent_p.T199T|HDAC9_ENST00000428307.2_Silent_p.T157T|HDAC9_ENST00000405010.3_Silent_p.T157T|HDAC9_ENST00000441542.2_Silent_p.T160T|HDAC9_ENST00000432645.2_Silent_p.T157T|HDAC9_ENST00000456174.2_Silent_p.T129T|HDAC9_ENST00000524023.1_Silent_p.T126T|HDAC9_ENST00000406072.1_Silent_p.T188T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	157					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATCAGCAACGAAAGACACTC	0.453000													13	35					0	0	0.001855	0	0
LRFN5	145581	broad.mit.edu	37	14	42360604	42360604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42360604G>A	ENST00000298119.4	+	4	2726	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	513						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TACGGAACAGGATTATGTGCG	0.428000										HNSCC(30;0.082)			52	118					0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32776087	32776087	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:32776087C>T	ENST00000380250.3	+	30	4252	c.3756C>T	c.(3754-3756)ccC>ccT	p.P1252P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAACTATCCCTTCGACATAG	0.393000													26	67					0	0	0.005443	0	0
CNOT4	4850	broad.mit.edu	37	7	135047761	135047761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:135047761G>A	ENST00000541284.1	-	12	2348	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000451834.1_Missense_Mutation_p.P670L|CNOT4_ENST00000361528.4_Missense_Mutation_p.P599L|CNOT4_ENST00000423368.2_Missense_Mutation_p.P602L	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	344					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGGAGGGTAGGGATTCCAACT	0.607000													51	102					0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26712562	26712562	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:26712562T>C	ENST00000272371.2	-	10	1070	c.944A>G	c.(943-945)aAg>aGg	p.K315R	OTOF_ENST00000403946.3_Missense_Mutation_p.K315R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	315	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGATGATCTTGTCAAACAT	0.582000													16	34					0	0	0.008871	0	0
FNBP1L	54874	broad.mit.edu	37	1	93988993	93988993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:93988993G>A	ENST00000260506.8	+	4	438	c.287G>A	c.(286-288)aGa>aAa	p.R96K	FNBP1L_ENST00000271234.7_Missense_Mutation_p.R96K|FNBP1L_ENST00000370253.2_Missense_Mutation_p.R96K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.R96K|FNBP1L_ENST00000370256.4_Missense_Mutation_p.R96K	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	96	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATGGCGCACAGAGTGTATGGT	0.348000													9	24					0	0	0.008291	0	0
NDST4	64579	broad.mit.edu	37	4	115997241	115997241	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:115997241T>C	ENST00000264363.2	-	2	1630	c.952A>G	c.(952-954)Aca>Gca	p.T318A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	318	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCATCCTTGTTCCCTCTTTC	0.363000													37	43					0	0	0.006230	0	0
HECW2	57520	broad.mit.edu	37	2	197189721	197189721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:197189721G>A	ENST00000260983.2	-	6	906	c.724C>T	c.(724-726)Cca>Tca	p.P242S	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	242	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCCAAATTGGATTGGTGGTG	0.507000													67	121					0	0	0.003610	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218070	204218070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204218070G>A	ENST00000272203.3	-	12	2019	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T588I	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	568										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCCTGGTGGGTCCCCATCAA	0.557000													10	37					0	0	0.001368	0	0
NR1D2	9975	broad.mit.edu	37	3	23996176	23996176	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:23996176C>T	ENST00000312521.4	+	2	484	c.165C>T	c.(163-165)ccC>ccT	p.P55P	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	55					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ATGGTAATCCCAAGAATGGTG	0.413000													25	111					0	0	0.006320	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576558	33576558	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:33576558A>T	ENST00000504830.1	-	19	3908	c.3573T>A	c.(3571-3573)agT>agA	p.S1191R	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1106R	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1191	Spacer 2.				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						GCATTTCTGTACTTTCCACTG	0.507000										HNSCC(64;0.19)			44	125					0	0	0.003610	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315848	73315848	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:73315848A>T	ENST00000258098.6	-	3	1138	c.898T>A	c.(898-900)Ttc>Atc	p.F300I	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	300					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTATGGGTGAACAGCTTGGGG	0.617000													9	28					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	2965279	2965279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2965279G>A	ENST00000520002.1	-	46	7354	c.6799C>T	c.(6799-6801)Cag>Tag	p.Q2267*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q2267*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q2267*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q2266*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q2266*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Q2267*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2267	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCTGCCTGTGGAACCGCT	0.353000													44	112					0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57537266	57537266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57537266C>T	ENST00000371236.2	-	6	750	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	DAB1_ENST00000414851.2_Missense_Mutation_p.E163K|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Missense_Mutation_p.E163K|DAB1_ENST00000371230.1_Missense_Mutation_p.E163K|DAB1_ENST00000371231.1_Missense_Mutation_p.E163K|DAB1_ENST00000371234.4_Missense_Mutation_p.E163K|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	163	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCTTCAATTCATAAATGAGT	0.413000													24	44					0	0	0.002299	0	0
CD48	962	broad.mit.edu	37	1	160654867	160654867	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:160654867C>T	ENST00000368045.3	-	2	234	c.195G>A	c.(193-195)aaG>aaA	p.K65K	CD48_ENST00000368046.3_Silent_p.K65K			P09326	CD48_HUMAN	CD48 molecule	65	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATTCTACAATCTTCTGGTCGA	0.443000													22	80					0	0	0.002299	0	0
FUT4	2526	broad.mit.edu	37	11	94278472	94278472	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:94278472G>A	ENST00000358752.2	+	1	1456	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	391					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGGCGGGCCGGGGCAGCCGG	0.637000													5	18					0	0	0.000602	0	0
CACNA1E	777	broad.mit.edu	37	1	181725216	181725216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181725216G>A	ENST00000526775.1	+	28	4222	c.4057G>A	c.(4057-4059)Gaa>Aaa	p.E1353K	CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1353K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1323K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.E979K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1304K|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1372K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.E1372K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1372					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCACAGGGGAAGGATGGCC	0.527000													11	32					0	0	0.001368	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102312074	102312074	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:102312074G>A	ENST00000561463.1	+	0	13442																											AAGATCTTTGGAGAGAAGGAG	0.602000													29	53					0	0	0.006320	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963188	73963188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73963188C>T	ENST00000373468.1	-	3	1855	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.D402N			Q5QGS0	K2022_HUMAN	KIAA2022	402					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCCATTATCCTTTCCATCT	0.443000													68	36					0	0	0.003610	0	0
LHCGR	3973	broad.mit.edu	37	2	48921445	48921445	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:48921445T>A	ENST00000294954.7	-	10	888		c.e10-2		STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Splice_Site|LHCGR_ENST00000401907.1_Splice_Site|LHCGR_ENST00000344775.3_Splice_Site|LHCGR_ENST00000405626.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor						male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAATTCTGTCTGAAAGAGAAG	0.338000													6	10					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141214114	141214114	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:141214114G>A	ENST00000389484.3	-	62	10844	c.9873C>T	c.(9871-9873)gcC>gcT	p.A3291A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3291					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A3291A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTCCAGGGGCTAAAAGGC	0.428000										TSP Lung(27;0.18)			22	57					0	0	0.001882	0	0
CNOT11	55571	broad.mit.edu	37	2	101874356	101874356	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:101874356G>A	ENST00000289382.3	+	2	781	c.618G>A	c.(616-618)ctG>ctA	p.L206L		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		AGATTGCACTGATGGACGTTG	0.493000													28	66					0	0	0.008361	0	0
PTPRB	5787	broad.mit.edu	37	12	70918312	70918312	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:70918312C>T	ENST00000334414.6	-	33	6608	c.6564G>A	c.(6562-6564)cgG>cgA	p.R2188R	PTPRB_ENST00000538708.1_Silent_p.R1880R|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000261266.5_Silent_p.R1970R|PTPRB_ENST00000451516.2_Silent_p.R1880R|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550358.1_Silent_p.R2100R|RP11-588H23.3_ENST00000549359.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Silent_p.R1880R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1970					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGTTCACTCCGTAGCTTTC	0.438000													16	38					0	0	0.004007	0	0
ATP2B2	491	broad.mit.edu	37	3	10428192	10428192	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10428192C>T	ENST00000360273.2	-	7	1350	c.912G>A	c.(910-912)gtG>gtA	p.V304V	ATP2B2_ENST00000352432.4_Silent_p.V304V|ATP2B2_ENST00000397077.1_Intron|ATP2B2_ENST00000343816.4_Silent_p.V304V|ATP2B2_ENST00000383800.4_Intron	NM_001001331.2	NP_001001331.1	Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCTTCTTCACACCTGTGT	0.512000													22	60					0	0	0.005443	0	0
CLEC18B	497190	broad.mit.edu	37	16	74444922	74444922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:74444922C>T	ENST00000339953.5	-	9	1116	c.995G>A	c.(994-996)gGg>gAg	p.G332E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	332	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCAGCACCCCGCCTTTCCT	0.617000													10	56					0	0	0.001855	0	0
ZNF679	168417	broad.mit.edu	37	7	63720629	63720629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:63720629G>A	ENST00000421025.1	+	3	339	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	ZNF679_ENST00000255746.4_Missense_Mutation_p.E24K	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTAGTCATAGAATTCTCTCT	0.423000													18	36					0	0	0.006122	0	0
ENPP4	22875	broad.mit.edu	37	6	46107600	46107600	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46107600T>C	ENST00000321037.4	+	2	510	c.280T>C	c.(280-282)Tat>Cat	p.Y94H		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	94						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAATTCCATGTATGATGCAGT	0.388000													40	109					0	0	0.007835	0	0
TRERF1	55809	broad.mit.edu	37	6	42237006	42237006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:42237006C>T	ENST00000541110.1	-	5	891	c.323G>A	c.(322-324)tGg>tAg	p.W108*	TRERF1_ENST00000354325.2_Nonsense_Mutation_p.W108*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.W108*|TRERF1_ENST00000372922.4_Nonsense_Mutation_p.W108*|TRERF1_ENST00000340840.2_Nonsense_Mutation_p.W108*			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	108					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTGCCCCCCACATCATGTT	0.592000													133	140					0	0	0.003610	0	0
CDH8	1006	broad.mit.edu	37	16	61891040	61891040	+	Missense_Mutation	SNP	G	G	A	rs150900671		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:61891040G>A	ENST00000577390.1	-	4	1604	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CDH8_ENST00000584337.1_Missense_Mutation_p.S217F|CDH8_ENST00000299345.6_Missense_Mutation_p.S217F|CDH8_ENST00000577730.1_Missense_Mutation_p.S217F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	217	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S217Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGCTCAATGGAAAAATAAGG	0.398000													25	41					0	0	0.005443	0	0
TRAV38-1	28644	broad.mit.edu	37	14	22740377	22740377	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:22740377C>T	ENST00000390464.2	+	0	284																											GCAGCCAAATCCTTCAGTCTC	0.473000													20	36					0	0	0.007413	0	0
OR1D2	4991	broad.mit.edu	37	17	2995533	2995533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:2995533C>T	ENST00000331459.1	-	1	757	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	253					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACAAAGTGTCCCATAGAAGAG	0.483000													33	39					0	0	0.003755	0	0
ST7	7982	broad.mit.edu	37	7	116859203	116859203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:116859203G>A	ENST00000265437.5	+	14	1685	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	ST7_ENST00000393443.1_Missense_Mutation_p.E413K|ST7_ENST00000323984.3_Missense_Mutation_p.E491K|ST7_ENST00000432298.1_Missense_Mutation_p.E445K|ST7_ENST00000393444.3_Missense_Mutation_p.E425K|ST7_ENST00000393447.4_Missense_Mutation_p.E448K|ST7_ENST00000422922.1_Missense_Mutation_p.E422K|ST7_ENST00000393451.3_Missense_Mutation_p.E468K|ST7_ENST00000393449.1_Missense_Mutation_p.E486K|ST7_ENST00000393446.2_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	491						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AATCTGTACAGAAACAGCAGA	0.458000													62	161					0	0	0.003610	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034738	16034738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:16034738C>T	ENST00000326742.7	-	6	803	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F11_ENST00000402119.3_Missense_Mutation_p.D268N|CYP4F11_ENST00000248041.7_Missense_Mutation_p.D268N			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	268					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGACGGCATCTGTGAAGTCG	0.532000													44	80					0	0	0.002222	0	0
NCL	4691	broad.mit.edu	37	2	232324987	232324987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:232324987C>T	ENST00000322723.4	-	6	1156	c.916G>A	c.(916-918)Gct>Act	p.A306T		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	306					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATTGAAAGCCGTAGTCGGT	0.363000													27	44					0	0	0.008361	0	0
OR4E2	26686	broad.mit.edu	37	14	22133614	22133614	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:22133614C>T	ENST00000408935.1	+	1	318	c.318C>T	c.(316-318)ctC>ctT	p.L106L		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCCTACATCTCTTTGCCTGTG	0.458000													67	180					0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168105286	168105286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168105286G>A	ENST00000409195.1	+	9	7473	c.7384G>A	c.(7384-7386)Gat>Aat	p.D2462N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2462N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2240N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2287					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACCTCAAAGGATCAGAAAAA	0.363000													27	73					0	0	0.004656	0	0
KCNS2	3788	broad.mit.edu	37	8	99441446	99441446	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:99441446C>T	ENST00000287042.4	+	2	1589	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	KCNS2_ENST00000521839.1_Silent_p.F413F	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	413						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCAATAAGTTCTCCCACTTTT	0.542000													50	113					0	0	0.003610	0	0
LOC645166	645166	broad.mit.edu	37	1	148932876	148932876	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:148932876G>A	ENST00000539543.1	+	0	132					NR_027355.1																						GTGGGAGACGGGTGAGGTACA	0.632000													10	161					0	0	0.008291	0	0
EGFR	1956	broad.mit.edu	37	7	55268881	55268881	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:55268881G>A	ENST00000275493.2	+	25	3124	c.2946_splice	c.e25-1	p.G983_splice	EGFR_ENST00000455089.1_Splice_Site_p.G938_splice|EGFR_ENST00000454757.2_Splice_Site_p.G930_splice|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	983					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			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)	TCTGCACCAGGGGGATGAAAG	0.512000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			39	70					0	0	0.008740	0	0
HBG2	3048	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5275566C>T	ENST00000380259.2	-	7	1511	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG2_ENST00000380252.1_Missense_Mutation_p.E81K|HBG2_ENST00000336906.4_Missense_Mutation_p.E91K					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGTTCACTCAGCTGG	0.507000													20	137					0	0	0.002780	0	0
WFS1	7466	broad.mit.edu	37	4	6303832	6303832	+	Silent	SNP	C	C	T	rs34384569		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:6303832C>T	ENST00000226760.1	+	8	2480	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	WFS1_ENST00000503569.1_Silent_p.F770F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	770					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCAAGAAGTTCGACCGCTACA	0.632000													93	201					0	0	0.003610	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315849	73315849	+	Silent	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:73315849C>A	ENST00000258098.6	-	3	1137	c.897G>T	c.(895-897)ctG>ctT	p.L299L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	299					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TATGGGTGAACAGCTTGGGGG	0.617000													9	28					2.17888e-05	4.49002e-05	0.006214	1	0
SERPINA3	12	broad.mit.edu	37	14	95081291	95081291	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:95081291G>A	ENST00000553947.1	+	5	1476	c.588G>A	c.(586-588)caG>caA	p.Q196Q	SERPINA3_ENST00000393080.4_Silent_p.Q171Q|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Silent_p.Q171Q|SERPINA3_ENST00000467132.1_Silent_p.Q171Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	171					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGACTTTCAGGACTCAGCTG	0.498000													29	61					0	0	0.005443	0	0
PPIB	5479	broad.mit.edu	37	15	64452372	64452372	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:64452372T>C	ENST00000300026.3	-	3	492	c.274A>G	c.(274-276)Aaa>Gaa	p.K92E	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	92	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGATGGAATTTGCTGTTTTTG	0.483000													19	62					0	0	0.001523	0	0
SORL1	6653	broad.mit.edu	37	11	121440892	121440892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:121440892C>T	ENST00000260197.7	+	23	3379	c.3250C>T	c.(3250-3252)Cgc>Tgc	p.R1084C	SORL1_ENST00000525532.1_Missense_Mutation_p.R28C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1084	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAACCAGTATCGCTGCAGCAA	0.493000													43	36					0	0	0.003214	0	0
CDC14A	8556	broad.mit.edu	37	1	100905546	100905546	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:100905546A>G	ENST00000370125.2	+	6	936	c.448A>G	c.(448-450)Atc>Gtc	p.I150V	CDC14A_ENST00000544534.1_Missense_Mutation_p.I150V|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000542213.1_Missense_Mutation_p.I92V|CDC14A_ENST00000370124.3_Missense_Mutation_p.I150V|CDC14A_ENST00000361544.6_Missense_Mutation_p.I150V|CDC14A_ENST00000336454.3_Missense_Mutation_p.I150V			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	150	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TTTGCAGGGAATCAGAAAGGT	0.333000													20	41					0	0	0.003330	0	0
DICER1	23405	broad.mit.edu	37	14	95570394	95570394	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:95570394G>A	ENST00000526495.1	-	23	3630	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S	DICER1_ENST00000393063.1_Silent_p.S1113S|DICER1_ENST00000343455.3_Silent_p.S1113S|DICER1_ENST00000527414.1_Silent_p.S1113S|DICER1_ENST00000556045.1_Intron|DICER1_ENST00000541352.1_Silent_p.S1113S			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1113					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGCTGAAGAGGAGTTAGAAA	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				12	31					0	0	0.000978	0	0
RGS5	8490	broad.mit.edu	37	1	163138122	163138122	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:163138122G>A	ENST00000313961.5	-	2	358	c.81C>T	c.(79-81)ctC>ctT	p.L27L	RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000367903.3_Silent_p.L47L|RGS5_ENST00000530507.1_Silent_p.L27L|RGS5_ENST00000527988.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	27					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CTGGCTTCTGGAGGAGAATTC	0.453000													101	276					0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459858	21459858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21459858C>T	ENST00000307378.6	-	6	1120	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E134K|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E132K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E2K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E2K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	134					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTTCCATTTTCCATACACAAG	0.343000													23	48					0	0	0.004656	0	0
PODN	127435	broad.mit.edu	37	1	53544160	53544160	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:53544160G>A	ENST00000371500.3	+	10	1406	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PODN_ENST00000312553.5_Silent_p.A374A|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.A232A	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	326					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.A374A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGGACGCGAATGTGCTGA	0.652000													23	56					0	0	0.001882	0	0
COL5A2	1290	broad.mit.edu	37	2	189904059	189904059	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:189904059C>T	ENST00000374866.3	-	51	4138	c.3864G>A	c.(3862-3864)tcG>tcA	p.S1288S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1288	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTGCTTTTTCGAGCCATCGG	0.527000													31	52					0	0	0.002445	0	0
COL4A6	1288	broad.mit.edu	37	X	107412785	107412785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:107412785G>A	ENST00000394872.2	-	37	3865	c.3634C>T	c.(3634-3636)Cca>Tca	p.P1212S	COL4A6_ENST00000545689.1_Missense_Mutation_p.P1187S|COL4A6_ENST00000372216.4_Missense_Mutation_p.P1212S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1187S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P1211S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1212	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAATTCCTGGATATCCTTTT	0.587000									Alport syndrome with Diffuse Leiomyomatosis				23	13					0	0	0.003330	0	0
CFB	629	broad.mit.edu	37	6	31918679	31918679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31918679C>T	ENST00000556679.1	+	26	3374	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	CFB_ENST00000456570.1_Nonsense_Mutation_p.R1107*|CFB_ENST00000425368.2_Nonsense_Mutation_p.R605*|CFB_ENST00000477310.1_Nonsense_Mutation_p.R956*			P00751	CFAB_HUMAN	complement factor B	605					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGAACAACTCGAGCTTTGAG	0.527000													119	376					0	0	0.003610	0	0
TENM3	55714	broad.mit.edu	37	4	183694705	183694705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183694705C>T	ENST00000511685.1	+	23	5096	c.4973C>T	c.(4972-4974)gCt>gTt	p.A1658V	TENM3_ENST00000406950.2_Missense_Mutation_p.A1658V|RP11-18D7.2_ENST00000513255.1_RNA					teneurin transmembrane protein 3																		ATGGACAAGGCTATCACAGTG	0.438000													41	85					0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9088160	9088160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9088160G>A	ENST00000397910.4	-	1	3858	c.3655C>T	c.(3655-3657)Ccc>Tcc	p.P1219S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1219	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1219S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCAAGGGAACCAGGGTG	0.502000													181	194					0	0	0.003610	0	0
IDS	3423	broad.mit.edu	37	X	148579812	148579812	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:148579812G>A	ENST00000340855.6	-	5	743	c.534C>T	c.(532-534)ctC>ctT	p.L178L	IDS_ENST00000370441.4_Silent_p.L178L|IDS_ENST00000370443.4_Silent_p.L178L|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	178						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGTTGGCATGGAGTTCTCCAT	0.458000													27	12					0	0	0.003954	0	0
ZNF217	7764	broad.mit.edu	37	20	52192361	52192361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:52192361G>A	ENST00000371471.2	-	4	3367	c.2942C>T	c.(2941-2943)cCa>cTa	p.P981L	ZNF217_ENST00000302342.3_Missense_Mutation_p.P981L			O75362	ZN217_HUMAN	zinc finger protein 217	981					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGCACATTTGGAGAATCGAC	0.552000													32	37					0	0	0.002445	0	0
PIGF	5281	broad.mit.edu	37	2	46815296	46815296	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:46815296C>A	ENST00000306465.4	-	6	671	c.569G>T	c.(568-570)aGc>aTc	p.S190I	PIGF_ENST00000281382.6_Intron	NM_173074.2	NP_775097.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	0					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			tctataagtgctaCGTTTTCT	0.388000													33	38					8.88839e-20	1.85341e-19	0.002096	1	0
ZNF730	100129543	broad.mit.edu	37	19	23329182	23329182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:23329182C>T	ENST00000597761.2	+	4	1535	c.1336C>T	c.(1336-1338)Cat>Tat	p.H446Y		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.H446N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATACTGGAGA	0.388000													8	21					0	0	0.004482	0	0
TENM2	57451	broad.mit.edu	37	5	167420048	167420048	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:167420048C>T	ENST00000519204.1	+	4	802	c.684C>T	c.(682-684)ccC>ccT	p.P228P	TENM2_ENST00000518659.1_Silent_p.P349P|TENM2_ENST00000403607.2_Silent_p.P182P|TENM2_ENST00000545108.1_Silent_p.P349P|TENM2_ENST00000520394.1_Silent_p.P158P					teneurin transmembrane protein 2																		CGCCCCCGCCCCGCCTGCTGC	0.587000													23	33					0	0	0.004656	0	0
FBN1	2200	broad.mit.edu	37	15	48788334	48788334	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:48788334C>T	ENST00000316623.5	-	20	2837	c.2382G>A	c.(2380-2382)aaG>aaA	p.K794K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	794	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGATAAATCCCTTGGGGCAGG	0.353000													14	55					0	0	0.001855	0	0
OR56B1	387748	broad.mit.edu	37	11	5758008	5758008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5758008C>T	ENST00000317121.3	+	1	328	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P88S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TACTATCATCCCTAAGATCCT	0.473000													22	35					0	0	0.001882	0	0
IMPG1	3617	broad.mit.edu	37	6	76751653	76751653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:76751653C>T	ENST00000369950.3	-	2	447	c.258G>A	c.(256-258)atG>atA	p.M86I	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	86					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAATCTGTTTCATGGATTCCT	0.388000													30	37					0	0	0.002096	0	0
MC2R	4158	broad.mit.edu	37	18	13884926	13884926	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:13884926G>A	ENST00000327606.3	-	2	772	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	198					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGAGCCAGCAGGAACATGTGC	0.557000													24	33					0	0	0.002780	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002792	52002792	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52002792G>A	ENST00000291707.3	-	3	1042	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SIGLEC12_ENST00000598614.1_Silent_p.L211L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	329	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGTGGGATGAGGCTGAGCA	0.652000													18	21					0	0	0.007413	0	0
OTOF	9381	broad.mit.edu	37	2	26725247	26725247	+	Missense_Mutation	SNP	G	G	A	rs138720253		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:26725247G>A	ENST00000272371.2	-	7	757	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	OTOF_ENST00000403946.3_Missense_Mutation_p.R211W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	211					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCTAGCCGAATGGCCAGA	0.562000													14	21					0	0	0.004990	0	0
PSG5	5673	broad.mit.edu	37	19	43683253	43683253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43683253C>T	ENST00000599812.1	-	3	582	c.487G>A	c.(487-489)Gag>Aag	p.E163K	PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	163	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATCACAGCCTCCATGGCCTCC	0.527000													55	58					0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24177770	24177770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24177770C>T	ENST00000265769.4	+	7	708	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Nonsense_Mutation_p.Q200*|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	200					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGAAGGTTCAGGAACATGA	0.308000													24	57					0	0	0.008361	0	0
LDB2	9079	broad.mit.edu	37	4	16513650	16513650	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:16513650C>T	ENST00000502640.1	-	6	841	c.693G>A	c.(691-693)ctG>ctA	p.L231L	LDB2_ENST00000515064.1_Silent_p.L231L|LDB2_ENST00000441778.2_Silent_p.L231L|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_Silent_p.L107L|LDB2_ENST00000304523.5_Silent_p.L231L			O43679	LDB2_HUMAN	LIM domain binding 2	231							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AGCAGGTCTTCAGGCAGTCTC	0.473000													27	48					0	0	0.004656	0	0
FAT3	120114	broad.mit.edu	37	11	92623991	92623991	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:92623991C>T	ENST00000298047.6	+	27	13499	c.13482C>T	c.(13480-13482)ctC>ctT	p.L4494L	FAT3_ENST00000525166.1_Silent_p.L4344L|FAT3_ENST00000533797.1_Silent_p.L797L|FAT3_ENST00000409404.2_Silent_p.L4462L|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4494	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCAGTATCTCCCTCCTCACC	0.582000										TCGA Ovarian(4;0.039)			144	141					0	0	0.003610	0	0
PARP1	142	broad.mit.edu	37	1	226580645	226580645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:226580645C>T	ENST00000366792.1	-	3	468	c.323G>A	c.(322-324)aGa>aAa	p.R108K	PARP1_ENST00000366794.5_Intron|PARP1_ENST00000366791.5_Missense_Mutation_p.R108K			P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	0					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		acgaagctatcttcccatcac	0.343000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					7	28					0	0	0.003080	0	0
AKR7L	246181	broad.mit.edu	37	1	19597390	19597390	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:19597390G>A	ENST00000420396.2	-	0	253				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						AGGCTTCAGGGAGTTCCCAAT	0.522000													19	35					0	0	0.002780	0	0
UNC5D	137970	broad.mit.edu	37	8	35608272	35608272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:35608272C>T	ENST00000287272.2	+	12	1921	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	UNC5D_ENST00000404895.2_Missense_Mutation_p.S703F|UNC5D_ENST00000453357.2_Missense_Mutation_p.S698F|UNC5D_ENST00000420357.1_Missense_Mutation_p.S636F|UNC5D_ENST00000449677.1_Missense_Mutation_p.S279F|UNC5D_ENST00000416672.1_Missense_Mutation_p.S708F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	703	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCTGTAACTCCCTGGATTAC	0.458000													44	117					0	0	0.003610	0	0
POLA2	23649	broad.mit.edu	37	11	65046209	65046209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:65046209C>T	ENST00000265465.3	+	6	1001	c.470C>T	c.(469-471)cCc>cTc	p.P157L	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	157	Pro/Ser/Thr-rich.				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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGTGCTACTCCCTCCCAGAAA	0.448000													54	110					0	0	0.003610	0	0
NOD2	64127	broad.mit.edu	37	16	50745788	50745788	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:50745788G>C	ENST00000300589.2	+	4	2071	c.1966G>C	c.(1966-1968)Gac>Cac	p.D656H		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	656					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAGGGAAAGGACAGCAGCGT	0.617000													20	39					0	0	0.001523	0	0
MYH15	22989	broad.mit.edu	37	3	108147639	108147639	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:108147639G>T	ENST00000273353.3	-	28	3518	c.3462C>A	c.(3460-3462)gaC>gaA	p.D1154E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1154						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCAGCCAGGTCTTGGGTGA	0.473000													46	116					1.42923e-14	2.96652e-14	0.003610	1	0
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64525340C>T	ENST00000164139.3	-	5	969	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PYGM_ENST00000377432.3_Missense_Mutation_p.E103K	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607000													21	40					0	0	0.002299	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:65527628G>A	ENST00000310193.3	-	4	1185	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000													18	39					0	0	0.003330	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865109	140865109	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140865109C>T	ENST00000306593.1	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGAGATCGTAGATGTGA	0.577000													44	35					0	0	0.003610	0	0
ZNF71	58491	broad.mit.edu	37	19	57133360	57133360	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:57133360C>T	ENST00000328070.6	+	3	939	c.705C>T	c.(703-705)atC>atT	p.I235I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGAGCGGATCCACACGGGGG	0.652000													11	15					0	0	0.000978	0	0
PTGIS	5740	broad.mit.edu	37	20	48130814	48130814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:48130814G>A	ENST00000244043.4	-	7	1003	c.974C>T	c.(973-975)tCg>tTg	p.S325L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	325					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTCGTCTGCGAGACAGGCTG	0.572000													22	55					0	0	0.001882	0	0
SALL3	27164	broad.mit.edu	37	18	76753362	76753362	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:76753362C>T	ENST00000536229.3	+	1	1681	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SALL3_ENST00000575389.2_Silent_p.F457F|SALL3_ENST00000537592.2_Silent_p.F457F			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAACCGCTTCTCCACCAAAG	0.612000													8	21					0	0	0.003080	0	0
ZNF471	57573	broad.mit.edu	37	19	57036478	57036478	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:57036478T>A	ENST00000308031.5	+	5	1175	c.1042T>A	c.(1042-1044)Tgt>Agt	p.C348S	ZNF471_ENST00000591537.1_Missense_Mutation_p.N207K|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCCTATGAATGTATTGAGTG	0.413000													26	39					0	0	0.004656	0	0
BAGE2	85319	broad.mit.edu	37	21	11038737	11038737	+	RNA	SNP	C	C	T	rs66512558		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:11038737C>T	ENST00000470054.1	-	0	1466									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTTTGGACCGAGGTCTAC	0.378000													18	127					0	0	0.001523	0	0
PIGG	54872	broad.mit.edu	37	4	515031	515031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:515031C>T	ENST00000453061.2	+	7	1407	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PIGG_ENST00000536264.1_Intron|PIGG_ENST00000504346.1_Missense_Mutation_p.S345L|PIGG_ENST00000383028.4_Missense_Mutation_p.S301L|PIGG_ENST00000310340.5_Missense_Mutation_p.S434L|PIGG_ENST00000296306.7_Intron|PIGG_ENST00000509768.1_Missense_Mutation_p.S345L|PIGG_ENST00000503111.1_Intron	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	434					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GACATCTATTCGATGATGGTG	0.488000													11	29					0	0	0.000978	0	0
SPOCK3	50859	broad.mit.edu	37	4	167983649	167983649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:167983649C>T	ENST00000357154.3	-	4	375	c.238G>A	c.(238-240)Gat>Aat	p.D80N	SPOCK3_ENST00000421836.2_Missense_Mutation_p.D29N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D80N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D77N|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D77N|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D80N|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D77N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D77N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D77N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D80N|SPOCK3_ENST00000541637.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	80					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTACCCTGATCGAAGGGTTTT	0.323000													18	44					0	0	0.007413	0	0
VCAN	1462	broad.mit.edu	37	5	82838005	82838005	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:82838005C>T	ENST00000265077.3	+	8	9748	c.9183C>T	c.(9181-9183)tcC>tcT	p.S3061S	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.S2074S|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3061	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACCATTTTCCCTTCTGGAGA	0.418000													42	81					0	0	0.002222	0	0
HTR5A	3361	broad.mit.edu	37	7	154876070	154876070	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:154876070C>T	ENST00000287907.2	+	2	1523	c.947C>T	c.(946-948)cCc>cTc	p.P316L	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	316						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGTGACATCCCCGCCATCTGG	0.547000													46	111					0	0	0.003610	0	0
TRPM5	29850	broad.mit.edu	37	11	2443453	2443453	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:2443453C>T	ENST00000452833.1	-	2	224	c.216G>A	c.(214-216)gtG>gtA	p.V72V	TRPM5_ENST00000533060.1_Silent_p.V72V|TRPM5_ENST00000155858.6_Silent_p.V72V|TRPM5_ENST00000528453.1_Silent_p.V72V			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	72						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCCTCACCCACCAGGGACA	0.662000													79	161					0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31599282	31599282	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:31599282C>T	ENST00000261592.5	-	6	1353	c.1056_splice	c.e6+1	p.K352_splice	NOL4_ENST00000269185.4_Splice_Site_p.K238_splice|NOL4_ENST00000535475.1_Splice_Site_p.K197_splice|NOL4_ENST00000538587.1_Splice_Site_p.K278_splice|NOL4_ENST00000535384.1_Splice_Site_p.K67_splice|NOL4_ENST00000589544.1_Splice_Site_p.K352_splice	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	352						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTGATCATACCTTGCTTCCAT	0.323000													16	36					0	0	0.007413	0	0
THSD7B	80731	broad.mit.edu	37	2	137852488	137852488	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:137852488C>T	ENST00000409968.1	+	4	1174	c.996C>T	c.(994-996)atC>atT	p.I332I	THSD7B_ENST00000543459.1_Silent_p.I191I|THSD7B_ENST00000413152.2_Silent_p.I301I|THSD7B_ENST00000272643.3_Silent_p.I332I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTCCTGCATCATGCCCAAAG	0.488000													47	109					0	0	0.003610	0	0
STAT4	6775	broad.mit.edu	37	2	191919235	191919235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:191919235G>A	ENST00000392320.2	-	14	1546	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	STAT4_ENST00000358470.4_Missense_Mutation_p.A411V	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	411					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTTACCTCCAGCACTGGACTT	0.323000													61	115					0	0	0.003610	0	0
KIF21A	55605	broad.mit.edu	37	12	39734154	39734154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:39734154G>A	ENST00000395670.3	-	16	2542	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F	KIF21A_ENST00000541463.2_Missense_Mutation_p.S695F|KIF21A_ENST00000361961.3_Missense_Mutation_p.S695F|KIF21A_ENST00000361418.5_Missense_Mutation_p.S708F|KIF21A_ENST00000544797.2_Missense_Mutation_p.S695F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	708					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGAGTAAGATTCTACCGA	0.343000													5	10					0	0	0.001168	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013888	156013888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156013888G>A	ENST00000368309.3	-	6	1119	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	343						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CCGGACCCGGGGGCCTGGGAG	0.697000													6	42					0	0	0.001984	0	0
MAPK4	5596	broad.mit.edu	37	18	48190830	48190830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48190830G>A	ENST00000400384.2	+	2	1538	c.502G>A	c.(502-504)Gat>Aat	p.D168N	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.D168N|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000592595.1_Missense_Mutation_p.D168N	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	168	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAAGATTGGGGATTTCGGGTT	0.547000													57	68					0	0	0.003610	0	0
GOSR1	9527	broad.mit.edu	37	17	28817161	28817161	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:28817161C>T	ENST00000225724.5	+	5	438	c.366C>T	c.(364-366)ttC>ttT	p.F122F	GOSR1_ENST00000467337.2_Silent_p.F57F|GOSR1_ENST00000581721.1_Silent_p.F122F|GOSR1_ENST00000451249.2_Silent_p.F120F	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	122					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CACATGAATTCCATAAAACCA	0.328000													7	20					0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79396720	79396720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:79396720C>T	ENST00000264895.6	+	54	8251	c.7811C>T	c.(7810-7812)tCc>tTc	p.S2604F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2599	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGGTCAGCTCCCAACCTGGG	0.607000													44	90					0	0	0.003610	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224479	172224479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:172224479G>A	ENST00000241261.2	-	5	771	c.649C>T	c.(649-651)Cct>Tct	p.P217S	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	217					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATAGGGTCAGGATAACTTGTG	0.338000													45	90					0	0	0.003214	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957604	52957604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:52957604C>T	ENST00000281741.4	-	10	1247	c.876G>A	c.(874-876)tgG>tgA	p.W292*	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	292					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCCAAGCAACCCATTCTGCAG	0.393000													17	78					0	0	0.007413	0	0
PCBP4	57060	broad.mit.edu	37	3	51994267	51994267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:51994267G>A	ENST00000461554.1	-	7	656	c.325C>T	c.(325-327)Cct>Tct	p.P109S	PCBP4_ENST00000355852.2_Missense_Mutation_p.P109S|PCBP4_ENST00000322099.7_Missense_Mutation_p.P109S|PCBP4_ENST00000428823.2_Missense_Mutation_p.P109S|PCBP4_ENST00000395014.2_Missense_Mutation_p.P75S|PCBP4_ENST00000471622.1_Missense_Mutation_p.P109S|PCBP4_ENST00000484633.1_Missense_Mutation_p.P109S|PCBP4_ENST00000395013.3_Missense_Mutation_p.P32S	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	109	KH 2.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACTGGCAGGGATGACAAGG	0.597000													22	43					0	0	0.002299	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													5	101					0	0	0.001984	0	0
ATP11C	286410	broad.mit.edu	37	X	138869362	138869362	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:138869362C>G	ENST00000370557.1	-	15	2589	c.1562G>C	c.(1561-1563)aGa>aCa	p.R521T	ATP11C_ENST00000359686.2_Missense_Mutation_p.R524T|ATP11C_ENST00000361648.2_Missense_Mutation_p.R524T|ATP11C_ENST00000327569.3_Missense_Mutation_p.R524T|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R524T			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	524					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTACTCTCATATATCC	0.313000													15	16					0	0	0.004990	0	0
VWA8	23078	broad.mit.edu	37	13	42249370	42249370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:42249370G>A	ENST00000379310.3	-	36	4458	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGGATATATCGGAGTTTCTTT	0.333000													14	34					0	0	0.004990	0	0
SETBP1	26040	broad.mit.edu	37	18	42643132	42643132	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:42643132C>T	ENST00000282030.5	+	6	4556	c.4260C>T	c.(4258-4260)atC>atT	p.I1420I		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1420						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACACCAAGATCCTGTCCACCA	0.552000									Schinzel-Giedion syndrome				14	32					0	0	0.003163	0	0
SFT2D2	375035	broad.mit.edu	37	1	168211762	168211762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:168211762C>T	ENST00000271375.3	+	8	539	c.467C>T	c.(466-468)gCc>gTc	p.A156V	SFT2D2_ENST00000367825.3_3'UTR	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					AAGTGTTTTGCCGTGTGTCTT	0.458000													91	93					0	0	0.003610	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666382	45666382	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45666382C>T	ENST00000270172.3	-	12	1545	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	DNMT3L_ENST00000418993.1_Silent_p.S353S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	353					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCGCGAGCTTCGAGCTCTGCT	0.522000													24	42					0	0	0.002780	0	0
NBPF1	55672	broad.mit.edu	37	1	16907369	16907369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16907369G>A	ENST00000430580.2	-	16	2349	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	488	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTCACAAGGGCCGTGGCTA	0.498000													71	1123					0	0	0.003610	0	0
SH3BP2	6452	broad.mit.edu	37	4	2826382	2826382	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:2826382C>T	ENST00000442312.2	+	4	545	c.366C>T	c.(364-366)ttC>ttT	p.F122F	SH3BP2_ENST00000511747.1_Silent_p.F94F|SH3BP2_ENST00000503393.2_Silent_p.F151F|SH3BP2_ENST00000356331.5_Silent_p.F94F|SH3BP2_ENST00000452765.2_Silent_p.F94F|SH3BP2_ENST00000435136.2_Silent_p.F94F	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	94	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACAACGTTTTCCCCTTCAAGA	0.622000									Cherubism				26	53					0	0	0.006320	0	0
SPAG17	200162	broad.mit.edu	37	1	118571014	118571014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:118571014C>T	ENST00000336338.5	-	26	3678	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1205						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTACTTCTTCTTCCTGTAAA	0.408000													29	73					0	0	0.002836	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328960	88328960	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:88328960C>T	ENST00000325089.6	+	2	1536	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	SLITRK5_ENST00000400028.3_Silent_p.H198H	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	439						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCTCCTGCACCTGGGGAATA	0.572000													15	37					0	0	0.004990	0	0
RRN3P2	653390	broad.mit.edu	37	16	29124379	29124379	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:29124379G>A	ENST00000564580.1	+	0	1457																											AGTTGTTCTGGAGAATCATGT	0.348000													15	24					0	0	0.004007	0	0
OR2G2	81470	broad.mit.edu	37	1	247752016	247752016	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247752016G>T	ENST00000320065.1	+	1	355	c.355G>T	c.(355-357)Gct>Tct	p.A119S	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CGTCCTCCCGGCTGTGATGTC	0.527000													52	92					1.53716e-24	3.21165e-24	0.003610	1	0
SLC9C2	284525	broad.mit.edu	37	1	173567107	173567107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173567107G>A	ENST00000367714.3	-	4	715	c.293C>T	c.(292-294)cCt>cTt	p.P98L	SLC9C2_ENST00000536496.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	98					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TATAATTAAAGGTGAAAAGTA	0.303000													43	89					0	0	0.007835	0	0
TPR	7175	broad.mit.edu	37	1	186289548	186289548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:186289548G>A	ENST00000367478.3	-	46	6760	c.6464C>T	c.(6463-6465)tCg>tTg	p.S2155L		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2155					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S2142L(2)|p.S2155L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACCTGCGGCGAACTAAATGG	0.388000			T	NTRK1	papillary thyroid								8	38					0	0	0.004482	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706431	21706431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:21706431G>A	ENST00000281523.2	-	2	630	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	38						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGGAAAGGGAAGAAATGGT	0.512000													17	51					0	0	0.008871	0	0
FN1	2335	broad.mit.edu	37	2	216289985	216289985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:216289985G>A	ENST00000354785.4	-	7	1237	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FN1_ENST00000421182.1_Missense_Mutation_p.R290C|FN1_ENST00000446046.1_Missense_Mutation_p.R290C|FN1_ENST00000357009.2_Missense_Mutation_p.R290C|FN1_ENST00000346544.3_Missense_Mutation_p.R290C|FN1_ENST00000356005.4_Missense_Mutation_p.R290C|FN1_ENST00000357867.4_Missense_Mutation_p.R290C|FN1_ENST00000443816.1_Missense_Mutation_p.R290C|FN1_ENST00000359671.1_Missense_Mutation_p.R290C|FN1_ENST00000432072.2_Missense_Mutation_p.R290C|FN1_ENST00000345488.5_Missense_Mutation_p.R290C|FN1_ENST00000336916.4_Missense_Mutation_p.R290C|FN1_ENST00000323926.6_Missense_Mutation_p.R290C|FN1_ENST00000426059.1_Missense_Mutation_p.R290C			P02751	FINC_HUMAN	fibronectin 1	290					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCACGAACATCGGTG	0.527000													55	122					0	0	0.003610	0	0
MROH2B	133558	broad.mit.edu	37	5	41015499	41015499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:41015499G>A	ENST00000399564.4	-	29	3416	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	MROH2B_ENST00000506092.2_Missense_Mutation_p.S544F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.S989Y(1)									TATTTTAGAAGAAATCTTGAT	0.418000													17	41					0	0	0.008871	0	0
PCNXL2	80003	broad.mit.edu	37	1	233137423	233137423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:233137423C>T	ENST00000258229.8	-	29	5191	c.4957G>A	c.(4957-4959)Gat>Aat	p.D1653N	PCNXL2_ENST00000344698.2_Missense_Mutation_p.D305N	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1653						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGAAAGAATCCAGGCTGCAA	0.408000													4	12					0	0	0.000602	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089203	220089203	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:220089203A>T	ENST00000366926.3	-	4	1207	c.1046T>A	c.(1045-1047)cTg>cAg	p.L349Q	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.L104Q	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	349					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTTGATGTGCAGGGTGGCAAT	0.438000													49	151					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98586570	98586570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:98586570C>T	ENST00000359863.4	+	62	9793	c.9584C>T	c.(9583-9585)tCg>tTg	p.S3195L	TRRAP_ENST00000355540.3_Missense_Mutation_p.S3166L|TRRAP_ENST00000446306.3_Missense_Mutation_p.S3166L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3195	FAT.				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)			GAGAGCAAATCGAGGAAATAC	0.502000													6	27					0	0	0.001168	0	0
COX7A2	1347	broad.mit.edu	37	6	75950054	75950054	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:75950054G>A	ENST00000370081.2	-	4	562	c.252C>T	c.(250-252)gcC>gcT	p.A84A	COX7A2_ENST00000509698.1_Silent_p.A52A|COX7A2_ENST00000472311.2_Intron|COX7A2_ENST00000230459.4_Silent_p.A52A|COX7A2_ENST00000460985.1_Silent_p.A22A|COX7A2_ENST00000370089.2_Silent_p.A84A			P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	52						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TATACAGGAGGGCATCAGCTA	0.343000													25	55					0	0	0.002445	0	0
SAMD3	154075	broad.mit.edu	37	6	130476170	130476170	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:130476170C>T	ENST00000368134.2	-	11	1431	c.822_splice	c.e11-1	p.E275_splice	SAMD3_ENST00000437477.2_Splice_Site_p.E275_splice|SAMD3_ENST00000457563.2_Splice_Site_p.E299_splice|SAMD3_ENST00000439090.2_Splice_Site_p.E275_splice	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	275										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACAGCTTCTTCCTGCAAAACA	0.353000													18	22					0	0	0.002780	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455313	70455313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:70455313G>A	ENST00000503640.1	-	6	1416	c.1361C>T	c.(1360-1362)cCc>cTc	p.P454L	UGT2A2_ENST00000457664.2_Missense_Mutation_p.P463L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P620L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P454L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P410L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	454					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCGATCCAGGGGCTTTACAGG	0.438000													41	85					0	0	0.002852	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058891	152058891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152058891C>T	ENST00000368806.1	-	3	1331	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	423							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TACTTCCCATCCTGTGTTTGG	0.458000													50	165					0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104063395	104063395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:104063395G>A	ENST00000388887.2	+	21	2453	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	750	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGCTCAGGAAATGGACAG	0.413000													25	33					0	0	0.003954	0	0
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:51254950G>A	ENST00000404971.1	-	2	1801	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_ENST00000406859.3_Silent_p.F154F|NRXN1_ENST00000401669.2_Silent_p.F154F|NRXN1_ENST00000405472.3_Silent_p.F154F|NRXN1_ENST00000402717.3_Silent_p.F154F|NRXN1_ENST00000405581.1_Silent_p.F154F|NRXN1_ENST00000406316.2_Silent_p.F154F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662000													9	15					0	0	0.004482	0	0
ZNF90	7643	broad.mit.edu	37	19	20228869	20228869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20228869G>A	ENST00000418063.2	+	4	618	c.506G>A	c.(505-507)gGa>gAa	p.G169E	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	169						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAGATACTGGAAAAAAACCT	0.343000													6	11					0	0	0.003080	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856133	129856133	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:129856133G>A	ENST00000297819.3	+	3	609	c.558G>A	c.(556-558)agG>agA	p.R186R		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1																		AGAGGCAAAGGAATCTGGGAA	0.498000													37	87					0	0	0.004878	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555903	155555903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:155555903G>A	ENST00000295101.2	+	1	1093	c.616G>A	c.(616-618)Gac>Aac	p.D206N	KCNJ3_ENST00000544049.1_Missense_Mutation_p.D206N	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	206					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCCATGAGGGACGGAAAACT	0.592000													7	21					0	0	0.001984	0	0
RSBN1	54665	broad.mit.edu	37	1	114308972	114308972	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:114308972C>G	ENST00000261441.5	-	7	2102	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	680						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGACATTTCTAGGGATGAA	0.438000													32	79					0	0	0.002445	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313648	162313648	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:162313648G>A	ENST00000361897.5	+	6	879	c.477G>A	c.(475-477)cgG>cgA	p.R159R	NOS1AP_ENST00000530878.1_Silent_p.R154R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	159	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAATCGTTCGGACGGTGGGGC	0.562000													31	141					0	0	0.004289	0	0
ZNF521	25925	broad.mit.edu	37	18	22804660	22804660	+	Silent	SNP	G	G	A	rs111582451		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:22804660G>A	ENST00000361524.3	-	4	3370	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ZNF521_ENST00000584787.1_Silent_p.F854F|ZNF521_ENST00000538137.2_Silent_p.F1074F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1074					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGGAACGGAATTCTTTGA	0.517000			T	PAX5	ALL								34	70					0	0	0.003271	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803026	185803026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185803026C>T	ENST00000302277.6	+	4	3497	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	968						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCCTAAATCCTATCTTTGC	0.383000													21	58					0	0	0.001523	0	0
DENND1C	79958	broad.mit.edu	37	19	6475371	6475371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6475371C>T	ENST00000381480.2	-	14	1079	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	DENND1C_ENST00000543576.1_Missense_Mutation_p.A279T	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	323						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TCCCCGGGGGCCAGGGCGACC	0.711000													4	12					0	0	0.000248	0	0
TRBV9	28586	broad.mit.edu	37	7	142239685	142239685	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142239685G>A	ENST00000390363.2	-	0	241																											AATACTGAATGAGGAACTGGA	0.502000													28	35					0	0	0.006320	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806562	6806562	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6806562C>T	ENST00000307401.4	+	1	315	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGGCTGTGCCCTTCAGATGT	0.532000													27	65					0	0	0.008361	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477252	110477252	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110477252C>T	ENST00000378402.5	+	49	8295	c.8191C>T	c.(8191-8193)Cca>Tca	p.P2731S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2731					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGGTTCTCCCATTTAGTGA	0.453000										HNSCC(38;0.096)			59	123					0	0	0.003610	0	0
BCR	613	broad.mit.edu	37	22	23523851	23523851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:23523851C>T	ENST00000305877.8	+	1	1455	c.704C>T	c.(703-705)tCc>tTc	p.S235F	BCR_ENST00000398512.5_Missense_Mutation_p.S235F|BCR_ENST00000359540.3_Missense_Mutation_p.S235F	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	235	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGGGACGCTCCTCGGAGAGC	0.672000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								22	37					0	0	0.003330	0	0
DCTN1	1639	broad.mit.edu	37	2	74597462	74597462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74597462G>A	ENST00000361874.3	-	12	1455	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	DCTN1_ENST00000409438.1_Missense_Mutation_p.L246F|DCTN1_ENST00000409240.1_Missense_Mutation_p.L343F|DCTN1_ENST00000409868.1_Missense_Mutation_p.L363F|DCTN1_ENST00000409567.3_Missense_Mutation_p.L360F|DCTN1_ENST00000407639.2_Missense_Mutation_p.L246F|DCTN1_ENST00000394003.3_Missense_Mutation_p.L373F	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	380					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGAAGAAAGATCCCGCATC	0.522000													17	40					0	0	0.004990	0	0
IFT122	55764	broad.mit.edu	37	3	129221680	129221680	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:129221680C>T	ENST00000296266.3	+	21	2847	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	IFT122_ENST00000504021.1_Silent_p.L710L|IFT122_ENST00000440957.2_Silent_p.L625L|IFT122_ENST00000431818.2_Silent_p.L684L|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000349441.2_Silent_p.L723L|IFT122_ENST00000348417.2_Silent_p.L834L|IFT122_ENST00000347300.2_Silent_p.L775L|IFT122_ENST00000507564.1_Silent_p.L826L	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	834					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGGTGACCTCAAGTCCCTGG	0.637000													17	56					0	0	0.006122	0	0
NTN3	4917	broad.mit.edu	37	16	2522890	2522890	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2522890G>A	ENST00000293973.1	+	2	1320	c.1117_splice	c.e2+1	p.A373_splice		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	373					axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCTTGCAGGGGTGAGCCACC	0.677000													10	9					0	0	0.006214	0	0
IGSF10	285313	broad.mit.edu	37	3	151171407	151171407	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151171407C>T	ENST00000282466.3	-	3	479	c.480G>A	c.(478-480)ttG>ttA	p.L160L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	160					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATTTCCTTCCAAGTGCACCA	0.423000													25	43					0	0	0.003330	0	0
FMO3	2328	broad.mit.edu	37	1	171080040	171080040	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:171080040C>T	ENST00000367755.4	+	6	840	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FMO3_ENST00000538429.1_Silent_p.L180L|FMO3_ENST00000392085.2_Silent_p.L243L|FMO3_ENST00000542847.1_Silent_p.L223L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	243					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAACCTTCCTCAAGAACAATT	0.473000													44	140					0	0	0.003214	0	0
PAPPA	5069	broad.mit.edu	37	9	118997643	118997643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:118997643C>T	ENST00000328252.3	+	7	2828	c.2459C>T	c.(2458-2460)gCt>gTt	p.A820V	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	820					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACTGTTGGCTGTCAGTGGG	0.532000													8	20					0	0	0.004482	0	0
CBX7	23492	broad.mit.edu	37	22	39530002	39530002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:39530002G>A	ENST00000216133.5	-	6	855	c.650C>T	c.(649-651)tCa>tTa	p.S217L	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.S124L	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	217					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CACCTCACTTGAGGGGAGCGC	0.657000													41	99					0	0	0.003214	0	0
PROM2	150696	broad.mit.edu	37	2	95945724	95945724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:95945724C>T	ENST00000317620.9	+	11	1539	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	PROM2_ENST00000403131.2_Missense_Mutation_p.A469V|PROM2_ENST00000542147.1_Missense_Mutation_p.A469V|PROM2_ENST00000317668.4_Missense_Mutation_p.A469V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	469						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGGCGAGGCTGGAGCCCGC	0.627000													11	42					0	0	0.001368	0	0
OR51A7	119687	broad.mit.edu	37	11	4928916	4928916	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4928916G>T	ENST00000359350.4	+	1	317	c.317G>T	c.(316-318)gGa>gTa	p.G106V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATTCATGGATTCACTGTC	0.433000													25	72					2.12542e-12	4.40285e-12	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179665268	179665268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179665268C>T	ENST00000589042.1	-	4	661	c.437G>A	c.(436-438)aGc>aAc	p.S146N	TTN_ENST00000591111.1_Missense_Mutation_p.S146N|TTN_ENST00000342175.6_Missense_Mutation_p.S146N|TTN_ENST00000460472.2_Missense_Mutation_p.S146N|TTN_ENST00000360870.5_Missense_Mutation_p.S146N|TTN_ENST00000359218.5_Missense_Mutation_p.S146N|TTN_ENST00000342992.6_Missense_Mutation_p.S146N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	146	Ig-like 2.						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)			ATCAAGGGAGCTCTGGATTTC	0.498000													40	88					0	0	0.002522	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144524	12144524	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12144524C>T	ENST00000263932.2	+	2	289	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	23					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCAGGATCGACCCTTCGA	0.592000													23	77					0	0	0.001786	0	0
DDX60	55601	broad.mit.edu	37	4	169146808	169146808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169146808G>A	ENST00000393743.3	-	34	4844	c.4553C>T	c.(4552-4554)cCt>cTt	p.P1518L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1518							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAATCCTCAGGGAGATCATC	0.353000													5	34					0	0	0.000602	0	0
ABCA6	23460	broad.mit.edu	37	17	67092928	67092928	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67092928G>A	ENST00000284425.2	-	24	3309	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1045					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCATAGCTGGGACTTAGCAT	0.323000													14	28					0	0	0.004007	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924818	89924818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89924818C>T	ENST00000378247.3	+	8	1218	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	SPIRE2_ENST00000393062.2_Missense_Mutation_p.S392L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	392					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ATCAACCTGTCAGTCACAGAT	0.637000													42	91					0	0	0.002222	0	0
IPO11	51194	broad.mit.edu	37	5	61779984	61779984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:61779984G>A	ENST00000325324.6	+	11	1338	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	IPO11_ENST00000409296.3_Missense_Mutation_p.G430D|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	390						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GACCCAGAAGGCTTTAGTAAG	0.313000													14	40					0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	185880845	185880845	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:185880845T>C	ENST00000271588.4	+	6	1062	c.833T>C	c.(832-834)tTa>tCa	p.L278S	HMCN1_ENST00000367492.2_Missense_Mutation_p.L278S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	278					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGAGCTATTAAATATCCAT	0.388000													67	216					0	0	0.003610	0	0
PLEK2	26499	broad.mit.edu	37	14	67859137	67859137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:67859137C>T	ENST00000216446.4	-	6	817	c.677G>A	c.(676-678)aGc>aAc	p.S226N		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	226					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CTTTTTGTAGCTCTCAGCCTA	0.537000													30	66					0	0	0.003271	0	0
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:35770971C>T	ENST00000187397.4	+	15	1858	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	468						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537000													20	63					0	0	0.002299	0	0
TKTL2	84076	broad.mit.edu	37	4	164393819	164393819	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:164393819C>T	ENST00000280605.3	-	1	1228	c.1068G>A	c.(1066-1068)agG>agA	p.R356R		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	356						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGTTCTTTCCTGAATATCT	0.438000													33	71					0	0	0.002096	0	0
KRT39	390792	broad.mit.edu	37	17	39122818	39122818	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39122818C>T	ENST00000355612.2	-	1	326	c.291G>A	c.(289-291)aaG>aaA	p.K97K	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	97	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCATGGTCTCCTTCTCATTAC	0.458000													68	182					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	21997449	21997449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21997449G>A	ENST00000261200.4	-	26	3282	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1059C|ABCC9_ENST00000261201.4_Missense_Mutation_p.R1095C	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1095	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTGAAAAGCGATTGAGAATC	0.353000													77	125					0	0	0.003610	0	0
DDHD1	80821	broad.mit.edu	37	14	53513665	53513665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:53513665C>T	ENST00000357758.3	-	12	2623	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	DDHD1_ENST00000395606.1_Missense_Mutation_p.E821K|DDHD1_ENST00000323669.5_Missense_Mutation_p.E842K	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	842	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGATCCAACTCCACTAAAAAG	0.363000													8	14					0	0	0.004482	0	0
CPD	1362	broad.mit.edu	37	17	28750031	28750031	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:28750031C>T	ENST00000225719.4	+	5	1723	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	CPD_ENST00000543464.2_Silent_p.V302V	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	549	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATCCGGGTGTCCATGAACCAG	0.398000													10	24					0	0	0.006214	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997226	82997226	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:82997226G>A	ENST00000307792.3	-	17	2471	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	SEMA3E_ENST00000427262.1_Silent_p.I608I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	668	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCCAAGGTGATTTTACGGA	0.468000													32	55					0	0	0.002096	0	0
PTPRC	5788	broad.mit.edu	37	1	198719641	198719641	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:198719641G>A	ENST00000367376.2	+	29	3258	c.3087G>A	c.(3085-3087)gtG>gtA	p.V1029V	PTPRC_ENST00000594404.1_Silent_p.V868V|PTPRC_ENST00000352140.3_Silent_p.V981V|PTPRC_ENST00000442510.2_Silent_p.V1031V|PTPRC_ENST00000348564.6_Silent_p.V870V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1029	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTGAAGTGATGATTGCTG	0.398000													32	127					0	0	0.003271	0	0
PTRHD1	391356	broad.mit.edu	37	2	25016031	25016031	+	Silent	SNP	G	G	A	rs140873087		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:25016031G>A	ENST00000328379.4	-	1	220	c.216C>T	c.(214-216)ctC>ctT	p.L72L	CENPO_ENST00000380834.2_5'UTR|CENPO_ENST00000473706.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	72					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						CCAGCTCTTGGAGGTAAGCGG	0.687000													22	34					0	0	0.002299	0	0
EIF2D	1939	broad.mit.edu	37	1	206769134	206769134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206769134G>A	ENST00000271764.2	-	13	1650	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	EIF2D_ENST00000367114.3_Missense_Mutation_p.P357L|EIF2D_ENST00000472709.2_5'UTR	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	481					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCACAATGGGCTCTTGTCC	0.408000													40	141					0	0	0.006999	0	0
NDST4	64579	broad.mit.edu	37	4	115858593	115858593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:115858593G>A	ENST00000264363.2	-	5	1966	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	430	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGCTGAATGTGAACCGGGTAG	0.488000													34	62					0	0	0.003271	0	0
DOCK3	1795	broad.mit.edu	37	3	51418498	51418498	+	Silent	SNP	C	C	T	rs35115622		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:51418498C>T	ENST00000266037.9	+	53	5624	c.5601C>T	c.(5599-5601)atC>atT	p.I1867I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1867						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCACCCTATCCCAGCCTCCC	0.602000													41	98					0	0	0.003610	0	0
MRC2	9902	broad.mit.edu	37	17	60757634	60757634	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:60757634A>C	ENST00000303375.5	+	15	2804	c.2402A>C	c.(2401-2403)gAc>gCc	p.D801A		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	801	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ATGCAGTGCGACACACAGCTG	0.657000													12	27					0	0	0.001368	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	C	T	rs138398778		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:108117798C>T	ENST00000278616.4	+	8	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_ENST00000452508.2_Missense_Mutation_p.R337C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R337C(3)|p.R337S(2)|p.F336_A340del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			17	18					0	0	0.007413	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658435	33658435	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:33658435C>T	ENST00000504830.1	-	7	1379	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	ADAMTS12_ENST00000352040.3_Silent_p.K348K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	348	Peptidase M12B.				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						CACAGATGTCCTTTCTGAAAG	0.463000										HNSCC(64;0.19)			46	116					0	0	0.003610	0	0
EHD1	10938	broad.mit.edu	37	11	64627595	64627595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64627595G>A	ENST00000320631.3	-	3	970	c.716C>T	c.(715-717)tCc>tTc	p.S239F	EHD1_ENST00000359393.2_Missense_Mutation_p.S239F	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	239					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTTGCCCAGGGACCACATGAG	0.602000													11	35					0	0	0.002450	0	0
TLR10	81793	broad.mit.edu	37	4	38775969	38775969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38775969C>T	ENST00000308973.4	-	4	1848	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	TLR10_ENST00000508334.1_Missense_Mutation_p.E415K|TLR10_ENST00000361424.2_Missense_Mutation_p.E415K|TLR10_ENST00000506111.1_Missense_Mutation_p.E415K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	415					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAGCAATTTTCATCATTTTTA	0.353000													25	74					0	0	0.003330	0	0
TRMT1L	81627	broad.mit.edu	37	1	185125639	185125639	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:185125639A>T	ENST00000367506.5	-	1	474	c.206T>A	c.(205-207)cTa>cAa	p.L69Q	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	69						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ggcagaggctagggacgggga	0.667000													13	35					0	0	0.001368	0	0
ANK1	286	broad.mit.edu	37	8	41550298	41550298	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:41550298G>A	ENST00000396942.1	-	31	3809	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	ANK1_ENST00000347528.4_Silent_p.F1242F|ANK1_ENST00000379758.2_Silent_p.F1242F|ANK1_ENST00000289734.7_Silent_p.F1242F|ANK1_ENST00000265709.8_Silent_p.F1283F|ANK1_ENST00000396945.1_Silent_p.F1242F|ANK1_ENST00000352337.4_Silent_p.F1242F			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1242					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAAGATGACGAATTTGGCCA	0.537000													83	207					0	0	0.003610	0	0
KIAA0196	9897	broad.mit.edu	37	8	126073378	126073378	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:126073378A>G	ENST00000318410.7	-	12	1816	c.1467T>C	c.(1465-1467)gaT>gaC	p.D489D	KIAA0196_ENST00000517845.1_Silent_p.D341D	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	489					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTAGAATCATCATAATTTA	0.348000													17	38					0	0	0.007413	0	0
UPP1	7378	broad.mit.edu	37	7	48146552	48146552	+	Silent	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:48146552G>T	ENST00000331803.4	+	8	1142	c.519G>T	c.(517-519)ggG>ggT	p.G173G	UPP1_ENST00000395564.4_Silent_p.G173G|UPP1_ENST00000341253.4_Silent_p.G173G|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Silent_p.G36G			Q16831	UPP1_HUMAN	uridine phosphorylase 1	173					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TTGTCCTGGGGAAGCGGGTCA	0.547000													48	97					3.21987e-24	6.72297e-24	0.003610	1	0
TDRD6	221400	broad.mit.edu	37	6	46656732	46656732	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46656732T>C	ENST00000544460.1	+	1	1121	c.867T>C	c.(865-867)ggT>ggC	p.G289G	TDRD6_ENST00000316081.6_Silent_p.G289G	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	289					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATACCGGGGTTCCACGGGGA	0.637000													10	33					0	0	0.008291	0	0
CLASP2	23122	broad.mit.edu	37	3	33686776	33686776	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:33686776T>C	ENST00000539981.1	-	1	31	c.32A>G	c.(31-33)gAt>gGt	p.D11G	CLASP2_ENST00000461133.3_Intron|CLASP2_ENST00000487200.1_Missense_Mutation_p.D11G|CLASP2_ENST00000480013.1_Intron|CLASP2_ENST00000313350.6_Missense_Mutation_p.D11G|CLASP2_ENST00000359576.5_Intron|CLASP2_ENST00000307312.7_Intron|CLASP2_ENST00000468888.2_Intron|CLASP2_ENST00000399362.4_Intron|CLASP2_ENST00000482896.1_Intron			B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	238										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACTTACAATCACAGATCCG	0.448000													60	142					0	0	0.003610	0	0
BRINP2	57795	broad.mit.edu	37	1	177250346	177250346	+	Missense_Mutation	SNP	G	G	A	rs149846085		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:177250346G>A	ENST00000361539.4	+	8	2346	c.2034G>A	c.(2032-2034)atG>atA	p.M678I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		678						extracellular region		p.M678I(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGGTTACATGAAAATTAACA	0.473000													36	104					0	0	0.004289	0	0
CACNA1E	777	broad.mit.edu	37	1	181727103	181727103	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181727103C>T	ENST00000526775.1	+	30	4458	c.4293C>T	c.(4291-4293)gcC>gcT	p.A1431A	CACNA1E_ENST00000360108.3_Silent_p.A1431A|CACNA1E_ENST00000357570.5_Silent_p.A1401A|CACNA1E_ENST00000367567.4_Silent_p.A1057A|CACNA1E_ENST00000358338.5_Silent_p.A1382A|CACNA1E_ENST00000367570.1_Silent_p.A1450A|CACNA1E_ENST00000367573.2_Silent_p.A1450A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1450					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGACTTCGCCATCAGCGCCA	0.522000													43	139					0	0	0.003610	0	0
AMER3	205147	broad.mit.edu	37	2	131521402	131521402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:131521402G>A	ENST00000423981.1	+	2	1867	c.1757G>A	c.(1756-1758)gGa>gAa	p.G586E	AMER3_ENST00000321420.4_Missense_Mutation_p.G586E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		AAGGCCCTCGGAGGGGCCACA	0.637000													22	47					0	0	0.002299	0	0
DPEP3	64180	broad.mit.edu	37	16	68014033	68014033	+	Missense_Mutation	SNP	G	G	C	rs150317704		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:68014033G>C	ENST00000268793.4	-	1	699	c.326C>G	c.(325-327)gCg>gGg	p.A109G	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	84					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CAGGGCCTGCGCGCGACCCCG	0.667000													23	52					0	0	0.003330	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:2843503C>T	ENST00000380445.3	+	13	1326	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	VPS16_ENST00000380443.3_Silent_p.F104F|VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	418					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000													54	124					0	0	0.003610	0	0
LOXL2	4017	broad.mit.edu	37	8	23225655	23225655	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:23225655G>A	ENST00000389131.3	-	2	579	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	70	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCCACCCGGCCCTCGCTGT	0.657000													24	64					0	0	0.004656	0	0
EPX	8288	broad.mit.edu	37	17	56272381	56272381	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56272381C>T	ENST00000225371.5	+	6	761	c.651C>T	c.(649-651)gaC>gaT	p.D217D		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	217					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGACCTCCGACCGTGGCCGAG	0.617000													11	30					0	0	0.000978	0	0
KRT10	3858	broad.mit.edu	37	17	38978755	38978755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:38978755C>T	ENST00000269576.5	-	1	92	c.83G>A	c.(82-84)gGa>gAa	p.G28E	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	28	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis	p.G28V(1)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CActcctcctcctcctccaca	0.552000													12	29					0	0	0.000978	0	0
SLC6A13	6540	broad.mit.edu	37	12	352844	352844	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:352844C>T	ENST00000343164.4	-	3	390		c.e3+1		SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCTACTCACCCTCAAAGAT	0.488000													20	38					0	0	0.003330	0	0
FMNL3	91010	broad.mit.edu	37	12	50050217	50050217	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:50050217G>A	ENST00000335154.5	-	9	1088	c.855C>T	c.(853-855)atC>atT	p.I285I	FMNL3_ENST00000352151.5_Silent_p.I234I|FMNL3_ENST00000293590.5_Silent_p.I285I|FMNL3_ENST00000550488.1_Silent_p.I285I	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	285	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGCAAGGATGATTTCGTGAC	0.507000													11	25					0	0	0.001368	0	0
NOTCH3	4854	broad.mit.edu	37	19	15300169	15300169	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15300169A>G	ENST00000263388.2	-	7	1182	c.1107T>C	c.(1105-1107)aaT>aaC	p.N369N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	369	EGF-like 9.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTTCACCGGATTTGTGTCAC	0.597000													40	79					0	0	0.006230	0	0
TMEM186	25880	broad.mit.edu	37	16	8890250	8890250	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:8890250G>A	ENST00000333050.6	-	2	234	c.201C>T	c.(199-201)acC>acT	p.T67T	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	67						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGAACCCGAAGGTTCTGATGG	0.517000													48	69					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704202	117704202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:117704202C>T	ENST00000355044.3	+	29	4178	c.4052C>T	c.(4051-4053)tCa>tTa	p.S1351L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.S402L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.S144L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1351						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATAGATATTTCACAACAGAAA	0.423000													18	34					0	0	0.004990	0	0
PRAME	23532	broad.mit.edu	37	22	22890689	22890689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:22890689G>A	ENST00000543184.1	-	5	2192	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PRAME_ENST00000539862.1_Missense_Mutation_p.P428S|PRAME_ENST00000398743.2_Missense_Mutation_p.P444S|PRAME_ENST00000424204.2_Missense_Mutation_p.P428S|PRAME_ENST00000402697.1_Missense_Mutation_p.P444S|PRAME_ENST00000398741.1_Missense_Mutation_p.P444S|PRAME_ENST00000405655.3_Missense_Mutation_p.P444S	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	444	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTCTCCAGGGGGACAGGATAC	0.567000													26	71					0	0	0.004656	0	0
IL7	3574	broad.mit.edu	37	8	79652309	79652309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:79652309C>T	ENST00000263851.4	-	3	756	c.156G>A	c.(154-156)atG>atA	p.M52I	IL7_ENST00000541183.1_Start_Codon_SNP_p.M1I|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000520269.1_Missense_Mutation_p.M52I	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	52					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CAATTTCTTTCATGCTGTCCT	0.229000													14	25					0	0	0.004007	0	0
DCDC2	51473	broad.mit.edu	37	6	24289098	24289098	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24289098G>A	ENST00000378454.3	-	6	1042	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	247					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TAGACTTTCTGGATCCTACAA	0.338000													16	39					0	0	0.006122	0	0
CDS2	8760	broad.mit.edu	37	20	5165588	5165588	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:5165588C>T	ENST00000460006.1	+	8	1063	c.756C>T	c.(754-756)atC>atT	p.I252I	CDS2_ENST00000535100.1_Silent_p.I73I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Silent_p.I132I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	252					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCCCACTCATCAAGGTAAATG	0.438000													56	96					0	0	0.003610	0	0
USP50	373509	broad.mit.edu	37	15	50833252	50833252	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50833252G>A	ENST00000532404.1	-	4	827	c.654C>T	c.(652-654)tcC>tcT	p.S218S	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	218					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CTACCCGAAGGGAGCATTCAT	0.433000													11	27					0	0	0.001368	0	0
GRHL3	57822	broad.mit.edu	37	1	24658072	24658072	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:24658072G>A	ENST00000361548.4	+	2	404	c.174G>A	c.(172-174)gcG>gcA	p.A58A	GRHL3_ENST00000236255.4_Silent_p.A63A|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Silent_p.A12A|GRHL3_ENST00000350501.5_Silent_p.A58A	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	58	Transcription activation.				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAGTGTTGCGGCCTTGAGCT	0.512000													27	49					0	0	0.001786	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341870	79341870	+	Missense_Mutation	SNP	C	C	T	rs150981409	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:79341870C>T	ENST00000419573.3	-	4	866	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D198N|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	198					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTTCATCGTTGGGGGCG	0.557000													11	56					0	0	0.000978	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296611	28296611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:28296611G>A	ENST00000284987.5	-	8	2675	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	852	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACTTCTTGGGAACAAAAAAG	0.483000													49	84					0	0	0.003610	0	0
OR12D2	26529	broad.mit.edu	37	6	29364748	29364748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:29364748C>T	ENST00000383555.2	+	1	333	c.272C>T	c.(271-273)tCt>tTt	p.S91F	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AAAGCAATTTCTTTCTTGGGA	0.473000													25	81					0	0	0.004656	0	0
CNTN5	53942	broad.mit.edu	37	11	99941237	99941237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99941237G>A	ENST00000524871.1	+	11	1534	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G415E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G341E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G415E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G415E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	415	Ig-like C2-type 4.				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)		AAGGCTACTGGAAAACCCAGA	0.473000													14	11					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179582292	179582292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179582292G>A	ENST00000589042.1	-	87	25533	c.25309C>T	c.(25309-25311)Cct>Tct	p.P8437S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8120S|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7193S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8120	Ig-like 67.						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)			GTCCCAAGAGGATTAGAAGCA	0.443000													13	22					0	0	0.002450	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633847	70633847	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:70633847C>T	ENST00000381269.2	-	2	2046	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	SLC8A3_ENST00000356921.2_Silent_p.V431V|SLC8A3_ENST00000357887.3_Silent_p.V431V|SLC8A3_ENST00000534137.1_Silent_p.V431V|SLC8A3_ENST00000528359.1_Silent_p.V431V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	431	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTTTGTAGTCCACATACATGG	0.517000													39	96					0	0	0.004289	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250551	140250551	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140250551C>T	ENST00000398640.2	+	1	1863	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.647000													25	26					0	0	0.006320	0	0
HAUS3	79441	broad.mit.edu	37	4	2241913	2241913	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:2241913A>C	ENST00000243706.4	-	2	990	c.761T>G	c.(760-762)aTc>aGc	p.I254S	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.I254S|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.I254S	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	254					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCTCAAGGATTTCTTGATT	0.363000													17	46					0	0	0.006122	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261767	23261767	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23261767A>G	ENST00000450802.3	+	12	977	c.879A>G	c.(877-879)gaA>gaG	p.E293E																								TCTCAGCTGAACCCTTGCCCC	0.577000													22	64					0	0	0.004656	0	0
OR4M2	390538	broad.mit.edu	37	15	22369242	22369242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22369242G>A	ENST00000332663.2	+	1	765	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCCTTCTGGCCTTGTTCAA	0.473000													57	235					0	0	0.003610	0	0
TNK2	10188	broad.mit.edu	37	3	195599249	195599249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:195599249G>A	ENST00000333602.6	-	10	1966	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	TNK2_ENST00000428187.1_Missense_Mutation_p.S482L|TNK2_ENST00000392400.1_Missense_Mutation_p.S450L|TNK2_ENST00000381916.2_Missense_Mutation_p.S513L|TNK2_ENST00000316664.3_Missense_Mutation_p.S450L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	450				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S450L(1)|p.S513L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCTGGGCCGACAGGCCGGC	0.667000													21	74					0	0	0.001882	0	0
USH2A	7399	broad.mit.edu	37	1	216040460	216040460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216040460G>A	ENST00000366943.2	-	44	9120	c.8734C>T	c.(8734-8736)Ccg>Tcg	p.P2912S	USH2A_ENST00000307340.3_Missense_Mutation_p.P2912S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2912	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTCGGCTCGGTGTAAAACCC	0.423000										HNSCC(13;0.011)			29	81					0	0	0.007291	0	0
PCLO	27445	broad.mit.edu	37	7	82584101	82584101	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:82584101C>T	ENST00000423517.2	-	5	6505	c.6168G>A	c.(6166-6168)agG>agA	p.R2056R	PCLO_ENST00000333891.8_Silent_p.R2056R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1987					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGTAGTTTCCTTTCTTCTT	0.448000													15	50					0	0	0.002450	0	0
GHSR	2693	broad.mit.edu	37	3	172163170	172163170	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:172163170G>A	ENST00000241256.2	-	2	924	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	294					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAATCTCCAAGGAGCCAGGCT	0.493000													27	56					0	0	0.004656	0	0
PADI3	51702	broad.mit.edu	37	1	17597374	17597374	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:17597374G>A	ENST00000375460.3	+	8	872	c.831_splice	c.e8-1	p.D278_splice		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	278					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCCCTGCAGGATTTCTCGGC	0.577000													22	30					0	0	0.001882	0	0
ZNF407	55628	broad.mit.edu	37	18	72344075	72344075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:72344075C>T	ENST00000299687.5	+	1	1100	c.1100C>T	c.(1099-1101)aCt>aTt	p.T367I	ZNF407_ENST00000577538.1_Missense_Mutation_p.T367I|ZNF407_ENST00000582337.1_Missense_Mutation_p.T367I|ZNF407_ENST00000309902.6_Missense_Mutation_p.T367I	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAACATGTTACTTCCCTTGGT	0.383000													38	68					0	0	0.007835	0	0
GPLD1	2822	broad.mit.edu	37	6	24480149	24480149	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24480149G>A	ENST00000230036.1	-	3	302	c.192C>T	c.(190-192)atC>atT	p.I64I	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	64						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CAGGAAACACGATTCCAGCCT	0.438000													28	110					0	0	0.007291	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152561	50152561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50152561C>T	ENST00000284509.6	-	28	3550	c.3409G>A	c.(3409-3411)Ggc>Agc	p.G1137S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G1137S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1137					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTCCATAGCCTTCTTGGTGA	0.488000													41	87					0	0	0.007835	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540295	96540295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96540295C>T	ENST00000371321.3	+	4	603	c.521C>T	c.(520-522)cCc>cTc	p.P174L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	174					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCTGTGCTCCCTGCAATGTG	0.333000													63	123					0	0	0.003610	0	0
TRIM10	10107	broad.mit.edu	37	6	30128312	30128312	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30128312G>A	ENST00000449742.2	-	1	399	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TRIM10_ENST00000376704.3_Silent_p.F108F	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	108						cytoplasm	zinc ion binding			ovary(1)	1						CCTCACAGAAGAAGTAGATCT	0.587000													34	96					0	0	0.004878	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703436	33703436	+	Silent	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:33703436A>C	ENST00000253188.3	-	4	764	c.618T>G	c.(616-618)ctT>ctG	p.L206L		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	206					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGATCTGGAGAAGGCCCACGC	0.642000													27	19					0	0	0.007291	0	0
TALDO1	6888	broad.mit.edu	37	11	764378	764378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:764378C>T	ENST00000319006.3	+	7	1079	c.926C>T	c.(925-927)tCt>tTt	p.S309F	TALDO1_ENST00000528097.1_Silent_p.L308L|TALDO1_ENST00000532202.1_3'UTR			P37837	TALDO_HUMAN	transaldolase 1	309					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAGAAGCTCTCTGACGGGATC	0.542000													8	31					0	0	0.003080	0	0
TGM3	7053	broad.mit.edu	37	20	2312663	2312663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:2312663G>A	ENST00000381458.5	+	10	1412	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	450					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GACCAGGAAAGACAAGTGTTC	0.537000													27	72					0	0	0.008361	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666165	133666165	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:133666165G>A	ENST00000310926.4	-	9	1503	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLCO2A1_ENST00000493729.1_Silent_p.I334I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	410					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAACACAAAGGATCATGGAGA	0.498000													27	57					0	0	0.002836	0	0
CMYA5	202333	broad.mit.edu	37	5	79029209	79029209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:79029209G>A	ENST00000446378.2	+	2	4652	c.4621G>A	c.(4621-4623)Gaa>Aaa	p.E1541K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1541						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGAAGAAAGAAACTGAACT	0.423000													29	71					0	0	0.005443	0	0
USH2A	7399	broad.mit.edu	37	1	216420241	216420241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216420241C>T	ENST00000366943.2	-	13	2881	c.2495G>A	c.(2494-2496)gGa>gAa	p.G832E	USH2A_ENST00000366942.3_Missense_Mutation_p.G832E|USH2A_ENST00000307340.3_Missense_Mutation_p.G832E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	832	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAGAAGTTTCCCTCCAAACA	0.458000										HNSCC(13;0.011)			30	97					0	0	0.001786	0	0
OR2T8	343172	broad.mit.edu	37	1	248085233	248085233	+	Missense_Mutation	SNP	G	G	A	rs145320774		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248085233G>A	ENST00000319968.4	+	1	914	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	305			R -> W (in dbSNP:rs6695357).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTATGGGTCGGTGTGTGGCC	0.428000													37	85					0	0	0.006230	0	0
NID1	4811	broad.mit.edu	37	1	236176752	236176752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:236176752G>A	ENST00000264187.6	-	11	2445	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	788	EGF-like 4.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGGCAAGCAGGAACAGGTGTA	0.552000													21	41					0	0	0.002299	0	0
LRRC7	57554	broad.mit.edu	37	1	70460244	70460244	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:70460244G>A	ENST00000310961.5	+	12	1251	c.832_splice	c.e12-1	p.G278_splice	LRRC7_ENST00000035383.5_Splice_Site_p.G273_splice|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	273						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTGCTTTAGGACTTTTGAAA	0.338000													33	94					0	0	0.001786	0	0
ACSM2A	123876	broad.mit.edu	37	16	20481027	20481027	+	Silent	SNP	C	C	T	rs145878643		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:20481027C>T	ENST00000573854.1	+	4	696	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ACSM2A_ENST00000417235.2_Silent_p.F115F|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Silent_p.F194F|ACSM2A_ENST00000424070.1_Silent_p.F194F|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Silent_p.F194F|ACSM2A_ENST00000396104.2_Silent_p.F194F	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	194					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGAACTTCAAGAAACTAC	0.438000													67	133					0	0	0.003610	0	0
IGHG2	3501	broad.mit.edu	37	14	106109684	106109684	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:106109684G>A	ENST00000390545.2	-	0	836																											AGGAGCCGTCGGAGTCCAGCA	0.587000													69	276					0	0	0.003610	0	0
OR2T1	26696	broad.mit.edu	37	1	248570069	248570069	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248570069G>A	ENST00000366474.1	+	1	774	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGCTGCTGATTCCTTTCT	0.507000													26	58					0	0	0.003330	0	0
TRIM26	7726	broad.mit.edu	37	6	30166830	30166830	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30166830G>A	ENST00000454678.2	-	4	487	c.51C>T	c.(49-51)tcC>tcT	p.S17S	TRIM26_ENST00000437089.1_Silent_p.S17S|TRIM26_ENST00000487829.1_Intron|TRIM26_ENST00000453195.1_Silent_p.S17S	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	17							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CAAGACAGATGGAGCAGGTCA	0.597000													10	48					0	0	0.001368	0	0
CCDC42	146849	broad.mit.edu	37	17	8638875	8638875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:8638875G>A	ENST00000293845.3	-	5	773	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	183				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATGAGGTCGTGGCGCATGCTC	0.607000													19	15					0	0	0.006122	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341893	79341893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:79341893G>A	ENST00000419573.3	-	4	843	c.569C>T	c.(568-570)tCc>tTc	p.S190F	RASGRF1_ENST00000558480.2_Missense_Mutation_p.S190F|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	190					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCTGGGTGGACTGGATGCG	0.552000													12	55					0	0	0.001855	0	0
DNAH17	8632	broad.mit.edu	37	17	76481835	76481835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:76481835G>A	ENST00000389840.5	-	47	7362	c.7238C>T	c.(7237-7239)tCt>tTt	p.S2413F	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.S2422F|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGACCAAAGAGGCCTGGGG	0.612000													19	51					0	0	0.002780	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604695	62604695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:62604695C>T	ENST00000281156.4	-	6	933	c.655G>A	c.(655-657)Ggt>Agt	p.G219S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	219	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGAGAACACCTCGTCCAGGT	0.592000													25	44					0	0	0.006320	0	0
SI	6476	broad.mit.edu	37	3	164748583	164748583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:164748583C>T	ENST00000264382.3	-	25	2871	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	937	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTTCATTTTCTGAGAAAATT	0.313000										HNSCC(35;0.089)			37	88					0	0	0.004289	0	0
ELF3	1999	broad.mit.edu	37	1	201980352	201980352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:201980352C>T	ENST00000359651.3	+	1	3280	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	ELF3_ENST00000367283.3_Missense_Mutation_p.P30S|ELF3_ENST00000367284.5_Missense_Mutation_p.P30S|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	30					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P30S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCTCTGTTCCCCCTGCTGC	0.572000													28	120					0	0	0.001786	0	0
PDE2A	5138	broad.mit.edu	37	11	72296629	72296629	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:72296629G>A	ENST00000334456.5	-	15	1436	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PDE2A_ENST00000544570.1_Silent_p.L390L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Silent_p.L141L|PDE2A_ENST00000540345.1_Silent_p.L388L|PDE2A_ENST00000418754.2_Silent_p.L282L|PDE2A_ENST00000444035.2_Silent_p.L388L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	397					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTGCCACTTGGAGAAGAGCCT	0.592000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	214					0	0	0.003610	0	0
SHANK3	85358	broad.mit.edu	37	22	51160790	51160790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:51160790C>T	ENST00000414786.2	+	21	4714	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SHANK3_ENST00000445220.2_Missense_Mutation_p.S1512F|SHANK3_ENST00000262795.3_Missense_Mutation_p.S1526F			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1526										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACACGCGTTCCCTGGGGGAG	0.667000													22	36					0	0	0.003330	0	0
PLCG2	5336	broad.mit.edu	37	16	81942134	81942134	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81942134G>A	ENST00000359376.3	+	17	1885	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	557	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGGGGGGCAAGGATGGCACCT	0.557000													14	35					0	0	0.003163	0	0
OR2T33	391195	broad.mit.edu	37	1	248436937	248436937	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248436937G>A	ENST00000318021.2	-	1	201	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTGGCTCAGGAGGAAGTACA	0.537000													44	104					0	0	0.003610	0	0
APBA3	9546	broad.mit.edu	37	19	3752968	3752968	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:3752968G>A	ENST00000316757.3	-	7	1232	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	344	PID.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCCAATGGCCTGGGCGA	0.701000													14	55					0	0	0.004007	0	0
ABCA6	23460	broad.mit.edu	37	17	67114069	67114069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67114069C>T	ENST00000284425.2	-	11	1639	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	489	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCAGATTTTCCTTTATATTCC	0.313000													18	64					0	0	0.007413	0	0
SNAP91	9892	broad.mit.edu	37	6	84311139	84311139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:84311139G>A	ENST00000428679.2	-	16	1768	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	SNAP91_ENST00000195649.6_Missense_Mutation_p.S392F|SNAP91_ENST00000520302.1_Missense_Mutation_p.S390F|SNAP91_ENST00000369694.2_Missense_Mutation_p.S392F|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S392F|SNAP91_ENST00000521743.1_Missense_Mutation_p.S392F|SNAP91_ENST00000439399.2_Missense_Mutation_p.S392F|SNAP91_ENST00000520213.1_Intron			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	392	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGAACAGAGGAAAGTGCAGC	0.443000													15	16					0	0	0.003163	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052903	13052903	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:13052903G>A	ENST00000399002.2	+	3	577		c.e3-1		SPTLC3_ENST00000378194.4_Splice_Site	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3						sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGTTCTAACAGGATTTTGTGC	0.423000													47	130					0	0	0.003610	0	0
TCF4	6925	broad.mit.edu	37	18	53128276	53128276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:53128276G>A	ENST00000354452.3	-	5	889	c.278C>T	c.(277-279)cCa>cTa	p.P93L	TCF4_ENST00000567880.1_Missense_Mutation_p.P93L|TCF4_ENST00000356073.4_Missense_Mutation_p.P93L|TCF4_ENST00000543082.1_Missense_Mutation_p.P51L|TCF4_ENST00000537578.1_Missense_Mutation_p.P69L|TCF4_ENST00000540999.1_Missense_Mutation_p.P69L|TCF4_ENST00000568740.1_Missense_Mutation_p.P69L|TCF4_ENST00000568673.1_Missense_Mutation_p.P69L|TCF4_ENST00000566286.1_Missense_Mutation_p.P91L|TCF4_ENST00000398339.1_Missense_Mutation_p.P195L|TCF4_ENST00000564403.2_Missense_Mutation_p.P93L|TCF4_ENST00000564999.1_Missense_Mutation_p.P93L|TCF4_ENST00000565018.2_Missense_Mutation_p.P93L|TCF4_ENST00000566279.1_Missense_Mutation_p.P93L|RP11-619L19.1_ENST00000587660.1_RNA	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	93					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GACAAAAGGTGGAGAGAGATT	0.368000													17	29					0	0	0.004990	0	0
MASP1	5648	broad.mit.edu	37	3	186961301	186961301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:186961301G>A	ENST00000337774.5	-	9	1588	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	MASP1_ENST00000296280.6_Missense_Mutation_p.P400L|MASP1_ENST00000392472.2_Missense_Mutation_p.P287L|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	400	Sushi 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTGTAATAGGGCTCCTGACA	0.527000													27	67					0	0	0.006320	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433561	73433561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:73433561C>T	ENST00000263666.4	-	10	2270	c.2156G>A	c.(2155-2157)tGg>tAg	p.W719*	PDZRN3_ENST00000462146.2_Nonsense_Mutation_p.W376*|PDZRN3_ENST00000479530.1_Nonsense_Mutation_p.W436*|PDZRN3_ENST00000466780.1_Nonsense_Mutation_p.W376*|PDZRN3_ENST00000535920.1_Nonsense_Mutation_p.W441*	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	719							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGCAGCATCCAGGACTCGCG	0.597000													14	31					0	0	0.003163	0	0
SLIT2	9353	broad.mit.edu	37	4	20493392	20493392	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:20493392T>C	ENST00000504154.1	+	9	1036	c.784T>C	c.(784-786)Tca>Cca	p.S262P	SLIT2_ENST00000503823.1_Missense_Mutation_p.S262P|SLIT2_ENST00000503837.1_Missense_Mutation_p.S266P|SLIT2_ENST00000273739.5_Missense_Mutation_p.S266P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	262					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGTCACCAGTCATTTATGGC	0.403000													36	86					0	0	0.003610	0	0
PRB2	653247	broad.mit.edu	37	12	11546770	11546770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:11546770G>A	ENST00000389362.4	-	3	277	c.242C>T	c.(241-243)cCa>cTa	p.P81L	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGGGGTGGTCCTTGTGG	0.612000													62	209					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38917234	38917234	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38917234C>A	ENST00000359357.3	+	79	11739	c.11485C>A	c.(11485-11487)Cgt>Agt	p.R3829S	DNAH8_ENST00000441566.1_Missense_Mutation_p.R3793S|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4046S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAGATATCTCGTAATGAGAA	0.378000													7	285					0.00198382	0.00406683	0.001984	1	0
ALK	238	broad.mit.edu	37	2	29430064	29430064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:29430064C>T	ENST00000389048.3	-	26	4817	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1304	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTGAATATTCCTTCCATGAA	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				24	58					0	0	0.005443	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915979	86915979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:86915979C>T	ENST00000395184.1	+	9	1638	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.S296F|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.S298F	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	391					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACAATGGATCCCCCACAGCT	0.498000													59	115					0	0	0.003610	0	0
DTX3	196403	broad.mit.edu	37	12	58000659	58000659	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:58000659C>T	ENST00000548198.1	+	3	1517	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	DTX3_ENST00000548804.1_Silent_p.L5L|DTX3_ENST00000551632.1_Intron|DTX3_ENST00000337737.3_Silent_p.L5L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	5					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTCGTTCGTCCTGTCCAGAAT	0.587000													67	53					0	0	0.003610	0	0
ADCY6	112	broad.mit.edu	37	12	49167277	49167277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49167277C>T	ENST00000307885.4	-	15	3290	c.2596G>A	c.(2596-2598)Gac>Aac	p.D866N	ADCY6_ENST00000357869.3_Missense_Mutation_p.D813N|ADCY6_ENST00000550422.1_Missense_Mutation_p.D813N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	866					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCAGTAGGTCATAGTTGTCA	0.517000													9	28					0	0	0.006214	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:103338393G>A	ENST00000424685.2	-	10	1209	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_ENST00000428762.1_Silent_p.I350I|RELN_ENST00000343529.5_Silent_p.I350I			P78509	RELN_HUMAN	reelin	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000													35	75					0	0	0.003755	0	0
IQSEC2	23096	broad.mit.edu	37	X	53267476	53267476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:53267476C>T	ENST00000396435.3	-	12	3328	c.3128G>A	c.(3127-3129)gGg>gAg	p.G1043E	IQSEC2_ENST00000375368.5_Missense_Mutation_p.G1033E|IQSEC2_ENST00000375365.2_Missense_Mutation_p.G838E	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1033	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CAACTTGATCCCAAACTGGTA	0.502000													23	11					0	0	0.007291	0	0
LRP4	4038	broad.mit.edu	37	11	46911083	46911083	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:46911083C>A	ENST00000378623.1	-	16	2336	c.2092_splice	c.e16-1	p.G698_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	698	EGF-like 3.				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)		AGCGGTTTTTCCCTGCTCAAA	0.567000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	51					3.70037e-05	7.61047e-05	0.001786	1	0
TGIF1	7050	broad.mit.edu	37	18	3452062	3452062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:3452062C>T	ENST00000330513.5	+	1	388	c.85C>T	c.(85-87)Cca>Tca	p.P29S	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000401449.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	29					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGATTCCTTTCCATGGCCCGC	0.672000													38	83					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31324212	31324212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:31324212G>A	ENST00000269197.5	+	12	4400	c.4400G>A	c.(4399-4401)cGa>cAa	p.R1467Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCATAAACCGATCAATTCCG	0.512000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	77					0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57480852	57480852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57480852G>A	ENST00000371236.2	-	12	1411	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	DAB1_ENST00000414851.2_Missense_Mutation_p.P365L|DAB1_ENST00000439789.2_Missense_Mutation_p.P297L|DAB1_ENST00000420954.2_Missense_Mutation_p.P381L|DAB1_ENST00000371231.1_Missense_Mutation_p.P416L|DAB1_ENST00000371234.4_Missense_Mutation_p.P383L|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	416					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGGTGAGGGGACCTTGGAA	0.592000													31	70					0	0	0.002445	0	0
DTL	51514	broad.mit.edu	37	1	212273810	212273810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:212273810C>T	ENST00000366991.4	+	14	1792	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P451L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	493					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTCCCAAGCCACCTTCATCT	0.507000													26	83					0	0	0.003330	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596459	24596459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24596459C>T	ENST00000535378.1	-	4	1058	c.416G>A	c.(415-417)tGg>tAg	p.W139*	KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.W148*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.W148*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.W103*|KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.W148*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	148					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCTAGGCCCCAATCTTTGCC	0.572000													19	77					0	0	0.002780	0	0
ALPK2	115701	broad.mit.edu	37	18	56202579	56202579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:56202579G>A	ENST00000361673.3	-	5	5053	c.4840C>T	c.(4840-4842)Cct>Tct	p.P1614S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1614							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTTCCTTCAGGAGATGAAGTA	0.438000													50	51					0	0	0.003610	0	0
NELFE	7936	broad.mit.edu	37	6	31922493	31922493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31922493C>T	ENST00000375429.3	-	7	807	c.581G>A	c.(580-582)aGg>aAg	p.R194K	NELFE_ENST00000444811.2_Missense_Mutation_p.R164K|NELFE_ENST00000375425.5_Missense_Mutation_p.R201K	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		gtcccggttcctctcATGGCT	0.647000													131	391					0	0	0.003610	0	0
GK5	256356	broad.mit.edu	37	3	141891283	141891283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:141891283G>A	ENST00000392993.2	-	13	1310	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	387					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CATGCCCAGGGGTCATTTAAT	0.353000													24	42					0	0	0.002780	0	0
MDGA1	266727	broad.mit.edu	37	6	37626190	37626190	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:37626190C>T	ENST00000434837.2	-	3	1391	c.213G>A	c.(211-213)cgG>cgA	p.R71R	MDGA1_ENST00000505425.1_Silent_p.R71R|MDGA1_ENST00000297153.7_Silent_p.R71R	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	71	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTTGGTCCACCGTACCTGGG	0.662000													33	92					0	0	0.004878	0	0
APBA3	9546	broad.mit.edu	37	19	3752969	3752969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:3752969G>A	ENST00000316757.3	-	7	1231	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	344	PID.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCAATGGCCTGGGCGAT	0.701000													14	55					0	0	0.003163	0	0
FGA	2243	broad.mit.edu	37	4	155507290	155507290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:155507290C>T	ENST00000302053.3	-	5	1369	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	FGA_ENST00000403106.3_Missense_Mutation_p.E431K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	431					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGTTTTTCTGTGTGGTAC	0.507000													70	132					0	0	0.003610	0	0
TRBV28	28559	broad.mit.edu	37	7	142428720	142428720	+	RNA	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142428720C>G	ENST00000390400.2	+	0	100																											ACCCAGAGCTCGAGATATCTA	0.448000													9	13					0	0	0.008291	0	0
GPR112	139378	broad.mit.edu	37	X	135430317	135430317	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:135430317G>A	ENST00000394143.1	+	6	4743	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	GPR112_ENST00000394141.1_Silent_p.R1279R|GPR112_ENST00000412101.1_Silent_p.R1279R|GPR112_ENST00000287534.4_Silent_p.R1421R|GPR112_ENST00000370652.1_Silent_p.R1484R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCCGACAGGATCACTACAG	0.443000													80	23					0	0	0.003610	0	0
RPL27	6155	broad.mit.edu	37	17	41152038	41152038	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:41152038T>A	ENST00000589913.1	+	2	444	c.170T>A	c.(169-171)aTg>aAg	p.M57K	RPL27_ENST00000589037.1_Missense_Mutation_p.M57K|RPL27_ENST00000590864.1_Start_Codon_SNP_p.M1K|RPL27_ENST00000253788.5_Missense_Mutation_p.M57K			P61353	RL27_HUMAN	ribosomal protein L27	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAGCTGCCATGGGCAAGAAG	0.453000													37	58					0	0	0.007835	0	0
C1orf106	55765	broad.mit.edu	37	1	200880599	200880599	+	Silent	SNP	G	G	A	rs151014082		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:200880599G>A	ENST00000367342.4	+	9	1433	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	C1orf106_ENST00000413687.2_Silent_p.A326A	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	411										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTTCCGGGCGGGTCCTGAGG	0.642000													157	168					0	0	0.003610	0	0
RAB5A	5868	broad.mit.edu	37	3	19992420	19992420	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:19992420C>T	ENST00000273047.4	+	2	566	c.30C>T	c.(28-30)aaC>aaT	p.N10N	RAB5A_ENST00000422242.1_Silent_p.N10N	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	10					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						CAAGACCCAACGGGCCAAATA	0.443000													11	63					0	0	0.001368	0	0
CENPF	1063	broad.mit.edu	37	1	214818958	214818958	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:214818958C>T	ENST00000366955.3	+	13	6213	c.6045C>T	c.(6043-6045)ctC>ctT	p.L2015L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2111					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACGGAACTCCTTCAGACTT	0.443000													28	91					0	0	0.007291	0	0
SYT9	143425	broad.mit.edu	37	11	7335104	7335104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:7335104C>T	ENST00000318881.6	+	3	1213	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	SYT9_ENST00000396716.2_Missense_Mutation_p.H294Y	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	326						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGTGGTGGATCACTTCCTAGA	0.473000													68	142					0	0	0.003610	0	0
LUZP4	51213	broad.mit.edu	37	X	114537898	114537898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:114537898G>A	ENST00000371920.3	+	3	264	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	86						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCTGAGGAAGGAAATCATGAT	0.343000													71	32					0	0	0.003610	0	0
CCDC170	80129	broad.mit.edu	37	6	151939180	151939180	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:151939180G>A	ENST00000367290.5	+	11	2156	c.2067G>A	c.(2065-2067)ttG>ttA	p.L689L	CCDC170_ENST00000239374.7_Silent_p.L682L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	682																	TTGAAAGATTGGTCCATTCAC	0.483000													35	32					0	0	0.004289	0	0
TPH1	7166	broad.mit.edu	37	11	18054890	18054890	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:18054890C>T	ENST00000250018.2	-	3	895	c.333G>A	c.(331-333)aaG>aaA	p.K111K	TPH1_ENST00000341556.2_Silent_p.K111K	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	111					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GGTCAGAAATCTTCTTTGGAA	0.318000													65	141					0	0	0.003610	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115829023C>T	ENST00000369512.2	-	3	562	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	132					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000													24	37					0	0	0.002780	0	0
OR11L1	391189	broad.mit.edu	37	1	248005015	248005015	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248005015A>G	ENST00000355784.2	-	1	239	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTGGAGGAACATGTACATA	0.547000													10	35					0	0	0.006214	0	0
TRDV1	28518	broad.mit.edu	37	14	22564827	22564827	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:22564827C>T	ENST00000390452.2	+	0	296																											GCAGCGAAATCCGTCGCCTTA	0.418000													27	45					0	0	0.004656	0	0
HNF1B	6928	broad.mit.edu	37	17	36059181	36059181	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:36059181T>C	ENST00000225893.4	-	8	1915	c.1554A>G	c.(1552-1554)gaA>gaG	p.E518E	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Silent_p.E492E|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	518					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACTGGGGGGGTTCCTGCTTGT	0.517000													147	281					0	0	0.003610	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350521	51350521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:51350521C>T	ENST00000327536.5	-	3	535	c.436G>A	c.(436-438)Gat>Aat	p.D146N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	146										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TAGAGCTCATCAAAGATCTCG	0.448000													40	109					0	0	0.006230	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539224	86539224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:86539224C>T	ENST00000450689.2	-	16	2448	c.2263G>A	c.(2263-2265)Gca>Aca	p.A755T	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A588T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A515T|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A684T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	755						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CATACAAATGCCCCTACCAAA	0.398000													37	46					0	0	0.004878	0	0
RBM11	54033	broad.mit.edu	37	21	15599315	15599315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:15599315G>A	ENST00000400577.3	+	5	556	c.547G>A	c.(547-549)Gga>Aga	p.G183R	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	183							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCTTGAGGCTGGACCCAGCTC	0.458000													99	197					0	0	0.003610	0	0
AMPD3	272	broad.mit.edu	37	11	10517123	10517123	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:10517123G>T	ENST00000444303.2	+	8	1268	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	AMPD3_ENST00000396554.3_Missense_Mutation_p.A434S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	425					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCAGGAGGTTGCCCGGGAGCT	0.612000													12	31					0.000422831	0.000869062	0.004007	1	0
SATB1	6304	broad.mit.edu	37	3	18393664	18393664	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:18393664G>A	ENST00000338745.6	-	10	3333	c.1599C>T	c.(1597-1599)cgC>cgT	p.R533R	SATB1_ENST00000417717.2_Silent_p.R533R|SATB1_ENST00000454909.2_Silent_p.R533R|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	533					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTCTTTCCAGCGTAACAGCT	0.483000													10	49					0	0	0.006214	0	0
TRIOBP	11078	broad.mit.edu	37	22	38122340	38122340	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38122340G>A	ENST00000406386.3	+	7	4032	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1259					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCCTCCCGGGGAGACCAGGC	0.716000													11	27					0	0	0.001368	0	0
ANO9	338440	broad.mit.edu	37	11	428574	428574	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:428574G>A	ENST00000332826.6	-	13	1170	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	362						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGAGCTGCTGAAGAGCGCGG	0.667000													20	41					0	0	0.002299	0	0
TMEM40	55287	broad.mit.edu	37	3	12779254	12779254	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:12779254C>T	ENST00000314124.7	-	8	781		c.e8-1		TMEM40_ENST00000264728.8_Splice_Site|TMEM40_ENST00000435575.1_Splice_Site|TMEM40_ENST00000431022.2_Splice_Site|TMEM40_ENST00000476331.1_Splice_Site|TMEM40_ENST00000435218.2_Splice_Site	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40							integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCACTTCTCCTTAAGAACAA	0.403000													16	68					0	0	0.004990	0	0
TRIML2	205860	broad.mit.edu	37	4	189020158	189020158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:189020158G>A	ENST00000536972.1	-	5	899	c.652C>T	c.(652-654)Cat>Tat	p.H218Y	TRIML2_ENST00000326754.3_Intron|TRIML2_ENST00000512729.1_Intron			Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	0	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATACTGGAATGAATTTTATTT	0.428000													16	19					0	0	0.004990	0	0
STAG3	10734	broad.mit.edu	37	7	99808749	99808749	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99808749C>T	ENST00000426455.1	+	30	3761	c.3354C>T	c.(3352-3354)ccC>ccT	p.P1118P	STAG3_ENST00000317296.5_Silent_p.P1118P|STAG3_ENST00000394018.2_Silent_p.P1060P|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1118					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCCCTGTGGGGGT	0.582000													25	67					0	0	0.004656	0	0
CCDC63	160762	broad.mit.edu	37	12	111317776	111317776	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:111317776C>T	ENST00000308208.5	+	6	798	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Nonsense_Mutation_p.R107*|CCDC63_ENST00000545036.1_Nonsense_Mutation_p.R146*	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	186										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGAAGACCTACGATTTGAGAA	0.468000													47	56					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138452857	138452857	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:138452857T>C	ENST00000344876.4	-	1	772	c.386A>G	c.(385-387)gAt>gGt	p.D129G	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.D129G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	129	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCATTAATATCCAGCACTTC	0.428000													38	55					0	0	0.004289	0	0
PAPLN	89932	broad.mit.edu	37	14	73726128	73726128	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:73726128C>T	ENST00000427855.1	+	16	1962	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	PAPLN_ENST00000554301.1_Silent_p.P620P|PAPLN_ENST00000340738.5_Silent_p.P593P|PAPLN_ENST00000555445.1_Silent_p.P620P|PAPLN_ENST00000381166.3_Silent_p.P620P			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	620						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCAGCAACCCCTGCGGTCGG	0.697000													13	22					0	0	0.001368	0	0
EIF4A1	1973	broad.mit.edu	37	17	7479910	7479910	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7479910C>T	ENST00000293831.8	+	5	430	c.414C>T	c.(412-414)acC>acT	p.T138T	EIF4A1_ENST00000577269.1_Silent_p.T138T|EIF4A1_ENST00000582746.1_Silent_p.T138T|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	138	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCGGGGGCACCAACGTGCGTG	0.557000													21	29					0	0	0.002299	0	0
TMC5	79838	broad.mit.edu	37	16	19451967	19451967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:19451967G>A	ENST00000396229.2	+	3	1356	c.607G>A	c.(607-609)Gga>Aga	p.G203R	TMC5_ENST00000542583.2_Missense_Mutation_p.G203R|TMC5_ENST00000381414.4_Missense_Mutation_p.G203R|TMC5_ENST00000541464.1_Missense_Mutation_p.G203R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	203						integral to membrane		p.G203*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGACTCTCTGGGAAAGCCTGA	0.473000													32	47					0	0	0.001786	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:176833426C>T	ENST00000367654.2	-	23	3916	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.E1293E			O14525	ASTN1_HUMAN	astrotactin 1	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000													49	176					0	0	0.003610	0	0
CNTD2	79935	broad.mit.edu	37	19	40732303	40732303	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:40732303C>T	ENST00000430325.2	-	1	294	c.246G>A	c.(244-246)ggG>ggA	p.G82G	CNTD2_ENST00000433940.1_Silent_p.G82G	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	82					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGAAGATGTCCCCGGCGTACT	0.726000													7	10					0	0	0.008291	0	0
ESRRB	2103	broad.mit.edu	37	14	76965128	76965128	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:76965128C>T	ENST00000261532.7	+	8	1428	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	ESRRB_ENST00000509242.1_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA|ESRRB_ENST00000380887.2_Intron			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCTCCCCTCCACCGAG	0.617000													16	34					0	0	0.004990	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603749	26603749	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:26603749C>T	ENST00000577198.1	-	0	1212					NR_028334.1																						GCAGCTTCTCCTTGAGAGCCT	0.517000													5	15					0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410826	105410826	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:105410826C>T	ENST00000333244.5	-	7	11081	c.10962G>A	c.(10960-10962)ggG>ggA	p.G3654G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3654			G -> E (in dbSNP:rs28380382).			nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGGACTTCCCTGGGGCCG	0.572000													44	143					0	0	0.003214	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000													17	58					0	0	0.001523	0	0
ARRB1	408	broad.mit.edu	37	11	74994428	74994428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:74994428G>A	ENST00000420843.2	-	5	354	c.257C>T	c.(256-258)tCg>tTg	p.S86L	ARRB1_ENST00000393505.4_Missense_Mutation_p.S86L|ARRB1_ENST00000360025.3_Missense_Mutation_p.S86L	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	86	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CGGTGGGAACGACTGTACGTT	0.617000													20	46					0	0	0.001882	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77515943	77515943	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:77515943G>A	ENST00000477717.1	+	4	907	c.671_splice	c.e4-1	p.R224_splice		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	224					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TTCCTTCCAGGAAGATATCCA	0.418000													64	107					0	0	0.003610	0	0
LIPH	200879	broad.mit.edu	37	3	185232280	185232280	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:185232280A>C	ENST00000296252.4	-	8	1153	c.1012T>G	c.(1012-1014)Tgg>Ggg	p.W338G	LIPH_ENST00000424591.2_Missense_Mutation_p.W304G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	338					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTCTTGTTCCATGTTATAATA	0.388000													150	348					0	0	0.003610	0	0
MAPK4	5596	broad.mit.edu	37	18	48255649	48255649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48255649C>T	ENST00000400384.2	+	6	2225	c.1189C>T	c.(1189-1191)Ccg>Tcg	p.P397S	MAPK4_ENST00000540640.1_Missense_Mutation_p.P186S|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	397					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCAGGTGGACCCGCGCAAGGA	0.706000													9	41					0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	99690341	99690341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99690341C>T	ENST00000524871.1	+	4	412	c.122C>T	c.(121-123)tCa>tTa	p.S41L	CNTN5_ENST00000528682.1_Missense_Mutation_p.S41L|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.S41L|CNTN5_ENST00000279463.3_Missense_Mutation_p.S41L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	41					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)		AAGAAGAGTTCATCTTCATCT	0.403000													25	56					0	0	0.003954	0	0
MYO3A	53904	broad.mit.edu	37	10	26462931	26462931	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26462931G>A	ENST00000265944.5	+	30	3904	c.3738G>A	c.(3736-3738)gaG>gaA	p.E1246E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1246					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTACACAGAGGAGAGGAATT	0.438000													22	42					0	0	0.003954	0	0
PLCH1	23007	broad.mit.edu	37	3	155311970	155311970	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:155311970A>G	ENST00000460012.1	-	4	497	c.140T>C	c.(139-141)cTt>cCt	p.L47P	PLCH1_ENST00000494598.1_Missense_Mutation_p.L65P|PLCH1_ENST00000414191.1_Missense_Mutation_p.L47P|PLCH1_ENST00000334686.6_Missense_Mutation_p.L47P|PLCH1_ENST00000447496.2_Missense_Mutation_p.L65P|PLCH1_ENST00000340059.7_Missense_Mutation_p.L65P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	65	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGAATCAATAAGTACTGTGAG	0.398000													20	43					0	0	0.003330	0	0
MUC16	94025	broad.mit.edu	37	19	8976814	8976814	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8976814G>A	ENST00000397910.4	-	73	42455	c.42252C>T	c.(42250-42252)tcC>tcT	p.S14084S	MUC16_ENST00000380951.5_Silent_p.S725S|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14114				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGAGATTGGAGATGGTGA	0.572000													15	54					0	0	0.004007	0	0
DCC	1630	broad.mit.edu	37	18	50866120	50866120	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:50866120G>A	ENST00000442544.2	+	15	2818	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	DCC_ENST00000581580.1_Silent_p.V389V|DCC_ENST00000412726.1_Silent_p.V582V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	734	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCTTCATGTGAGGCCCCAGA	0.463000													39	98					0	0	0.002852	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914405	147914405	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147914405G>A	ENST00000361727.3	+	19	3552	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G	CNTNAP2_ENST00000538075.1_Silent_p.G71G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1012					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGAAGAAGGGATGTGGCTAC	0.488000										HNSCC(39;0.1)			45	75					0	0	0.002522	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14848771	14848771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:14848771G>A	ENST00000358984.4	+	34	3061	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1046										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGGAAGGGAACTTAAAAA	0.323000													5	5					0	0	0.001168	0	0
LOC401127	401127	broad.mit.edu	37	4	39482951	39482951	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:39482951G>A	ENST00000513652.1	+	0	958																											AACTTCAGACGAAAGAGATTG	0.438000													18	28					0	0	0.006122	0	0
NFU1	27247	broad.mit.edu	37	2	69664535	69664535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:69664535C>T	ENST00000410022.2	-	1	225	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000394305.1_5'UTR|NFU1_ENST00000303698.3_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	7					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCCCCAGCCCCGCCTGGCCGT	0.697000											OREG0014671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	0.004482	0	0
DNAH8	1769	broad.mit.edu	37	6	38770972	38770972	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38770972G>C	ENST00000359357.3	+	20	2522	c.2268G>C	c.(2266-2268)tgG>tgC	p.W756C	DNAH8_ENST00000441566.1_Missense_Mutation_p.W756C|DNAH8_ENST00000449981.2_Missense_Mutation_p.W973C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAAAGAATGGGCTGACATTC	0.303000													20	28					0	0	0.002299	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577042	158577042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158577042C>T	ENST00000361284.1	+	1	814	c.814C>T	c.(814-816)Cag>Tag	p.Q272*		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGAGAGAGATCAGCTTATTGC	0.468000													99	261					0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31571779	31571779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31571779G>A	ENST00000379416.3	-	27	3085	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1013					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCAGAAAAGGAACTGTAAAG	0.388000													18	26					0	0	0.001523	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767876	77767876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:77767876C>T	ENST00000521891.2	+	10	9167	c.8719C>T	c.(8719-8721)Ccg>Tcg	p.P2907S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2881S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2862S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2862S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATAGCGGACCCGAGCTCCCC	0.502000										HNSCC(33;0.089)			8	28					0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	167760074	167760074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:167760074C>T	ENST00000409195.1	+	2	171	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	XIRP2_ENST00000420519.1_Missense_Mutation_p.P28S|XIRP2_ENST00000409728.1_Missense_Mutation_p.P28S|XIRP2_ENST00000409043.1_Missense_Mutation_p.P28S|XIRP2_ENST00000409756.2_Missense_Mutation_p.P28S|XIRP2_ENST00000295237.9_Missense_Mutation_p.P28S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGTGTCATCCCAGGGACAG	0.498000													31	34					0	0	0.002836	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869354	147869354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147869354G>A	ENST00000361727.3	+	18	3310	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	932	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCCAGCAGGGCTTCCTGGG	0.522000										HNSCC(39;0.1)			32	52					0	0	0.002096	0	0
ACTC1	70	broad.mit.edu	37	15	35084372	35084372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:35084372C>T	ENST00000290378.4	-	5	1382	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	243					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCAGGCAGTTCATAGCTCTTC	0.512000													23	51					0	0	0.002299	0	0
PI16	221476	broad.mit.edu	37	6	36922597	36922597	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:36922597A>C	ENST00000373674.3	+	1	389	c.61A>C	c.(61-63)Acc>Ccc	p.T21P		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	21						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						gctggtgGCCACCACAGGCCC	0.622000													13	56					0	0	0.003163	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39414279	39414279	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:39414279A>G	ENST00000361441.3	+	4	740	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	154					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CTCAGATTTTAAATATTGTTG	0.483000													78	163					0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66461347	66461347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:66461347G>A	ENST00000404260.3	+	29	6657	c.6349G>A	c.(6349-6351)Gat>Aat	p.D2117N	MAST4_ENST00000261569.7_Missense_Mutation_p.D1920N|MAST4_ENST00000403666.1_Missense_Mutation_p.D1925N|MAST4_ENST00000403625.2_Missense_Mutation_p.D2114N|MAST4_ENST00000405643.1_Missense_Mutation_p.D1935N			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2117						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGCAGAAAGATGGTGCCAA	0.577000													18	26					0	0	0.007413	0	0
DNAH17	8632	broad.mit.edu	37	17	76557915	76557915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:76557915C>T	ENST00000389840.5	-	12	1841	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	DNAH17_ENST00000585328.1_Missense_Mutation_p.G573R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGATGTTCCCCTCCTCGGAG	0.577000													7	17					0	0	0.001984	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450657	32450657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:32450657G>A	ENST00000306901.3	+	7	740	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CHRNA7_ENST00000455693.2_Missense_Mutation_p.E34K|CHRNA7_ENST00000454250.3_Missense_Mutation_p.E244K	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	215					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GTGCTGCAAAGAGCCCTACCC	0.542000													40	69					0	0	0.003610	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410563	5410563	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:5410563A>G	ENST00000341928.2	-	14	2462		c.e14+1		EPB41L3_ENST00000542146.1_Splice_Site|EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATACCAACCTCAGTGGC	0.542000													11	27					0	0	0.001855	0	0
LAMA5	3911	broad.mit.edu	37	20	60893546	60893546	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:60893546G>A	ENST00000252999.3	-	53	7269	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2401	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCGGCTGTTGAGCTCCTGGG	0.672000													29	57					0	0	0.001786	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987388	35987388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:35987388C>T	ENST00000490799.1	-	2	450	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SLC26A8_ENST00000394602.2_Missense_Mutation_p.E33K|SLC26A8_ENST00000355574.2_Missense_Mutation_p.E33K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	33					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGAAAGGTCTCCTCATTGTAT	0.498000													40	27					0	0	0.005524	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526211	150526211	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150526211C>T	ENST00000271643.4	+	6	980	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADAMTSL4_ENST00000369039.5_Silent_p.P248P|ADAMTSL4_ENST00000369041.5_Silent_p.P248P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.P248P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	248					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCCTGCCCCCCTACGGCATC	0.637000													23	54					0	0	0.002299	0	0
CCDC87	55231	broad.mit.edu	37	11	66358132	66358132	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:66358132G>A	ENST00000333861.3	-	1	2422	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	785										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCCAGGAGGGAAACCAAAG	0.488000													61	130					0	0	0.003610	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184508	64184508	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:64184508A>C	ENST00000295902.6	-	2	681	c.96T>G	c.(94-96)tgT>tgG	p.C32W	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.C88W|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	32	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTTCCAAAGCACAGCCTGAGT	0.522000													26	52					0	0	0.003954	0	0
CACNA1F	778	broad.mit.edu	37	X	49068736	49068736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:49068736C>T	ENST00000376265.2	-	34	4069	c.4008G>A	c.(4006-4008)atG>atA	p.M1336I	CACNA1F_ENST00000376251.1_Missense_Mutation_p.M1271I|CACNA1F_ENST00000323022.5_Missense_Mutation_p.M1325I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1336					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGAAGAATATCATTGCGATGA	0.527000													22	10					0	0	0.004656	0	0
DRD2	1813	broad.mit.edu	37	11	113283384	113283384	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:113283384C>T	ENST00000362072.3	-	7	1376	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	DRD2_ENST00000355319.2_Silent_p.Q346Q|DRD2_ENST00000346454.3_Silent_p.Q315Q|DRD2_ENST00000542968.1_Silent_p.Q344Q|DRD2_ENST00000538967.1_Silent_p.Q346Q|DRD2_ENST00000544518.1_Silent_p.Q343Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	344	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGGCATGGTCTGGATCTCAA	0.562000													25	32					0	0	0.003954	0	0
PRL	5617	broad.mit.edu	37	6	22294707	22294707	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:22294707G>A	ENST00000306482.1	-	2	653	c.135C>T	c.(133-135)gaC>gaT	p.D45D	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	45					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGTCAAACAGGTCTCGAAGGG	0.597000													20	51					0	0	0.001523	0	0
PREX2	80243	broad.mit.edu	37	8	68931862	68931862	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68931862G>A	ENST00000288368.4	+	3	569	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	98	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTACACCCCGAACCTAATGC	0.328000													16	27					0	0	0.003163	0	0
ZNF831	128611	broad.mit.edu	37	20	57768659	57768659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:57768659C>T	ENST00000371030.2	+	1	2585	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	862						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGCCGATCCCGGGGAGGTG	0.647000													18	62					0	0	0.001523	0	0
CNTN5	53942	broad.mit.edu	37	11	99872775	99872775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99872775G>A	ENST00000524871.1	+	9	1177	c.887G>A	c.(886-888)gGa>gAa	p.G296E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G296E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G222E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G296E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G296E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	296					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)		GGTGTGATGGGAGAATATGAG	0.363000													7	9					0	0	0.003080	0	0
TRPC3	7222	broad.mit.edu	37	4	122825578	122825578	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:122825578T>A	ENST00000264811.5	-	7	2351	c.1933A>T	c.(1933-1935)Aat>Tat	p.N645Y	TRPC3_ENST00000513531.1_Missense_Mutation_p.N590Y|TRPC3_ENST00000379645.3_Missense_Mutation_p.N718Y	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	633					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TATCCAATATTTTCTATGAAT	0.318000													25	47					0	0	0.002780	0	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:131916126G>A	ENST00000286355.5	-	7	3895	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_ENST00000377928.3_Silent_p.I601I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	601					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)			35	86					0	0	0.002836	0	0
GAD1	2571	broad.mit.edu	37	2	171687702	171687702	+	Splice_Site	SNP	G	G	A	rs111361241		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:171687702G>A	ENST00000358196.3	+	5	1097	c.547_splice	c.e5+1	p.G183_splice	GAD1_ENST00000344257.5_Splice_Site_p.G183_splice|GAD1_ENST00000375272.1_Splice_Site_p.G183_splice|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	183					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTTCGCACAGGTAAGGAGGA	0.522000													33	82					0	0	0.004878	0	0
KRT15	3866	broad.mit.edu	37	17	39674971	39674971	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39674971C>A	ENST00000254043.3	-	1	3694	c.109G>T	c.(109-111)Ggg>Tgg	p.G37W	KRT15_ENST00000393976.2_Missense_Mutation_p.G37W|KRT15_ENST00000393974.3_5'UTR	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	37	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCACCTCCCCCAGAGAGACTC	0.587000													7	107					0.00307968	0.00630925	0.003080	1	0
CCDC181	57821	broad.mit.edu	37	1	169364365	169364365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169364365C>T	ENST00000545005.1	-	7	1954	c.1447G>A	c.(1447-1449)Gct>Act	p.A483T	BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367806.3_Missense_Mutation_p.A484T|CCDC181_ENST00000367805.3_Missense_Mutation_p.A483T					coiled-coil domain containing 181																		GAACGCTTAGCTTCTAGTCGG	0.383000													28	74					0	0	0.006320	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71365781	71365781	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:71365781A>G	ENST00000498451.2	+	5	1294	c.1260A>G	c.(1258-1260)gtA>gtG	p.V420V	MPHOSPH10_ENST00000244230.2_Intron			O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	0					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CCTCTTCTGTAGTTTTCATGT	0.448000													7	25					0	0	0.006214	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			60	107					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	89948267	89948267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:89948267G>A	ENST00000405460.2	+	19	3617	c.3521G>A	c.(3520-3522)gGa>gAa	p.G1174E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1174	Calx-beta 9.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAACTTCAGGAACTGTTAAC	0.388000													35	47					0	0	0.002836	0	0
OR2G6	391211	broad.mit.edu	37	1	248685202	248685202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248685202G>A	ENST00000343414.4	+	1	287	c.255G>A	c.(253-255)atG>atA	p.M85I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTTACCATGAATAAGAAAG	0.522000													50	88					0	0	0.003610	0	0
LRFN5	145581	broad.mit.edu	37	14	42356660	42356660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42356660C>T	ENST00000554171.1	+	5	3264	c.832C>T	c.(832-834)Cct>Tct	p.P278S	LRFN5_ENST00000298119.4_Missense_Mutation_p.P278S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P278S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	278	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGTCAATTCCTGAAGAAGA	0.473000										HNSCC(30;0.082)			39	77					0	0	0.004289	0	0
ABCA8	10351	broad.mit.edu	37	17	66902259	66902259	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:66902259T>C	ENST00000269080.2	-	17	2341	c.2204A>G	c.(2203-2205)aAt>aGt	p.N735S	ABCA8_ENST00000430352.2_Missense_Mutation_p.N775S|ABCA8_ENST00000586539.1_Missense_Mutation_p.N775S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	735						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACACCATAATTCTCAATTCC	0.313000													54	84					0	0	0.003610	0	0
AHNAK	79026	broad.mit.edu	37	11	62301156	62301156	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:62301156G>A	ENST00000378024.4	-	5	1007	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	245					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGTGACCTGGAGCTTCGAG	0.597000													26	86					0	0	0.001786	0	0
TENM3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183600989G>A	ENST00000511685.1	+	8	1620	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	TENM3_ENST00000406950.2_Silent_p.G499G					teneurin transmembrane protein 3																		ATAATGATGGGAAAAATGCAG	0.448000													11	22					0	0	0.000978	0	0
ALS2CL	259173	broad.mit.edu	37	3	46717854	46717854	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:46717854G>A	ENST00000318962.4	-	19	2150	c.2067C>T	c.(2065-2067)ctC>ctT	p.L689L	ALS2CL_ENST00000415953.1_Silent_p.L689L|ALS2CL_ENST00000383742.3_Silent_p.L36L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	689					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TCAGTGTCCGGAGCAGCTTTC	0.622000													18	58					0	0	0.004656	0	0
OR5C1	392391	broad.mit.edu	37	9	125551786	125551786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125551786C>T	ENST00000373680.2	+	1	637	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTGGCCATCTCGTGCAGTGAC	0.532000													23	26					0	0	0.003954	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832259	24832259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:24832259G>A	ENST00000376451.2	+	14	3369	c.3109G>A	c.(3109-3111)Gag>Aag	p.E1037K	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1354K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1354					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGACCCAAGGAGGCAAGGCA	0.423000													36	65					0	0	0.004878	0	0
OR11H6	122748	broad.mit.edu	37	14	20692321	20692321	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20692321C>T	ENST00000315519.2	+	1	531	c.453C>T	c.(451-453)ccC>ccT	p.P151P		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TACACTACCCCTCCATCATGA	0.423000													33	74					0	0	0.003271	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:7373626C>T	ENST00000502583.1	-	5	1990	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	CAGE1_ENST00000379918.4_Missense_Mutation_p.E476K|CAGE1_ENST00000296742.7_Missense_Mutation_p.E340K|CAGE1_ENST00000338150.4_Missense_Mutation_p.E476K|CAGE1_ENST00000512086.1_Missense_Mutation_p.E476K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAAC	0.398000													40	40					0	0	0.006230	0	0
VWA2	340706	broad.mit.edu	37	10	116046165	116046165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:116046165G>A	ENST00000603594.1	+	11	1786	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	VWA2_ENST00000392982.3_Missense_Mutation_p.E489K	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	489	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGAGCTGGAGGAGATCACAGG	0.632000													31	64					0	0	0.002096	0	0
POLQ	10721	broad.mit.edu	37	3	121178906	121178906	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121178906C>A	ENST00000264233.5	-	25	7271	c.7143G>T	c.(7141-7143)caG>caT	p.Q2381H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2381					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGTTTTGCCTGCTGCCTCA	0.383000								DNA polymerases (catalytic subunits)					47	118					1.52121e-46	3.18255e-46	0.003610	1	0
RYR3	6263	broad.mit.edu	37	15	33603283	33603283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:33603283C>T	ENST00000389232.4	+	1	107	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Q13*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	13					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACGAGATCCAGTTTCTGAG	0.756000													19	40					0	0	0.008871	0	0
KRT71	112802	broad.mit.edu	37	12	52939383	52939383	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:52939383C>T	ENST00000267119.5	-	8	1395	c.1325_splice	c.e8-1	p.R442_splice		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	442	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTGACATCCTATTAAGGA	0.418000													26	31					0	0	0.007291	0	0
TECTB	6975	broad.mit.edu	37	10	114053575	114053575	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:114053575T>G	ENST00000369422.3	+	5	563	c.563T>G	c.(562-564)gTg>gGg	p.V188G		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	188	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTTGCAGGAGTGGAAGCCAAA	0.388000													22	53					0	0	0.001882	0	0
EFNA5	1946	broad.mit.edu	37	5	106723429	106723429	+	Silent	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:106723429G>C	ENST00000333274.6	-	3	743	c.462C>G	c.(460-462)ctC>ctG	p.L154L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Silent_p.L154L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	154					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CAAAGACTTTGAGCTTTAGAC	0.453000													48	175					0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19425327	19425327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:19425327G>A	ENST00000338883.4	-	13	1822	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.S440F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.S43F	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	608							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCTTCGGTGGAAAAGTAGAT	0.338000													34	16					0	0	0.004289	0	0
EIF4A1	1973	broad.mit.edu	37	17	7479909	7479909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7479909C>T	ENST00000293831.8	+	5	429	c.413C>T	c.(412-414)aCc>aTc	p.T138I	EIF4A1_ENST00000577269.1_Missense_Mutation_p.T138I|EIF4A1_ENST00000582746.1_Missense_Mutation_p.T138I|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	138	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ATCGGGGGCACCAACGTGCGT	0.562000													20	28					0	0	0.001882	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553894	84553894	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:84553894C>T	ENST00000286744.5	+	10	1226	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ADAMTSL3_ENST00000567476.1_Silent_p.F334F	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	334						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.F334L(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGTTCTTCTTTTACCAGC	0.493000													11	28					0	0	0.001855	0	0
IRX6	79190	broad.mit.edu	37	16	55361271	55361271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55361271G>A	ENST00000290552.7	+	3	1699	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACAACCAGGAGCCTATTATCC	0.502000													26	44					0	0	0.002096	0	0
NPHS2	7827	broad.mit.edu	37	1	179533877	179533877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179533877G>A	ENST00000367615.4	-	2	394	c.326C>T	c.(325-327)tCc>tTc	p.S109F	NPHS2_ENST00000367616.4_Missense_Mutation_p.S109F	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	109					excretion	integral to plasma membrane	protein binding	p.S109F(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGAGCAGGGAAATGAGGAC	0.413000													18	60					0	0	0.001882	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027344	55027344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:55027344G>A	ENST00000324000.3	+	4	3013	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	327					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTTGGATTTGACCCCAACAC	0.448000													23	54					0	0	0.004656	0	0
DMC1	11144	broad.mit.edu	37	22	38934544	38934544	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38934544C>T	ENST00000216024.2	-	10	936	c.660_splice	c.e10+1	p.L220_splice	DMC1_ENST00000428462.2_Splice_Site_p.L165_splice	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	220					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAGCTTGTACCAATAGCTTGA	0.353000								Homologous recombination					56	121					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481489	27481489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:27481489C>T	ENST00000356183.4	-	31	4769	c.4754G>A	c.(4753-4755)aGg>aAg	p.R1585K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1585K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1585						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCCGGGATCCTGACATCCAC	0.557000													63	118					0	0	0.003610	0	0
HABP4	22927	broad.mit.edu	37	9	99220751	99220751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:99220751C>T	ENST00000375249.4	+	2	515	c.440C>T	c.(439-441)tCc>tTc	p.S147F	HABP4_ENST00000375251.3_Missense_Mutation_p.S147F	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	147					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAGCGGAGATCCTACAGGGAA	0.567000													30	29					0	0	0.008361	0	0
SCARA5	286133	broad.mit.edu	37	8	27823961	27823961	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:27823961G>A	ENST00000354914.3	-	3	696	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SCARA5_ENST00000380385.2_Silent_p.L71L|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000524352.1_Silent_p.L71L|SCARA5_ENST00000301906.4_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	71					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAAGAATCAGGAAGACCAGC	0.547000													34	70					0	0	0.002096	0	0
ANGPT2	285	broad.mit.edu	37	8	6371361	6371361	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:6371361A>C	ENST00000325203.5	-	7	1511	c.1037T>G	c.(1036-1038)tTt>tGt	p.F346C	ANGPT2_ENST00000415216.1_Missense_Mutation_p.F345C|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.F294C|ANGPT2_ENST00000523120.1_Missense_Mutation_p.F345C			O15123	ANGP2_HUMAN	angiopoietin 2	346	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGGGTTACCAAATCCCTGTAA	0.338000													39	56					0	0	0.003214	0	0
TOM1	10043	broad.mit.edu	37	22	35719769	35719769	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:35719769C>T	ENST00000382034.5	+	7	651	c.309C>T	c.(307-309)ttC>ttT	p.F103F	TOM1_ENST00000449058.2_Silent_p.F170F|TOM1_ENST00000447733.1_Silent_p.F137F|TOM1_ENST00000425375.1_Silent_p.F125F|TOM1_ENST00000411850.1_Silent_p.F170F|TOM1_ENST00000436462.2_Silent_p.F132F			O60784	TOM1_HUMAN	target of myb1 (chicken)	170	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AGACCGTGTTCAACTCAGAGA	0.592000													31	53					0	0	0.003755	0	0
PLXDC2	84898	broad.mit.edu	37	10	20465933	20465933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:20465933C>T	ENST00000377252.3	+	8	1730	c.889C>T	c.(889-891)Cga>Tga	p.R297*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.R248*|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	297						integral to membrane		p.R297G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTAGATGTTCGAAGAAGAAC	0.323000													43	100					0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48388700	48388700	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:48388700G>A	ENST00000224600.4	-	1	2291	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	726	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TAAGGTAGGTGAGCTCCTCTG	0.622000													22	46					0	0	0.002780	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:41313799C>T	ENST00000377801.3	-	3	960	c.886G>A	c.(886-888)Gat>Aat	p.D296N	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296N			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448000													25	37					0	0	0.007291	0	0
RNF165	494470	broad.mit.edu	37	18	44013377	44013377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:44013377C>T	ENST00000269439.7	+	2	337	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	96							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CGTCACAGGTCCCTCCTTCCT	0.687000													30	51					0	0	0.002445	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921619	47921619	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:47921619C>T	ENST00000289672.2	-	20	3380	c.3330G>A	c.(3328-3330)ggG>ggA	p.G1110G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1110	REJ.				cell-cell adhesion	integral to membrane		p.G1110G(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAGGTTATCCCCATCTCCAG	0.552000													22	54					0	0	0.002299	0	0
IDO2	169355	broad.mit.edu	37	8	39847324	39847324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39847324C>T	ENST00000502986.2	+	8	915	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	IDO2_ENST00000389060.4_Nonsense_Mutation_p.Q212*|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_3'UTR	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	212					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTGTCTATTCAGGACATCAC	0.562000											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	12					0	0	0.001168	0	0
TDRD5	163589	broad.mit.edu	37	1	179631385	179631385	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179631385G>A	ENST00000444136.1	+	15	2719	c.2469G>A	c.(2467-2469)aaG>aaA	p.K823K	TDRD5_ENST00000294848.8_Silent_p.K769K|TDRD5_ENST00000367614.1_Silent_p.K769K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	811					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTGGTGGAAAGAATCAGTATT	0.448000													18	55					0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4920202	4920202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:4920202G>A	ENST00000433855.1	+	1	1861	c.995G>A	c.(994-996)gGg>gAg	p.G332E	KCNA6_ENST00000280684.3_Missense_Mutation_p.G332E	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	332						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGCCAGAATGGGCAGCAGGCC	0.622000										HNSCC(72;0.22)			16	28					0	0	0.004007	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028737	141028737	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:141028737A>G	ENST00000435817.2	-	6	563		c.e6+1		FCHSD1_ENST00000519800.1_Splice_Site|FCHSD1_ENST00000522126.1_Splice_Site|FCHSD1_ENST00000522783.1_Splice_Site	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1										FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACCCCACCTGGCCTGG	0.627000													27	17					0	0	0.005443	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979443	44979443	+	Silent	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:44979443C>A	ENST00000372227.1	-	9	1464	c.924G>T	c.(922-924)tcG>tcT	p.S308S	SLC35C2_ENST00000372230.5_Silent_p.S308S|SLC35C2_ENST00000243896.2_Silent_p.S308S|SLC35C2_ENST00000543605.1_Silent_p.S337S|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372229.1_Silent_p.S175S|SLC35C2_ENST00000317734.8_Silent_p.S287S			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	308					transport	integral to membrane		p.S308S(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GGGATATTCCCGAGAGGCAGA	0.562000													5	108					0.000602214	0.00123695	0.000602	1	0
XIRP2	129446	broad.mit.edu	37	2	168099850	168099850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168099850G>A	ENST00000409195.1	+	9	2037	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D650N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D428N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	475					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCCAGAGGAGATGTCTGCAC	0.433000													19	36					0	0	0.007413	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20385733A>G	ENST00000430523.3	-	0	2078					NR_003563.1																						TACTTCAAGAACTTGATTGTC	0.537000													3	19					0	0	0.004672	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:84526400C>T	ENST00000360700.4	+	10	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_ENST00000373165.3_Missense_Mutation_p.P618S|ZNF711_ENST00000542798.1_Missense_Mutation_p.P460S|ZNF711_ENST00000395402.1_Missense_Mutation_p.P626S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P618S			Q9Y462	ZN711_HUMAN	zinc finger protein 711	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000													11	4					0	0	0.000978	0	0
OR7D2	162998	broad.mit.edu	37	19	9296743	9296743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9296743G>A	ENST00000344248.2	+	1	465	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	96					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCCTACATGGACTGCCTCAC	0.522000													54	169					0	0	0.003610	0	0
OR51L1	119682	broad.mit.edu	37	11	5020531	5020531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5020531C>T	ENST00000321543.1	+	1	319	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCTTCATCCACACATTCAC	0.522000													47	100					0	0	0.003610	0	0
HAO2	51179	broad.mit.edu	37	1	119936448	119936448	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:119936448G>A	ENST00000361035.4	+	9	1363	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	HAO2_ENST00000325945.3_Silent_p.Q347Q|HAO2_ENST00000482991.1_3'UTR	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	347					fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACTTGGTCCAGTTTTCCAGGC	0.473000													56	99					0	0	0.003610	0	0
RNF17	56163	broad.mit.edu	37	13	25376564	25376564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:25376564G>A	ENST00000255324.5	+	14	1856	c.1804G>A	c.(1804-1806)Gta>Ata	p.V602I	RNF17_ENST00000381921.1_Missense_Mutation_p.V602I|RNF17_ENST00000255325.5_Missense_Mutation_p.V603I	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	602					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTGAAAATGGTAAATAACAA	0.333000													46	70					0	0	0.003610	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652861	40652861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:40652861C>T	ENST00000343619.4	+	16	1939	c.1816C>T	c.(1816-1818)Cca>Tca	p.P606S	ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P606S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P613S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P563S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P563S|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.P252S|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P606S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	606					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGAGAATGCACCAAGCCTTCT	0.413000													41	128					0	0	0.007835	0	0
RTKN	6242	broad.mit.edu	37	2	74657764	74657764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74657764G>A	ENST00000305557.5	-	4	898	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	RTKN_ENST00000233330.6_Missense_Mutation_p.R68C|RTKN_ENST00000272430.5_Missense_Mutation_p.R118C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	118					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ACCCGGCCGCGGCAGGGGGAG	0.612000													29	58					0	0	0.007291	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756337	94756337	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:94756337G>A	ENST00000554723.1	-	2	1132	c.714C>T	c.(712-714)gcC>gcT	p.A238A	SERPINA10_ENST00000554173.1_Silent_p.A198A|SERPINA10_ENST00000261994.4_Silent_p.A198A|SERPINA10_ENST00000393096.1_Silent_p.A198A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	198					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGCCTGTGAGGCATTGCGAA	0.378000													32	81					0	0	0.003755	0	0
ABCA3	21	broad.mit.edu	37	16	2376240	2376240	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2376240G>A	ENST00000301732.5	-	5	790	c.90C>T	c.(88-90)ttC>ttT	p.F30F	ABCA3_ENST00000567910.1_Silent_p.F30F|ABCA3_ENST00000382381.3_Silent_p.F30F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	30					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAATGGCAGGAAGAGTTCCA	0.572000													17	62					0	0	0.001523	0	0
TMEM131	23505	broad.mit.edu	37	2	98408897	98408897	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:98408897G>A	ENST00000186436.5	-	31	4324	c.4096C>T	c.(4096-4098)Cta>Tta	p.L1366L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1366						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACACTTCTAGGGCTGGGGAG	0.542000													13	18					0	0	0.004990	0	0
DPT	1805	broad.mit.edu	37	1	168670317	168670317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:168670317C>T	ENST00000367817.3	-	3	566	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	159	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTAGGAAATCATGTCCATTT	0.418000													45	208					0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43513659	43513659	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:43513659C>T	ENST00000039989.4	+	23	3254	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1080							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGTAGAGATCGCACCACACT	0.522000													57	98					0	0	0.003610	0	0
FAM133A	286499	broad.mit.edu	37	X	92964506	92964506	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:92964506A>T	ENST00000538690.1	+	5	649	c.88A>T	c.(88-90)Atc>Ttc	p.I30F	FAM133A_ENST00000332647.4_Missense_Mutation_p.I30F|FAM133A_ENST00000322139.4_Missense_Mutation_p.I30F|FAM133A_ENST00000355813.5_Missense_Mutation_p.I30F	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	30										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GGGCCCAACAATCCAAGATTA	0.423000													19	8					0	0	0.006122	0	0
KIF2B	84643	broad.mit.edu	37	17	51902354	51902354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:51902354G>A	ENST00000268919.4	+	1	2116	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	654					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCTCTGACCGAGATCCAAAA	0.453000													33	50					0	0	0.004289	0	0
MYRIP	25924	broad.mit.edu	37	3	40231347	40231347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:40231347G>A	ENST00000302541.6	+	10	1400	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	MYRIP_ENST00000444716.1_Missense_Mutation_p.G353E|MYRIP_ENST00000396217.3_Missense_Mutation_p.G264E|MYRIP_ENST00000425621.1_Missense_Mutation_p.G353E|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.G166E	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	353	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.S350fs*4(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGCCCCGACGGGAACTGGGTG	0.587000													33	94					0	0	0.004878	0	0
GNA15	2769	broad.mit.edu	37	19	3155944	3155944	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:3155944C>T	ENST00000262958.3	+	5	996	c.738C>T	c.(736-738)aaC>aaT	p.N246N		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	246					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.N246N(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGAACAACCAGGAGGTGC	0.587000													13	37					0	0	0.001368	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54615852	54615852	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:54615852T>C	ENST00000474759.1	+	9	959	c.911T>C	c.(910-912)gTg>gCg	p.V304A	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V304A|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V210A|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V304A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	304	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTCACTATGTGGAACCTTGC	0.453000													17	32					0	0	0.001882	0	0
PLCZ1	89869	broad.mit.edu	37	12	18836243	18836243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:18836243G>A	ENST00000447925.2	-	15	2020	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	PLCZ1_ENST00000534932.1_Missense_Mutation_p.P67L|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P393L|PLCZ1_ENST00000435379.1_Missense_Mutation_p.P391L|PLCZ1_ENST00000266505.7_Missense_Mutation_p.P586L|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.P368L	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	586					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAAAACAGAGGAATACGACG	0.383000													25	67					0	0	0.004656	0	0
DUSP27	92235	broad.mit.edu	37	1	167097203	167097203	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167097203G>A	ENST00000361200.2	+	6	3001	c.2835G>A	c.(2833-2835)gaG>gaA	p.E945E	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.E945E|DUSP27_ENST00000271385.5_Silent_p.E945E			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	945	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAGGACGGAGGAAAAACCTC	0.507000													15	41					0	0	0.004990	0	0
GINS4	84296	broad.mit.edu	37	8	41387742	41387742	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:41387742C>T	ENST00000523277.2	+	2	188	c.21C>T	c.(19-21)ttC>ttT	p.F7F	GINS4_ENST00000276533.3_Silent_p.F7F|GINS4_ENST00000518671.1_Silent_p.F7F|GINS4_ENST00000520710.1_Silent_p.F7F			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	7					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTGGATTTCCTGGGACAGG	0.463000													25	51					0	0	0.006320	0	0
RAG2	5897	broad.mit.edu	37	11	36614256	36614256	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:36614256A>G	ENST00000311485.3	-	2	1624	c.1463T>C	c.(1462-1464)cTa>cCa	p.L488P		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	488					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGGAGTGTGTAGAGCTCTTGC	0.453000									Familial Hemophagocytic Lymphohistiocytosis				33	90					0	0	0.006999	0	0
ZBTB41	360023	broad.mit.edu	37	1	197168953	197168953	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:197168953A>G	ENST00000367405.4	-	1	719	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACTTTTTATAACAAAAATGTC	0.338000													8	31					0	0	0.003080	0	0
DUSP27	92235	broad.mit.edu	37	1	167088675	167088675	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167088675C>T	ENST00000361200.2	+	5	793	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DUSP27_ENST00000443333.1_Silent_p.F209F|DUSP27_ENST00000271385.5_Silent_p.F209F			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	209	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGTCTGAGTTCCTGGATGAGG	0.532000													11	46					0	0	0.001368	0	0
MYO3A	53904	broad.mit.edu	37	10	26463486	26463486	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26463486G>A	ENST00000265944.5	+	30	4459	c.4293_splice	c.e30+1	p.Q1431_splice	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1431					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTCAAAACAGGTATGTGAAT	0.294000													16	38					0	0	0.003163	0	0
YLPM1	56252	broad.mit.edu	37	14	75265470	75265470	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75265470T>C	ENST00000325680.7	+	5	3594	c.3470T>C	c.(3469-3471)cTg>cCg	p.L1157P	YLPM1_ENST00000238571.3_Missense_Mutation_p.L962P|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	962	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAAAGGGGACTGGGAAGATCA	0.552000													10	24					0	0	0.008291	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102489128	102489128	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:102489128A>G	ENST00000360184.4	+	43	8712	c.8548A>G	c.(8548-8550)Atc>Gtc	p.I2850V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2850					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGATGAGAACATCGACACGGT	0.517000													37	68					0	0	0.005524	0	0
SCN9A	6335	broad.mit.edu	37	2	167137049	167137049	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:167137049A>G	ENST00000375387.4	-	14	2504	c.2164T>C	c.(2164-2166)Ttc>Ctc	p.F722L	SCN9A_ENST00000409435.1_Missense_Mutation_p.F721L|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.F710L|SCN9A_ENST00000303354.6_Missense_Mutation_p.F722L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	721						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGATCAAGAATTTGTGTGCA	0.363000													5	10					0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9083313C>T	ENST00000397910.4	-	1	8705	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTCTGTTCGTGGTGATTT	0.507000													9	36					0	0	0.008291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81190503	81190503	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81190503C>T	ENST00000525539.1	-	0	4085				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCGCCCAGATCACCACCAGCA	0.567000													11	32					0	0	0.001368	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062138	41062138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:41062138G>A	ENST00000352632.3	+	25	5319	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	SPTBN4_ENST00000392025.1_Missense_Mutation_p.E488K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1745K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1745K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1745K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E421K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1745					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGATTGCCGAGAAGGAGGT	0.587000													6	18					0	0	0.001168	0	0
FAM114A1	92689	broad.mit.edu	37	4	38937390	38937390	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38937390G>A	ENST00000358869.2	+	13	1691	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	FAM114A1_ENST00000515037.1_Silent_p.T298T|FAM114A1_ENST00000513966.1_3'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	505						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAAGTTTACGAATTCTTTAA	0.343000													27	61					0	0	0.007291	0	0
LEPR	3953	broad.mit.edu	37	1	66031251	66031251	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:66031251G>A	ENST00000349533.6	+	3	188	c.3G>A	c.(1-3)atG>atA	p.M1I	LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Start_Codon_SNP_p.M1I|LEPR_ENST00000344610.8_Start_Codon_SNP_p.M1I|LEPR_ENST00000371058.1_Start_Codon_SNP_p.M1I|LEPR_ENST00000371060.3_Start_Codon_SNP_p.M1I	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAGTAAGATGATTTGTCAAA	0.318000													19	40					0	0	0.001882	0	0
ANPEP	290	broad.mit.edu	37	15	90346521	90346521	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:90346521G>A	ENST00000300060.6	-	10	1831	c.1518C>T	c.(1516-1518)acC>acT	p.T506T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	506	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGTAGGCAAAGGTGTGGAGGT	0.627000													28	75					0	0	0.007291	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	64					0	0	0.000248	0	0
LIFR	3977	broad.mit.edu	37	5	38527372	38527372	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:38527372C>T	ENST00000263409.4	-	4	444	c.282G>A	c.(280-282)gaG>gaA	p.E94E	LIFR_ENST00000453190.2_Silent_p.E94E|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	94	Fibronectin type-III 1.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TACTGGTTTTCTCCAACTGAT	0.259000			T	PLAG1	salivary adenoma								21	41					0	0	0.002780	0	0
ALOX5	240	broad.mit.edu	37	10	45940956	45940956	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45940956C>T	ENST00000374391.2	+	14	1899	c.1845_splice	c.e14-1	p.L616_splice	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Splice_Site_p.L559_splice	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	616	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGGCCCTCAGCTGTTCCTGGG	0.552000													20	51					0	0	0.008871	0	0
TRIM25	7706	broad.mit.edu	37	17	54990975	54990975	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:54990975G>A	ENST00000316881.4	-	1	424	c.375C>T	c.(373-375)tcC>tcT	p.S125S	TRIM25_ENST00000537230.1_Silent_p.S125S	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	125					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CCTGACAGAAGGAGGCCATGC	0.692000													13	26					0	0	0.001855	0	0
RPTN	126638	broad.mit.edu	37	1	152129199	152129199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152129199C>T	ENST00000316073.3	-	3	440	c.376G>A	c.(376-378)Gag>Aag	p.E126K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	126	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTTCTTCCTCGTGCCTCTGT	0.547000													95	240					0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709250	128709250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:128709250G>A	ENST00000392665.2	-	2	1033	c.889C>T	c.(889-891)Cca>Tca	p.P297S	KCNJ1_ENST00000324036.3_Missense_Mutation_p.P297S|KCNJ1_ENST00000392664.2_Missense_Mutation_p.P316S|KCNJ1_ENST00000392666.1_Missense_Mutation_p.P297S|KCNJ1_ENST00000440599.2_Missense_Mutation_p.P297S	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	316					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACCTCCTCTGGGACATAGGAT	0.498000													24	20					0	0	0.003330	0	0
LGI1	9211	broad.mit.edu	37	10	95552551	95552551	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95552551G>A	ENST00000371418.4	+	6	815	c.555G>A	c.(553-555)gtG>gtA	p.V185V	LGI1_ENST00000371413.3_Silent_p.V185V|LGI1_ENST00000542308.1_Silent_p.V137V	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	185	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATGGCTAGTGGAATGGCTTG	0.468000													41	89					0	0	0.002222	0	0
RBM25	58517	broad.mit.edu	37	14	73570176	73570176	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:73570176A>C	ENST00000261973.7	+	10	1429	c.1144A>C	c.(1144-1146)Agt>Cgt	p.S382R	RBM25_ENST00000527432.1_Missense_Mutation_p.S382R	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	382	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAAGGATCGCAGTCGATCAAG	0.468000													8	32					0	0	0.006214	0	0
PIPSL	266971	broad.mit.edu	37	10	95720504	95720504	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95720504G>A	ENST00000480546.1	-	0	793					NR_002319.2																						CTCTTTCTGGGAAGCCCGCCG	0.443000													15	30					0	0	0.004990	0	0
OR51E2	81285	broad.mit.edu	37	11	4703487	4703487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4703487G>A	ENST00000396950.3	-	2	694	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAAAAGAGGGATCCGCGGAC	0.542000													18	50					0	0	0.007413	0	0
OR1J4	26219	broad.mit.edu	37	9	125282026	125282026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125282026G>A	ENST00000340750.1	+	1	607	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTCACAGTGGGACAGGCAGT	0.473000													22	24					0	0	0.001882	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438440	204438440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204438440G>A	ENST00000367187.3	-	3	1047	c.491C>T	c.(490-492)tCt>tTt	p.S164F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S164F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	164	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCCCAGATAGAAGCTCGGGG	0.562000													35	105					0	0	0.003271	0	0
SSPO	23145	broad.mit.edu	37	7	149490701	149490701	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:149490701C>T	ENST00000378016.2	+	0	6075							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCACTGTGCCCTACCTGGTG	0.647000													24	40					0	0	0.001786	0	0
LOC645752	645752	broad.mit.edu	37	15	78211617	78211617	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:78211617C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GCTGTTCCACCACAGAGGTCA	0.572000													22	67					0	0	0.002299	0	0
ENPEP	2028	broad.mit.edu	37	4	111431465	111431465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:111431465C>T	ENST00000265162.5	+	6	1601	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	420					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGATTTGCTTCTTTCTTTGAG	0.373000													26	50					0	0	0.007291	0	0
KIAA1430	57587	broad.mit.edu	37	4	186083970	186083970	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:186083970G>A	ENST00000458385.2	-	5	1700	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	527										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AAGCTGTACGGACATTAGGGG	0.443000													7	18					0	0	0.003080	0	0
HECW1	23072	broad.mit.edu	37	7	43484698	43484698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:43484698G>A	ENST00000395891.1	+	11	2532	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	HECW1_ENST00000453890.1_Missense_Mutation_p.G643S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	643					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGGCCAATGGCGCGGCCCA	0.716000													11	19					0	0	0.001368	0	0
TNR	7143	broad.mit.edu	37	1	175328779	175328779	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175328779C>T	ENST00000367674.1	-	15	3651	c.2943G>A	c.(2941-2943)gaG>gaA	p.E981E	TNR_ENST00000263525.2_Silent_p.E981E	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	981	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGACGTAGTTCTCCACCTCAC	0.522000													24	79					0	0	0.003954	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75480305	75480305	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:75480305G>A	ENST00000399449.3	-	0	951				BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA																							CCTGGCATGTGAATTTGGCTT	0.383000													14	41					0	0	0.004990	0	0
LCE5A	254910	broad.mit.edu	37	1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152484251C>T	ENST00000334269.2	+	2	417	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	81	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677000													15	42					0	0	0.001523	0	0
GNAO1	2775	broad.mit.edu	37	16	56374887	56374887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:56374887C>T	ENST00000262494.7	+	7	1125	c.865C>T	c.(865-867)Cct>Tct	p.P289S	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	289					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATCTGCTTTCCTGAATATAC	0.532000													107	196					0	0	0.003610	0	0
LGI1	9211	broad.mit.edu	37	10	95557002	95557002	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95557002C>T	ENST00000371418.4	+	8	1376	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.S324S	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	372					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.S372S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCCATCAATCCTTACACGCGT	0.413000													27	42					0	0	0.004656	0	0
EPHA6	285220	broad.mit.edu	37	3	97466357	97466357	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:97466357G>A	ENST00000389672.5	+	17	3257	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	978						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCAATACAAGAATAACTTCG	0.413000													11	21					0	0	0.000978	0	0
IFNB1	3456	broad.mit.edu	37	9	21077649	21077649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:21077649C>T	ENST00000380232.2	-	1	294	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	74					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GCGGCGTCCTCCTTCTGGAAC	0.468000													33	27					0	0	0.002096	0	0
TRIM31	11074	broad.mit.edu	37	6	30080208	30080208	+	Silent	SNP	G	G	A	rs151255204	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30080208G>A	ENST00000376734.3	-	2	500	c.375C>T	c.(373-375)tcC>tcT	p.S125S	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Silent_p.S125S	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	125						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGACATTATGGGATTTGTGGT	0.507000													28	69					0	0	0.001786	0	0
KIFC1	3833	broad.mit.edu	37	6	33373280	33373280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33373280C>T	ENST00000428849.2	+	7	1858	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	470	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGAGACTGTCCGGGACCTGCT	0.607000													20	17					0	0	0.008871	0	0
MGLL	11343	broad.mit.edu	37	3	127540652	127540652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:127540652C>T	ENST00000434178.2	-	2	906	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MGLL_ENST00000453507.2_Missense_Mutation_p.E14K|MGLL_ENST00000265052.5_Missense_Mutation_p.E14K|MGLL_ENST00000398104.1_Missense_Mutation_p.E4K			Q99685	MGLL_HUMAN	monoglyceride lipase	4					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGGGAACTTTCCTCTGGCATG	0.507000													41	108					0	0	0.003610	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004616	52004616	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52004616C>T	ENST00000291707.3	-	1	427	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	124	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATTTCCTCTCTCTACACAAA	0.478000													36	38					0	0	0.003755	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644347	37644347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:37644347G>A	ENST00000356958.4	-	5	712	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.L97F|ZNF585A_ENST00000355533.2_Missense_Mutation_p.L97F|ZNF585A_ENST00000392157.2_Missense_Mutation_p.L97F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCTGCAAGAACTTTCAGG	0.393000													39	52					0	0	0.006999	0	0
XIRP2	129446	broad.mit.edu	37	2	168102404	168102404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168102404C>T	ENST00000409195.1	+	9	4591	c.4502C>T	c.(4501-4503)tCt>tTt	p.S1501F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1501F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1279F|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1326					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTTCGATTCTATTATGGAA	0.388000													29	52					0	0	0.006320	0	0
TET2	54790	broad.mit.edu	37	4	106158304	106158304	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:106158304A>G	ENST00000540549.1	+	3	4065	c.3205A>G	c.(3205-3207)Acc>Gcc	p.T1069A	TET2_ENST00000394764.1_Missense_Mutation_p.T1069A|TET2_ENST00000305737.2_Missense_Mutation_p.T1069A|TET2_ENST00000545826.1_Missense_Mutation_p.T1069A|TET2_ENST00000380013.4_Missense_Mutation_p.T1069A|TET2_ENST00000413648.2_Missense_Mutation_p.T1069A|TET2_ENST00000513237.1_Missense_Mutation_p.T1090A			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1069					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T1069fs*13(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTAGACAAACCACTGCTGC	0.433000			"""Mis N, F"""		MDS								28	47					0	0	0.008361	0	0
OTX1	5013	broad.mit.edu	37	2	63282713	63282713	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:63282713G>A	ENST00000282549.2	+	5	603	c.327G>A	c.(325-327)aaG>aaA	p.K109K	OTX1_ENST00000366671.3_Silent_p.K109K	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	109						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCAGCCAAGAAGAAGTCCT	0.657000													11	22					0	0	0.008291	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789438	31789438	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:31789438G>A	ENST00000396556.2	-	5	1026	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.Q238*|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	302					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGCCCGCCTGGTGCACACTC	0.612000													115	104					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	21115835	21115835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:21115835G>A	ENST00000261383.3	-	16	2322	c.2323C>T	c.(2323-2325)Ctc>Ttc	p.L775F	DNAH3_ENST00000415178.1_Missense_Mutation_p.L775F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTGAAGGAGCAAGTTCCGG	0.463000													72	142					0	0	0.003610	0	0
ENPP5	59084	broad.mit.edu	37	6	46135864	46135864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46135864C>T	ENST00000371383.2	-	3	396	c.136G>A	c.(136-138)Gtt>Att	p.V46I	ENPP5_ENST00000230565.3_Missense_Mutation_p.V46I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	46						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GGCGTTGGAACTTTATATAAG	0.358000													11	40					0	0	0.008291	0	0
KCNB1	3745	broad.mit.edu	37	20	47991420	47991420	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:47991420T>C	ENST00000371741.4	-	2	843	c.677A>G	c.(676-678)aAc>aGc	p.N226S		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	226					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGCTGGGGGTTGTCTGTGGA	0.562000													25	47					0	0	0.004656	0	0
CACNA1E	777	broad.mit.edu	37	1	181689945	181689945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181689945C>T	ENST00000526775.1	+	15	2075	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S637L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S588L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S244L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S588L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S637L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S637L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	637					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTTCGGCAAATTTT	0.433000													5	28					0	0	0.001168	0	0
OR2T34	127068	broad.mit.edu	37	1	248737306	248737306	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248737306G>A	ENST00000328782.2	-	1	774	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACTATGATCATGTGGG	0.552000													29	83					0	0	0.002836	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166456	61166456	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61166456A>G	ENST00000382771.4	+	6	963	c.671A>G	c.(670-672)aAg>aGg	p.K224R	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	224					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTTCAAAATAAGCATCTCAGC	0.468000													47	57					0	0	0.003610	0	0
FSTL5	56884	broad.mit.edu	37	4	162463792	162463792	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:162463792T>C	ENST00000306100.5	-	9	1505	c.1069A>G	c.(1069-1071)Act>Gct	p.T357A	FSTL5_ENST00000427802.2_Missense_Mutation_p.T356A|FSTL5_ENST00000536695.1_Missense_Mutation_p.T356A|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Missense_Mutation_p.T356A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	357	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGACTGGCAGTTACCCCAGGC	0.443000													32	65					0	0	0.004289	0	0
GPX5	2880	broad.mit.edu	37	6	28501787	28501787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:28501787C>T	ENST00000412168.2	+	5	598	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAATCTATATCCTGGGACCCT	0.493000													66	208					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170150729	170150729	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:170150729T>C	ENST00000263816.3	-	6	866	c.581A>G	c.(580-582)gAg>gGg	p.E194G	LRP2_ENST00000443831.1_Missense_Mutation_p.E194G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	194	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGATACACTCTCCATTGCC	0.438000													32	80					0	0	0.004289	0	0
NYAP1	222950	broad.mit.edu	37	7	100087124	100087124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100087124G>A	ENST00000423930.1	+	4	1939	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	NYAP1_ENST00000454988.1_Missense_Mutation_p.G537R|NYAP1_ENST00000300179.2_Missense_Mutation_p.G594R			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	594																	GCAGGAGCAAGGGACCGATGG	0.637000													27	48					0	0	0.008361	0	0
GABRG1	2565	broad.mit.edu	37	4	46067502	46067502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:46067502C>T	ENST00000295452.4	-	4	588	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAAATTTTTCCAACCATATTA	0.348000													18	39					0	0	0.008871	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506358	6506358	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6506358G>A	ENST00000263125.5	-	13	1461	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L	PRKCQ_ENST00000539722.1_Silent_p.L329L|PRKCQ_ENST00000397176.2_Silent_p.L454L	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	454	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCACAAAAAAGAGGTTTTCCT	0.408000													83	179					0	0	0.003610	0	0
GABRA3	2556	broad.mit.edu	37	X	151424271	151424271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:151424271C>T	ENST00000370314.4	-	5	768	c.530G>A	c.(529-531)gGa>gAa	p.G177E	GABRA3_ENST00000370311.1_Missense_Mutation_p.G177E|GABRA3_ENST00000535043.1_Missense_Mutation_p.G177E	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	177					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGGAGGGTTCCGTTGTCCAC	0.478000													70	36					0	0	0.003610	0	0
NBPF12	149013	broad.mit.edu	37	1	146398314	146398314	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:146398314C>T	ENST00000442909.2	+	7	1136	c.300C>T	c.(298-300)caC>caT	p.H100H	NBPF12_ENST00000309471.8_Silent_p.H25H|NBPF12_ENST00000446760.2_Silent_p.H100H					neuroblastoma breakpoint family, member 12											ovary(2)	2						TCCTGGTTCACTCTCAGGAAC	0.478000													21	269					0	0	0.003330	0	0
SORCS3	22986	broad.mit.edu	37	10	107006990	107006990	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:107006990C>T	ENST00000369701.3	+	22	3233	c.3006C>T	c.(3004-3006)tcC>tcT	p.S1002S	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTTCCAGTCCCAGCTTTTAT	0.463000													16	24					0	0	0.003163	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													10	41					0	0	0.008291	0	0
ITGB8	3696	broad.mit.edu	37	7	20449394	20449394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:20449394C>T	ENST00000222573.3	+	13	2864	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	ITGB8_ENST00000537992.1_Missense_Mutation_p.S592L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	727					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTGTCAGCCTCAAAAAAGGTC	0.318000													29	66					0	0	0.005443	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603424	31603424	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31603424C>T	ENST00000376033.2	+	24	5673	c.5439C>T	c.(5437-5439)tcC>tcT	p.S1813S	PRRC2A_ENST00000376007.4_Silent_p.S1813S	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1813						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCCACAATCCAAGAACCTGG	0.597000													39	40					0	0	0.005524	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113719	117113719	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:117113719G>A	ENST00000310357.3	-	6	2388	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	GPRC6A_ENST00000530250.1_Silent_p.L614L|GPRC6A_ENST00000368549.3_Silent_p.L718L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	789					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAAGTAAATGAGCATGCCAA	0.363000													24	18					0	0	0.003330	0	0
SEPT4	5414	broad.mit.edu	37	17	56599381	56599381	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56599381G>A	ENST00000426861.1	-	6	773	c.687C>T	c.(685-687)atC>atT	p.I229I	SEPT4_ENST00000580844.1_Silent_p.I149I|SEPT4_ENST00000580809.1_Silent_p.I130I|SEPT4_ENST00000393086.1_Silent_p.I229I|SEPT4_ENST00000583114.1_Silent_p.I101I|SEPT4_ENST00000579371.1_Silent_p.I149I|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Silent_p.I240I|SEPT4_ENST00000457347.2_Silent_p.I263I|SEPT4_ENST00000317256.6_Silent_p.I229I|SEPT4_ENST00000317268.3_Silent_p.I248I	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	248					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTTGTCTTGGATGTTCTTTC	0.557000													25	62					0	0	0.003330	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849069	26849069	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26849069G>A	ENST00000376236.4	+	12	1646	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	397	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGTATATCAAGTATCTCTGCT	0.458000													63	106					0	0	0.003610	0	0
SH3BP5	9467	broad.mit.edu	37	3	15297698	15297698	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:15297698G>A	ENST00000383791.3	-	9	1483	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	SH3BP5_ENST00000426925.1_Silent_p.S264S|SH3BP5_ENST00000408919.3_Silent_p.S264S|SH3BP5_ENST00000253688.5_Silent_p.S264S|SH3BP5-AS1_ENST00000420195.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	421	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCCCTCAGGGGAGGtgctgc	0.522000													26	100					0	0	0.005443	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063609	58063609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:58063609C>T	ENST00000339762.6	-	1	6	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAGTAGTTCATCCATGACA	0.448000													18	19					0	0	0.007413	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	C	T	rs148726153		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2367371C>T	ENST00000301732.5	-	10	1724	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D342N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	342					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGAGGGGTCGCTGCGGGAC	0.622000													36	82					0	0	0.006999	0	0
TRPM2	7226	broad.mit.edu	37	21	45855045	45855045	+	Missense_Mutation	SNP	C	C	T	rs143528384		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45855045C>T	ENST00000397928.1	+	28	4451	c.4006C>T	c.(4006-4008)Cgc>Tgc	p.R1336C	TRPM2_ENST00000397932.2_Missense_Mutation_p.R1386C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1336C|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.R1282C	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1336						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R1336C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTGCGTGGGCGCGGGAGCCT	0.667000													23	74					0	0	0.005443	0	0
OPRM1	4988	broad.mit.edu	37	6	154411105	154411105	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:154411105G>A	ENST00000414028.2	+	2	485	c.435G>A	c.(433-435)gtG>gtA	p.V145V	OPRM1_ENST00000337049.4_Silent_p.V145V|OPRM1_ENST00000522236.1_Silent_p.V45V|OPRM1_ENST00000360422.4_Silent_p.V145V|OPRM1_ENST00000435918.2_Silent_p.V145V|OPRM1_ENST00000522555.1_Silent_p.V45V|OPRM1_ENST00000452687.2_Silent_p.V145V|OPRM1_ENST00000434900.2_Silent_p.V238V|OPRM1_ENST00000524163.1_Silent_p.V145V|OPRM1_ENST00000428397.2_Silent_p.V145V|OPRM1_ENST00000229768.5_Silent_p.V145V|OPRM1_ENST00000518759.1_Silent_p.V64V|OPRM1_ENST00000419506.2_Silent_p.V145V|OPRM1_ENST00000330432.7_Silent_p.V145V|OPRM1_ENST00000520708.1_Silent_p.V45V	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	145					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAAGATAGTGATCTCCATAG	0.473000													45	61					0	0	0.003610	0	0
ERGIC3	51614	broad.mit.edu	37	20	34129922	34129922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34129922G>A	ENST00000348547.2	+	1	153	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	ERGIC3_ENST00000357394.4_Missense_Mutation_p.G26R|ERGIC3_ENST00000279052.6_Missense_Mutation_p.G26R|ERGIC3_ENST00000447986.1_Missense_Mutation_p.G26R	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	26					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CAAGACCTGCGGGGGCGCCAC	0.701000													11	18					0	0	0.008291	0	0
TRIP13	9319	broad.mit.edu	37	5	901523	901523	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:901523G>A	ENST00000166345.3	+	5	868	c.512G>A	c.(511-513)tGg>tAg	p.W171*		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	171					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CTCATCACCTGGAACCGGGTG	0.423000													24	42					0	0	0.003954	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915018	94915018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:94915018C>T	ENST00000334708.3	-	2	158	c.94G>A	c.(94-96)Ggg>Agg	p.G32R	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	32					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGTTGAGGCCCCTGCAGACTT	0.547000													62	96					0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6696664	6696664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6696664C>T	ENST00000245907.6	-	22	2895	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	935					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTCTGATTCCTTCCGGCTAC	0.582000													49	144					0	0	0.003610	0	0
NFAT5	10725	broad.mit.edu	37	16	69725733	69725733	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:69725733T>A	ENST00000349945.1	+	14	3275	c.1723T>A	c.(1723-1725)Tca>Aca	p.S575T	NFAT5_ENST00000393742.2_Missense_Mutation_p.S575T|NFAT5_ENST00000566899.1_Missense_Mutation_p.S575T|NFAT5_ENST00000567239.1_Missense_Mutation_p.S668T|NFAT5_ENST00000354436.2_Missense_Mutation_p.S651T|NFAT5_ENST00000432919.1_Missense_Mutation_p.S669T	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	651					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCATCACCATCATCTTCCCA	0.408000													22	60					0	0	0.002299	0	0
MARCO	8685	broad.mit.edu	37	2	119739969	119739969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:119739969G>A	ENST00000541757.1	+	13	1192	c.812G>A	c.(811-813)gGa>gAa	p.G271E	MARCO_ENST00000327097.4_Missense_Mutation_p.G349E			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	349	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCTGAAAGGAAGCAAAGGG	0.572000													59	109					0	0	0.003610	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096921	36096921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:36096921G>A	ENST00000258840.6	-	34	5245	c.4855C>T	c.(4855-4857)Cag>Tag	p.Q1619*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.Q1572*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.Q1572*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.Q1585*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1572	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						gatctgatctggatacaggac	0.393000													14	30					0	0	0.007413	0	0
DCC	1630	broad.mit.edu	37	18	50278509	50278509	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:50278509C>T	ENST00000442544.2	+	2	793	c.177C>T	c.(175-177)ctC>ctT	p.L59L		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	59	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTCCTCCTCGACTGCTCCG	0.507000													25	56					0	0	0.003330	0	0
TPR	7175	broad.mit.edu	37	1	186308903	186308903	+	Splice_Site	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:186308903T>G	ENST00000367478.3	-	30	4318	c.4020_splice	c.e30-1	p.H1341_splice		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1341					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTACTAGATGCTAGAATAA	0.303000			T	NTRK1	papillary thyroid								19	43					0	0	0.002780	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282888	140282888	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:140282888G>A	ENST00000458420.3	+	16	2758	c.2568G>A	c.(2566-2568)cgG>cgA	p.R856R		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	856					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCGGGTCCGGATCGCCCACC	0.552000										HNSCC(16;0.037)			43	86					0	0	0.002852	0	0
ATP11A	23250	broad.mit.edu	37	13	113487281	113487281	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:113487281C>T	ENST00000487903.1	+	14	1591	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ATP11A_ENST00000375645.3_Silent_p.S501S|ATP11A_ENST00000283558.8_Silent_p.S501S|ATP11A_ENST00000375630.2_Silent_p.S501S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	501					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGGGGAAATCCTGTGTGTACA	0.612000													71	143					0	0	0.003610	0	0
RNF213	57674	broad.mit.edu	37	17	78320345	78320345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:78320345C>T	ENST00000582970.1	+	29	8353	c.8210C>T	c.(8209-8211)cCt>cTt	p.P2737L	RNF213_ENST00000336301.6_Missense_Mutation_p.P810L|RNF213_ENST00000508628.2_Missense_Mutation_p.P2786L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACGGCGTACCTCTGAGGAAA	0.527000													18	52					0	0	0.006122	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552809	50552809	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:50552809G>A	ENST00000262794.5	+	7	967		c.e7-1		MOV10L1_ENST00000395858.3_Splice_Site|MOV10L1_ENST00000540615.1_Splice_Site|MOV10L1_ENST00000545383.1_Splice_Site|MOV10L1_ENST00000395843.1_Splice_Site	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TATTTTTCCAGGAATAAAGGA	0.358000													24	39					0	0	0.002780	0	0
NEFM	4741	broad.mit.edu	37	8	24775965	24775965	+	Missense_Mutation	SNP	G	G	A	rs140175409	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24775965G>A	ENST00000221166.5	+	3	3379	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	NEFM_ENST00000437366.2_Missense_Mutation_p.G827E|NEFM_ENST00000433454.2_Missense_Mutation_p.G490E|NEFM_ENST00000518131.1_Missense_Mutation_p.G648E|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	866	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTGAGGGGGGAGATGGTGCT	0.448000													27	52					0	0	0.003954	0	0
LTBP2	4053	broad.mit.edu	37	14	75019658	75019658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75019658C>T	ENST00000261978.4	-	5	1515	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	LTBP2_ENST00000556690.1_Missense_Mutation_p.D377N|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	377					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGGTGGTGTCGCCCCTCTCA	0.587000													10	13					0	0	0.008291	0	0
NPAP1	23742	broad.mit.edu	37	15	24923809	24923809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:24923809C>T	ENST00000329468.2	+	1	3269	c.2795C>T	c.(2794-2796)tCa>tTa	p.S932L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACATCTCCTTCAGTCCAGCCA	0.498000													32	75					0	0	0.002836	0	0
TLR6	10333	broad.mit.edu	37	4	38829909	38829909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38829909C>T	ENST00000436693.2	-	2	1305	c.1186G>A	c.(1186-1188)Ggt>Agt	p.G396S	TLR6_ENST00000381950.1_Missense_Mutation_p.G396S	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	396					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCATGAGACCTACTTTGAAA	0.353000													36	61					0	0	0.003271	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755706	140755706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140755706G>A	ENST00000517434.1	+	1	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACCCAACGATTCGGACCT	0.677000													31	30					0	0	0.003610	0	0
SELE	6401	broad.mit.edu	37	1	169701903	169701903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169701903C>T	ENST00000333360.7	-	3	413	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	SELE_ENST00000367776.1_Missense_Mutation_p.E92K|SELE_ENST00000367775.1_Missense_Mutation_p.E92K|SELE_ENST00000367781.4_Missense_Mutation_p.E92K|SELE_ENST00000367780.4_Missense_Mutation_p.E92K|SELE_ENST00000367774.1_Missense_Mutation_p.E92K|SELE_ENST00000367782.4_Missense_Mutation_p.E92K|SELE_ENST00000367779.4_Missense_Mutation_p.E92K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.E92K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	92	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGGCTTCTTCTGTCAGAGGT	0.448000													13	35					0	0	0.001368	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140502505G>A	ENST00000194152.1	+	1	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000													78	77					0	0	0.003610	0	0
PTPN14	5784	broad.mit.edu	37	1	214557534	214557534	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:214557534G>C	ENST00000366956.5	-	13	1858	c.1664C>G	c.(1663-1665)aCg>aGg	p.T555R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637000													28	87					0	0	0.005443	0	0
DPPA2	151871	broad.mit.edu	37	3	109028175	109028175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:109028175G>A	ENST00000478945.1	-	4	430	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	62						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAAGTAGATGACCTAAGACA	0.398000													24	48					0	0	0.002780	0	0
C7	730	broad.mit.edu	37	5	40972530	40972530	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:40972530G>A	ENST00000313164.9	+	15	2267	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	636	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACCTGTACTGATGGATGGCA	0.413000													22	29					0	0	0.001523	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657767	20657767	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:20657767G>A	ENST00000428453.1	-	0	2191																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTCGGTCCCGATGGGTTCTC	0.537000													13	47					0	0	0.002450	0	0
MUSK	4593	broad.mit.edu	37	9	113562764	113562764	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:113562764G>A	ENST00000416899.2	+	13	2208	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	MUSK_ENST00000374448.4_Silent_p.Q702Q|MUSK_ENST00000189978.5_Silent_p.Q702Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	702	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGCTGAGCAGCTTTGCATTG	0.592000													74	62					0	0	0.003610	0	0
COL27A1	85301	broad.mit.edu	37	9	116930088	116930088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:116930088C>T	ENST00000356083.3	+	3	644	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	85	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCAGGCTCCCACGGGCAC	0.672000													45	37					0	0	0.003214	0	0
ACAN	176	broad.mit.edu	37	15	89403579	89403579	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:89403579G>A	ENST00000439576.2	+	13	7229	c.6855G>A	c.(6853-6855)gaG>gaA	p.E2285E	ACAN_ENST00000561243.1_Silent_p.E2285E|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Intron	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2285					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGTGCAGAGGAGCCCTGTG	0.607000													13	15					0	0	0.001855	0	0
C17orf74	201243	broad.mit.edu	37	17	7330779	7330779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7330779C>T	ENST00000333870.3	+	3	1543	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	490						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTTGAGGCCCTCTCTGCAC	0.597000													17	21					0	0	0.004007	0	0
TTF2	8458	broad.mit.edu	37	1	117617695	117617695	+	Silent	SNP	C	C	T	rs140361450		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:117617695C>T	ENST00000369466.3	+	5	533	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	163					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.F163F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCAGCTTTTCGATCAAAAGA	0.413000													18	62					0	0	0.004990	0	0
C1orf158	93190	broad.mit.edu	37	1	12815748	12815748	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12815748G>A	ENST00000288048.5	+	2	426	c.210G>A	c.(208-210)ggG>ggA	p.G70G	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTATGGGAAGAGGAAAG	0.522000													23	47					0	0	0.002780	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668757	8668757	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8668757G>A	ENST00000270328.4	-	4	713	c.447C>T	c.(445-447)atC>atT	p.I149I	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.I149I			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	149					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGTCTGCCACGATCAGGCCGT	0.552000													24	63					0	0	0.004656	0	0
NRDE2	55051	broad.mit.edu	37	14	90756620	90756620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:90756620G>A	ENST00000354366.3	-	10	2406	c.2174C>T	c.(2173-2175)tCa>tTa	p.S725L	NRDE2_ENST00000357904.3_Missense_Mutation_p.S494L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CTCTTTGCCTGAAAATAAAGG	0.502000													21	41					0	0	0.001882	0	0
HCFC1	3054	broad.mit.edu	37	X	153222162	153222162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:153222162G>A	ENST00000310441.7	-	15	3515	c.2549C>T	c.(2548-2550)cCc>cTc	p.P850L	HCFC1_ENST00000354233.3_Missense_Mutation_p.P781L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P850L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	850	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCCCATGGGCACAGTGCG	0.632000													41	20					0	0	0.006230	0	0
AKAP6	9472	broad.mit.edu	37	14	33016037	33016037	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:33016037C>T	ENST00000280979.4	+	4	2348	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	AKAP6_ENST00000557272.1_Silent_p.S726S|AKAP6_ENST00000557354.1_Silent_p.S726S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	726					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGAGGAGTCCAGTATGCCTC	0.473000													22	55					0	0	0.001882	0	0
MGP	4256	broad.mit.edu	37	12	15035175	15035175	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:15035175C>T	ENST00000539261.1	-	4	344	c.210G>A	c.(208-210)agG>agA	p.R70R	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.R95R	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	70	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CACAGGCTTCCCTATTGAGCT	0.458000													66	136					0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149241074	149241074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:149241074C>T	ENST00000404807.1	+	5	3043	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	MBD5_ENST00000407073.1_Intron			Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	977						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTTAGCTTTTCTCTCCAGTGA	0.493000													5	13					0	0	0.000602	0	0
TENM3	55714	broad.mit.edu	37	4	183672970	183672970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183672970G>A	ENST00000511685.1	+	20	3770	c.3647G>A	c.(3646-3648)aGa>aAa	p.R1216K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1216K|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CCAGCTCATAGATACTACCTT	0.428000													44	85					0	0	0.003610	0	0
EMR3	84658	broad.mit.edu	37	19	14758104	14758104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14758104C>T	ENST00000253673.5	-	8	871	c.771G>A	c.(769-771)atG>atA	p.M257I	EMR3_ENST00000344373.4_Missense_Mutation_p.M205I|EMR3_ENST00000599900.1_Missense_Mutation_p.M42I|EMR3_ENST00000443157.2_Missense_Mutation_p.M131I	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	257					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTTCTTATCCATCTCTTCAA	0.413000													29	59					0	0	0.005443	0	0
OR1A1	8383	broad.mit.edu	37	17	3118961	3118961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:3118961G>A	ENST00000304094.1	+	1	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCCTCCTGGGAGTTACTGGT	0.418000													27	22					0	0	0.003954	0	0
COL1A2	1278	broad.mit.edu	37	7	94052408	94052408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:94052408C>T	ENST00000297268.6	+	40	3014	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	848			Missing (in OI2A).		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)	GAGAAGGGTCCCTCTGGAGAG	0.502000										HNSCC(75;0.22)			31	76					0	0	0.003271	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:19553567G>A	ENST00000409832.3	+	1	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000													45	738					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166457	19166457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:19166457G>A	ENST00000375371.3	-	6	2177	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	719					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGGTTACAGGAGACAATTGT	0.557000													18	41					0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	138000107	138000107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:138000107G>A	ENST00000409968.1	+	10	2409	c.2231G>A	c.(2230-2232)aGt>aAt	p.S744N	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S713N|THSD7B_ENST00000272643.3_Missense_Mutation_p.S744N					thrombospondin, type I, domain containing 7B									p.S744I(1)|p.S713I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGCTTTCAGTGAGTGGACA	0.463000													23	41					0	0	0.005443	0	0
DSG4	147409	broad.mit.edu	37	18	28991327	28991327	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:28991327G>A	ENST00000359747.4	+	14	2357	c.2328G>A	c.(2326-2328)agG>agA	p.R776R	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.R757R|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	757					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			gggccgcaAGGAAGAGGAGCT	0.607000													30	47					0	0	0.006320	0	0
OR4C6	219432	broad.mit.edu	37	11	55432652	55432652	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55432652C>T	ENST00000314259.3	+	1	39	c.10C>T	c.(10-12)Caa>Taa	p.Q4*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q4*(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AATGGAAAATCAAAACAATGT	0.368000													28	54					0	0	0.007291	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455959	5455959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:5455959C>T	ENST00000222033.4	+	1	534	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	153	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACTGGGCAACCGCTCTCTGGG	0.692000													15	38					0	0	0.002450	0	0
ADCY6	112	broad.mit.edu	37	12	49165495	49165495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49165495C>T	ENST00000307885.4	-	18	3743	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ADCY6_ENST00000357869.3_Missense_Mutation_p.E964K|ADCY6_ENST00000550422.1_Missense_Mutation_p.E964K	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AAAAGTACCTCATCAAAGTCA	0.527000													14	38					0	0	0.004007	0	0
DHRS9	10170	broad.mit.edu	37	2	169938197	169938197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:169938197G>A	ENST00000327239.4	+	5	1610	c.106G>A	c.(106-108)Gga>Aga	p.G36R	DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000412271.1_Missense_Mutation_p.G36R|DHRS9_ENST00000357546.2_Missense_Mutation_p.G36R|DHRS9_ENST00000436483.2_Missense_Mutation_p.G36R|DHRS9_ENST00000432060.2_Missense_Mutation_p.G96R|DHRS9_ENST00000428522.1_Missense_Mutation_p.G36R|DHRS9_ENST00000602501.1_Missense_Mutation_p.G36R	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	36					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTTTATCACTGGATGTGACTC	0.418000													27	63					0	0	0.004656	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56431806C>T	ENST00000302969.2	+	1	669	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488000													38	96					0	0	0.007835	0	0
OBFC1	79991	broad.mit.edu	37	10	105642577	105642577	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:105642577G>A	ENST00000224950.3	-	10	1139	c.972C>T	c.(970-972)ttC>ttT	p.F324F	OBFC1_ENST00000369764.1_Silent_p.F324F|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	324					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGATGTGCAGGAAGTGACAGC	0.587000													15	36					0	0	0.006122	0	0
MEI1	150365	broad.mit.edu	37	22	42112052	42112052	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:42112052A>G	ENST00000401548.3	+	5	471	c.431A>G	c.(430-432)aAc>aGc	p.N144S	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	144							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TAGCTGTGTAACATGCCCTCC	0.512000													10	20					0	0	0.008291	0	0
BMPER	168667	broad.mit.edu	37	7	34182955	34182955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:34182955C>T	ENST00000297161.2	+	15	2233	c.1859C>T	c.(1858-1860)cCt>cTt	p.P620L	BMPER_ENST00000426693.1_Missense_Mutation_p.P620L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	620					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACTGGGAGCCTCAGCAGAAT	0.483000													11	44					0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152192312	152192312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152192312C>T	ENST00000368801.2	-	3	1868	c.1793G>A	c.(1792-1794)gGt>gAt	p.G598D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	598					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGTTGACCGTAGCCAGA	0.557000													123	353					0	0	0.003610	0	0
HNF1B	6928	broad.mit.edu	37	17	36093701	36093701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:36093701C>T	ENST00000225893.4	-	3	1019	c.658G>A	c.(658-660)Gat>Aat	p.D220N	HNF1B_ENST00000560016.1_Missense_Mutation_p.D220N|HNF1B_ENST00000561193.1_Missense_Mutation_p.D194N|HNF1B_ENST00000427275.2_Missense_Mutation_p.D194N	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	220					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D220H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CAGGCATCATCGGACTGCCCA	0.547000													163	367					0	0	0.003610	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16525148	16525148	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16525148G>A	ENST00000270747.3	-	16	2479	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	781					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTTTCGGAGGCGGGCGC	0.637000													28	62					0	0	0.007291	0	0
PXDN	7837	broad.mit.edu	37	2	1687882	1687882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1687882G>A	ENST00000252804.4	-	5	508	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	153					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGCTGGAACGAATCTGGGTC	0.408000													4	7					0	0	0.000248	0	0
PTX4	390667	broad.mit.edu	37	16	1537480	1537480	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:1537480C>T	ENST00000447419.2	-	2	658	c.633G>A	c.(631-633)caG>caA	p.Q211Q	PTX4_ENST00000293922.1_Silent_p.Q206Q|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	211						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCGGAGCTCCTGCCTGTCCC	0.711000													5	30					0	0	0.001984	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901284	24901284	+	Silent	SNP	G	G	A	rs148648017		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:24901284G>A	ENST00000313367.2	-	10	1426	c.975C>T	c.(973-975)acC>acT	p.T325T	OSBPL3_ENST00000396429.1_Silent_p.T325T|OSBPL3_ENST00000396431.1_Silent_p.T294T|OSBPL3_ENST00000353930.1_Silent_p.T325T|OSBPL3_ENST00000431825.2_Silent_p.T294T|OSBPL3_ENST00000352860.1_Silent_p.T294T|OSBPL3_ENST00000409069.1_Silent_p.T294T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	325					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTCTGATGAGGTTTCAGAGC	0.353000													67	113					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189875511	189875511	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:189875511T>C	ENST00000304636.3	+	50	4319	c.4149T>C	c.(4147-4149)agT>agC	p.S1383S	COL3A1_ENST00000317840.5_Silent_p.S1080S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1383	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATCAGGCCAGTGGAAATGTAA	0.453000													12	25					0	0	0.000978	0	0
CFAP54	144535	broad.mit.edu	37	12	97151344	97151344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:97151344C>T	ENST00000524981.3	+	25	3371	c.3371C>T	c.(3370-3372)tCa>tTa	p.S1124L				Q6ZTY8	CL063_HUMAN		1098								p.S1098*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAAAAATTTCAGGATCACCA	0.303000													7	10					0	0	0.003080	0	0
TRIM44	54765	broad.mit.edu	37	11	35685316	35685316	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:35685316T>C	ENST00000299413.5	+	1	964	c.657T>C	c.(655-657)ttT>ttC	p.F219F		NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	219						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ACGAAGCCTTTGAAGAATTAA	0.517000													42	79					0	0	0.002222	0	0
CERS2	29956	broad.mit.edu	37	1	150938687	150938687	+	Silent	SNP	T	T	C	rs147381709		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150938687T>C	ENST00000271688.6	-	11	1466	c.1080A>G	c.(1078-1080)gcA>gcG	p.A360A	CERS2_ENST00000561294.1_Intron|CERS2_ENST00000368954.5_Silent_p.A360A|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	360						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCGGCTCTTTGCTCCTCCCC	0.537000													33	117					0	0	0.003755	0	0
NUP210L	91181	broad.mit.edu	37	1	154125286	154125286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:154125286G>A	ENST00000368559.3	-	2	337	c.266C>T	c.(265-267)tCc>tTc	p.S89F	NUP210L_ENST00000271854.3_Missense_Mutation_p.S89F	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	89						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTTTTTGGGAACACAAGGT	0.413000													12	63					0	0	0.000978	0	0
UPF1	5976	broad.mit.edu	37	19	18971672	18971672	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:18971672T>C	ENST00000262803.5	+	17	2610	c.2338T>C	c.(2338-2340)Ttg>Ctg	p.L780L	UPF1_ENST00000599848.1_Silent_p.L791L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	791					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CACCACGAAGTTGCTGAAGGC	0.622000													6	21					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	21092965	21092965	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:21092965G>A	ENST00000261383.3	-	20	2960	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F	DNAH3_ENST00000415178.1_Silent_p.F987F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	987	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTTTCAACGAATTTGCCGA	0.443000													108	167					0	0	0.003610	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462877	37462877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:37462877C>T	ENST00000381792.2	-	18	2445	c.2305G>A	c.(2305-2307)Gat>Aat	p.D769N	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.D747N|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.D769N|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.D756N			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	756	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGACAGGCATCCTTCTTGCCC	0.612000													12	16					0	0	0.001523	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798800	57798800	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:57798800C>T	ENST00000302622.3	+	1	399	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCCTATGATCGTTATGTGGC	0.517000													37	58					0	0	0.003755	0	0
SHROOM3	57619	broad.mit.edu	37	4	77652048	77652048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:77652048G>A	ENST00000296043.6	+	4	1500	c.547G>A	c.(547-549)Ggt>Agt	p.G183S	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	183					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GATATCTCAGGGTATGATCGG	0.522000													54	136					0	0	0.003610	0	0
HIST1H4J	8363	broad.mit.edu	37	6	27792213	27792213	+	Silent	SNP	G	G	A	rs113345516		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:27792213G>A	ENST00000355057.1	+	1	330	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	0					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(1)|pancreas(1)	4						TTCGGTGGTTGAGCGTCCCTT	0.547000													11	43					0	0	0.007413	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733234	52733234	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:52733234T>A	ENST00000360540.5	-	7	1157	c.751A>T	c.(751-753)Att>Ttt	p.I251F	PCMTD1_ENST00000522514.1_Missense_Mutation_p.I251F|PCMTD1_ENST00000544451.1_Missense_Mutation_p.I175F|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	251						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTGCGTCGAATGTAAATACGA	0.378000													5	64					0	0	0.001168	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989613	15989613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15989613C>T	ENST00000221700.5	-	13	1626	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	CYP4F2_ENST00000592328.1_Missense_Mutation_p.G511R	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	511					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCCAAAGTCCGCCCTCTGCG	0.617000													9	16					0	0	0.008291	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801055	185801055	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185801055T>C	ENST00000302277.6	+	4	1526	c.932T>C	c.(931-933)tTt>tCt	p.F311S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	311						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTACCTTCATTTTGCAAGTTT	0.338000													15	28					0	0	0.004007	0	0
MYCT1	80177	broad.mit.edu	37	6	153043050	153043050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:153043050G>A	ENST00000367245.5	+	2	378	c.370G>A	c.(370-372)Gga>Aga	p.G124R	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	124						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAACAGAACTGGATTTTACCG	0.522000													36	40					0	0	0.004289	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212781	43212781	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:43212781A>G	ENST00000236040.4	-	14	2257	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	LEPRE1_ENST00000462474.1_Intron|LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000397054.3_Intron	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGACAAGGCAATGTGACCATA	0.567000													23	45					0	0	0.001882	0	0
ST18	9705	broad.mit.edu	37	8	53049210	53049210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:53049210C>T	ENST00000276480.7	-	19	2923	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	747						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAAAGGACATCCAGAAACACT	0.448000													8	20					0	0	0.008291	0	0
COL7A1	1294	broad.mit.edu	37	3	48608554	48608554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:48608554G>A	ENST00000328333.8	-	93	7251	c.7144C>T	c.(7144-7146)Cct>Tct	p.P2382S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2350S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2382	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGGGCCAGGAGGCCCAGGG	0.632000													21	53					0	0	0.003330	0	0
RRN3P2	653390	broad.mit.edu	37	16	29115515	29115515	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:29115515G>A	ENST00000564580.1	+	0	1448				CTB-134H23.3_ENST00000562618.1_RNA																							CACACTCTCGGAATCTCCTTT	0.473000													12	36					0	0	0.002450	0	0
NID1	4811	broad.mit.edu	37	1	236175237	236175237	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:236175237G>A	ENST00000264187.6	-	12	2593	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	837	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACGCAACGGAAGCCGTCTC	0.572000													33	57					0	0	0.002836	0	0
CD163	9332	broad.mit.edu	37	12	7651720	7651720	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7651720G>A	ENST00000359156.4	-	4	724	c.522C>T	c.(520-522)atC>atT	p.I174I	CD163_ENST00000432237.2_Silent_p.I174I|CD163_ENST00000396620.3_Silent_p.I174I|CD163_ENST00000541972.1_Silent_p.I162I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	174	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTGGAATTTGATCTCTATTC	0.428000													99	198					0	0	0.003610	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983078	140983078	+	Silent	SNP	C	C	T	rs146271957		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:140983078C>T	ENST00000298296.1	+	5	933	c.933C>T	c.(931-933)ttC>ttT	p.F311F	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Silent_p.F63F|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	311	MAGE 1.									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)					TGGCAGGGTTCGCGGATGTGC	0.612000													43	24					0	0	0.003610	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421228	62421228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:62421228G>A	ENST00000245663.4	-	2	1033	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S	ZBTB46_ENST00000395104.1_Missense_Mutation_p.P295S|ZBTB46_ENST00000302995.2_Missense_Mutation_p.P295S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GACGGCACCGGGGAGCTGGCC	0.627000													65	104					0	0	0.003610	0	0
LINS	55180	broad.mit.edu	37	15	101109521	101109521	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:101109521G>A	ENST00000314742.8	-	7	2418	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	732										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GATTATATGGGAAAAGATTTT	0.318000													31	67					0	0	0.002096	0	0
MERTK	10461	broad.mit.edu	37	2	112786332	112786332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:112786332G>A	ENST00000295408.4	+	19	3148	c.2891G>A	c.(2890-2892)aGg>aAg	p.R964K	MERTK_ENST00000409780.1_Missense_Mutation_p.R788K|MERTK_ENST00000421804.2_Missense_Mutation_p.R964K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	964					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGACTTGTTAGGAATGGGGTC	0.532000													10	14					0	0	0.006214	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92663851	92663851	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:92663851A>T	ENST00000318445.6	+	5	1380	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.Q389L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	389					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCTGCCAACCAGCTGCTTGGT	0.572000													47	119					0	0	0.003214	0	0
OR5B2	390190	broad.mit.edu	37	11	58189847	58189847	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58189847C>T	ENST00000302581.2	-	1	939	c.888G>A	c.(886-888)caG>caA	p.Q296Q		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTGGACTTCTC	0.403000													21	52					0	0	0.002780	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796756	43796756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:43796756G>A	ENST00000291532.3	-	11	2043	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.P360L|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.P362L|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.P447L	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	363	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGAAATCAAAGGGACGGCCGC	0.607000													70	170					0	0	0.003610	0	0
TDRD5	163589	broad.mit.edu	37	1	179660029	179660029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179660029C>T	ENST00000444136.1	+	18	3309	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	TDRD5_ENST00000294848.8_Missense_Mutation_p.S966F|TDRD5_ENST00000367614.1_Missense_Mutation_p.S966F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	966					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTAGCTACATCCAGGAGCCTC	0.507000													21	72					0	0	0.001882	0	0
PARVG	64098	broad.mit.edu	37	22	44602267	44602267	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:44602267G>A	ENST00000422871.1	+	14	1381	c.957G>A	c.(955-957)aaG>aaA	p.K319K	PARVG_ENST00000415224.1_Silent_p.K319K|PARVG_ENST00000444313.2_Silent_p.K319K	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	319					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACACGCAGAAGGCACACAGGG	0.627000													17	52					0	0	0.004990	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908943	158908943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158908943C>T	ENST00000368140.1	+	4	730	c.485C>T	c.(484-486)tCc>tTc	p.S162F	PYHIN1_ENST00000392254.2_Missense_Mutation_p.S162F|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S153F|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S153F|PYHIN1_ENST00000368135.4_Missense_Mutation_p.S162F	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	162					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTCGGCCTTCCTGCTCTGCA	0.488000													29	79					0	0	0.007291	0	0
ASUN	55726	broad.mit.edu	37	12	27089609	27089609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:27089609G>A	ENST00000261191.7	-	2	664	c.128C>T	c.(127-129)cCt>cTt	p.P43L	ASUN_ENST00000539625.1_Intron	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	43					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GGGGGCCAAAGGAATGATTCC	0.398000													13	39					0	0	0.002450	0	0
BARHL2	343472	broad.mit.edu	37	1	91180111	91180111	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:91180111G>A	ENST00000370445.4	-	2	869	c.828C>T	c.(826-828)gtC>gtT	p.V276V		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	276						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACCAGGTCTTGACTTGGGTGT	0.532000													32	86					0	0	0.003271	0	0
RYR1	6261	broad.mit.edu	37	19	39038895	39038895	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:39038895C>T	ENST00000355481.4	+	88	12233	c.12102C>T	c.(12100-12102)atC>atT	p.I4034I	RYR1_ENST00000360985.3_Silent_p.I4034I|RYR1_ENST00000359596.3_Silent_p.I4039I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4039					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGCATGATCGCCCGGCAGA	0.577000													19	16					0	0	0.001882	0	0
KCNG4	93107	broad.mit.edu	37	16	84256623	84256623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:84256623C>T	ENST00000308251.4	-	3	828	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGAGAGCATTCGCCCTGCGGG	0.557000													5	16					0	0	0.000602	0	0
WASH6P	653440	broad.mit.edu	37	X	155255094	155255094	+	RNA	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:155255094T>C	ENST00000285718.7	+	0	1399				WASH6P_ENST00000461007.1_RNA																							TGCTCTGACATGGACACAGCC	0.617000													5	11					0	0	0.001168	0	0
OR2T3	343173	broad.mit.edu	37	1	248637404	248637404	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248637404C>T	ENST00000359594.2	+	1	778	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCACATGATCATAGTGCTGC	0.547000													13	212					0	0	0.004007	0	0
NRP2	8828	broad.mit.edu	37	2	206608133	206608133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:206608133G>A	ENST00000360409.3	+	9	2289	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S	NRP2_ENST00000357118.4_Missense_Mutation_p.G500S|NRP2_ENST00000417189.1_Missense_Mutation_p.G500S|NRP2_ENST00000540178.1_Missense_Mutation_p.G500S|NRP2_ENST00000540841.1_Missense_Mutation_p.G500S|NRP2_ENST00000412873.2_Missense_Mutation_p.G500S|NRP2_ENST00000355117.4_Missense_Mutation_p.G500S|NRP2_ENST00000272849.3_Missense_Mutation_p.G500S|NRP2_ENST00000357785.5_Missense_Mutation_p.G500S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	500	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G500C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GACAGTGAAAGGTGTCATCAT	0.577000													27	56					0	0	0.006320	0	0
CDK10	8558	broad.mit.edu	37	16	89761730	89761730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89761730C>T	ENST00000331006.8	+	11	2562	c.821C>T	c.(820-822)tCc>tTc	p.S274F	CDK10_ENST00000505473.1_Missense_Mutation_p.S250F|CDK10_ENST00000353379.7_Missense_Mutation_p.S321F			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	321	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGGAGAGCTCCTATTTCAAG	0.642000													45	86					0	0	0.003610	0	0
M1AP	130951	broad.mit.edu	37	2	74867172	74867172	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74867172G>A	ENST00000290536.5	-	2	347	c.231C>T	c.(229-231)ctC>ctT	p.L77L	M1AP_ENST00000409585.1_Silent_p.L77L|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.L77L	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CCACAAAAGGGAGGATGCACT	0.403000													22	41					0	0	0.003954	0	0
SPPL2B	56928	broad.mit.edu	37	19	2353125	2353125	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:2353125G>A	ENST00000452401.2	+	0	1837				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCATGCGGGAGCCTGGG	0.711000													13	21					0	0	0.001368	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:11671833C>T	ENST00000262442.3	+	37	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2412S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2412					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAAGTTTCCTTCCCAAGG	0.498000													26	23					0	0	0.003954	0	0
PKD2	5311	broad.mit.edu	37	4	88959629	88959629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:88959629C>T	ENST00000237596.2	+	4	1136	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	357						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GATAGGGCTCCCTTTGGGCCC	0.458000													29	62					0	0	0.004289	0	0
PIK3CB	5291	broad.mit.edu	37	3	138456620	138456620	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:138456620A>G	ENST00000477593.1	-	5	803	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y244H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	244	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACATAATCATAGGGGCTAACT	0.353000													165	342					0	0	0.003610	0	0
THNSL2	55258	broad.mit.edu	37	2	88478479	88478479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:88478479C>T	ENST00000324166.5	+	4	2440	c.749C>T	c.(748-750)cCc>cTc	p.P250L	THNSL2_ENST00000343544.4_Missense_Mutation_p.P250L|THNSL2_ENST00000358591.2_Missense_Mutation_p.P250L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.P250L|THNSL2_ENST00000449349.1_Missense_Mutation_p.P218L|THNSL2_ENST00000402102.1_Missense_Mutation_p.P250L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	250					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GACACACATCCCCTACCCCTG	0.557000													55	118					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154379691	154379691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:154379691C>T	ENST00000406326.1	+	6	1362	c.959C>T	c.(958-960)cCa>cTa	p.P320L	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGCACTGTCCATTGTCATAC	0.607000													28	96					0	0	0.004656	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810423	1810423	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:1810423C>T	ENST00000250894.4	+	12	1501	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V	MAPK8IP3_ENST00000356010.5_Silent_p.V442V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	448					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TTGCCAAGGTCGACCAGCTGT	0.557000													38	79					0	0	0.004878	0	0
DNAH9	1770	broad.mit.edu	37	17	11686984	11686984	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:11686984C>T	ENST00000262442.3	+	40	7808	c.7740C>T	c.(7738-7740)tcC>tcT	p.S2580S	DNAH9_ENST00000454412.2_Silent_p.S2580S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2580	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCAAGCTGTCCCTAAAGGAGA	0.532000													11	10					0	0	0.001368	0	0
TSHR	7253	broad.mit.edu	37	14	81610068	81610068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:81610068C>T	ENST00000541158.2	+	11	1988	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	TSHR_ENST00000298171.2_Missense_Mutation_p.P556S|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	556					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCCCTGCTTCCTTTGGTGGG	0.552000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						27	65					0	0	0.006320	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794068	14794068	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:14794068C>T	ENST00000261170.3	-	18	2152	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	672	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCAGGATGATCTCCTGTGCGA	0.512000													30	53					0	0	0.008361	0	0
LOX	4015	broad.mit.edu	37	5	121409765	121409765	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:121409765T>C	ENST00000231004.4	-	4	1277	c.978A>G	c.(976-978)gaA>gaG	p.E326E	SRFBP1_ENST00000504881.1_Intron|LOX_ENST00000513319.1_5'UTR	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	326	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AGGATGTGTCTTCAAGACAGA	0.493000													71	85					0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35445882	35445882	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:35445882T>A	ENST00000353139.5	-	55	7500	c.7019A>T	c.(7018-7020)cAa>cTa	p.Q2340L	ACACA_ENST00000361253.5_Missense_Mutation_p.Q429L|ACACA_ENST00000360679.3_Missense_Mutation_p.Q2245L|ACACA_ENST00000335166.5_Missense_Mutation_p.Q2225L|ACACA_ENST00000394406.2_Missense_Mutation_p.Q2303L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2303					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGCGGATTTGCTTGAGGAC	0.463000													88	169					0	0	0.003610	0	0
GFRAL	389400	broad.mit.edu	37	6	55216070	55216070	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:55216070C>T	ENST00000340465.2	+	5	476	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	130						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATGTGGTCCTGTTTGGAAG	0.443000													70	128					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73849889	73849889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:73849889C>T	ENST00000523207.1	+	3	2887	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	767					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGAGACAGACCCTTGCTGGG	0.562000													33	56					0	0	0.002445	0	0
TGFBR1	7046	broad.mit.edu	37	9	101894867	101894867	+	Silent	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:101894867A>T	ENST00000374994.4	+	3	537	c.420A>T	c.(418-420)tcA>tcT	p.S140S	TGFBR1_ENST00000374990.2_Intron|TGFBR1_ENST00000552516.1_Silent_p.S144S|TGFBR1_ENST00000550253.1_Silent_p.S71S	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	140					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCATCTCACTCATGTTGA	0.488000													39	28					0	0	0.003610	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575308	86575308	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:86575308A>G	ENST00000322911.6	-	7	723	c.673T>C	c.(673-675)Ttc>Ctc	p.F225L	MTHFSD_ENST00000360900.6_Missense_Mutation_p.F226L|MTHFSD_ENST00000546093.1_Missense_Mutation_p.F63L|MTHFSD_ENST00000543303.2_Missense_Mutation_p.F225L|MTHFSD_ENST00000381214.5_Missense_Mutation_p.F226L	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	226					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CCCACCTTGAACCAGGTGATT	0.557000													10	32					0	0	0.006214	0	0
SIRPG	55423	broad.mit.edu	37	20	1629935	1629935	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:1629935G>A	ENST00000381580.1	-	2	273	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	SIRPG_ENST00000344103.4_Silent_p.L65L|SIRPG_ENST00000381583.2_Silent_p.L65L|SIRPG_ENST00000216927.4_Silent_p.L65L|SIRPG_ENST00000303415.3_Silent_p.L65L			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	65	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGAACCACAGGACGGGTCCC	0.517000													31	57					0	0	0.002445	0	0
OR4K13	390433	broad.mit.edu	37	14	20502402	20502402	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20502402A>G	ENST00000315693.2	-	1	517	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTCTATAACATTGGGACCAC	0.483000													41	90					0	0	0.006999	0	0
UBN1	29855	broad.mit.edu	37	16	4924614	4924614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:4924614C>T	ENST00000396658.4	+	14	2906	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	UBN1_ENST00000545171.1_Missense_Mutation_p.P735S|UBN1_ENST00000590769.1_Missense_Mutation_p.P735S|UBN1_ENST00000262376.6_Missense_Mutation_p.P735S	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	735					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCTGCAGTCACCCCTCAATTT	0.512000													70	165					0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594848	31594848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31594848C>T	ENST00000376033.2	+	11	1397	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P388L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	388	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCCACTCCTAAGACGGCC	0.652000													24	71					0	0	0.003330	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48556362	48556362	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48556362A>G	ENST00000354276.3	-	16	1799	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.L491P|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.L491P|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.L501P|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	491	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGTGTCAGCAAGCTTGAATGT	0.418000													31	22					0	0	0.002445	0	0
YLPM1	56252	broad.mit.edu	37	14	75265468	75265468	+	Silent	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75265468A>C	ENST00000325680.7	+	5	3592	c.3468A>C	c.(3466-3468)ggA>ggC	p.G1156G	YLPM1_ENST00000238571.3_Silent_p.G961G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	961	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAAAGGGGACTGGGAAGAT	0.547000													10	24					0	0	0.000978	0	0
BNIP3L	665	broad.mit.edu	37	8	26248922	26248922	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:26248922A>T	ENST00000380629.2	+	2	497	c.264A>T	c.(262-264)agA>agT	p.R88S	BNIP3L_ENST00000518611.1_Missense_Mutation_p.R48S|BNIP3L_ENST00000520409.1_Missense_Mutation_p.R48S|BNIP3L_ENST00000523515.1_Missense_Mutation_p.R48S	NM_004331.2	NP_004322.1	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3-like	88					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		GTAGTTCCAGAGGCAGTTCTC	0.473000													6	23					0	0	0.001168	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916703	10916703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10916703G>A	ENST00000254488.2	+	6	880	c.814G>A	c.(814-816)Ggg>Agg	p.G272R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	272					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCTGATACGAGGGGTCACGTT	0.562000													59	192					0	0	0.003610	0	0
LILRA4	23547	broad.mit.edu	37	19	54849947	54849947	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:54849947G>A	ENST00000291759.4	-	3	131	c.75C>T	c.(73-75)aaC>aaT	p.N25N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	25	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTTGGGTAGGTTTTCTGGAA	0.602000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	18	14					0	0	0.007413	0	0
PIDD	55367	broad.mit.edu	37	11	803367	803367	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:803367G>A	ENST00000347755.5	-	3	657	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PIDD_ENST00000411829.2_Silent_p.A172A	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	172					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGAAGGTGAGGGCGGGGAGGG	0.652000													31	49					0	0	0.004878	0	0
COL4A5	1287	broad.mit.edu	37	X	107826129	107826129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:107826129C>T	ENST00000328300.6	+	17	1196	c.952C>T	c.(952-954)Cct>Tct	p.P318S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P318S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	318	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTGGTGATCCTGGTTACCC	0.398000									Alport syndrome with Diffuse Leiomyomatosis				51	25					0	0	0.003610	0	0
OAS2	4939	broad.mit.edu	37	12	113425019	113425019	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:113425019C>T	ENST00000392583.2	+	2	561	c.354C>T	c.(352-354)ttC>ttT	p.F118F	OAS2_ENST00000342315.4_Silent_p.F118F|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.F118F	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	118	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACAATTTCGAGATCCAGA	0.458000													25	18					0	0	0.003954	0	0
LAMA5	3911	broad.mit.edu	37	20	60891788	60891788	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:60891788G>A	ENST00000252999.3	-	57	7761	c.7695C>T	c.(7693-7695)ctC>ctT	p.L2565L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2565	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGGCCAGGAGCTGCTGGG	0.682000													6	16					0	0	0.004482	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307181	120307181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:120307181G>A	ENST00000369406.3	-	2	222	c.173C>T	c.(172-174)gCc>gTc	p.A58V	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Missense_Mutation_p.A58V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	58					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GACCTCCAGGGCCAGGATGCC	0.517000													155	334					0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50530730	50530730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:50530730C>T	ENST00000374144.3	+	3	428	c.140C>T	c.(139-141)tCc>tTc	p.S47F	C10orf71_ENST00000323868.4_Missense_Mutation_p.S47F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	47										endometrium(1)	1						GAGGACACATCCTTCCATGAC	0.567000													6	10					0	0	0.001168	0	0
INADL	10207	broad.mit.edu	37	1	62582327	62582327	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:62582327G>A	ENST00000371158.2	+	36	4893	c.4779G>A	c.(4777-4779)caG>caA	p.Q1593Q	INADL_ENST00000543708.1_Silent_p.Q407Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1593	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGCCTCACAGGAGACAGTGG	0.512000													12	31					0	0	0.001368	0	0
CD163L1	283316	broad.mit.edu	37	12	7586232	7586232	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7586232C>T	ENST00000313599.3	-	3	240	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CD163L1_ENST00000416109.2_Silent_p.V61V|CD163L1_ENST00000396630.1_Silent_p.V61V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	61	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTCACCTCCACTGTCCCAG	0.483000													36	80					0	0	0.004878	0	0
CFTR	1080	broad.mit.edu	37	7	117149167	117149167	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:117149167A>T	ENST00000003084.6	+	3	376	c.244A>T	c.(244-246)Atg>Ttg	p.M82L	CFTR_ENST00000454343.1_Missense_Mutation_p.M82L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	82	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGGAGATTTATGTTCTATGG	0.318000									Cystic Fibrosis				50	100					0	0	0.003610	0	0
ADARB2	105	broad.mit.edu	37	10	1229275	1229275	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:1229275G>T	ENST00000381312.1	-	10	2403	c.2078C>A	c.(2077-2079)cCc>cAc	p.P693H	ADARB2_ENST00000381305.1_Missense_Mutation_p.P95H|ADARB2_ENST00000381310.3_Missense_Mutation_p.P202H	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	693	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTACATGGAGGGCGTGTCTCC	0.582000													20	35					7.87624e-14	1.63373e-13	0.002780	1	0
POMT1	10585	broad.mit.edu	37	9	134385344	134385344	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:134385344C>T	ENST00000423007.1	+	8	1102	c.660C>T	c.(658-660)gtC>gtT	p.V220V	POMT1_ENST00000419118.2_Silent_p.V68V|POMT1_ENST00000402686.3_Silent_p.V220V|POMT1_ENST00000404875.2_Silent_p.V103V|POMT1_ENST00000341012.7_Silent_p.V166V|POMT1_ENST00000372228.3_Silent_p.V220V|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.V190V	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	220					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCTGTCCATGCCTGGC	0.522000													40	54					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40937739	40937739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:40937739G>A	ENST00000313164.9	+	6	873	c.514G>A	c.(514-516)Gat>Aat	p.D172N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	172	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTTTAGTGGGGATGGAAAAGA	0.403000													15	22					0	0	0.002450	0	0
FREM1	158326	broad.mit.edu	37	9	14819410	14819410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:14819410C>T	ENST00000380881.4	-	15	3186	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R	FREM1_ENST00000380880.3_Missense_Mutation_p.G790R|FREM1_ENST00000422223.2_Missense_Mutation_p.G790R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	790					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTGACCTCCCTCAGTCACT	0.468000													4	13					0	0	0.001168	0	0
OTOGL	283310	broad.mit.edu	37	12	80663925	80663925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:80663925C>T	ENST00000458043.2	+	22	2488	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P828S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGCAACGCCCTCTGCTGG	0.388000											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	6	15					0	0	0.001168	0	0
SMURF1	57154	broad.mit.edu	37	7	98652473	98652473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:98652473C>T	ENST00000361125.1	-	6	738	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R140Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	140					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TATTCTGTCTCGTGTCTGTAA	0.438000													69	110					0	0	0.003610	0	0
ADTRP	84830	broad.mit.edu	37	6	11723584	11723584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:11723584C>T	ENST00000414691.3	-	5	1066	c.656G>A	c.(655-657)tGg>tAg	p.W219*	ADTRP_ENST00000229583.5_Nonsense_Mutation_p.W237*|ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000379413.2_Nonsense_Mutation_p.W219*	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	219						integral to membrane											ACACTGACCCCATTTCCAGTG	0.493000													42	182					0	0	0.003610	0	0
BOLL	66037	broad.mit.edu	37	2	198640397	198640397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:198640397C>T	ENST00000321801.7	-	5	950	c.380G>A	c.(379-381)gGg>gAg	p.G127E	BOLL_ENST00000430004.1_Missense_Mutation_p.G115E|BOLL_ENST00000433157.1_Missense_Mutation_p.G115E|BOLL_ENST00000282278.8_Intron|BOLL_ENST00000392296.4_Missense_Mutation_p.G115E	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	115					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGAGGGATCCCTACTTGTTG	0.244000													22	79					0	0	0.008361	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184259	26184259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:26184259C>T	ENST00000356530.3	+	1	302	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	79					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGCGAGGCTTCCCGCCTGGCG	0.617000													86	84					0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21494463	21494463	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21494463G>A	ENST00000313654.9	+	57	7660	c.7419G>A	c.(7417-7419)gtG>gtA	p.V2473V	LAMA3_ENST00000399516.3_Silent_p.V2417V|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.V808V|LAMA3_ENST00000269217.6_Silent_p.V864V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2473	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCCAAGTGGACCAGATCT	0.527000													23	37					0	0	0.002780	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20296445C>T	ENST00000315947.1	+	1	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000													33	116					0	0	0.002836	0	0
TANC1	85461	broad.mit.edu	37	2	160076290	160076290	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:160076290T>A	ENST00000263635.6	+	22	3827	c.3590T>A	c.(3589-3591)cTg>cAg	p.L1197Q	TANC1_ENST00000454300.1_Missense_Mutation_p.L1091Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1197						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTCCAGTATCTGGTTGAAGAA	0.532000													22	57					0	0	0.002299	0	0
FAM86A	196483	broad.mit.edu	37	16	5139114	5139114	+	Nonsense_Mutation	SNP	C	C	A	rs140633124		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:5139114C>A	ENST00000427587.4	-	7	954	c.886G>T	c.(886-888)Gag>Tag	p.E296*	FAM86A_ENST00000458008.4_Nonsense_Mutation_p.E262*|FAM86A_ENST00000587133.1_Nonsense_Mutation_p.E235*	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	296										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCACCTAGCTCGGTGGTGAAC	0.662000													57	100					4.67498e-28	9.77411e-28	0.003610	1	0
HTR5A	3361	broad.mit.edu	37	7	154863051	154863051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:154863051G>A	ENST00000287907.2	+	1	1018	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	AC093726.4_ENST00000543018.1_5'UTR|AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	148						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCGCCACATGGAATACACGCT	0.622000													16	36					0	0	0.001523	0	0
TMUB2	79089	broad.mit.edu	37	17	42266947	42266947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:42266947C>T	ENST00000319511.6	+	2	1183	c.533C>T	c.(532-534)gCc>gTc	p.A178V	TMUB2_ENST00000538716.2_Missense_Mutation_p.A198V|TMUB2_ENST00000587989.1_Missense_Mutation_p.A198V|TMUB2_ENST00000446571.3_Missense_Mutation_p.A141V|TMUB2_ENST00000357984.3_Missense_Mutation_p.A178V|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Intron|TMUB2_ENST00000589856.1_Missense_Mutation_p.A178V|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589785.1_Missense_Mutation_p.A178V|TMUB2_ENST00000592825.1_Intron	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	198	Ubiquitin-like.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCGTGGGTGCCCTGAAGAGG	0.612000													17	30					0	0	0.006122	0	0
OR4N4	283694	broad.mit.edu	37	15	22383168	22383168	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22383168G>A	ENST00000328795.4	+	1	787	c.696G>A	c.(694-696)ggG>ggA	p.G232G	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCTGAAGGGAAGAACAAGG	0.498000													38	128					0	0	0.004289	0	0
ITIH5	80760	broad.mit.edu	37	10	7628007	7628007	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:7628007A>C	ENST00000256861.6	-	8	1043	c.965T>G	c.(964-966)cTc>cGc	p.L322R	ITIH5_ENST00000397146.2_Missense_Mutation_p.L322R|ITIH5_ENST00000397145.2_Missense_Mutation_p.L322R|ITIH5_ENST00000446830.2_Missense_Mutation_p.L104R|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.L108R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	322	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGGTCATGGAGAATTGTGAA	0.488000													12	39					0	0	0.002450	0	0
MAEL	84944	broad.mit.edu	37	1	166973437	166973437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:166973437C>T	ENST00000367872.4	+	6	788	c.544C>T	c.(544-546)Cct>Tct	p.P182S	MAEL_ENST00000367870.2_Missense_Mutation_p.P151S|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	182					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCACAAGATTCCTATTTCAAA	0.388000													36	107					0	0	0.006230	0	0
POTEM	641455	broad.mit.edu	37	14	20019999	20019999	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20019999C>T	ENST00000551509.1	-	1	273	c.222G>A	c.(220-222)ggG>ggA	p.G74G		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	74										endometrium(4)|kidney(1)|lung(4)	9						TCTTGCCGCTCCCCCTGCACC	0.587000													48	598					0	0	0.003610	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948416	82948416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:82948416C>T	ENST00000274341.4	-	3	1178	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	HAPLN1_ENST00000514416.1_Missense_Mutation_p.G110S	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	110	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G110C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AACACTCTACCCTGGTAGCCT	0.438000													34	82					0	0	0.003271	0	0
CEP290	80184	broad.mit.edu	37	12	88478622	88478622	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:88478622T>C	ENST00000552810.1	-	35	4788	c.4445A>G	c.(4444-4446)aAa>aGa	p.K1482R	CEP290_ENST00000309041.7_Missense_Mutation_p.K1484R|CEP290_ENST00000397838.3_Missense_Mutation_p.K542R|CEP290_ENST00000547691.2_Missense_Mutation_p.K542R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1482					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTTTCTCTTTTAGTTTCTG	0.299000													6	3					0	0	0.001168	0	0
APOL4	80832	broad.mit.edu	37	22	36587653	36587653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:36587653C>T	ENST00000332987.1	-	7	936	c.514G>A	c.(514-516)Gta>Ata	p.V172I	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.V175I|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	176					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCCAGCCCTACCCCAGCTGCA	0.572000													10	5					0	0	0.006214	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919307	54919307	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:54919307G>A	ENST00000474759.1	+	22	1960		c.e22-1		CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGACCCCCAGGCCTGCATGA	0.502000													30	46					0	0	0.008361	0	0
COG5	10466	broad.mit.edu	37	7	106871079	106871079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:106871079G>A	ENST00000393603.2	-	19	2513	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	COG5_ENST00000297135.3_Missense_Mutation_p.R748W|COG5_ENST00000347053.3_Missense_Mutation_p.R727W	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	727					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTCAGCATCCGATAGGACTTT	0.368000													70	140					0	0	0.003610	0	0
EBF3	253738	broad.mit.edu	37	10	131646670	131646670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:131646670C>T	ENST00000368648.3	-	11	1159	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	EBF3_ENST00000355311.5_Missense_Mutation_p.E372K	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTAACCTTTCGGGATCACCC	0.532000													48	88					0	0	0.003610	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43762487C>T	ENST00000244293.7	-	4	897	c.831G>A	c.(829-831)ggG>ggA	p.G277G	PSG9_ENST00000593948.1_Silent_p.G277G|PSG9_ENST00000443718.3_Silent_p.G277G|PSG9_ENST00000418820.2_Silent_p.G277G|PSG9_ENST00000596730.1_Silent_p.G184G|PSG9_ENST00000291752.5_Silent_p.G184G|PSG9_ENST00000270077.3_Silent_p.G370G			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	277	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000													81	69					0	0	0.003610	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734282	28734282	+	RNA	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:28734282T>C	ENST00000550043.1	+	0	687																											TCTCATTTGCTGGCCATCGGA	0.473000													14	27					0	0	0.003163	0	0
FLT4	2324	broad.mit.edu	37	5	180050958	180050958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:180050958C>T	ENST00000261937.6	-	11	1603	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E509K|FLT4_ENST00000502649.1_Missense_Mutation_p.E509K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	509	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCACAAACTCGGTCCAGGTG	0.617000													37	33					0	0	0.006230	0	0
ING5	84289	broad.mit.edu	37	2	242644072	242644072	+	Silent	SNP	C	C	T	rs139118032	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:242644072C>T	ENST00000313552.6	+	2	68	c.42C>T	c.(40-42)atC>atT	p.I14I	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.I14I	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	14					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTCAGGTATCGAGAACCTTC	0.468000													42	107					0	0	0.003610	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806746	15806746	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15806746G>A	ENST00000550308.1	+	10	1496	c.1115_splice	c.e10-1	p.W372_splice	CYP4F12_ENST00000324632.9_Splice_Site_p.W372_splice	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTTTCCTTAGGGACGACCTGG	0.517000													27	59					0	0	0.004289	0	0
SRBD1	55133	broad.mit.edu	37	2	45620195	45620195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:45620195G>A	ENST00000263736.4	-	20	2649	c.2587C>T	c.(2587-2589)Ctt>Ttt	p.L863F	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.L382F	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	863					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCCTTTTCAAGGAATGAATTT	0.393000													39	70					0	0	0.005524	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967671	161967671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:161967671G>A	ENST00000294794.3	-	6	1841	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	OLFML2B_ENST00000367940.2_Missense_Mutation_p.T474I	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	473										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGGCAGGGGTTGTTCCCCA	0.562000													56	177					0	0	0.003610	0	0
RANGAP1	5905	broad.mit.edu	37	22	41670628	41670628	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:41670628G>A	ENST00000455915.2	-	2	1685	c.216C>T	c.(214-216)gcC>gcT	p.A72A	RANGAP1_ENST00000407260.4_Silent_p.A62A|RANGAP1_ENST00000405486.1_Silent_p.A72A|RANGAP1_ENST00000356244.3_Silent_p.A72A			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	72					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTCTCTAAGGCCTTGGCGA	0.537000													26	52					0	0	0.004656	0	0
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:30776312C>T	ENST00000324685.6	+	6	1138	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000563683.1_Missense_Mutation_p.R235C|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647000													13	32					0	0	0.001855	0	0
RLN3	117579	broad.mit.edu	37	19	14139075	14139075	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14139075G>A	ENST00000431365.2	+	1	116	c.59G>A	c.(58-60)tGg>tAg	p.W20*	RLN3_ENST00000585987.1_Nonsense_Mutation_p.W20*	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	20						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GGGGAGCTGTGGCCGGGAGCT	0.647000													33	54					0	0	0.002096	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948193	62948193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:62948193G>A	ENST00000403374.2	-	7	814	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.L337F|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	337					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AATTCACAAAGAGAATGCTTT	0.388000													19	71					0	0	0.001882	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143840	142143840	+	RNA	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142143840A>G	ENST00000390373.2	-	0	155																											GTCGATACCGATACATGTATT	0.488000													5	104					0	0	0.000978	0	0
RETSAT	54884	broad.mit.edu	37	2	85576630	85576630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:85576630G>A	ENST00000295802.4	-	5	986	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RETSAT_ENST00000457495.2_Missense_Mutation_p.P231S|RETSAT_ENST00000263854.6_Missense_Mutation_p.P292S	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	292					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCCCTCGGGGATAAAAGCCT	0.572000													22	56					0	0	0.002780	0	0
VDAC2	7417	broad.mit.edu	37	10	76972009	76972009	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:76972009A>G	ENST00000332211.6	+	3	266	c.53A>G	c.(52-54)tAt>tGt	p.Y18C	VDAC2_ENST00000543351.1_Missense_Mutation_p.Y18C|VDAC2_ENST00000313132.4_Missense_Mutation_p.Y33C|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000535553.1_5'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	18						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CCTCCATCATATGCTGACCTT	0.368000													26	40					0	0	0.002445	0	0
KCNH7	90134	broad.mit.edu	37	2	163302577	163302577	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:163302577A>G	ENST00000332142.5	-	7	1604	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	KCNH7_ENST00000328032.4_Missense_Mutation_p.V495A	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	502					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATTGCTGCAACCATGTCAAT	0.358000													12	22					0	0	0.001368	0	0
METTL20	254013	broad.mit.edu	37	12	31814976	31814976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:31814976C>T	ENST00000357721.3	+	2	304	c.89C>T	c.(88-90)cCc>cTc	p.P30L	METTL20_ENST00000395763.3_Missense_Mutation_p.P30L|METTL20_ENST00000538391.1_Missense_Mutation_p.P30L|METTL20_ENST00000538463.1_Missense_Mutation_p.P30L|METTL20_ENST00000412352.2_Missense_Mutation_p.P30L	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	30						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						CTCTTGTTTCCCTGTGGCCAG	0.537000													38	89					0	0	0.004289	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760825	15760825	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15760825C>T	ENST00000221307.7	+	7	798	c.750C>T	c.(748-750)acC>acT	p.T250T	CYP4F3_ENST00000585846.1_Silent_p.T250T|CYP4F3_ENST00000586182.1_Silent_p.T250T|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000591058.1_Silent_p.T250T	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	250					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATTATCTCACCCCTGATGGGC	0.577000													72	132					0	0	0.003610	0	0
TEC	7006	broad.mit.edu	37	4	48147213	48147213	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:48147213C>T	ENST00000381501.3	-	14	1510	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L	TEC_ENST00000511471.2_5'UTR	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	451	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGAGGAAATTCAGAAGGCAGC	0.473000													40	77					0	0	0.005524	0	0
MYH2	4620	broad.mit.edu	37	17	10448744	10448744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:10448744C>T	ENST00000245503.5	-	5	808	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	MYH2_ENST00000532183.1_Missense_Mutation_p.A142T|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A142T	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	142	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCGGTAGGCTGTCACCACC	0.517000													69	53					0	0	0.003610	0	0
REN	5972	broad.mit.edu	37	1	204135392	204135392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204135392C>T	ENST00000367195.2	-	1	73	c.30G>A	c.(28-30)tgG>tgA	p.W10*	REN_ENST00000272190.8_Nonsense_Mutation_p.W10*			P00797	RENI_HUMAN	renin	10					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GCAGCAGTCCCCAGCGAGGCA	0.567000													13	69					0	0	0.002450	0	0
UNC13A	23025	broad.mit.edu	37	19	17741504	17741504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:17741504C>T	ENST00000428389.2	-	30	3747	c.3748G>A	c.(3748-3750)Gat>Aat	p.D1250N	UNC13A_ENST00000550896.1_Missense_Mutation_p.D1160N|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1162N|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1162N|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1162N|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1162N			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1162					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGCAGGAAATCCCGGGACACC	0.567000													25	62					0	0	0.004656	0	0
TCN1	6947	broad.mit.edu	37	11	59623456	59623456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:59623456C>T	ENST00000257264.3	-	6	927	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	275					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGAAATTTCCGTGAGCACT	0.458000													24	95					0	0	0.005443	0	0
ENPEP	2028	broad.mit.edu	37	4	111474532	111474532	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:111474532C>T	ENST00000265162.5	+	18	2905	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	855					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.R855*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TACAGTCATTCGATATATCTC	0.388000													45	94					0	0	0.002222	0	0
FAM129A	116496	broad.mit.edu	37	1	184787912	184787912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:184787912G>A	ENST00000367511.3	-	9	1226	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	345					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCAGGAATGGCTGCACACTC	0.522000													64	220					0	0	0.003610	0	0
GRM3	2913	broad.mit.edu	37	7	86416133	86416133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:86416133C>T	ENST00000361669.2	+	3	2124	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	GRM3_ENST00000439827.1_Missense_Mutation_p.P342L|GRM3_ENST00000394720.2_Missense_Mutation_p.P340L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.P214L	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	342					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCCTCAACCCCTACAACAAC	0.607000													9	27					0	0	0.004482	0	0
EBF1	1879	broad.mit.edu	37	5	158140039	158140039	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:158140039C>T	ENST00000313708.6	-	13	1590	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_ENST00000517373.1_Silent_p.V428V|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.V405V	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	436					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577000			T	HMGA2	lipoma								25	25					0	0	0.004656	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212483	50212483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50212483C>T	ENST00000284509.6	-	18	2024	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R628Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	628					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCCAGCTATTCGTTCATCCCT	0.403000													34	73					0	0	0.002836	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760963	6760963	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6760963G>A	ENST00000245908.6	-	3	374	c.105C>T	c.(103-105)ttC>ttT	p.F35F	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	35	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CGCGAACCAGGAAGTCGCCAT	0.597000													14	42					0	0	0.004990	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:135374956C>T	ENST00000343036.2	+	4	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_ENST00000393215.3_Missense_Mutation_p.P165S|C9orf171_ENST00000393216.2_Missense_Mutation_p.P165S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000													19	23					0	0	0.007413	0	0
RBM47	54502	broad.mit.edu	37	4	40439812	40439812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:40439812G>A	ENST00000319592.4	-	4	1808	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	RBM47_ENST00000381793.2_Missense_Mutation_p.P367S|RBM47_ENST00000381795.6_Missense_Mutation_p.P367S|RBM47_ENST00000295971.7_Missense_Mutation_p.P367S|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.P329S			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	367						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCCCTGTTGGGCCCAATGAGC	0.642000													20	30					0	0	0.002299	0	0
HYDIN	54768	broad.mit.edu	37	16	70954814	70954814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70954814C>T	ENST00000393567.2	-	46	7615	c.7465G>A	c.(7465-7467)Gaa>Aaa	p.E2489K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2489										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGGCGCTTCCTCCATCCCT	0.617000													6	20					0	0	0.001168	0	0
DSPP	1834	broad.mit.edu	37	4	88533813	88533813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:88533813G>A	ENST00000399271.1	+	4	595	c.475G>A	c.(475-477)Gat>Aat	p.D159N	DSPP_ENST00000282478.7_Missense_Mutation_p.D159N|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	159					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGAAATACTGATAAGAATAC	0.443000													5	19					0	0	0.001984	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998998	112998998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:112998998C>T	ENST00000271277.6	+	6	1109	c.884C>T	c.(883-885)aCc>aTc	p.T295I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	295						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACCAGTAACCGTGTCCAAA	0.458000													40	87					0	0	0.006230	0	0
CD163	9332	broad.mit.edu	37	12	7637811	7637811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7637811G>A	ENST00000359156.4	-	11	2862	c.2660C>T	c.(2659-2661)cCc>cTc	p.P887L	CD163_ENST00000432237.2_Missense_Mutation_p.P887L|CD163_ENST00000396620.3_Missense_Mutation_p.P920L|CD163_ENST00000541972.1_Missense_Mutation_p.P875L|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	887	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACCCACATGGGAATGGACAT	0.552000													31	62					0	0	0.002836	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541696	96541696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96541696C>T	ENST00000371321.3	+	5	843	c.761C>T	c.(760-762)tCg>tTg	p.S254L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	254					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACCAAGAATCGATGGACATC	0.353000													25	57					0	0	0.005443	0	0
OR4A47	403253	broad.mit.edu	37	11	48511190	48511190	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48511190C>T	ENST00000446524.1	+	1	922	c.846C>T	c.(844-846)ccC>ccT	p.P282P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGCTGAACCCCTTAATCTACA	0.408000													52	89					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325751	61325751	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61325751C>T	ENST00000283752.5	-	5	608	c.465G>A	c.(463-465)acG>acA	p.T155T	SERPINB3_ENST00000332821.8_Silent_p.T155T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	155					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T155T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCCTACCATTCGTTTGACTTT	0.448000													46	37					0	0	0.003610	0	0
PLCB2	5330	broad.mit.edu	37	15	40594551	40594551	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:40594551C>T	ENST00000260402.3	-	5	622		c.e5-1		PLCB2_ENST00000543785.2_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site|PLCB2_ENST00000557821.1_Splice_Site	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCCCAGGCCTGCAGGACCA	0.657000													7	15					0	0	0.003080	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784106	24784106	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:24784106G>A	ENST00000376451.2	+	3	1124	c.864G>A	c.(862-864)agG>agA	p.R288R	KIAA1217_ENST00000458595.1_Silent_p.R570R|KIAA1217_ENST00000376462.1_Silent_p.R525R|KIAA1217_ENST00000430453.2_Silent_p.R491R|KIAA1217_ENST00000396446.1_Silent_p.R288R|KIAA1217_ENST00000376452.3_Silent_p.R570R|KIAA1217_ENST00000376454.3_Silent_p.R605R|KIAA1217_ENST00000396445.1_Silent_p.R288R|KIAA1217_ENST00000307544.6_Silent_p.R288R			Q5T5P2	SKT_HUMAN	KIAA1217	605					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGCCAACAGGAACCACACAG	0.423000													16	30					0	0	0.001882	0	0
OR52H1	390067	broad.mit.edu	37	11	5565953	5565953	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5565953G>A	ENST00000322653.4	-	1	826	c.801C>T	c.(799-801)atC>atT	p.I267I	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGGGCGAGGATGGAGAAAA	0.502000													41	65					0	0	0.002522	0	0
VNN1	8876	broad.mit.edu	37	6	133032871	133032871	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:133032871C>T	ENST00000367928.4	-	2	331	c.318G>A	c.(316-318)tgG>tgA	p.W106*		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	106	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TACAGGGGATCCAGTTTACTT	0.378000													29	28					0	0	0.007291	0	0
LPAR1	1902	broad.mit.edu	37	9	113704360	113704360	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:113704360C>T	ENST00000374431.3	-	4	517	c.134G>A	c.(133-135)tGg>tAg	p.W45*	LPAR1_ENST00000358883.4_Nonsense_Mutation_p.W45*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.W45*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.W46*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.W46*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	45					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GACTGTGTTCCATTCTGTGGC	0.438000													20	24					0	0	0.001882	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127253	62127253	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:62127253C>G	ENST00000217182.3	-	3	445	c.280G>C	c.(280-282)Ggc>Cgc	p.G94R	EEF1A2_ENST00000298049.7_Missense_Mutation_p.G94R	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	94						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCGCGGTGGCCGGGGGCATCG	0.612000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	73					0	0	0.006230	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894422	78894422	+	Missense_Mutation	SNP	C	C	T	rs74315118		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:78894422C>T	ENST00000326828.5	-	5	946	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CHRNA3_ENST00000348639.3_Missense_Mutation_p.D188N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	188					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGACCAGATCGATTTTCGCC	0.488000													45	74					0	0	0.003610	0	0
ZNF43	7594	broad.mit.edu	37	19	21991416	21991416	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:21991416T>G	ENST00000594012.1	-	7	1919	c.1405A>C	c.(1405-1407)Att>Ctt	p.I469L	ZNF43_ENST00000598381.1_Missense_Mutation_p.I469L|ZNF43_ENST00000354959.4_Missense_Mutation_p.I475L|ZNF43_ENST00000595461.1_Missense_Mutation_p.I469L	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GCAGTATGAATTCTCTTATGT	0.353000													20	31					0	0	0.007413	0	0
C6orf201	404220	broad.mit.edu	37	6	4099400	4099400	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:4099400G>A	ENST00000380175.4	+	3	1017	c.252G>A	c.(250-252)acG>acA	p.T84T	C6orf201_ENST00000430835.2_Silent_p.T84T|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Silent_p.T87T	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	84										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGAGAAACACGAAAGAGCCTC	0.413000													19	23					0	0	0.001523	0	0
MTUS2	23281	broad.mit.edu	37	13	29599330	29599330	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:29599330G>A	ENST00000431530.3	+	1	583	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	165						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGGCAAAGACCCTTGACA	0.512000													33	65					0	0	0.004289	0	0
BATF2	116071	broad.mit.edu	37	11	64757231	64757231	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64757231G>A	ENST00000301887.4	-	3	325	c.195C>T	c.(193-195)tcC>tcT	p.S65S	BATF2_ENST00000435842.2_5'UTR|BATF2_ENST00000527716.1_Silent_p.S41S	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	65	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						CGGCCTGCAGGGACTGGATCT	0.647000													22	39					0	0	0.002299	0	0
GLYAT	10249	broad.mit.edu	37	11	58491920	58491920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58491920G>A	ENST00000344743.3	-	2	191	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GLYAT_ENST00000529732.1_Missense_Mutation_p.S17F|GLYAT_ENST00000278400.3_Missense_Mutation_p.S17F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTCCTCAAGGATTTCTCCAG	0.448000													56	118					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9068878	9068878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9068878C>T	ENST00000397910.4	-	3	18771	c.18568G>A	c.(18568-18570)Gat>Aat	p.D6190N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTACAAAATCCTGAGTTCTG	0.473000													64	79					0	0	0.003610	0	0
SORBS2	8470	broad.mit.edu	37	4	186545621	186545621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:186545621G>A	ENST00000431808.1	-	14	1513	c.950C>T	c.(949-951)tCc>tTc	p.S317F	SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S417F|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S221F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S317F|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	317						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACTGCAAAGGGATGGACATAT	0.473000													21	48					0	0	0.003330	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410361	32410361	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:32410361T>C	ENST00000395388.2	+	2	328	c.219T>C	c.(217-219)ttT>ttC	p.F73F	HLA-DRA_ENST00000374982.5_Silent_p.F73F	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	73	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTGAAGAATTTGGACGATTTG	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				37	134					0	0	0.004878	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468581	35468581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:35468581G>A	ENST00000381151.3	+	2	1596	c.1084G>A	c.(1084-1086)Ggc>Agc	p.G362S	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	362						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGTTCCTGTGGGCCTTCGGGG	0.498000													226	401					0	0	0.003610	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462878	37462878	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:37462878C>T	ENST00000381792.2	-	18	2444	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	TMPRSS6_ENST00000406725.1_Silent_p.K746K|TMPRSS6_ENST00000406856.1_Silent_p.K768K|TMPRSS6_ENST00000346753.3_Silent_p.K755K			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	755	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACAGGCATCCTTCTTGCCCT	0.607000													12	16					0	0	0.001523	0	0
AMACR	23600	broad.mit.edu	37	5	34007990	34007990	+	Silent	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:34007990G>C	ENST00000335606.6	-	1	223	c.135C>G	c.(133-135)cgC>cgG	p.R45R	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Silent_p.R45R|AMACR_ENST00000441713.2_Silent_p.R45R|AMACR_ENST00000382072.2_Silent_p.R45R|AMACR_ENST00000382085.3_Silent_p.R45R	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	45					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCCGGCCCAAGCGGCTCACGT	0.726000													5	9					0	0	0.001168	0	0
LIPN	643418	broad.mit.edu	37	10	90537773	90537773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:90537773C>T	ENST00000404459.1	+	9	971	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	324					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CAGAGTCATCCCCCTATATAT	0.488000													12	39					0	0	0.000978	0	0
AMPD3	272	broad.mit.edu	37	11	10517124	10517124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:10517124C>T	ENST00000444303.2	+	8	1269	c.797C>T	c.(796-798)gCc>gTc	p.A266V	AMPD3_ENST00000396554.3_Missense_Mutation_p.A434V	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	425					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGGAGGTTGCCCGGGAGCTG	0.617000													12	30					0	0	0.004007	0	0
CFB	629	broad.mit.edu	37	6	31905098	31905098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31905098C>T	ENST00000556679.1	+	5	587	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	CFB_ENST00000456570.1_Missense_Mutation_p.H178Y|C2_ENST00000469372.1_Missense_Mutation_p.H85Y|CFB_ENST00000477310.1_Missense_Mutation_p.H149Y|C2_ENST00000452323.2_Missense_Mutation_p.H117Y|C2_ENST00000299367.5_Missense_Mutation_p.H331Y|C2_ENST00000442278.2_Missense_Mutation_p.H199Y			P00751	CFAB_HUMAN	complement factor B	347	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TATTCCAGATCATGAAAATGG	0.453000													195	208					0	0	0.003610	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161221	48161221	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48161221A>T	ENST00000418331.2	+	11	2688	c.2336A>T	c.(2335-2337)gAa>gTa	p.E779V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	779	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATAGAACGGAAGTCACGTAT	0.537000													14	47					0	0	0.004007	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625948	140625948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140625948G>A	ENST00000231173.3	+	1	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		268	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCTAGGGATTTAGACAC	0.498000													14	9					0	0	0.001855	0	0
C1orf168	199920	broad.mit.edu	37	1	57257916	57257916	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57257916T>C	ENST00000343433.6	-	2	650	c.570A>G	c.(568-570)ggA>ggG	p.G190G	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	190										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGTCTGGGCTCCTTTTGTTT	0.458000													30	84					0	0	0.002445	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103049768	103049768	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:103049768G>T	ENST00000375735.2	+	39	6297	c.6153G>T	c.(6151-6153)tgG>tgT	p.W2051C	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W2051C|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2051	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGCTCATGGATAATCTGTG	0.328000													26	19					1.2476e-16	2.59635e-16	0.006320	1	0
NFKB2	4791	broad.mit.edu	37	10	104156724	104156724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:104156724C>T	ENST00000369966.3	+	6	557	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	NFKB2_ENST00000428099.1_Missense_Mutation_p.R103C|NFKB2_ENST00000189444.6_Missense_Mutation_p.R103C	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	103	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGACCCACCTCGTGCTCATGC	0.607000			T	IGH@	B-NHL								18	26					0	0	0.007413	0	0
DCHS2	54798	broad.mit.edu	37	4	155219741	155219741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:155219741C>T	ENST00000357232.3	-	18	4359	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1454	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGATCTCCCAGGTCAGAG	0.453000													32	79					0	0	0.002096	0	0
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343000			"""N, S, F"""		hepatocellular carcinoma								18	19					0	0	0.004990	0	0
UNCX	340260	broad.mit.edu	37	7	1273286	1273286	+	Silent	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:1273286C>G	ENST00000316333.8	+	2	516	c.405C>G	c.(403-405)cgC>cgG	p.R135R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	135					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGTTCATGCGCGAGGCGCTGG	0.677000													22	50					0	0	0.003330	0	0
FAM49A	81553	broad.mit.edu	37	2	16740731	16740731	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:16740731G>A	ENST00000381323.3	-	10	1054	c.834C>T	c.(832-834)atC>atT	p.I278I	FAM49A_ENST00000355549.2_Silent_p.I278I|FAM49A_ENST00000406434.1_Silent_p.I278I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	278						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTCTTACATCGATCTTGGATG	0.483000													20	74					0	0	0.002299	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421838	69421838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:69421838C>T	ENST00000333026.3	+	5	671	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	191					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGCTGAAGCTCTCTTGTGCCG	0.542000													16	12					0	0	0.004007	0	0
PADI4	23569	broad.mit.edu	37	1	17690098	17690098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:17690098G>A	ENST00000375448.4	+	16	1866	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	614					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTGGAGGAGAAGGTGTG	0.617000													14	22					0	0	0.003163	0	0
CHD8	57680	broad.mit.edu	37	14	21871794	21871794	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:21871794G>A	ENST00000399982.2	-	16	3400	c.3336C>T	c.(3334-3336)ttC>ttT	p.F1112F	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Silent_p.F1112F|CHD8_ENST00000430710.3_Silent_p.F833F	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1112					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTTCACGGAATTCTGTTA	0.388000													3	13					0	0	0.004672	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290748	20290748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:20290748G>A	ENST00000377252.3	+	2	998	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PLXDC2_ENST00000377242.3_Missense_Mutation_p.E53K	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	53						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CACAGAGGAGGAGGTGGAAGT	0.478000													19	27					0	0	0.001882	0	0
C1orf61	10485	broad.mit.edu	37	1	156376906	156376906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156376906G>A	ENST00000368243.1	-	6	505	c.389C>T	c.(388-390)tCt>tTt	p.S130F		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	130						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					aagagccaaagagctggtgct	0.448000													17	39					0	0	0.004007	0	0
REV1	51455	broad.mit.edu	37	2	100065959	100065959	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:100065959G>A	ENST00000258428.3	-	4	417	c.189C>T	c.(187-189)tcC>tcT	p.S63S	REV1_ENST00000393445.3_Silent_p.S63S|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	63	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCCTCAGCGGAAGGATCTG	0.313000								Direct reversal of damage					30	42					0	0	0.006320	0	0
BRSK2	9024	broad.mit.edu	37	11	1466993	1466993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:1466993C>T	ENST00000308219.9	+	12	1468	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	BRSK2_ENST00000544817.1_Missense_Mutation_p.P56L|BRSK2_ENST00000528710.1_Missense_Mutation_p.P301L|BRSK2_ENST00000382179.1_Missense_Mutation_p.P407L|BRSK2_ENST00000308230.5_Missense_Mutation_p.P361L|BRSK2_ENST00000531197.1_Missense_Mutation_p.P361L|BRSK2_ENST00000528841.1_Missense_Mutation_p.P361L|BRSK2_ENST00000526678.1_Missense_Mutation_p.P361L	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	361					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCAGACCCTCCCCGGAAGCGT	0.687000													18	30					0	0	0.007413	0	0
ADAM2	2515	broad.mit.edu	37	8	39613368	39613368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39613368C>T	ENST00000265708.4	-	16	1779	c.1676G>A	c.(1675-1677)aGa>aAa	p.R559K	ADAM2_ENST00000521880.1_Intron|ADAM2_ENST00000347580.4_Missense_Mutation_p.R540K|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	559	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATAGTGGCTCTTGGAATTTG	0.308000													27	56					0	0	0.001786	0	0
ACAD11	84129	broad.mit.edu	37	3	132347256	132347256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:132347256G>A	ENST00000264990.6	-	8	1969	c.998C>T	c.(997-999)tCa>tTa	p.S333L	ACAD11_ENST00000481970.2_Missense_Mutation_p.S333L|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Missense_Mutation_p.S333L	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATCCTCAGATGAATTATTTCC	0.348000													21	47					0	0	0.001523	0	0
FGFR2	2263	broad.mit.edu	37	10	123247617	123247617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:123247617C>T	ENST00000358487.5	-	14	2146	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	FGFR2_ENST00000369061.4_Missense_Mutation_p.R513Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R508Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R626Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R536Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R626Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R537Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R511Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.R397Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R623Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.R623Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R509Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	625	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGCTAAATCTCGATGAATACA	0.323000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				41	99					0	0	0.002522	0	0
GRID2	2895	broad.mit.edu	37	4	94128555	94128555	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:94128555G>A	ENST00000282020.4	+	5	994	c.735_splice	c.e5-1	p.V246_splice	GRID2_ENST00000510992.1_Splice_Site_p.V151_splice|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	246					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTATTCTAGGTTGTGGAGAC	0.318000													31	69					0	0	0.002445	0	0
CCDC89	220388	broad.mit.edu	37	11	85396715	85396715	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:85396715C>T	ENST00000316398.3	-	1	605	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	153						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCTTCTCATTCTCCTCCCTCA	0.517000													40	34					0	0	0.007835	0	0
ABCB11	8647	broad.mit.edu	37	2	169780207	169780207	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:169780207C>T	ENST00000263817.6	-	28	4015	c.3891G>A	c.(3889-3891)aaG>aaA	p.K1297K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1297	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CATGGGTCCCCTTTTCAATCA	0.522000													24	41					0	0	0.004656	0	0
CRYZL1	9946	broad.mit.edu	37	21	34969608	34969608	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:34969608A>G	ENST00000361534.2	-	11	987	c.848T>C	c.(847-849)gTa>gCa	p.V283A	CRYZL1_ENST00000381540.3_Missense_Mutation_p.V259A|CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381554.3_Missense_Mutation_p.V259A|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Missense_Mutation_p.V244A			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	259					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTCTGTTGTTACCCAGTGGCC	0.363000													27	55					0	0	0.005443	0	0
TNR	7143	broad.mit.edu	37	1	175372436	175372436	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175372436C>T	ENST00000367674.1	-	4	1524	c.816G>A	c.(814-816)ggG>ggA	p.G272G	TNR_ENST00000263525.2_Silent_p.G272G	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	272	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCTCCCCTTCCCCGAACAGT	0.642000													12	45					0	0	0.000978	0	0
NFAT5	10725	broad.mit.edu	37	16	69725734	69725734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:69725734C>A	ENST00000349945.1	+	14	3276	c.1724C>A	c.(1723-1725)tCa>tAa	p.S575*	NFAT5_ENST00000393742.2_Nonsense_Mutation_p.S575*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.S575*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.S668*|NFAT5_ENST00000354436.2_Nonsense_Mutation_p.S651*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.S669*	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	651					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCATCACCATCATCTTCCCAC	0.403000													22	59					3.10358e-05	6.39139e-05	0.002299	1	0
OR2G2	81470	broad.mit.edu	37	1	247752384	247752384	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247752384C>T	ENST00000320065.1	+	1	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAGCATTCGGGACCTGCT	0.502000													39	57					0	0	0.004289	0	0
TPRG1	285386	broad.mit.edu	37	3	189038470	189038470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:189038470C>T	ENST00000345063.3	+	6	856	c.689C>T	c.(688-690)tCa>tTa	p.S230L	TPRG1_ENST00000433971.1_Missense_Mutation_p.S230L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	230										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAAGAATTCAACTGGATCT	0.403000													14	39					0	0	0.002450	0	0
CD84	8832	broad.mit.edu	37	1	160518106	160518106	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:160518106C>T	ENST00000368054.3	-	7	962	c.927G>A	c.(925-927)ggG>ggA	p.G309G	CD84_ENST00000534968.1_Silent_p.G195G|CD84_ENST00000368051.3_3'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Silent_p.G326G|CD84_ENST00000368048.3_Silent_p.G320G	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	326					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGCTGGCTTTCCCCATCTGTG	0.498000													9	42					0	0	0.006214	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332676	130332676	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:130332676G>A	ENST00000299164.2	+	4	1542		c.e4+1			NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAAGCACAGGGTGAGTGAGTG	0.652000													30	36					0	0	0.001786	0	0
KRT38	8687	broad.mit.edu	37	17	39594367	39594367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39594367G>A	ENST00000246646.3	-	6	1218	c.1219C>T	c.(1219-1221)Ctt>Ttt	p.L407F		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	407	Coil 2.|Rod.					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)				CTTTCCAGAAGGTTCCGGTAC	0.552000													19	35					0	0	0.008871	0	0
NT5C1B	93034	broad.mit.edu	37	2	18768437	18768437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:18768437C>T	ENST00000359846.2	-	3	200	c.123G>A	c.(121-123)atG>atA	p.M41I	NT5C1B_ENST00000304081.4_Intron|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.M41I|NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000600945.1_Missense_Mutation_p.M41I	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CTGCACGCCTCATCTGAAAGA	0.562000													10	13					0	0	0.008291	0	0
C4orf21	55345	broad.mit.edu	37	4	113475032	113475032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:113475032C>T	ENST00000505019.1	-	22	5430	c.5305G>A	c.(5305-5307)Gag>Aag	p.E1769K		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTATGCTGCTCAATGCTTTTT	0.378000													19	49					0	0	0.001523	0	0
ANK3	288	broad.mit.edu	37	10	61865815	61865815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:61865815G>A	ENST00000280772.1	-	28	3367	c.3176C>T	c.(3175-3177)cCt>cTt	p.P1059L	ANK3_ENST00000503366.1_Missense_Mutation_p.P1060L|ANK3_ENST00000373827.2_Missense_Mutation_p.P1053L|ANK3_ENST00000355288.2_Missense_Mutation_p.P193L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1059	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACTATGACAGGGCTGGAAAA	0.333000													4	24					0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13793828C>T	ENST00000265104.4	-	49	8124	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2674	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome				20	59					0	0	0.002299	0	0
TRANK1	9881	broad.mit.edu	37	3	36896829	36896829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36896829G>A	ENST00000429976.2	-	12	4499	c.4252C>T	c.(4252-4254)Ctc>Ttc	p.L1418F	TRANK1_ENST00000428977.2_Missense_Mutation_p.L868F|TRANK1_ENST00000301807.6_Missense_Mutation_p.L868F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1418					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCCCCGTGAGGAACATAGAG	0.537000													54	169					0	0	0.003610	0	0
C2	717	broad.mit.edu	37	6	31901496	31901496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31901496G>A	ENST00000469372.1	+	2	268	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	C2_ENST00000418949.2_Silent_p.T184T|CFB_ENST00000556679.1_Silent_p.T122T|CFB_ENST00000456570.1_Silent_p.T122T|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Silent_p.T61T|C2_ENST00000299367.5_Silent_p.T184T|C2_ENST00000442278.2_Silent_p.T52T					complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TTGTGCTCACGGGGTCTTCGG	0.647000													113	324					0	0	0.003610	0	0
NGDN	25983	broad.mit.edu	37	14	23945579	23945579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:23945579C>T	ENST00000397154.3	+	8	689	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	NGDN_ENST00000408901.3_Missense_Mutation_p.P226S|NGDN_ENST00000556580.1_5'UTR			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	226					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGCTCGGCATCCCCATGTTAC	0.502000													13	25					0	0	0.004007	0	0
OR4K14	122740	broad.mit.edu	37	14	20482883	20482883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20482883G>A	ENST00000305045.2	-	1	469	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGACTGATGGAGTGCACAAA	0.488000													21	25					0	0	0.002780	0	0
COL11A2	1302	broad.mit.edu	37	6	33133762	33133762	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33133762C>T	ENST00000341947.2	-	62	4656		c.e62-1		COL11A2_ENST00000395197.1_Splice_Site|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGCCTGGGCCCTGACAAGGAA	0.597000													10	57					0	0	0.008291	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175331865C>T	ENST00000367674.1	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000													39	93					0	0	0.004289	0	0
CD96	10225	broad.mit.edu	37	3	111319611	111319611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:111319611G>A	ENST00000352690.4	+	7	1177	c.937G>A	c.(937-939)Gga>Aga	p.G313R	CD96_ENST00000283285.5_Missense_Mutation_p.G329R|CD96_ENST00000438817.2_Missense_Mutation_p.G313R	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	329	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGCAAAGATGGATTTTTGGA	0.378000									Opitz Trigonocephaly syndrome				22	47					0	0	0.002780	0	0
PRKCQ	5588	broad.mit.edu	37	10	6525506	6525506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6525506G>A	ENST00000263125.5	-	11	1174	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	PRKCQ_ENST00000539722.1_Missense_Mutation_p.L234F|PRKCQ_ENST00000397176.2_Missense_Mutation_p.L359F	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	359					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GGTTCTGGAAGATGGCACATT	0.413000													37	54					0	0	0.003755	0	0
SCN1A	6323	broad.mit.edu	37	2	166894598	166894598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:166894598C>T	ENST00000423058.2	-	15	2651	c.2634G>A	c.(2632-2634)atG>atA	p.M878I	SCN1A_ENST00000409050.1_Missense_Mutation_p.M850I|SCN1A_ENST00000375405.3_Missense_Mutation_p.M867I|SCN1A_ENST00000303395.4_Missense_Mutation_p.M878I|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	878						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTATTAGCATATTTAACG	0.388000													7	36					0	0	0.004482	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797893	31797893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:31797893C>T	ENST00000390690.2	-	1	393	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	113						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTCCTGGATCCACAGCTCAG	0.502000													14	28					0	0	0.002450	0	0
CELSR3	1951	broad.mit.edu	37	3	48687946	48687946	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:48687946G>A	ENST00000544264.1	-	16	6719	c.6439C>T	c.(6439-6441)Ctg>Ttg	p.L2147L	CELSR3_ENST00000164024.4_Silent_p.L2147L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2147					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGTGGCCAGGACGCCAAAC	0.612000													6	17					0	0	0.001984	0	0
CACNA1A	773	broad.mit.edu	37	19	13409729	13409729	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:13409729C>T	ENST00000360228.5	-	19	2717	c.2718G>A	c.(2716-2718)cgG>cgA	p.R906R	CACNA1A_ENST00000573710.2_Silent_p.R907R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	907					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCTGCCCTCCCGGGCGTGGT	0.771000													8	15					0	0	0.004482	0	0
SEPT7	989	broad.mit.edu	37	7	35872491	35872491	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:35872491A>G	ENST00000494488.2	+	2	108	c.108A>G	c.(106-108)gaA>gaG	p.E36E	SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000350320.6_Silent_p.E49E|SEPT7_ENST00000399034.2_Silent_p.E51E|SEPT7_ENST00000469679.2_Silent_p.E49E|SEPT7_ENST00000399035.3_Silent_p.E49E			Q16181	SEPT7_HUMAN	septin 7	50					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAGGTTTTGAATTCACGCTTA	0.348000													35	97					0	0	0.004878	0	0
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4703813G>A	ENST00000396950.3	-	2	368	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000													34	55					0	0	0.003755	0	0
TRIM9	114088	broad.mit.edu	37	14	51475933	51475933	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:51475933T>C	ENST00000298355.3	-	5	2292	c.1171A>G	c.(1171-1173)Aga>Gga	p.R391G	TRIM9_ENST00000338969.5_Missense_Mutation_p.R391G|TRIM9_ENST00000360392.4_Missense_Mutation_p.R391G	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	391	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGCACTCTTCTTATGAGGGCG	0.507000													11	56					0	0	0.000978	0	0
ACACA	31	broad.mit.edu	37	17	35445884	35445884	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:35445884C>T	ENST00000353139.5	-	55	7498	c.7017G>A	c.(7015-7017)aaG>aaA	p.K2339K	ACACA_ENST00000361253.5_Silent_p.K428K|ACACA_ENST00000360679.3_Silent_p.K2244K|ACACA_ENST00000335166.5_Silent_p.K2224K|ACACA_ENST00000394406.2_Silent_p.K2302K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2302					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCGGATTTGCTTGAGGACGT	0.463000													75	177					0	0	0.003610	0	0
GPR128	84873	broad.mit.edu	37	3	100368602	100368602	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:100368602C>T	ENST00000273352.3	+	11	1598	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GPR128_ENST00000475887.1_Silent_p.L149L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	444					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGGATGTGCACTGTCTGTTAC	0.358000													23	43					0	0	0.003954	0	0
PALLD	23022	broad.mit.edu	37	4	169589389	169589389	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169589389C>T	ENST00000261509.6	+	3	1168	c.957C>T	c.(955-957)atC>atT	p.I319I	PALLD_ENST00000505667.1_Silent_p.I319I|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Silent_p.I196I	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	319	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATATTCAAATCCACTGTGAGG	0.512000									Pancreatic Cancer, Familial Clustering of				34	70					0	0	0.007835	0	0
IGSF5	150084	broad.mit.edu	37	21	41151098	41151098	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:41151098T>C	ENST00000380588.4	+	5	903	c.800T>C	c.(799-801)gTt>gCt	p.V267A	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	267						integral to membrane|tight junction		p.V267A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGGCAAAGTTGGACTTGGA	0.463000													24	61					0	0	0.003954	0	0
TTC27	55622	broad.mit.edu	37	2	32865405	32865405	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:32865405C>T	ENST00000317907.4	+	4	696	c.465C>T	c.(463-465)acC>acT	p.T155T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	155							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACAGCCTGACCTCGAAGCCTA	0.383000													19	37					0	0	0.008871	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673373	141673373	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141673373C>T	ENST00000547270.1	-	1	200	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCCAAAAATTCACCAAGAAAA	0.493000													23	45					0	0	0.001882	0	0
KCNQ3	3786	broad.mit.edu	37	8	133175741	133175741	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:133175741C>T	ENST00000388996.4	-	9	1656	c.1235_splice	c.e9-1	p.R412_splice	KCNQ3_ENST00000519445.1_Splice_Site_p.R412_splice|KCNQ3_ENST00000521134.1_Splice_Site_p.R292_splice	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	412					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCTGTTCTTTCCTAGAAAGAG	0.423000													49	37					0	0	0.003610	0	0
EEPD1	80820	broad.mit.edu	37	7	36194506	36194506	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:36194506C>T	ENST00000242108.4	+	2	1291	c.573C>T	c.(571-573)atC>atT	p.I191I	EEPD1_ENST00000534978.1_Silent_p.I191I	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	191					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGACAGGATCCGGCACCAGG	0.627000													18	51					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179497472	179497472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179497472C>T	ENST00000589042.1	-	235	43485	c.43261G>A	c.(43261-43263)Gag>Aag	p.E14421K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12780K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5548K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5356K|TTN_ENST00000359218.5_Missense_Mutation_p.E5481K|TTN_ENST00000342992.6_Missense_Mutation_p.E11853K|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12780	Fibronectin type-III 4.						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)			TCATCTTTCTCGAAGACTTTA	0.428000													48	110					0	0	0.003214	0	0
SENP7	57337	broad.mit.edu	37	3	101049186	101049186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:101049186C>T	ENST00000394095.2	-	20	2796	c.2743G>A	c.(2743-2745)Gat>Aat	p.D915N	SENP7_ENST00000394091.1_Missense_Mutation_p.D751N|SENP7_ENST00000348610.3_Missense_Mutation_p.D882N|SENP7_ENST00000394085.3_Missense_Mutation_p.D103N|SENP7_ENST00000394094.2_Missense_Mutation_p.D850N|SENP7_ENST00000314261.7_Missense_Mutation_p.D849N|SENP7_ENST00000358203.3_Missense_Mutation_p.D751N	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	915	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTGGGAATCCTCTGCACTC	0.348000													19	28					0	0	0.003330	0	0
FAM86DP	692099	broad.mit.edu	37	3	75472101	75472101	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:75472101G>A	ENST00000459803.1	-	0	1040					NR_024241.1																						CGTTGGAGTCGTGTGTGAGTC	0.433000													35	88					0	0	0.003755	0	0
LGR4	55366	broad.mit.edu	37	11	27412695	27412695	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:27412695T>C	ENST00000379214.4	-	4	790	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	LGR4_ENST00000480977.2_Intron|LGR4_ENST00000389858.4_Missense_Mutation_p.Q92R	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	116						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGTTTTCAACTGATTATTCTG	0.368000													27	33					0	0	0.001786	0	0
PTPRD	5789	broad.mit.edu	37	9	8518238	8518238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:8518238G>A	ENST00000381196.4	-	18	1696	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	PTPRD_ENST00000486161.1_Missense_Mutation_p.P385S|PTPRD_ENST00000356435.5_Missense_Mutation_p.P385S|PTPRD_ENST00000397606.3_Missense_Mutation_p.P375S|PTPRD_ENST00000358503.5_Missense_Mutation_p.P372S|PTPRD_ENST00000397617.3_Missense_Mutation_p.P375S|PTPRD_ENST00000355233.5_Missense_Mutation_p.P385S|PTPRD_ENST00000360074.4_Missense_Mutation_p.P372S|PTPRD_ENST00000540109.1_Missense_Mutation_p.P385S|PTPRD_ENST00000537002.1_Missense_Mutation_p.P382S|PTPRD_ENST00000397611.3_Missense_Mutation_p.P382S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	385	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCGAGTAGGGACTTAGTCCA	0.463000										TSP Lung(15;0.13)			43	47					0	0	0.002522	0	0
ZNF592	9640	broad.mit.edu	37	15	85327213	85327213	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:85327213G>A	ENST00000299927.3	+	1	1329	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	ZNF592_ENST00000560079.2_Missense_Mutation_p.G436D			Q92610	ZN592_HUMAN	zinc finger protein 592	436					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTGAGGCAGGCACAAATTCA	0.627000													4	70					0	0	0.000248	0	0
TRIM51	84767	broad.mit.edu	37	11	55653012	55653012	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55653012G>A	ENST00000449290.2	+	2	200	c.108G>A	c.(106-108)cgG>cgA	p.R36R		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	36						intracellular	zinc ion binding										GCTTTTGCCGGCCCTGTTTGT	0.512000													7	15					0	0	0.001984	0	0
RAG2	5897	broad.mit.edu	37	11	36614441	36614441	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:36614441A>G	ENST00000311485.3	-	2	1439	c.1278T>C	c.(1276-1278)gaT>gaC	p.D426D		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	426					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AAGTGTTGATATCCACATCAC	0.458000									Familial Hemophagocytic Lymphohistiocytosis				34	61					0	0	0.002096	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55890037C>T	ENST00000313472.3	+	1	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000													82	180					0	0	0.003610	0	0
KCNT2	343450	broad.mit.edu	37	1	196397324	196397324	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196397324C>T	ENST00000367433.5	-	10	996	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E299K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E299K|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	299						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGCTTTTCAGTTTGAGCT	0.388000													17	56					0	0	0.008871	0	0
AK5	26289	broad.mit.edu	37	1	77806142	77806142	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:77806142G>A	ENST00000344720.5	+	6	1728	c.702G>A	c.(700-702)caG>caA	p.Q234Q	AK5_ENST00000354567.2_Silent_p.Q260Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	260					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTGCAGAACAGCAGGGCCGAC	0.463000													43	71					0	0	0.002222	0	0
BTG1	694	broad.mit.edu	37	12	92537893	92537893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:92537893G>A	ENST00000256015.3	-	2	840	c.479C>T	c.(478-480)cCt>cTt	p.P160L		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	160					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GTTTTTGGAAGGGCTCGTTCT	0.448000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	37					0	0	0.003755	0	0
TCHH	7062	broad.mit.edu	37	1	152081397	152081397	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152081397G>A	ENST00000368804.1	-	2	4295	c.4296C>T	c.(4294-4296)ttC>ttT	p.F1432F		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1432	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTCACGGAATTTTCTGT	0.592000											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	45	152					0	0	0.002852	0	0
FGFR2	2263	broad.mit.edu	37	10	123279680	123279680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:123279680C>T	ENST00000358487.5	-	7	1024	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000356226.4_Missense_Mutation_p.R136Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R251Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R162Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R251Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R162Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R136Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.R23Q|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000346997.2_Missense_Mutation_p.R251Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.R251Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R251Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	251					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R251Q(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGAGGCGATCGCTCTGGTGG	0.562000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				11	19					0	0	0.001855	0	0
LZTS2	84445	broad.mit.edu	37	10	102763365	102763365	+	Silent	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:102763365C>G	ENST00000370220.1	+	2	3573	c.510C>G	c.(508-510)acC>acG	p.T170T	LZTS2_ENST00000370223.3_Silent_p.T170T			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	170	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTCGGGCCACCGGGCTGTCTG	0.642000													35	89					0	0	0.002445	0	0
FCRL2	79368	broad.mit.edu	37	1	157740218	157740218	+	Silent	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:157740218T>A	ENST00000361516.3	-	3	339	c.291A>T	c.(289-291)atA>atT	p.I97I	FCRL2_ENST00000368181.4_Silent_p.I97I|FCRL2_ENST00000392274.3_Silent_p.I97I	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	97	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCTTTACTATATTTGAAG	0.443000													34	91					0	0	0.002836	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629035	122629035	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:122629035G>A	ENST00000357599.3	-	23	3797	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	SEMA5B_ENST00000195173.4_3'UTR|SEMA5B_ENST00000451055.2_Silent_p.F1191F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1137					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTCGGGCCGGAAGCTGTGTT	0.547000													24	53					0	0	0.005443	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107449109	107449109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:107449109G>A	ENST00000409382.3	-	4	1665	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P352L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P352L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	352					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGATGGCTGGGGTTGGTCAG	0.398000													37	52					0	0	0.004289	0	0
ALMS1	7840	broad.mit.edu	37	2	73680141	73680141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:73680141G>A	ENST00000264448.6	+	8	6595	c.6484G>A	c.(6484-6486)Gaa>Aaa	p.E2162K	ALMS1_ENST00000409009.1_Missense_Mutation_p.E2120K|ALMS1_ENST00000377715.1_Missense_Mutation_p.E2162K	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2162	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACATCTAACTGAAGATGCTCT	0.398000													18	44					0	0	0.007413	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:108315580C>T	ENST00000520734.1	-	4	509	c.224G>A	c.(223-225)gGa>gAa	p.G75E	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G74E			Q15389	ANGP1_HUMAN	angiopoietin 1	275					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000													20	60					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	8999411	8999411	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8999411C>T	ENST00000397910.4	-	56	40967	c.40764G>A	c.(40762-40764)agG>agA	p.R13588R	MUC16_ENST00000380951.5_Silent_p.R229R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13590	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACTGTCCCTGTCCAGGG	0.572000													98	184					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183050710	183050710	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:183050710G>A	ENST00000435564.1	-	13	1673	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	PDE1A_ENST00000346717.4_Silent_p.S457S|PDE1A_ENST00000331935.6_Silent_p.S491S|PDE1A_ENST00000536095.1_Silent_p.S387S|PDE1A_ENST00000409365.1_Silent_p.S475S|PDE1A_ENST00000410103.1_Silent_p.S491S|PDE1A_ENST00000351439.5_Silent_p.S475S|PDE1A_ENST00000358139.2_Silent_p.S491S|PDE1A_ENST00000456212.1_Silent_p.S491S	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	491	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTGCTGCAAGGGAGTAGTCTG	0.468000													19	56					0	0	0.001523	0	0
KRT38	8687	broad.mit.edu	37	17	39594532	39594532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39594532C>T	ENST00000246646.3	-	6	1053	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	352	Coil 2.|Rod.					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)				AAGCGGTCCTCGGCTTCACAC	0.552000													12	38					0	0	0.004007	0	0
CGNL1	84952	broad.mit.edu	37	15	57730914	57730914	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:57730914C>T	ENST00000281282.5	+	2	795	c.717C>T	c.(715-717)agC>agT	p.S239S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	239	Head.			S -> G (in Ref. 1; AAT37906).		myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACGTTCAGAGCTGCACCAAGG	0.562000													31	77					0	0	0.002836	0	0
ALPI	248	broad.mit.edu	37	2	233321872	233321872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:233321872G>A	ENST00000295463.3	+	5	565	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	163					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AAGTCAGTAGGAGTGGTGACC	0.622000													21	32					0	0	0.002299	0	0
PDCD11	22984	broad.mit.edu	37	10	105162875	105162875	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:105162875T>C	ENST00000369797.3	+	4	329	c.234_splice	c.e4-1	p.S79_splice		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTCTTCTAGTCCCTGTGTGA	0.448000													72	150					0	0	0.003610	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749677	91749677	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:91749677G>A	ENST00000389857.6	-	26	4712	c.4626C>T	c.(4624-4626)acC>acT	p.T1542T	CCDC88C_ENST00000331194.7_Silent_p.T66T	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1542					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACTCACCTTTGGTGCGGCCTG	0.637000													12	20					0	0	0.000978	0	0
MPP7	143098	broad.mit.edu	37	10	28420537	28420537	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:28420537C>T	ENST00000337532.5	-	7	675	c.399G>A	c.(397-399)gaG>gaA	p.E133E	MPP7_ENST00000375732.1_Silent_p.E133E|MPP7_ENST00000375719.3_Silent_p.E133E|MPP7_ENST00000445954.2_Silent_p.E8E|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Silent_p.E133E	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	133					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGAGTCTTCCTCATCGTCAA	0.418000													32	82					0	0	0.003271	0	0
FBXL13	222235	broad.mit.edu	37	7	102523914	102523914	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:102523914C>T	ENST00000393772.2	-	14	1652	c.1225_splice	c.e14-1	p.G409_splice	FBXL13_ENST00000313221.4_Splice_Site_p.G409_splice|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Splice_Site_p.G409_splice|FBXL13_ENST00000436908.1_Splice_Site_p.G409_splice|FBXL13_ENST00000379305.3_Splice_Site_p.G409_splice|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Splice_Site_p.G409_splice			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	409										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCTTTTATTTCCTGTTTTTAA	0.313000													21	42					0	0	0.008871	0	0
PTPRF	5792	broad.mit.edu	37	1	44085852	44085852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:44085852C>T	ENST00000359947.4	+	30	5538	c.5198C>T	c.(5197-5199)aCc>aTc	p.T1733I	PTPRF_ENST00000372413.3_Missense_Mutation_p.T1724I|PTPRF_ENST00000372414.3_Missense_Mutation_p.T1733I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.T1092I|PTPRF_ENST00000438120.1_Missense_Mutation_p.T1724I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1733	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTCCACCATCATCGTC	0.597000													36	103					0	0	0.007835	0	0
SPTA1	6708	broad.mit.edu	37	1	158589991	158589991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158589991C>T	ENST00000368148.3	-	44	6566	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2126K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2129					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCAGGTCCTTTCCAGCAC	0.448000													49	161					0	0	0.003610	0	0
TYRO3	7301	broad.mit.edu	37	15	41861141	41861141	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:41861141C>T	ENST00000263798.3	+	9	1397	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	TYRO3_ENST00000559066.1_Silent_p.I346I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	391	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGACCTGATCGTACGTGTGT	0.587000													5	56					0	0	0.000602	0	0
DLK1	8788	broad.mit.edu	37	14	101200537	101200537	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:101200537C>T	ENST00000341267.4	+	5	698	c.456C>T	c.(454-456)tcC>tcT	p.S152S	DLK1_ENST00000331224.6_Silent_p.S152S	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	152	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCCGGGCCTCCCATGCCTCCT	0.632000													23	44					0	0	0.002299	0	0
RBP3	5949	broad.mit.edu	37	10	48388744	48388744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:48388744C>T	ENST00000224600.4	-	1	2247	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	712	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGTGCTTCCTCTACCACC	0.627000													20	54					0	0	0.001523	0	0
FAM129A	116496	broad.mit.edu	37	1	184764696	184764696	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:184764696C>T	ENST00000367511.3	-	14	2395	c.2202G>A	c.(2200-2202)acG>acA	p.T734T	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	734	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCCCCATTCGTATCTTCTT	0.522000													35	120					0	0	0.006230	0	0
HYDIN	54768	broad.mit.edu	37	16	70995892	70995892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70995892C>T	ENST00000393567.2	-	38	6088	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1980	Poly-Glu.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCTTTCCTCATCCTCCTCT	0.458000													20	50					0	0	0.002096	0	0
CPNE4	131034	broad.mit.edu	37	3	131274382	131274382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:131274382G>A	ENST00000512055.1	-	16	3201	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	CPNE4_ENST00000502818.1_Missense_Mutation_p.P377S|CPNE4_ENST00000429747.1_Missense_Mutation_p.P359S|CPNE4_ENST00000511604.1_Missense_Mutation_p.P359S|CPNE4_ENST00000512332.1_Missense_Mutation_p.P377S			Q96A23	CPNE4_HUMAN	copine IV	359	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCAAAGGCAGGGAACATTTTG	0.388000													20	41					0	0	0.001882	0	0
ZNF74	7625	broad.mit.edu	37	22	20749677	20749677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20749677C>T	ENST00000400451.2	+	2	603	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ZNF74_ENST00000357502.5_Silent_p.I35I|ZNF74_ENST00000405993.1_Missense_Mutation_p.S30L|ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000356671.5_Missense_Mutation_p.S30L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	30					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGATATATCGGGTTGGGGT	0.542000													33	59					0	0	0.005524	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457331	110457331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110457331G>A	ENST00000378402.5	+	38	5337	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1745					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCATACTTAGAAAGCATCAC	0.448000										HNSCC(38;0.096)			59	84					0	0	0.003610	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43678511	43678511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:43678511C>T	ENST00000564079.1	+	9	1237	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.R333C|TUBGCP4_ENST00000399460.3_Missense_Mutation_p.R197C	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	333					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.R333C(1)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GGATCGCATTCGCAGCACTGT	0.358000													29	54					0	0	0.001786	0	0
FAP	2191	broad.mit.edu	37	2	163070513	163070513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:163070513G>A	ENST00000188790.4	-	11	1144	c.937C>T	c.(937-939)Cag>Tag	p.Q313*	FAP_ENST00000443424.1_Nonsense_Mutation_p.Q288*	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	313					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GAAACATTCTGGACTCTTTTT	0.403000													42	77					0	0	0.008740	0	0
IGFL3	388555	broad.mit.edu	37	19	46627208	46627208	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:46627208C>T	ENST00000341415.2	-	3	309	c.285G>A	c.(283-285)gtG>gtA	p.V95V	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	95						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CCCTCAACTTCACAAGAAACT	0.532000													66	78					0	0	0.003610	0	0
OR13G1	441933	broad.mit.edu	37	1	247836281	247836281	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247836281C>T	ENST00000359688.2	-	1	84	c.63G>A	c.(61-63)caG>caA	p.Q21Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGATAATTCCCTGGAGTTCAG	0.418000													16	44					0	0	0.004990	0	0
IL7R	3575	broad.mit.edu	37	5	35867483	35867483	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35867483C>T	ENST00000303115.3	+	3	426	c.297C>T	c.(295-297)ttC>ttT	p.F99F	IL7R_ENST00000511982.1_Silent_p.F99F|IL7R_ENST00000506850.1_Silent_p.F99F|IL7R_ENST00000343305.4_Silent_p.F99F|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	99					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAAGAAATTCTTACTGATTG	0.368000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						21	62					0	0	0.002780	0	0
TRIM25	7706	broad.mit.edu	37	17	54990976	54990976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:54990976G>A	ENST00000316881.4	-	1	423	c.374C>T	c.(373-375)tCc>tTc	p.S125F	TRIM25_ENST00000537230.1_Missense_Mutation_p.S125F	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	125					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTGACAGAAGGAGGCCATGCA	0.692000													14	25					0	0	0.002450	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913356	77913356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:77913356G>A	ENST00000321110.1	-	2	857	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	188	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGCTCCTGGGGAGGTGGAAGC	0.542000													14	8					0	0	0.002450	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23689359	23689359	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23689359C>T	ENST00000567107.1	-	4	296	c.243_splice	c.e4-1	p.E82_splice	GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Splice_Site_p.E82_splice					golgin A6 family-like 2											breast(1)|endometrium(7)	8						GCCTTCTTTTCCTATAGAAAG	0.537000													4	4					0	0	0.000248	0	0
EBF1	1879	broad.mit.edu	37	5	158140034	158140034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:158140034G>A	ENST00000313708.6	-	13	1595	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	EBF1_ENST00000517373.1_Missense_Mutation_p.S430L|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.S407L	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	438					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACTGAACGAATTCACGCC	0.577000			T	HMGA2	lipoma								27	25					0	0	0.006320	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075166	86075166	+	Silent	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:86075166A>T	ENST00000377332.3	-	4	588	c.480T>A	c.(478-480)ccT>ccA	p.P160P	ST3GAL5_ENST00000393805.1_Silent_p.P132P|ST3GAL5_ENST00000393808.3_Silent_p.P137P	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	160					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCCAAAAGGAGGATCGTACT	0.517000													87	176					0	0	0.003610	0	0
PNLIP	5406	broad.mit.edu	37	10	118314901	118314901	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:118314901G>A	ENST00000369221.2	+	8	721	c.691_splice	c.e8-1	p.G231_splice		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	231					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGATTTCAGGGTTTGGAATGA	0.428000													24	53					0	0	0.003954	0	0
ARSH	347527	broad.mit.edu	37	X	2951252	2951252	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:2951252C>T	ENST00000381130.2	+	9	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	505						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATTTGACTCCGTGATCAAAA	0.488000													12	10					0	0	0.001368	0	0
KIF5B	3799	broad.mit.edu	37	10	32326471	32326471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:32326471G>A	ENST00000302418.4	-	7	1020	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	188	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATGTCTGTTGGATTTTCCTTC	0.328000			T	"""RET, ALK"""	NSCLC								18	28					0	0	0.008871	0	0
WDR49	151790	broad.mit.edu	37	3	167322228	167322228	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:167322228G>A	ENST00000453925.2	-	2	157	c.123C>T	c.(121-123)atC>atT	p.I41I	WDR49_ENST00000479765.1_Silent_p.I329I|WDR49_ENST00000308378.3_5'UTR			Q8IV35	WDR49_HUMAN	WD repeat domain 49	163										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TACTGGAAATGATAGCGTCTA	0.343000													6	15					0	0	0.001168	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554022	135554022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:135554022C>T	ENST00000372146.4	+	2	1580	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	339					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCTTTTGGACCCATAAAAATT	0.418000													33	35					0	0	0.002445	0	0
ADCYAP1	116	broad.mit.edu	37	18	908329	908329	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:908329G>A	ENST00000579794.1	+	3	584	c.306G>A	c.(304-306)ggG>ggA	p.G102G	ADCYAP1_ENST00000450565.3_Silent_p.G102G	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	102					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCCGCCGGGAAGCACCTGC	0.677000													20	39					0	0	0.003330	0	0
C1orf168	199920	broad.mit.edu	37	1	57257918	57257918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57257918C>T	ENST00000343433.6	-	2	648	c.568G>A	c.(568-570)Gga>Aga	p.G190R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	190										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTCTGGGCTCCTTTTGTTTCC	0.468000													30	85					0	0	0.002445	0	0
RBM17	84991	broad.mit.edu	37	10	6157213	6157213	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6157213C>T	ENST00000446108.1	+	11	1685	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Silent_p.A347A	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	347	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TTCCTGGTGCCCCTGATGATG	0.343000													13	19					0	0	0.002450	0	0
FLG2	388698	broad.mit.edu	37	1	152329660	152329660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152329660G>A	ENST00000388718.5	-	3	674	c.602C>T	c.(601-603)tCt>tTt	p.S201F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	201	Ser-rich.						calcium ion binding|structural molecule activity			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)			CAGTTCTACAGAGCTGGAACC	0.468000													66	213					0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647961	121647961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121647961C>T	ENST00000489711.1	+	16	1862	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.R461C|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	492					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTGTCATTCGTGAAGATGG	0.398000													66	135					0	0	0.003610	0	0
ZFP91	80829	broad.mit.edu	37	11	58380311	58380311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58380311C>T	ENST00000316059.6	+	8	1156	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	ZFP91-CNTF_ENST00000389919.4_Nonsense_Mutation_p.Q329*	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	329					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCGCTATTTGCAGGTCAGTGA	0.408000													27	75					0	0	0.006320	0	0
AK5	26289	broad.mit.edu	37	1	77763519	77763519	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:77763519G>A	ENST00000344720.5	+	5	1534	c.507_splice	c.e5-1	p.E170_splice	AK5_ENST00000354567.2_Splice_Site_p.E196_splice|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	196					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTTATAAAAGGAAACAACAAT	0.333000													18	34					0	0	0.008871	0	0
ZNF22	7570	broad.mit.edu	37	10	45499485	45499485	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45499485C>T	ENST00000298299.3	+	2	1262	c.669C>T	c.(667-669)ctC>ctT	p.L223L	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	223				GRKSVAGLR -> EGSLWLVSVKYRAF (in Ref. 1; AAB24264).	odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TGGCTGGTCTCCGTTAAGTAT	0.383000													31	69					0	0	0.003755	0	0
REN	5972	broad.mit.edu	37	1	204135391	204135391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204135391C>T	ENST00000367195.2	-	1	74	c.31G>A	c.(31-33)Gga>Aga	p.G11R	REN_ENST00000272190.8_Missense_Mutation_p.G11R			P00797	RENI_HUMAN	renin	11					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCAGCAGTCCCCAGCGAGGC	0.567000													13	67					0	0	0.002450	0	0
MPP6	51678	broad.mit.edu	37	7	24690276	24690276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:24690276G>A	ENST00000396475.2	+	6	895	c.596G>A	c.(595-597)gGa>gAa	p.G199E	MPP6_ENST00000409761.1_Missense_Mutation_p.G87E|MPP6_ENST00000222644.4_Missense_Mutation_p.G199E	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	199	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AATATTAGTGGAAGTGTCACC	0.308000													12	32					0	0	0.000978	0	0
ZADH2	284273	broad.mit.edu	37	18	72913660	72913660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:72913660G>A	ENST00000322342.3	-	2	1134	c.845C>T	c.(844-846)tCg>tTg	p.S282L	ZADH2_ENST00000537114.2_Missense_Mutation_p.S159L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	282						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TTTCACAGGCGAAAGGCCAGT	0.507000													32	46					0	0	0.003271	0	0
ANO2	57101	broad.mit.edu	37	12	5708726	5708726	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:5708726C>T	ENST00000327087.8	-	21	2228	c.2157G>A	c.(2155-2157)tcG>tcA	p.S719S	ANO2_ENST00000546188.1_Silent_p.S720S|ANO2_ENST00000356134.5_Silent_p.S720S			Q9NQ90	ANO2_HUMAN	anoctamin 2	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGATGTTTCGAATGGGCAG	0.453000													56	94					0	0	0.003610	0	0
DDX60L	91351	broad.mit.edu	37	4	169305791	169305791	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169305791C>G	ENST00000511577.1	-	30	4335	c.4088G>C	c.(4087-4089)gGa>gCa	p.G1363A	DDX60L_ENST00000260184.7_Missense_Mutation_p.G1363A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1363							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGGGTCATCTCCCTTGGAAGC	0.532000													5	25					0	0	0.001984	0	0
KDM6B	23135	broad.mit.edu	37	17	7754526	7754526	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7754526C>T	ENST00000254846.5	+	14	4250	c.3861C>T	c.(3859-3861)tcC>tcT	p.S1287S	KDM6B_ENST00000448097.2_Silent_p.S1287S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1287					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGCCTCATCCTTCCAGGAGT	0.607000													36	25					0	0	0.006999	0	0
ZIC4	84107	broad.mit.edu	37	3	147113707	147113707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:147113707G>A	ENST00000383075.3	-	3	1132	c.620C>T	c.(619-621)cCt>cTt	p.P207L	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.P245L|ZIC4_ENST00000525172.2_Missense_Mutation_p.P257L|ZIC4_ENST00000484399.1_Missense_Mutation_p.P207L|ZIC4_ENST00000473123.1_Missense_Mutation_p.P207L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	207						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCCCGGGAAAGGACAAGGGAA	0.527000													52	75					0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2836311	2836311	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2836311A>T	ENST00000520002.1	-	56	8947	c.8392T>A	c.(8392-8394)Tct>Act	p.S2798T	CSMD1_ENST00000400186.3_Missense_Mutation_p.S2740T|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2740T|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2739T|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2797T|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2798T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2798	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGGATCAGAACAGTTCACC	0.393000													8	18					0	0	0.003080	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531873	75531873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:75531873C>T	ENST00000297785.3	-	9	1052	c.998G>A	c.(997-999)gGa>gAa	p.G333E		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	333					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGAGGATTTCCAAGGATATA	0.433000													28	31					0	0	0.002096	0	0
LAMP5	24141	broad.mit.edu	37	20	9510436	9510436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:9510436G>A	ENST00000246070.2	+	6	1304	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	LAMP5_ENST00000427562.2_Missense_Mutation_p.R227Q	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	271						integral to membrane											CAGATCCCTCGGGACAGATCC	0.537000													30	58					0	0	0.001786	0	0
BRINP3	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:190067177C>T	ENST00000367462.3	-	8	2503	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	FAM5C_ENST00000534846.1_Missense_Mutation_p.D656N|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		758						extracellular region		p.D758H(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000													34	138					0	0	0.004878	0	0
DNAH8	1769	broad.mit.edu	37	6	38770971	38770971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38770971G>A	ENST00000359357.3	+	20	2521	c.2267G>A	c.(2266-2268)tGg>tAg	p.W756*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W756*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.W973*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAAAAGAATGGGCTGACATT	0.299000													20	27					0	0	0.002299	0	0
LMO7	4008	broad.mit.edu	37	13	76395452	76395452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:76395452G>A	ENST00000357063.3	+	15	3763	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	LMO7_ENST00000341547.4_Missense_Mutation_p.G501R|LMO7_ENST00000377534.3_Missense_Mutation_p.G835R|LMO7_ENST00000526202.1_Missense_Mutation_p.G400R|LMO7_ENST00000321797.8_Missense_Mutation_p.G550R|LMO7_ENST00000465261.2_Missense_Mutation_p.G550R			Q8WWI1	LMO7_HUMAN	LIM domain 7	835						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAAGAGAAGGGAGCAACTTA	0.428000													23	31					0	0	0.002299	0	0
BMP3	651	broad.mit.edu	37	4	81967371	81967371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:81967371C>T	ENST00000282701.2	+	2	1116	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	266					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCGGAATTTTCCCACTGGAAC	0.498000													45	73					0	0	0.002522	0	0
OR5K1	26339	broad.mit.edu	37	3	98189268	98189268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98189268C>T	ENST00000332650.5	+	1	945	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATAGTAGTTCCCTTACTAAAT	0.308000													19	56					0	0	0.007413	0	0
DDX55	57696	broad.mit.edu	37	12	124090489	124090489	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:124090489C>T	ENST00000238146.4	+	2	170	c.120C>T	c.(118-120)atC>atT	p.I40I	DDX55_ENST00000538744.1_Silent_p.I40I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	40	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCGCAACCATCCCTCTGTTCA	0.507000													37	43					0	0	0.008740	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142161994	142161994	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142161994G>A	ENST00000390371.3	-	0	324																											CAGCCTGAGCGGGAAATACTC	0.498000													77	132					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207914	123207914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:123207914G>A	ENST00000264501.4	+	53	9629	c.9256G>A	c.(9256-9258)Gga>Aga	p.G3086R	KIAA1109_ENST00000455637.1_Missense_Mutation_p.G3086R|KIAA1109_ENST00000388738.3_Missense_Mutation_p.G3086R			Q2LD37	K1109_HUMAN	KIAA1109	3086					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTATTTACAGGGAAATTATCT	0.328000													18	39					0	0	0.006122	0	0
OR1N2	138882	broad.mit.edu	37	9	125315992	125315992	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125315992C>G	ENST00000373688.2	+	1	602	c.544C>G	c.(544-546)Cgc>Ggc	p.R182G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTTGCTGACCCGCGTGGCTTT	0.522000													19	36					0	0	0.005443	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603646	138603646	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:138603646G>A	ENST00000440172.1	-	2	774	c.726C>T	c.(724-726)atC>atT	p.I242I	KIAA1549_ENST00000242365.4_Silent_p.I192I|KIAA1549_ENST00000422774.1_Silent_p.I242I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	242						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGTTGGAACGATGCCCTCAG	0.522000			O	BRAF	pilocytic astrocytoma								40	85					0	0	0.006999	0	0
ASTN1	460	broad.mit.edu	37	1	176853571	176853571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:176853571C>T	ENST00000367654.2	-	19	3167	c.3154G>A	c.(3154-3156)Gaa>Aaa	p.E1052K	ASTN1_ENST00000367657.3_Missense_Mutation_p.E1044K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1044K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E1044K			O14525	ASTN1_HUMAN	astrotactin 1	1052	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E1044*(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGAGTGTTCCCACTCCAGG	0.537000													38	75					0	0	0.004878	0	0
FZD7	8324	broad.mit.edu	37	2	202899380	202899380	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:202899380C>A	ENST00000286201.1	+	1	71	c.10C>A	c.(10-12)Ccc>Acc	p.P4T		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	4					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GATGCGGGACCCCGGCGCGGC	0.771000													25	41					1.77063e-15	3.67756e-15	0.005443	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87445350	87445350	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:87445350T>A	ENST00000268616.4	-	12	2783	c.2566A>T	c.(2566-2568)Agc>Tgc	p.S856C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	856					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTCCCGCTGCTGCTGTAAGGG	0.657000													18	20					0	0	0.008871	0	0
IQUB	154865	broad.mit.edu	37	7	123150013	123150013	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:123150013C>T	ENST00000466202.1	-	3	1050	c.474G>A	c.(472-474)aaG>aaA	p.K158K	IQUB_ENST00000434450.1_Silent_p.K158K|IQUB_ENST00000324698.6_Silent_p.K158K|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	158	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAAAATGGTCCTTAAGATATT	0.318000													100	208					0	0	0.003610	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756229	145756229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:145756229C>T	ENST00000276826.5	-	9	3115	c.2914G>A	c.(2914-2916)Gag>Aag	p.E972K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E972K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E1003K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	972	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCTCCAGCTCCCGGTACCAC	0.721000													32	22					0	0	0.003755	0	0
PTPRT	11122	broad.mit.edu	37	20	41101171	41101171	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:41101171G>A	ENST00000373198.3	-	8	1420	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	PTPRT_ENST00000373184.1_Silent_p.I395I|PTPRT_ENST00000373190.1_Silent_p.I395I|PTPRT_ENST00000373193.3_Silent_p.I395I|PTPRT_ENST00000356100.2_Silent_p.I395I|PTPRT_ENST00000373201.1_Silent_p.I395I|PTPRT_ENST00000373187.1_Silent_p.I395I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	395	Fibronectin type-III 2.		I -> V (in a colorectal cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGATGTCTACGATTTCCACGT	0.567000													15	35					0	0	0.007413	0	0
ABCC10	89845	broad.mit.edu	37	6	43413384	43413384	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:43413384C>T	ENST00000244533.3	+	13	3353	c.2994C>T	c.(2992-2994)aaC>aaT	p.N998N	ABCC10_ENST00000372530.4_Silent_p.N1026N	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1026	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATCCTAAACCGCTTCTCCT	0.627000													30	122					0	0	0.003755	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635652	141635652	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141635652C>T	ENST00000546910.1	-	5	503	c.307G>A	c.(307-309)Gga>Aga	p.G103R	CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.G80R|CLEC5A_ENST00000551012.2_Missense_Mutation_p.G80R|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	103	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AATGTGGATCCTTTTCCTTTG	0.448000													45	74					0	0	0.003610	0	0
HFM1	164045	broad.mit.edu	37	1	91816348	91816348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:91816348C>T	ENST00000370425.3	-	18	2251	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Nonsense_Mutation_p.W397*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	718	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATCGTATCCATTCCACAGC	0.343000													34	72					0	0	0.004878	0	0
OR5T2	219464	broad.mit.edu	37	11	55999628	55999628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55999628C>T	ENST00000313264.4	-	1	1109	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTGATTTTTCCCAAACATTTT	0.318000													17	20					0	0	0.004007	0	0
C1orf173	127254	broad.mit.edu	37	1	75072535	75072535	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:75072535C>T	ENST00000326665.5	-	10	1457	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	C1orf173_ENST00000420661.2_Silent_p.R216R|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	413										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTCTTTCCTAGATTTCG	0.413000													36	78					0	0	0.006230	0	0
TTN	7273	broad.mit.edu	37	2	179621435	179621435	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179621435C>T	ENST00000589042.1	-	46	10992	c.10768G>A	c.(10768-10770)Gag>Aag	p.E3590K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3419K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3276			L -> V.				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)			ATTTTGCTCTCCTCCTTTGTG	0.408000													29	44					0	0	0.006320	0	0
OR4M2	390538	broad.mit.edu	37	15	22369287	22369287	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22369287G>C	ENST00000332663.2	+	1	810	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACCAACAGGGCCATGTCCAC	0.453000													35	165					0	0	0.002522	0	0
IKBKE	9641	broad.mit.edu	37	1	206653802	206653802	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206653802G>C	ENST00000367120.3	+	13	1726	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	IKBKE_ENST00000537984.1_Missense_Mutation_p.Q366H|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	451	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AGGTGCTCCAGGCCACATGCA	0.617000													7	37					0	0	0.003080	0	0
OR51A7	119687	broad.mit.edu	37	11	4928917	4928917	+	Silent	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4928917A>T	ENST00000359350.4	+	1	318	c.318A>T	c.(316-318)ggA>ggT	p.G106G	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCATTCATGGATTCACTGTCA	0.428000													24	74					0	0	0.004656	0	0
APOL4	80832	broad.mit.edu	37	22	36587654	36587654	+	Silent	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:36587654C>A	ENST00000332987.1	-	7	935	c.513G>T	c.(511-513)ggG>ggT	p.G171G	APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000352371.1_Silent_p.G174G|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	175					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCAGCCCTACCCCAGCTGCAG	0.567000													11	5					1.58986e-06	3.28267e-06	0.008291	1	0
ABCA10	10349	broad.mit.edu	37	17	67149479	67149479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67149479G>A	ENST00000269081.4	-	35	5012	c.4103C>T	c.(4102-4104)aCc>aTc	p.T1368I	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1368	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTCCATCCCGGTGAACGGCTC	0.507000													48	88					0	0	0.003610	0	0
TMEM67	91147	broad.mit.edu	37	8	94792928	94792928	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:94792928C>T	ENST00000453321.3	+	8	880	c.822C>T	c.(820-822)atC>atT	p.I274I	TMEM67_ENST00000409623.3_Silent_p.I193I|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	274					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTCAGTTTATCTTTGAAAATA	0.338000													49	112					0	0	0.003610	0	0
CP	1356	broad.mit.edu	37	3	148925385	148925385	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:148925385A>G	ENST00000264613.6	-	5	1063	c.801T>C	c.(799-801)ttT>ttC	p.F267F		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	267	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGAGACTTCCAAAAGTGTATC	0.403000													28	38					0	0	0.008361	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710888	14710888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14710888G>A	ENST00000547437.1	+	12	865	c.788G>A	c.(787-789)gGc>gAc	p.G263D	CLEC17A_ENST00000397439.2_Missense_Mutation_p.G246D|CLEC17A_ENST00000417570.1_Missense_Mutation_p.G263D	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCCTTTGAGGGCAAGTGTTAC	0.527000													16	34					0	0	0.007413	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529598	5529598	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5529598G>A	ENST00000311659.4	-	2	1338	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	397										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACTCCTCGGGGAGAGGCT	0.572000													46	96					0	0	0.003610	0	0
C8B	732	broad.mit.edu	37	1	57411683	57411683	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57411683G>A	ENST00000543257.1	-	8	1326	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	C8B_ENST00000535057.1_Silent_p.L244L|C8B_ENST00000371237.4_Silent_p.L306L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	306	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTGGGTTTCAGCTTGTAATGT	0.458000													27	42					0	0	0.004656	0	0
OR2T34	127068	broad.mit.edu	37	1	248737705	248737705	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248737705G>A	ENST00000328782.2	-	1	375	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCAGGAGGAAAACCTCAG	0.562000													25	53					0	0	0.002836	0	0
YLPM1	56252	broad.mit.edu	37	14	75248989	75248989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75248989C>T	ENST00000325680.7	+	4	2367	c.2243C>T	c.(2242-2244)cCt>cTt	p.P748L	YLPM1_ENST00000238571.3_Missense_Mutation_p.P553L|YLPM1_ENST00000552421.1_Missense_Mutation_p.P748L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTCCAGATCCTCCTAGAAGT	0.448000													33	71					0	0	0.005524	0	0
DDX60L	91351	broad.mit.edu	37	4	169305793	169305793	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169305793C>T	ENST00000511577.1	-	30	4333	c.4086G>A	c.(4084-4086)aaG>aaA	p.K1362K	DDX60L_ENST00000260184.7_Silent_p.K1362K			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1362							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGTCATCTCCCTTGGAAGCCA	0.542000													5	26					0	0	0.001984	0	0
PYROXD2	84795	broad.mit.edu	37	10	100159935	100159935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:100159935G>A	ENST00000370575.4	-	5	443	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	132							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AAGGCACCTGGGCACCTTGCT	0.557000													15	61					0	0	0.002450	0	0
SCUBE3	222663	broad.mit.edu	37	6	35200690	35200690	+	Missense_Mutation	SNP	G	G	A	rs149626853		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:35200690G>A	ENST00000274938.7	+	5	533	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SCUBE3_ENST00000394681.1_Missense_Mutation_p.G178E	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	178	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						ACACCCAAGGGGGGTATTGCC	0.522000													54	185					0	0	0.003610	0	0
TSIX	9383	broad.mit.edu	37	X	73041921	73041921	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73041921C>T	ENST00000604411.1	+	0	29882				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						AAATGCACTTCAAAACCAATT	0.428000													19	6					0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38768199	38768199	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38768199G>A	ENST00000449082.2	-	16	2984	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	995					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)	TGGGCACAGAGACCCACACAG	0.567000													42	69					0	0	0.002852	0	0
OTOGL	283310	broad.mit.edu	37	12	80632729	80632729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:80632729C>T	ENST00000458043.2	+	9	895	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	OTOGL_ENST00000547103.1_Missense_Mutation_p.P297S	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTCCAAATCCGTGCTCCAG	0.393000													3	7					0	0	0.004672	0	0
MMP12	4321	broad.mit.edu	37	11	102743641	102743641	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:102743641C>T	ENST00000532855.1	-	0	400							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTGGCATTTCCCTGAAATGA	0.507000													10	7					0	0	0.008291	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502462	16502462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:16502462G>A	ENST00000396652.1	-	5	1116	c.404C>T	c.(403-405)cCt>cTt	p.P135L	SOSTDC1_ENST00000307068.4_Missense_Mutation_p.P111L			Q6X4U4	SOSD1_HUMAN	sclerostin domain containing 1	111	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATCCAGTTAGGGAGCACTGG	0.567000													23	48					0	0	0.002780	0	0
OR8I2	120586	broad.mit.edu	37	11	55861680	55861680	+	Silent	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55861680T>A	ENST00000302124.2	+	1	928	c.897T>A	c.(895-897)gcT>gcA	p.A299A	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGAAAAATGCTCTTCTGAGAG	0.398000													12	23					0	0	0.003163	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552900	43552900	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:43552900G>A	ENST00000430334.3	-	4	622	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLEKHM1_ENST00000421073.2_Silent_p.F74F	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	163	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGCTAAGGAGGAACTCGCCCT	0.592000													15	52					0	0	0.002450	0	0
DNAH8	1769	broad.mit.edu	37	6	38891805	38891805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38891805C>T	ENST00000359357.3	+	71	10432	c.10178C>T	c.(10177-10179)tCc>tTc	p.S3393F	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3357F|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3610F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTCCTTTCCTACCTTGGT	0.423000													26	110					0	0	0.005443	0	0
COL5A3	50509	broad.mit.edu	37	19	10112520	10112520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:10112520G>A	ENST00000264828.3	-	7	972	c.887C>T	c.(886-888)cCa>cTa	p.P296L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	296	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCAGATTTGGAGCTGGAGT	0.582000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	97					0	0	0.003271	0	0
FGFR1	2260	broad.mit.edu	37	8	38285945	38285945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:38285945G>A	ENST00000447712.2	-	4	1308	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	FGFR1_ENST00000532791.1_Missense_Mutation_p.P123S|FGFR1_ENST00000425967.3_Missense_Mutation_p.P156S|FGFR1_ENST00000397091.5_Missense_Mutation_p.P123S|FGFR1_ENST00000397103.1_Missense_Mutation_p.P34S|FGFR1_ENST00000397108.4_Missense_Mutation_p.P123S|FGFR1_ENST00000397113.2_Missense_Mutation_p.P123S|FGFR1_ENST00000356207.5_Missense_Mutation_p.P34S|FGFR1_ENST00000341462.5_Missense_Mutation_p.P126S|FGFR1_ENST00000326324.6_Missense_Mutation_p.P34S|FGFR1_ENST00000335922.5_Missense_Mutation_p.P115S	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	123					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCCGAGGAGGGGAGAGCATCT	0.498000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						6	19					0	0	0.001168	0	0
ZNF654	55279	broad.mit.edu	37	3	88189574	88189574	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:88189574A>T	ENST00000309495.5	+	1	1321	c.1114A>T	c.(1114-1116)Aaa>Taa	p.K372*	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAAATCAAGGAAAGAGTCTAC	0.358000													9	30					0	0	0.006214	0	0
CRB1	23418	broad.mit.edu	37	1	197390234	197390234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:197390234G>A	ENST00000367400.3	+	6	1411	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.D125N|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.D314N|CRB1_ENST00000535699.1_Missense_Mutation_p.D357N|CRB1_ENST00000538660.1_Missense_Mutation_p.D426N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	426	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCCCATTTGATAACCTTTC	0.428000													40	106					0	0	0.002222	0	0
OR4A5	81318	broad.mit.edu	37	11	51411990	51411990	+	Nonsense_Mutation	SNP	G	G	A	rs147678903		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:51411990G>A	ENST00000319760.6	-	1	458	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAAACCTGTCGATTCATGATG	0.483000													34	42					0	0	0.002836	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655019	46655019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:46655019G>A	ENST00000371992.1	-	22	2530	c.1880C>T	c.(1879-1881)gCc>gTc	p.A627V	POMGNT1_ENST00000535522.1_Missense_Mutation_p.P614S|POMGNT1_ENST00000371984.3_Missense_Mutation_p.P636S|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.A627V	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	623					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACTGAGGGTGGCTTCTTCACT	0.537000													37	75					0	0	0.002522	0	0
PTPRB	5787	broad.mit.edu	37	12	70980945	70980945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:70980945G>A	ENST00000334414.6	-	9	2197	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	PTPRB_ENST00000538708.1_Missense_Mutation_p.S500F|PTPRB_ENST00000261266.5_Missense_Mutation_p.S500F|PTPRB_ENST00000451516.2_Missense_Mutation_p.S410F|PTPRB_ENST00000551525.1_Missense_Mutation_p.S717F|PTPRB_ENST00000550358.1_Missense_Mutation_p.S718F|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S410F	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	500	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCAGCTAGGGAAATGATGTA	0.478000													15	42					0	0	0.003163	0	0
CREM	1390	broad.mit.edu	37	10	35495854	35495854	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:35495854C>T	ENST00000333809.8	+	7	831	c.777C>T	c.(775-777)atC>atT	p.I259I	CREM_ENST00000395895.2_Silent_p.I271I|CREM_ENST00000395887.3_Silent_p.I192I|CREM_ENST00000374728.3_Silent_p.I131I|CREM_ENST00000337656.4_Silent_p.I210I|CREM_ENST00000361599.4_Silent_p.I180I|CREM_ENST00000429130.3_Silent_p.I255I|CREM_ENST00000460270.1_Silent_p.I6I|CREM_ENST00000439705.1_Silent_p.I196I|CREM_ENST00000463314.1_Silent_p.I48I|CREM_ENST00000374721.3_Silent_p.I180I|CREM_ENST00000354759.3_Silent_p.I159I|CREM_ENST00000490511.1_Silent_p.I23I|CREM_ENST00000487763.1_Silent_p.I31I|CREM_ENST00000468236.1_Silent_p.I35I|CREM_ENST00000479070.1_Silent_p.I222I|CREM_ENST00000488741.1_Silent_p.I13I|CREM_ENST00000348787.2_Silent_p.I131I|CREM_ENST00000374734.3_Silent_p.I147I|CREM_ENST00000473940.1_Silent_p.I31I|CREM_ENST00000474931.1_Silent_p.I23I|CREM_ENST00000344351.5_Silent_p.I6I|CREM_ENST00000484283.1_Silent_p.I129I|CREM_ENST00000463960.1_Silent_p.I104I|CREM_ENST00000356917.5_Silent_p.I19I|CREM_ENST00000342105.3_Silent_p.I155I|CREM_ENST00000345491.3_Silent_p.I210I|CREM_ENST00000488328.1_Silent_p.I19I|CREM_ENST00000474362.1_Silent_p.I6I	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	271					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I23I(1)|p.I192I(1)|p.I210I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTACCAGATCCGAGCTCCTA	0.458000													61	145					0	0	0.003610	0	0
RGL2	5863	broad.mit.edu	37	6	33264531	33264531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33264531G>A	ENST00000497454.1	-	4	758	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.S6F|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	88	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.S88C(1)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGTCGGGAGGAACGTGGGGG	0.577000													20	61					0	0	0.008871	0	0
USH2A	7399	broad.mit.edu	37	1	216040459	216040459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216040459G>A	ENST00000366943.2	-	44	9121	c.8735C>T	c.(8734-8736)cCg>cTg	p.P2912L	USH2A_ENST00000307340.3_Missense_Mutation_p.P2912L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2912	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2912R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCGGCTCGGTGTAAAACC	0.423000										HNSCC(13;0.011)			30	83					0	0	0.001786	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:97726706C>T	ENST00000472788.1	-	0	657					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000													9	13					0	0	0.004482	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423754	25423754	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:25423754C>T	ENST00000441592.2	+	0	325																											CAGTGGTTGTCATCCAGGTGC	0.617000													8	21					0	0	0.003080	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998689	120998689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:120998689G>A	ENST00000273666.6	+	19	2267	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	STXBP5L_ENST00000497029.1_Missense_Mutation_p.D666N|STXBP5L_ENST00000472879.1_Missense_Mutation_p.D666N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D666N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D666N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	666					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGCTGTGGTGGATTTTATACA	0.378000													23	64					0	0	0.007291	0	0
STON2	85439	broad.mit.edu	37	14	81744721	81744721	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:81744721T>C	ENST00000555447.1	-	6	1346	c.934A>G	c.(934-936)Acc>Gcc	p.T312A	STON2_ENST00000267540.2_Missense_Mutation_p.T312A	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	312					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAAGGGTTGGTTGCCCTCCAA	0.498000													37	86					0	0	0.003755	0	0
MAPK10	5602	broad.mit.edu	37	4	87028495	87028495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:87028495C>T	ENST00000395169.3	-	5	853	c.133G>A	c.(133-135)Gat>Aat	p.D45N	MAPK10_ENST00000361569.2_Missense_Mutation_p.D83N|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395166.1_Missense_Mutation_p.D45N|MAPK10_ENST00000395161.2_Missense_Mutation_p.D83N|MAPK10_ENST00000359221.3_Missense_Mutation_p.D83N|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395160.3_5'UTR	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	83					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGGACAGCATCATACGCGGCA	0.443000													14	39					0	0	0.004990	0	0
ZNF99	7652	broad.mit.edu	37	19	22941484	22941484	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:22941484G>A	ENST00000397104.3	-	5	953	c.954C>T	c.(952-954)tcC>tcT	p.S318S	ZNF99_ENST00000596209.1_Silent_p.S409S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGTTTTGAGGACCACTTAA	0.373000													17	42					0	0	0.004007	0	0
GLYAT	10249	broad.mit.edu	37	11	58480261	58480261	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58480261G>A	ENST00000344743.3	-	4	429	c.288C>T	c.(286-288)atC>atT	p.I96I	GLYAT_ENST00000529732.1_Silent_p.I96I|GLYAT_ENST00000278400.3_Silent_p.I96I	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	96					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTTTCCAGTTGATGAGTTCTG	0.393000													25	51					0	0	0.003954	0	0
CD86	942	broad.mit.edu	37	3	121838290	121838290	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121838290A>T	ENST00000330540.2	+	7	1015	c.899A>T	c.(898-900)aAa>aTa	p.K300I	CD86_ENST00000264468.5_Missense_Mutation_p.K87I|CD86_ENST00000469710.1_Missense_Mutation_p.K218I|CD86_ENST00000393627.2_Missense_Mutation_p.K294I|CD86_ENST00000493101.1_Missense_Mutation_p.K188I	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	300					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TCCAGAGAAAAAATCCATATA	0.333000													17	39					0	0	0.008871	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865057	10865057	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10865057C>T	ENST00000254488.2	+	4	669	c.603C>T	c.(601-603)tcC>tcT	p.S201S	SLC6A11_ENST00000454147.1_Silent_p.S201S	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	201					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ATGCCACCTCCCCTGTCATGG	0.493000													18	79					0	0	0.006122	0	0
DLG5	9231	broad.mit.edu	37	10	79581146	79581146	+	Silent	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:79581146G>C	ENST00000372391.2	-	15	3101	c.3096C>G	c.(3094-3096)tcC>tcG	p.S1032S	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1032	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCTGACTCGGAGCTAGTCT	0.657000													22	49					0	0	0.001882	0	0
SNTG2	54221	broad.mit.edu	37	2	1263181	1263181	+	Missense_Mutation	SNP	C	C	T	rs145354756	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1263181C>T	ENST00000308624.5	+	13	1174	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	SNTG2_ENST00000407292.1_Missense_Mutation_p.H222Y	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	349	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.H349Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGGACCTATCACCTCTGTGA	0.413000													27	52					0	0	0.005443	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254246	39254246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39254246G>A	ENST00000333822.4	-	1	147	c.91C>T	c.(91-93)Cag>Tag	p.Q31*		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	31	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGGTGGTCTGACAGCAGCTG	0.632000													8	38					0	0	0.003080	0	0
AKTIP	64400	broad.mit.edu	37	16	53529055	53529055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:53529055C>T	ENST00000300245.4	-	6	561	c.344G>A	c.(343-345)gGa>gAa	p.G115E	AKTIP_ENST00000394657.6_Missense_Mutation_p.G115E|AKTIP_ENST00000570004.1_Missense_Mutation_p.G115E			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	115					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTGGTAAAGTCCATGCCGTAT	0.378000													112	253					0	0	0.003610	0	0
KRT1	3848	broad.mit.edu	37	12	53069303	53069303	+	Missense_Mutation	SNP	C	C	T	rs59169454		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:53069303C>T	ENST00000252244.3	-	9	1667	c.1609G>A	c.(1609-1611)Ggt>Agt	p.G537S		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	537	Gly/Ser-rich.|Tail.		G -> C.		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccatagctaccacctccggag	0.667000													9	8					0	0	0.004482	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81061875	81061875	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:81061875C>T	ENST00000334512.5	+	18	2603	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	677					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCACCTCTTCGTGCTGCAGC	0.632000													61	107					0	0	0.003610	0	0
NR1D2	9975	broad.mit.edu	37	3	23996175	23996175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:23996175C>T	ENST00000312521.4	+	2	483	c.164C>T	c.(163-165)cCc>cTc	p.P55L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	55					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATGGTAATCCCAAGAATGGT	0.418000													26	112					0	0	0.007291	0	0
EXPH5	23086	broad.mit.edu	37	11	108383909	108383909	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:108383909C>T	ENST00000265843.4	-	6	2435	c.2325G>A	c.(2323-2325)agG>agA	p.R775R	EXPH5_ENST00000525344.1_Silent_p.R768R|EXPH5_ENST00000428840.1_Silent_p.R699R|EXPH5_ENST00000443411.1_Silent_p.R587R	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	775					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTATCTTTCCTGGAAAAGA	0.378000													56	56					0	0	0.003610	0	0
REG3A	5068	broad.mit.edu	37	2	79385460	79385460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:79385460G>A	ENST00000393878.1	-	3	579	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	REG3A_ENST00000305165.2_Missense_Mutation_p.P109S|REG3A_ENST00000409839.3_Missense_Mutation_p.P109S	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	109	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.P109T(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACCTGTGTGGGGTCATGGAGC	0.572000													18	38					0	0	0.008871	0	0
LAMA1	284217	broad.mit.edu	37	18	6958515	6958515	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:6958515G>T	ENST00000389658.3	-	55	8018	c.7925C>A	c.(7924-7926)tCg>tAg	p.S2642*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2642	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCATGGAACGATCTTCTCAT	0.463000													17	62					9.16793e-09	1.89667e-08	0.004990	1	0
NPAS4	266743	broad.mit.edu	37	11	66191412	66191412	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:66191412C>T	ENST00000311034.2	+	7	1227	c.1051C>T	c.(1051-1053)Ctt>Ttt	p.L351F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	351					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGAAAACATTCTTTCCCAGGA	0.577000													68	158					0	0	0.003610	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453052	64453052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:64453052G>A	ENST00000394323.2	-	2	853	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		118						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						aaagtataaggatacgacatc	0.428000													16	25					0	0	0.004007	0	0
ZEB2	9839	broad.mit.edu	37	2	145147368	145147368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:145147368C>T	ENST00000558170.2	-	10	4479	c.3295G>A	c.(3295-3297)Ggg>Agg	p.G1099R	ZEB2_ENST00000409487.3_Missense_Mutation_p.G1099R|ZEB2_ENST00000539609.3_Missense_Mutation_p.G1075R|ZEB2_ENST00000303660.4_Missense_Mutation_p.G1099R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1099	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCAAGTGCCCTTTCTCGCGC	0.617000													30	63					0	0	0.008361	0	0
OTOGL	283310	broad.mit.edu	37	12	80729895	80729895	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:80729895C>T	ENST00000458043.2	+	38	4554	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	OTOGL_ENST00000547103.1_Silent_p.I1504I	NM_173591.3	NP_775862.3			otogelin-like									p.I1516I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACAGTGATATCTGCTGCCCTG	0.413000													18	17					0	0	0.006122	0	0
IL27	246778	broad.mit.edu	37	16	28515226	28515226	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:28515226G>A	ENST00000356897.1	-	2	199	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	59			S -> A (in dbSNP:rs17855750).		inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCCGAACCTCGGAGAGCAGCT	0.652000													33	37					0	0	0.004289	0	0
ABR	29	broad.mit.edu	37	17	912972	912972	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:912972G>A	ENST00000544583.2	-	21	2750	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	ABR_ENST00000302538.5_Silent_p.S763S|ABR_ENST00000543210.2_Silent_p.S214S|ABR_ENST00000291107.2_Silent_p.S726S|ABR_ENST00000536794.2_Silent_p.S545S|ABR_ENST00000574437.1_Silent_p.S717S|ABR_ENST00000572441.1_Intron	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	763	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGTCGGGCAGGGAGCGGAGCA	0.622000													34	26					0	0	0.002522	0	0
ADH1C	126	broad.mit.edu	37	4	100273856	100273856	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100273856C>T	ENST00000515683.1	-	0	328				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTCTGCAGACCAGGAGGCTG	0.353000													28	69					0	0	0.003271	0	0
RC3H1	149041	broad.mit.edu	37	1	173952619	173952619	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173952619G>C	ENST00000367696.2	-	4	880	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	RC3H1_ENST00000258349.4_Missense_Mutation_p.Q177E|RC3H1_ENST00000367694.2_Missense_Mutation_p.Q177E			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	177					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGAGTTGCTGAGGATTCTGG	0.463000													18	72					0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31591449	31591449	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31591449C>T	ENST00000379416.3	-	19	2106	c.2058G>A	c.(2056-2058)gtG>gtA	p.V686V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	686					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGTGATTTTCACCCCTTGGG	0.502000													30	48					0	0	0.002836	0	0
LTBP2	4053	broad.mit.edu	37	14	75078537	75078537	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75078537C>T	ENST00000261978.4	-	1	497	c.111G>A	c.(109-111)agG>agA	p.R37R	LTBP2_ENST00000556690.1_Silent_p.R37R|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	37			R -> M (in dbSNP:rs934996).		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTACGGGGTCCCTTTGGGCAT	0.706000													11	30					0	0	0.001368	0	0
GRIN2D	2906	broad.mit.edu	37	19	48946532	48946532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48946532G>A	ENST00000263269.3	+	13	3437	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	1117						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGACTCGGAGGACTCGGAGAG	0.786000													8	5					0	0	0.006214	0	0
C10orf12	26148	broad.mit.edu	37	10	98744512	98744512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:98744512C>T	ENST00000286067.2	+	1	3472	c.3365C>T	c.(3364-3366)cCt>cTt	p.P1122L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1122										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCAAAACCCCTGCTGCCAAG	0.522000													18	34					0	0	0.008871	0	0
ABCA10	10349	broad.mit.edu	37	17	67149478	67149478	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67149478G>A	ENST00000269081.4	-	35	5013	c.4104C>T	c.(4102-4104)acC>acT	p.T1368T	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1368	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTCCATCCCGGTGAACGGCT	0.507000													49	88					0	0	0.003610	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130716	20130716	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20130716A>G	ENST00000334554.7	+	10	1704	c.1563A>G	c.(1561-1563)ctA>ctG	p.L521L	ZDHHC8_ENST00000405930.3_Silent_p.L521L|ZDHHC8_ENST00000320602.7_Silent_p.L429L	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	521						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACGGCCCCTACCCCGCAGCT	0.711000													18	25					0	0	0.001882	0	0
TMEM230	29058	broad.mit.edu	37	20	5090008	5090008	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:5090008G>A	ENST00000379286.2	-	3	489	c.69C>T	c.(67-69)tcC>tcT	p.S23S	TMEM230_ENST00000379279.2_Silent_p.S23S|TMEM230_ENST00000342308.5_Silent_p.S86S|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379277.2_Silent_p.S23S|TMEM230_ENST00000379283.2_Silent_p.S23S|TMEM230_ENST00000202834.7_Silent_p.S23S	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	23						integral to membrane											CGTCTGTGCTGGAGAGCCTTG	0.458000													12	28					0	0	0.001855	0	0
AADAC	13	broad.mit.edu	37	3	151532020	151532020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151532020C>T	ENST00000232892.6	+	1	196	c.70C>T	c.(70-72)Cca>Tca	p.P24S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.P24S	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	24					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TACGCCTCTCCCAGATAACGT	0.403000													23	61					0	0	0.003330	0	0
C8orf74	203076	broad.mit.edu	37	8	10555383	10555383	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:10555383G>A	ENST00000304519.5	+	3	545	c.516G>A	c.(514-516)acG>acA	p.T172T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	172										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCACACTGACGGAGGCCGAGG	0.687000													15	33					0	0	0.002450	0	0
ANKRD36	375248	broad.mit.edu	37	2	97860484	97860484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:97860484C>T	ENST00000420699.2	+	39	2715	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	ANKRD36_ENST00000461153.2_Missense_Mutation_p.A824V	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	824										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAAAAACCAGCCTTGAAGGTA	0.338000													5	16					0	0	0.004482	0	0
PRKCG	5582	broad.mit.edu	37	19	54395022	54395022	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:54395022G>A	ENST00000263431.3	+	6	906	c.624G>A	c.(622-624)acG>acA	p.T208T	PRKCG_ENST00000540413.1_Silent_p.T208T|PRKCG_ENST00000542049.1_Silent_p.T95T|PRKCG_ENST00000536044.1_Silent_p.T208T	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	208	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T208T(2)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGAACCTGACGAAACAGAAGA	0.522000													30	27					0	0	0.001786	0	0
FZD7	8324	broad.mit.edu	37	2	202899381	202899381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:202899381C>T	ENST00000286201.1	+	1	72	c.11C>T	c.(10-12)cCc>cTc	p.P4L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	4					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ATGCGGGACCCCGGCGCGGCC	0.766000													24	41					0	0	0.005443	0	0
RANBP10	57610	broad.mit.edu	37	16	67768907	67768907	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:67768907C>T	ENST00000317506.3	-	6	745	c.630G>A	c.(628-630)ggG>ggA	p.G210G	RANBP10_ENST00000425512.2_Silent_p.G78G|RANBP10_ENST00000602677.1_Silent_p.G210G|RANBP10_ENST00000411657.2_Silent_p.G93G|RANBP10_ENST00000448631.2_Silent_p.G154G|RANBP10_ENST00000536251.1_5'UTR	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	210	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCACAATCTCCCCAGGTGTCT	0.597000													22	45					0	0	0.002780	0	0
CFB	629	broad.mit.edu	37	6	31912612	31912612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31912612G>A	ENST00000556679.1	+	13	1607	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	CFB_ENST00000456570.1_Missense_Mutation_p.D518N|C2_ENST00000469372.1_Missense_Mutation_p.D425N|C2_ENST00000468407.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.D442N|C2_ENST00000452323.2_Missense_Mutation_p.D457N|C2_ENST00000299367.5_Missense_Mutation_p.D671N|C2_ENST00000442278.2_Missense_Mutation_p.D539N			P00751	CFAB_HUMAN	complement factor B	691	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GACCCAGGAGGATGAGAGTCC	0.567000													61	235					0	0	0.003610	0	0
GALNT13	114805	broad.mit.edu	37	2	155099418	155099418	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:155099418G>A	ENST00000392825.3	+	6	1253	c.686_splice	c.e6+1	p.R229_splice	GALNT13_ENST00000409237.1_Splice_Site_p.R229_splice	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	229						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGAAGACAGGTAAGAATTT	0.433000													6	20					0	0	0.001984	0	0
NKAIN4	128414	broad.mit.edu	37	20	61875382	61875382	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:61875382C>T	ENST00000370316.3	-	5	615	c.526G>A	c.(526-528)Gac>Aac	p.D176N	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.D114N|NKAIN4_ENST00000370313.1_Missense_Mutation_p.D114N	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	176						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCACAGCTGTCCTCTTCCTCC	0.637000													13	20					0	0	0.001855	0	0
GRIA2	2891	broad.mit.edu	37	4	158257857	158257857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:158257857C>T	ENST00000296526.7	+	11	2127	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	GRIA2_ENST00000264426.9_Missense_Mutation_p.S601F|GRIA2_ENST00000393815.2_Missense_Mutation_p.S554F|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554F|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554F	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S601F(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCTGGTTTTCCTTGGGTGCC	0.433000													49	82					0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51633215	51633215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:51633215C>T	ENST00000250360.3	+	7	1338	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	424					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCTGCCCGCTCCTCAGTGGGG	0.617000													30	32					0	0	0.001786	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12854245G>A	ENST00000332296.7	+	3	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	157										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCA	0.493000													84	267					0	0	0.003610	0	0
DHODH	1723	broad.mit.edu	37	16	72046129	72046129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:72046129C>T	ENST00000572887.1	+	2	379	c.202C>T	c.(202-204)Cca>Tca	p.P68S	DHODH_ENST00000219240.4_Missense_Mutation_p.P68S			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	68					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGGGCTCCTTCCACGGGCCAG	0.562000													30	56					0	0	0.002096	0	0
SLIT2	9353	broad.mit.edu	37	4	20620617	20620617	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:20620617G>A	ENST00000504154.1	+	37	4827	c.4575G>A	c.(4573-4575)acG>acA	p.T1525T	SLIT2_ENST00000503823.1_Silent_p.T1517T|SLIT2_ENST00000503837.1_Silent_p.T1521T|SLIT2_ENST00000273739.5_Silent_p.T1538T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1525	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCGGCTGTACGAGGTGTGTGT	0.502000													22	58					0	0	0.002780	0	0
OR2C3	81472	broad.mit.edu	37	1	247695697	247695697	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247695697C>T	ENST00000366487.3	-	2	478	c.117G>A	c.(115-117)tcG>tcA	p.S39S	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCCCAAGATCGATACCATGT	0.473000													25	75					0	0	0.005443	0	0
TMEM225	338661	broad.mit.edu	37	11	123753985	123753985	+	Missense_Mutation	SNP	C	C	T	rs77654932	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:123753985C>T	ENST00000375026.2	-	4	754	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	180						integral to membrane		p.E180K(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCTTACATTCGTTGTCAGAT	0.443000													18	17					0	0	0.004990	0	0
GPR65	8477	broad.mit.edu	37	14	88477563	88477563	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:88477563C>T	ENST00000267549.3	+	2	930	c.372C>T	c.(370-372)ttC>ttT	p.F124F	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	124					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AGTTTTTTTTCCTAAGGACAA	0.418000													59	108					0	0	0.003610	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711975	40711975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:40711975C>T	ENST00000454349.2	+	21	5144	c.4933C>T	c.(4933-4935)Cgt>Tgt	p.R1645C	TNRC6B_ENST00000402203.1_Missense_Mutation_p.R841C|TNRC6B_ENST00000301923.9_Missense_Mutation_p.R841C|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R1535C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1645					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGGCTCAGTTCGTCCTAGTTA	0.418000													7	26					0	0	0.003080	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033919	100033919	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100033919C>T	ENST00000292330.2	-	1	269	c.79G>A	c.(79-81)Gag>Aag	p.E27K	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	27	Pro-rich.																ACTTGGGGCTCCGGGGGTGGC	0.716000													13	21					0	0	0.001855	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68235255	68235255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:68235255C>T	ENST00000347230.4	-	30	5770	c.5632G>A	c.(5632-5634)Gag>Aag	p.E1878K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E1878K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1878					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTGAAGGCTCCTCTGGTACA	0.393000													43	113					0	0	0.003610	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675461	31675461	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31675461G>T	ENST00000503322.1	+	2	282	c.279G>T	c.(277-279)ttG>ttT	p.L93F	LY6G6F_ENST00000375832.4_Missense_Mutation_p.L93F|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L93F																							CTTTGTGGTTGGAGGGATCCA	0.582000													11	577					0.00136819	0.00280662	0.001368	1	0
DNAH5	1767	broad.mit.edu	37	5	13824398	13824398	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13824398C>T	ENST00000265104.4	-	39	6593	c.6489G>A	c.(6487-6489)cgG>cgA	p.R2163R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2163	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCCAAGGTCCGAAGAACTG	0.423000									Kartagener syndrome				14	28					0	0	0.003163	0	0
KNDC1	85442	broad.mit.edu	37	10	135032558	135032558	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:135032558G>A	ENST00000304613.3	+	28	4845	c.4824G>A	c.(4822-4824)aaG>aaA	p.K1608K	KNDC1_ENST00000368572.2_Silent_p.K1610K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1608	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCTGCAAAGATAGCAGAGG	0.632000													10	28					0	0	0.000978	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908289	131908289	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:131908289G>A	ENST00000359827.3	-	9	3056	c.2094C>T	c.(2092-2094)ccC>ccT	p.P698P	PLXNA4_ENST00000321063.4_Silent_p.P698P			Q9HCM2	PLXA4_HUMAN	plexin A4	698	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCTACCTCGGGCAGCTTCA	0.557000													7	18					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135428775	135428775	+	Silent	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:135428775C>A	ENST00000394143.1	+	6	3201	c.2910C>A	c.(2908-2910)acC>acA	p.T970T	GPR112_ENST00000394141.1_Silent_p.T765T|GPR112_ENST00000412101.1_Silent_p.T765T|GPR112_ENST00000287534.4_Silent_p.T907T|GPR112_ENST00000370652.1_Silent_p.T970T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGCTTCTACCACAAGGATAT	0.488000													5	100					0.00116845	0.00239843	0.001168	1	0
CPS1	1373	broad.mit.edu	37	2	211525356	211525356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:211525356C>T	ENST00000233072.5	+	32	4100	c.3904C>T	c.(3904-3906)Cct>Tct	p.P1302S	CPS1_ENST00000451903.2_Missense_Mutation_p.P851S|CPS1_ENST00000430249.2_Missense_Mutation_p.P1308S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1302					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCCCATAATTCCTGCTGACTA	0.343000													25	69					0	0	0.007291	0	0
DNAH5	1767	broad.mit.edu	37	5	13788921	13788921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13788921C>T	ENST00000265104.4	-	51	8655	c.8551G>A	c.(8551-8553)Gta>Ata	p.V2851I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2851					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCTCTACCAAACTTACT	0.418000									Kartagener syndrome				22	69					0	0	0.001882	0	0
NME7	29922	broad.mit.edu	37	1	169199982	169199982	+	Nonsense_Mutation	SNP	G	G	A	rs138530600	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169199982G>A	ENST00000367811.3	-	10	1220	c.964C>T	c.(964-966)Cga>Tga	p.R322*	NME7_ENST00000472647.1_Nonsense_Mutation_p.R286*	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	322					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CAAAATTCTCGAAATGTCTTT	0.313000													22	40					0	0	0.002299	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802039	185802039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185802039C>T	ENST00000302277.6	+	4	2510	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	639						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAACCAATTTCAGAAAAGCAG	0.358000													55	132					0	0	0.003610	0	0
FKBP5	2289	broad.mit.edu	37	6	35554774	35554774	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:35554774C>T	ENST00000542713.1	-	7	943	c.786G>A	c.(784-786)aaG>aaA	p.K262K	FKBP5_ENST00000539068.1_Intron|FKBP5_ENST00000536438.1_Intron|FKBP5_ENST00000357266.4_Intron|FKBP5_ENST00000540787.1_Intron	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	0					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGAATAAATTCTTTGAGATGG	0.383000													33	73					0	0	0.001786	0	0
OR4A47	403253	broad.mit.edu	37	11	48510659	48510659	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48510659C>T	ENST00000446524.1	+	1	391	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCACATTTTCGGTGGGTCAG	0.453000													21	78					0	0	0.003954	0	0
PIPSL	266971	broad.mit.edu	37	10	95719344	95719344	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95719344C>T	ENST00000480546.1	-	0	1953					NR_002319.2																						TTCTCATTGTCCTCCACCGGG	0.473000													4	17					0	0	0.000248	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787168	73787168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73787168G>A	ENST00000342056.2	+	4	1138	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	247					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGACCGAAGGGGAGGC	0.428000													17	22					0	0	0.004007	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825650	52825650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:52825650C>T	ENST00000375511.3	-	2	849	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	33										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AGGACTAAGTCCCTGTTTGGT	0.398000													36	8					0	0	0.006230	0	0
NPC1	4864	broad.mit.edu	37	18	21148891	21148891	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21148891A>T	ENST00000269228.5	-	4	913	c.359T>A	c.(358-360)tTt>tAt	p.F120Y	NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	120					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACATTCAAAAACTGACTCTG	0.373000													19	44					0	0	0.008871	0	0
LHX4	89884	broad.mit.edu	37	1	180243421	180243421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:180243421G>A	ENST00000263726.2	+	6	1124	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	294						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CTCCATGGACGGGACAGGACA	0.532000													41	120					0	0	0.008740	0	0
GAREM	64762	broad.mit.edu	37	18	29848122	29848122	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:29848122G>A	ENST00000399218.4	-	6	2395	c.2340C>T	c.(2338-2340)taC>taT	p.Y780Y	GAREM_ENST00000269209.6_Silent_p.Y781Y	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		ATGAGAAAGGGTAGGAGGCAG	0.552000													12	43					0	0	0.000978	0	0
RICTOR	253260	broad.mit.edu	37	5	38946587	38946587	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:38946587A>T	ENST00000357387.3	-	33	4412	c.4382T>A	c.(4381-4383)tTt>tAt	p.F1461Y	RICTOR_ENST00000296782.5_Missense_Mutation_p.F1485Y	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1461					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCATGGGCAAATGCTCTTGC	0.363000													50	103					0	0	0.003610	0	0
EYA2	2139	broad.mit.edu	37	20	45717880	45717880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:45717880G>A	ENST00000327619.5	+	8	1038	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	EYA2_ENST00000317304.6_Missense_Mutation_p.E222K|EYA2_ENST00000357410.3_Missense_Mutation_p.E222K	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	222					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TACGCCAGGTGAATACAACAC	0.562000													34	44					0	0	0.004878	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45999863G>A	ENST00000400372.1	-	1	618	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	198	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.S198*(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632000													66	132					0	0	0.003610	0	0
OR52L1	338751	broad.mit.edu	37	11	6008152	6008152	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6008152C>T	ENST00000332249.4	-	1	63	c.9G>A	c.(7-9)ttG>ttA	p.L3L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGAAACCAAAGTCATGA	0.433000													21	61					0	0	0.003330	0	0
TNN	63923	broad.mit.edu	37	1	175048543	175048543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175048543G>A	ENST00000239462.4	+	3	597	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	162					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGGGCAGGGAGGGCCCCGC	0.711000													5	20					0	0	0.000602	0	0
ALS2CL	259173	broad.mit.edu	37	3	46717853	46717853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:46717853G>A	ENST00000318962.4	-	19	2151	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R690W|ALS2CL_ENST00000383742.3_Missense_Mutation_p.R37W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	690					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ATCAGTGTCCGGAGCAGCTTT	0.617000													18	55					0	0	0.004656	0	0
TNXB	7148	broad.mit.edu	37	6	32053871	32053871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:32053871C>T	ENST00000375244.3	-	7	3005	c.2804G>A	c.(2803-2805)gGg>gAg	p.G935E	TNXB_ENST00000375247.2_Missense_Mutation_p.G935E			P22105	TENX_HUMAN	tenascin XB	1028					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCGGTAGTCCCCAAGAGGCC	0.627000													48	170					0	0	0.003610	0	0
HMGCL	3155	broad.mit.edu	37	1	24130998	24130998	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:24130998C>T	ENST00000374483.4	-	9	1364	c.693G>A	c.(691-693)gtG>gtA	p.V231V	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000374490.3_Silent_p.V256V|HMGCL_ENST00000436439.2_Silent_p.V185V			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	256					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CAGAAGAGTCCACGACACTCA	0.542000													13	40					0	0	0.001368	0	0
CYP3A4	1576	broad.mit.edu	37	7	99367813	99367813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99367813C>T	ENST00000336411.2	-	5	547	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	122					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCTTCATCCTCAGCTATAGAG	0.403000													8	44					0	0	0.000978	0	0
RASEF	158158	broad.mit.edu	37	9	85640755	85640755	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:85640755C>T	ENST00000376447.3	-	2	773	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	171					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGATGAAGTTCTTTATAACAT	0.388000													28	47					0	0	0.002096	0	0
LYST	1130	broad.mit.edu	37	1	235922487	235922487	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:235922487G>A	ENST00000389794.3	-	23	6840	c.6666C>T	c.(6664-6666)tcC>tcT	p.S2222S	LYST_ENST00000389793.2_Silent_p.S2222S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2222					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCGTGGGCAGGACTCATCCC	0.527000													26	54					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9067233	9067233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9067233C>T	ENST00000397910.4	-	3	20416	c.20213G>A	c.(20212-20214)cGa>cAa	p.R6738Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6740	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCTGTTCGAGTGATGAT	0.502000													178	206					0	0	0.003610	0	0
NR0B2	8431	broad.mit.edu	37	1	27240295	27240295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:27240295G>A	ENST00000254227.3	-	1	162	c.137C>T	c.(136-138)cCc>cTc	p.P46L		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	46					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TAGCTGGACGGGCCGGTGCTG	0.642000													21	46					0	0	0.003954	0	0
OR2A14	135941	broad.mit.edu	37	7	143826882	143826882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:143826882G>A	ENST00000408899.2	+	1	732	c.677G>A	c.(676-678)aGg>aAg	p.R226K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCCATCTTGAGGATCCAGTCT	0.602000													57	114					0	0	0.003610	0	0
PENK	5179	broad.mit.edu	37	8	57353941	57353941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:57353941C>T	ENST00000314922.3	-	2	770	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	PENK_ENST00000451791.2_Missense_Mutation_p.G232S	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	232					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCAGGAAACCTCCATACCGT	0.498000													39	76					0	0	0.007835	0	0
CYTH2	9266	broad.mit.edu	37	19	48973726	48973726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48973726G>A	ENST00000427476.1	+	2	436	c.136G>A	c.(136-138)Gag>Aag	p.E46K	CYTH2_ENST00000452733.2_Missense_Mutation_p.E46K|CTC-273B12.7_ENST00000595676.1_Missense_Mutation_p.E30K	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	46					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGCCATGAGCGAGGTGGAGGG	0.672000													33	19					0	0	0.002096	0	0
WDR33	55339	broad.mit.edu	37	2	128471308	128471308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:128471308G>A	ENST00000322313.4	-	18	3315	c.3157C>T	c.(3157-3159)Ccg>Tcg	p.P1053S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1053					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAAACGGAGGCCCAGGG	0.662000													30	73					0	0	0.002096	0	0
TMC8	147138	broad.mit.edu	37	17	76134129	76134129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:76134129G>A	ENST00000318430.5	+	12	1767	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	TMC8_ENST00000589691.1_Missense_Mutation_p.E242K	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	465						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGCCTGGCTGGAACGGGAGGA	0.642000													23	62					0	0	0.004656	0	0
C1orf173	127254	broad.mit.edu	37	1	75038379	75038379	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:75038379C>T	ENST00000326665.5	-	14	3233	c.3015G>A	c.(3013-3015)cgG>cgA	p.R1005R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1005	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACCTGCATCCGGCTTGCCT	0.542000													22	59					0	0	0.001882	0	0
EVPL	2125	broad.mit.edu	37	17	74005371	74005371	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:74005371C>T	ENST00000301607.3	-	22	4168	c.3915G>A	c.(3913-3915)cgG>cgA	p.R1305R	EVPL_ENST00000586740.1_Silent_p.R1327R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1305	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCTTGGCCCGCTCGCGCC	0.677000													58	154					0	0	0.003610	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902915	61902915	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:61902915G>A	ENST00000427159.2	-	6	1026	c.381C>T	c.(379-381)gtC>gtT	p.V127V		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	127					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AAGCATCATGGACCCAGCTAG	0.557000													26	60					0	0	0.005443	0	0
CRYGS	1427	broad.mit.edu	37	3	186256754	186256754	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:186256754T>A	ENST00000392499.2	-	4	607	c.268A>T	c.(268-270)Agt>Tgt	p.S90C	CRYGS_ENST00000307944.5_Missense_Mutation_p.S90C	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	90	Connecting peptide.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TGGCCTCCACTAGGCTGAAAA	0.413000													13	27					0	0	0.002450	0	0
MAPK4	5596	broad.mit.edu	37	18	48255601	48255601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48255601G>A	ENST00000400384.2	+	6	2177	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	MAPK4_ENST00000540640.1_Missense_Mutation_p.D170N|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	381					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTACAGCGCGACCCGCGCGC	0.677000													19	78					0	0	0.008871	0	0
ACTG1	71	broad.mit.edu	37	17	79478568	79478568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:79478568C>T	ENST00000575842.1	-	3	874	c.448G>A	c.(448-450)Ggc>Agc	p.G150S	ACTG1_ENST00000575087.1_Missense_Mutation_p.G150S|ACTG1_ENST00000573283.1_Missense_Mutation_p.G150S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G150S			P63261	ACTG_HUMAN	actin, gamma 1	150					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ATGACAATGCCAGTGGTGCGC	0.632000													29	81					0	0	0.002096	0	0
PACS2	23241	broad.mit.edu	37	14	105846165	105846165	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:105846165C>T	ENST00000447393.1	+	10	1224	c.1050_splice	c.e10+1	p.P350_splice	PACS2_ENST00000458164.2_Splice_Site_p.P350_splice|PACS2_ENST00000547217.1_Splice_Site_p.P320_splice|PACS2_ENST00000430725.2_Splice_Site_p.P275_splice|PACS2_ENST00000325438.8_Splice_Site_p.P350_splice	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	350					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCCAAGCCCGGTGAGTGGG	0.652000													17	28					0	0	0.006122	0	0
PGK2	5232	broad.mit.edu	37	6	49754784	49754784	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:49754784C>T	ENST00000304801.3	-	1	269	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	39					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGCCTTGATCCTCTGGTTGT	0.463000													52	141					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216256809	216256809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216256809C>T	ENST00000366943.2	-	26	5673	c.5287G>A	c.(5287-5289)Gat>Aat	p.D1763N	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.D1763N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1763	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1763H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAGAAAATCAGGTCCATCT	0.284000										HNSCC(13;0.011)			31	117					0	0	0.003271	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625667	140625667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140625667C>T	ENST00000231173.3	+	1	521	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTCTCCCAATTCTCAT	0.502000													21	13					0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141055473	141055473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:141055473C>T	ENST00000389484.3	-	84	13842	c.12871G>A	c.(12871-12873)Gat>Aat	p.D4291N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4291	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4291Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACAAAAATCCTCACAGACT	0.463000										TSP Lung(27;0.18)			52	118					0	0	0.003610	0	0
OR4K5	79317	broad.mit.edu	37	14	20388834	20388834	+	Silent	SNP	C	C	A	rs144511665	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20388834C>A	ENST00000315915.4	+	1	94	c.69C>A	c.(67-69)ctC>ctA	p.L23L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCAAAAACTCCAGCTTTTCT	0.403000													27	123					1.17739e-12	2.4406e-12	0.005443	1	0
CCDC147	159686	broad.mit.edu	37	10	106214259	106214259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:106214259C>T	ENST00000369704.3	+	18	2724	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	864										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGGCGGATTTCCTCTCAGGTC	0.463000													46	79					0	0	0.003214	0	0
HLX	3142	broad.mit.edu	37	1	221055508	221055508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:221055508C>T	ENST00000366903.6	+	3	2276	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	HLX_ENST00000549319.1_Missense_Mutation_p.P45S	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	259					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TGCGGCAGGTCCCTATGCTGT	0.592000													14	45					0	0	0.003163	0	0
PRDM10	56980	broad.mit.edu	37	11	129780501	129780501	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:129780501G>A	ENST00000358825.5	-	20	3276	c.3045C>T	c.(3043-3045)ctC>ctT	p.L1015L	PRDM10_ENST00000423662.2_Silent_p.L916L|PRDM10_ENST00000528746.1_Silent_p.L972L|PRDM10_ENST00000526082.1_Silent_p.L929L|PRDM10_ENST00000304538.6_Silent_p.L878L|PRDM10_ENST00000360871.3_Silent_p.L1011L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1002	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGAGGGGCTGAGCCCCTGCT	0.582000													10	13					0	0	0.008291	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598265	81598265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:81598265G>A	ENST00000356860.3	-	29	2671	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.S790L	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATGCCCGATTCATAGGC	0.279000													42	123					0	0	0.003610	0	0
NCF2	4688	broad.mit.edu	37	1	183539946	183539946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:183539946C>T	ENST00000413720.1	-	5	777	c.503G>A	c.(502-504)aGt>aAt	p.S168N	NCF2_ENST00000367536.1_Missense_Mutation_p.S213N|NCF2_ENST00000367535.3_Missense_Mutation_p.S213N|NCF2_ENST00000418089.1_Missense_Mutation_p.S132N	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	213					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CCCAGAGAAACTGTCTTGATC	0.517000													18	68					0	0	0.001882	0	0
GDF5	8200	broad.mit.edu	37	20	34025173	34025173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34025173G>A	ENST00000374372.1	-	3	1039	c.536C>T	c.(535-537)aCg>aTg	p.T179M	GDF5_ENST00000374369.3_Missense_Mutation_p.T179M			P43026	GDF5_HUMAN	growth differentiation factor 5	179					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATCGGACAGCGTCCTGTACAG	0.612000													29	75					0	0	0.006320	0	0
TREML2	79865	broad.mit.edu	37	6	41165971	41165971	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:41165971C>T	ENST00000483722.1	-	2	437	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	84	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACCTTGGCCTGGGCATCGT	0.582000													40	97					0	0	0.007835	0	0
LSM7	51690	broad.mit.edu	37	19	2328413	2328413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:2328413G>A	ENST00000252622.9	-	2	119	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	24					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTTTACCCGGATCGTCTTG	0.522000													8	37					0	0	0.000978	0	0
AGXT2	64902	broad.mit.edu	37	5	35039544	35039544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35039544G>A	ENST00000231420.6	-	3	447	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	83					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGGGTTTCTGGAAATATGCC	0.483000													23	47					0	0	0.004656	0	0
ADAM18	8749	broad.mit.edu	37	8	39468107	39468107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39468107G>A	ENST00000265707.5	+	6	449	c.404G>A	c.(403-405)aGa>aAa	p.R135K	ADAM18_ENST00000379866.1_Missense_Mutation_p.R135K|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.R135K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	135					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCTTCAGCAAGATTTGAGCAT	0.299000													17	41					0	0	0.004007	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:144854629C>T	ENST00000369359.4	-	45	7287	c.7249G>A	c.(7249-7251)Gaa>Aaa	p.E2417K	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E2366K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E2175K|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E2281K|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E2281K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2281					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488000			T	PDGFRB	MPD								31	273					0	0	0.001786	0	0
LST3	0	broad.mit.edu	37	12	21199994	21199994	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21199994C>T	ENST00000381541.3	+	8	1043	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SLCO1B7_ENST00000421593.2_Silent_p.F279F|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.F326F|SLCO1B3_ENST00000553473.1_Intron																							CAGGCTTTTTCCAGTCTTTGA	0.249000													4	14					0	0	0.001168	0	0
COL28A1	340267	broad.mit.edu	37	7	7413017	7413017	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:7413017G>A	ENST00000399429.3	-	32	2660	c.2520C>T	c.(2518-2520)atC>atT	p.I840I		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	840	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGCTATAGTTGATTATGCCTA	0.483000													38	72					0	0	0.006999	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768543	140768543	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140768543T>G	ENST00000519479.1	+	1	1092	c.1092T>G	c.(1090-1092)atT>atG	p.I364M	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACACATATTGCTTTGCTCA	0.413000													37	33					0	0	0.006230	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097640	11097640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:11097640G>A	ENST00000358026.2	+	5	1104	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G274S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G274S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G274S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G274S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G274S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G274S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G274S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G274S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	274	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGGATGCCAGGCCAGCCTCC	0.627000			"""F, N, Mis"""		NSCLC								16	48					0	0	0.007413	0	0
LAMA3	3909	broad.mit.edu	37	18	21338393	21338393	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21338393G>A	ENST00000313654.9	+	7	1222	c.981G>A	c.(979-981)ggG>ggA	p.G327G	LAMA3_ENST00000399516.3_Silent_p.G327G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	327	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTGTGGGGAGACGTGTG	0.572000													10	30					0	0	0.008291	0	0
MCHR2	84539	broad.mit.edu	37	6	100390835	100390835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:100390835C>T	ENST00000281806.2	-	4	891	c.577G>A	c.(577-579)Gat>Aat	p.D193N	MCHR2_ENST00000445970.1_Missense_Mutation_p.D193N|MCHR2_ENST00000369212.1_Missense_Mutation_p.D193N	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTACATCGTCAGGGGAT	0.408000													28	22					0	0	0.001786	0	0
IGSF10	285313	broad.mit.edu	37	3	151160909	151160909	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151160909C>T	ENST00000282466.3	-	5	5825	c.5826G>A	c.(5824-5826)agG>agA	p.R1942R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1942	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCTTCTATCCTGGGGCTGG	0.488000													48	109					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13751222G>A	ENST00000265104.4	-	65	11280	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453000									Kartagener syndrome				25	48					0	0	0.003954	0	0
SQRDL	58472	broad.mit.edu	37	15	45962144	45962144	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:45962144A>G	ENST00000260324.7	+	4	810	c.424A>G	c.(424-426)Att>Gtt	p.I142V	RP11-96O20.4_ENST00000564080.1_Missense_Mutation_p.I142V|SQRDL_ENST00000568606.1_Missense_Mutation_p.I142V	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	142							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCGATATCTTATTATTGCTCT	0.438000													60	123					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7637763	7637763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7637763C>T	ENST00000359156.4	-	11	2910	c.2708G>A	c.(2707-2709)tGg>tAg	p.W903*	CD163_ENST00000432237.2_Nonsense_Mutation_p.W903*|CD163_ENST00000396620.3_Nonsense_Mutation_p.W936*|CD163_ENST00000541972.1_Nonsense_Mutation_p.W891*|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	903	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGGCACTGCCACAGCGTGTC	0.507000													39	75					0	0	0.006230	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202110	72202110	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:72202110T>C	ENST00000555818.1	+	20	5534		c.e20+2		SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000554874.1_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTACAGCAGGTTGGTCCCAGT	0.547000													32	49					0	0	0.002096	0	0
ZNF259	8882	broad.mit.edu	37	11	116655590	116655590	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:116655590C>T	ENST00000227322.3	-	8	860	c.801G>A	c.(799-801)caG>caA	p.Q267Q		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	267					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATGTTGGTCTGAGCGGGGG	0.507000													124	136					0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124827585	124827585	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:124827585G>A	ENST00000356219.3	-	34	5078	c.4923C>T	c.(4921-4923)ccC>ccT	p.P1641P	NCOR2_ENST00000404621.1_Silent_p.P1624P|NCOR2_ENST00000397355.1_Silent_p.P1625P|NCOR2_ENST00000405201.1_Silent_p.P1634P|NCOR2_ENST00000404121.2_Silent_p.P1195P|NCOR2_ENST00000429285.2_Silent_p.P1624P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1642					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTATGGAGGTGGGGTCGAAGG	0.657000													17	13					0	0	0.006122	0	0
ZEB1	6935	broad.mit.edu	37	10	31809946	31809946	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:31809946C>T	ENST00000446923.2	+	7	2026	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	ZEB1_ENST00000542815.3_Silent_p.L494L|ZEB1_ENST00000361642.5_Silent_p.L562L|ZEB1_ENST00000320985.10_Silent_p.L561L|ZEB1_ENST00000560721.2_Silent_p.L541L|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	561					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCCTCCACTCCCTGCAGCAG	0.463000													18	37					0	0	0.004990	0	0
TEX15	56154	broad.mit.edu	37	8	30703646	30703646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:30703646C>T	ENST00000256246.2	-	1	2962	c.2888G>A	c.(2887-2889)cGa>cAa	p.R963Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	963										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTAATTCGTCCTTGGGA	0.343000													40	98					0	0	0.006230	0	0
CIITA	4261	broad.mit.edu	37	16	11001284	11001284	+	Silent	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:11001284G>T	ENST00000324288.8	+	11	2068	c.1935G>T	c.(1933-1935)ctG>ctT	p.L645L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	645	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCGGCCTGCTGGGCCGTGCAG	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	27					7.48243e-07	1.54594e-06	0.006214	1	0
MUC16	94025	broad.mit.edu	37	19	9058382	9058382	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9058382C>T	ENST00000397910.4	-	3	29267	c.29064G>A	c.(29062-29064)ggG>ggA	p.G9688G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9690	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAGTGGGTCCCTGACAAAA	0.493000													16	72					0	0	0.004007	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596212	173596212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173596212C>T	ENST00000333279.2	-	4	643	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	211										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ACCTTGTCTTCCTTAAGGAGT	0.358000													36	115					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175092667	175092667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175092667G>A	ENST00000239462.4	+	12	2895	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	928	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGACCAGGGAGGTTCCGGT	0.622000													15	65					0	0	0.006122	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362867	128362867	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:128362867C>T	ENST00000262462.4	+	7	2307	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	SLC27A6_ENST00000506176.1_Missense_Mutation_p.P433S|SLC27A6_ENST00000395266.1_Missense_Mutation_p.P433S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	433					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.P433S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCAAAAAATCCCTTCTTTGG	0.378000													22	33					0	0	0.005443	0	0
SNTG2	54221	broad.mit.edu	37	2	1094083	1094083	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1094083C>T	ENST00000308624.5	+	4	441	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	104	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAAATATTCGAAGACCAAG	0.388000													30	46					0	0	0.002445	0	0
COL9A1	1297	broad.mit.edu	37	6	71010049	71010049	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:71010049G>A	ENST00000357250.6	-	3	287	c.129C>T	c.(127-129)ctC>ctT	p.L43L	COL9A1_ENST00000370496.3_Silent_p.L43L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	43	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTTTGGACAGAGTTCATTTC	0.343000													24	65					0	0	0.006320	0	0
CYTIP	9595	broad.mit.edu	37	2	158275047	158275047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:158275047G>A	ENST00000264192.3	-	7	722	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CYTIP_ENST00000540637.1_Missense_Mutation_p.R95C	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	201					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGAAGCAGACGATGTTCCTGT	0.318000													43	103					0	0	0.003610	0	0
PARP9	83666	broad.mit.edu	37	3	122247372	122247372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:122247372G>A	ENST00000360356.2	-	11	2631	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	PARP9_ENST00000477522.2_Missense_Mutation_p.P767S|PARP9_ENST00000492382.1_Missense_Mutation_p.P347S|PARP9_ENST00000471785.1_Missense_Mutation_p.P767S	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	802	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.P802S(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGGTTTCAGGGCTGGAGACA	0.463000													36	60					0	0	0.003755	0	0
DNAH3	55567	broad.mit.edu	37	16	20975582	20975582	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:20975582G>A	ENST00000261383.3	-	53	9623	c.9624C>T	c.(9622-9624)atC>atT	p.I3208I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3208	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGCAGCCACGATGCCAAGGA	0.473000													28	92					0	0	0.005443	0	0
TMC3	342125	broad.mit.edu	37	15	81636370	81636370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:81636370G>A	ENST00000558726.1	-	14	1673	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.S512F			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	512						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTCAATGATGGAGAGCTTCAG	0.532000													11	32					0	0	0.000978	0	0
SCN10A	6336	broad.mit.edu	37	3	38802185	38802185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38802185C>T	ENST00000449082.2	-	7	936	c.937G>A	c.(937-939)Gga>Aga	p.G313R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	313					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)	GAGTCAGATCCATTGCCACAC	0.463000													29	75					0	0	0.002445	0	0
FAM81B	153643	broad.mit.edu	37	5	94731827	94731827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:94731827C>T	ENST00000283357.5	+	3	287	c.241C>T	c.(241-243)Cca>Tca	p.P81S	FAM81B_ENST00000506418.1_3'UTR	NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	81										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)		AAGATTATCTCCAGCCAAAAT	0.284000													31	61					0	0	0.002445	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826237	43826237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:43826237C>T	ENST00000389420.3	-	21	2965	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R143Q|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R989Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	989	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAAGATTCTCGAGACCTTTC	0.368000													41	51					0	0	0.008740	0	0
OR10G9	219870	broad.mit.edu	37	11	123893749	123893749	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:123893749C>T	ENST00000375024.1	+	1	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACAGCGTTCATCCTCACGG	0.542000													56	75					0	0	0.003610	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167571	27167571	+	Silent	SNP	C	C	T	rs77299668	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:27167571C>T	ENST00000288699.6	+	12	1646	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	DPYSL5_ENST00000401478.1_Silent_p.V496V	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	496					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGGATGTCGCTGTTGTCG	0.572000													31	64					0	0	0.002445	0	0
DDX60	55601	broad.mit.edu	37	4	169176882	169176882	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169176882G>A	ENST00000393743.3	-	26	3828	c.3537C>T	c.(3535-3537)tcC>tcT	p.S1179S	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1179							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTCTCTATGGATTTTTTAA	0.348000													16	44					0	0	0.006122	0	0
KRT38	8687	broad.mit.edu	37	17	39594368	39594368	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39594368G>A	ENST00000246646.3	-	6	1217	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	406	Coil 2.|Rod.					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)				TTTCCAGAAGGTTCCGGTACG	0.552000													19	35					0	0	0.008871	0	0
MYH7	4625	broad.mit.edu	37	14	23896074	23896074	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:23896074C>T	ENST00000355349.3	-	18	2119		c.e18-1			NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta						adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCAGATTTTCCTGTGGCCAAA	0.438000													22	45					0	0	0.002299	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699961	151699961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:151699961G>A	ENST00000392800.2	+	6	1075	c.821G>A	c.(820-822)gGa>gAa	p.G274E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G274E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	274						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTGTAAGGGGAACTTTTGAT	0.433000													52	92					0	0	0.003610	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:31585462C>T	ENST00000356173.3	-	6	464	c.372G>A	c.(370-372)tcG>tcA	p.S124S	SUN5_ENST00000375523.3_Silent_p.S99S	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000													26	52					0	0	0.008361	0	0
CFH	3075	broad.mit.edu	37	1	196694397	196694397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196694397G>A	ENST00000367429.4	+	12	2083	c.1843G>A	c.(1843-1845)Gga>Aga	p.G615R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	615	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACCACTTTGGATTGTCTCC	0.358000													29	92					0	0	0.002445	0	0
PPEF2	5470	broad.mit.edu	37	4	76808004	76808004	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:76808004C>T	ENST00000286719.7	-	7	936		c.e7+1			NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACATTCATACCTTATAAAAT	0.294000													23	60					0	0	0.003330	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487579	21487579	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21487579C>T	ENST00000307378.6	-	3	723	c.3G>A	c.(1-3)atG>atA	p.M1I	SLCO1A2_ENST00000452078.1_Start_Codon_SNP_p.M1I|SLCO1A2_ENST00000390670.3_5'UTR|SLCO1A2_ENST00000458504.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	1					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CAGTTTCTCCCATGTTGCTCT	0.318000													21	74					0	0	0.002780	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745844	96745844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96745844C>T	ENST00000260682.6	+	8	1216	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	402					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.P402S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CAAAGAATTTCCCAACCCAGA	0.378000													29	59					0	0	0.007291	0	0
DUSP27	92235	broad.mit.edu	37	1	167097088	167097088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167097088C>T	ENST00000361200.2	+	6	2886	c.2720C>T	c.(2719-2721)cCt>cTt	p.P907L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.P907L|DUSP27_ENST00000271385.5_Missense_Mutation_p.P907L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	907	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGAAACCTGAAACAGAC	0.493000													22	43					0	0	0.002299	0	0
CIITA	4261	broad.mit.edu	37	16	11000826	11000826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:11000826C>T	ENST00000324288.8	+	11	1610	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	493	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GAGACCTGACCGCGTTCTGCT	0.642000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								36	96					0	0	0.004878	0	0
PNMA5	114824	broad.mit.edu	37	X	152159204	152159204	+	Silent	SNP	C	C	T	rs144825466	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:152159204C>T	ENST00000439251.1	-	2	1377	c.939G>A	c.(937-939)ggG>ggA	p.G313G	PNMA5_ENST00000361887.5_Silent_p.G313G|PNMA5_ENST00000535214.1_Silent_p.G313G|PNMA5_ENST00000452693.1_Silent_p.G313G	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGGACACCCTCGCTGAT	0.527000													27	12					0	0	0.004656	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455958	5455958	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:5455958C>T	ENST00000222033.4	+	1	533	c.456C>T	c.(454-456)aaC>aaT	p.N152N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	152	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GACTGGGCAACCGCTCTCTGG	0.692000													16	37					0	0	0.003163	0	0
CALCA	796	broad.mit.edu	37	11	14990422	14990422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:14990422C>T	ENST00000331587.4	-	4	467	c.349G>A	c.(349-351)Gga>Aga	p.G117R	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.G117R|CALCA_ENST00000486207.1_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.G117R	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	120					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CTTTTCTTTCCAGGTGCTCCA	0.507000													49	101					0	0	0.003610	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5068338C>T	ENST00000380370.1	+	1	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACATTCGTATCAATGG	0.438000													48	96					0	0	0.003214	0	0
YLPM1	56252	broad.mit.edu	37	14	75265469	75265469	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75265469C>T	ENST00000325680.7	+	5	3593	c.3469C>T	c.(3469-3471)Ctg>Ttg	p.L1157L	YLPM1_ENST00000238571.3_Silent_p.L962L|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	962	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAAAGGGGACTGGGAAGATC	0.547000													10	24					0	0	0.008291	0	0
PROP1	5626	broad.mit.edu	37	5	177421205	177421205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:177421205C>T	ENST00000308304.2	-	2	552	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	82					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGCTGTTCCAACTGCACT	0.662000													39	29					0	0	0.006230	0	0
DDO	8528	broad.mit.edu	37	6	110714539	110714539	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:110714539C>T	ENST00000368924.3	-	5	564	c.549G>A	c.(547-549)aaG>aaA	p.K183K	DDO_ENST00000368923.3_Silent_p.K124K|DDO_ENST00000368925.1_Silent_p.K155K	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	155					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTCCACTTCCCTTTATCCTAC	0.468000													25	46					0	0	0.005443	0	0
CDH18	1016	broad.mit.edu	37	5	19544036	19544036	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:19544036C>T	ENST00000507958.1	-	11	2322	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K	CDH18_ENST00000506372.1_Silent_p.K444K|CDH18_ENST00000502796.1_Silent_p.K444K|CDH18_ENST00000511273.1_Silent_p.K444K|CDH18_ENST00000382275.1_Silent_p.K444K|CDH18_ENST00000274170.4_Silent_p.K444K			Q13634	CAD18_HUMAN	cadherin 18, type 2	444	Cadherin 4.				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)					TGTCGAGAACCTTTGTAGTCC	0.363000													24	46					0	0	0.002299	0	0
SBF1	6305	broad.mit.edu	37	22	50894674	50894674	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:50894674A>C	ENST00000380817.2	-	31	4420	c.4237T>G	c.(4237-4239)Tca>Gca	p.S1413A	SBF1_ENST00000390679.3_Missense_Mutation_p.S1387A|SBF1_ENST00000348911.6_Missense_Mutation_p.S1388A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1387	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCTCCAGTGAGCGCAGGAAG	0.642000													9	18					0	0	0.000978	0	0
NMS	129521	broad.mit.edu	37	2	101086963	101086963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:101086963C>T	ENST00000376865.1	+	1	20	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	5					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GAAACATCTTCGTCCCCAGTT	0.552000													49	84					0	0	0.003610	0	0
FAM73A	374986	broad.mit.edu	37	1	78325048	78325048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:78325048C>T	ENST00000370791.3	+	10	1197	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	FAM73A_ENST00000443751.2_Missense_Mutation_p.H351Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	389						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGCCAAACTTCACTGTATTCG	0.408000													19	59					0	0	0.007413	0	0
SERPINB4	6318	broad.mit.edu	37	18	61309021	61309021	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61309021G>A	ENST00000341074.5	-	4	439	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SERPINB4_ENST00000356424.6_Silent_p.F108F	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCTTTTCTCCGAAGAGCTTGT	0.413000													51	106					0	0	0.003610	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640826	6640826	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:6640826A>G	ENST00000377674.4	+	2	315	c.157A>G	c.(157-159)Agc>Ggc	p.S53G		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	53	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CTTTTTCCAGAGCCTCTACGG	0.597000													30	54					0	0	0.003755	0	0
HSD17B3	3293	broad.mit.edu	37	9	99015188	99015188	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:99015188C>T	ENST00000375263.3	-	4	329	c.282G>A	c.(280-282)cgG>cgA	p.R94R	HSD17B3_ENST00000375262.2_Silent_p.R94R	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	94					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	TCCCTGTAGTCCGCTCTACAC	0.423000													37	31					0	0	0.004878	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121280	38121280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38121280G>A	ENST00000406386.3	+	7	2972	c.2717G>A	c.(2716-2718)tGg>tAg	p.W906*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	906					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACATCCCCTGGGCCTCGTTT	0.562000													68	119					0	0	0.003610	0	0
CRX	1406	broad.mit.edu	37	19	48343182	48343182	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48343182G>A	ENST00000221996.7	+	4	1064	c.858G>A	c.(856-858)ctG>ctA	p.L286L	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.L286L	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	286					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGACCCTCTGGACTACAAGG	0.542000													40	41					0	0	0.006999	0	0
FAS	355	broad.mit.edu	37	10	90773113	90773113	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:90773113T>A	ENST00000355740.2	+	8	885	c.665T>A	c.(664-666)aTa>aAa	p.I222K	FAS_ENST00000355279.2_Intron|FAS_ENST00000357339.2_Missense_Mutation_p.I201K|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Missense_Mutation_p.I222K	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	222	Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		ACAGTGGCAATAAATTTATCT	0.274000													18	77					0	0	0.001523	0	0
DPP10	57628	broad.mit.edu	37	2	116066870	116066870	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:116066870T>C	ENST00000410059.1	+	2	596	c.116T>C	c.(115-117)cTg>cCg	p.L39P	DPP10_ENST00000409163.1_5'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.L32P|DPP10_ENST00000393147.2_Missense_Mutation_p.L43P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	39	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCTATTGCTCTGCTGGTGATT	0.403000													22	40					0	0	0.006320	0	0
MME	4311	broad.mit.edu	37	3	154861352	154861352	+	Missense_Mutation	SNP	A	A	G	rs35303134		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:154861352A>G	ENST00000460393.1	+	13	1429	c.1309A>G	c.(1309-1311)Aaa>Gaa	p.K437E	MME_ENST00000493237.1_Missense_Mutation_p.K437E|MME_ENST00000360490.2_Missense_Mutation_p.K437E|MME_ENST00000462745.1_Missense_Mutation_p.K437E|MME_ENST00000492661.1_Missense_Mutation_p.K437E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	437					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGGAGAGAGTAAACATGTGGT	0.403000													25	51					0	0	0.005443	0	0
MUC17	140453	broad.mit.edu	37	7	100683774	100683774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100683774C>T	ENST00000306151.4	+	3	9141	c.9077C>T	c.(9076-9078)tCc>tTc	p.S3026F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3026	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCCTCTCCTACA	0.527000													127	227					0	0	0.003610	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648682	41648682	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:41648682C>T	ENST00000313860.7	+	12	1491	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	LIMCH1_ENST00000396595.3_Silent_p.F325F|LIMCH1_ENST00000512632.1_Silent_p.F479F|LIMCH1_ENST00000514096.1_Silent_p.F320F|LIMCH1_ENST00000512946.1_Silent_p.F479F|LIMCH1_ENST00000509277.1_Silent_p.F313F|LIMCH1_ENST00000381753.4_Silent_p.F313F|LIMCH1_ENST00000508501.1_Silent_p.F479F|LIMCH1_ENST00000512820.1_Silent_p.F467F|LIMCH1_ENST00000503057.1_Silent_p.F864F|LIMCH1_ENST00000511496.1_Silent_p.F320F|LIMCH1_ENST00000513024.1_Silent_p.F308F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	479					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TATCCTCCTTCCTGAATGACC	0.483000													93	206					0	0	0.003610	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:31378687C>T	ENST00000297142.3	-	2	518	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	66					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tcttcctcttccctgtcttcc	0.468000													44	89					0	0	0.002222	0	0
LRIG1	26018	broad.mit.edu	37	3	66433745	66433745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:66433745C>T	ENST00000383703.3	-	16	2686	c.2083G>A	c.(2083-2085)Ggg>Agg	p.G695R	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.G718R			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	718	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAGGGTTCCCCGTGGCTTTG	0.607000													23	49					0	0	0.003330	0	0
IRF6	3664	broad.mit.edu	37	1	209961873	209961873	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:209961873G>A	ENST00000367021.3	-	9	1468	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	IRF6_ENST00000542854.1_Silent_p.I337I	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	432					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557000										HNSCC(57;0.16)			30	101					0	0	0.001786	0	0
CCDC155	147872	broad.mit.edu	37	19	49920433	49920433	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:49920433T>C	ENST00000447857.3	+	19	1662	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	486						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CGGCGGGAACTCCAGCAAGCC	0.642000													15	8					0	0	0.004990	0	0
MFNG	4242	broad.mit.edu	37	22	37882124	37882124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:37882124G>A	ENST00000356998.3	-	1	315	c.92C>T	c.(91-93)tCc>tTc	p.S31F	MFNG_ENST00000416983.3_Missense_Mutation_p.S31F	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	31					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CCGCTGCGGGGACAGGTTCAA	0.662000													27	34					0	0	0.008361	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77323240	77323240	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:77323240G>A	ENST00000282849.5	-	22	3889	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1157	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GACAACTTGAGGAAGGCCGGC	0.542000													56	93					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41465792	41465792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:41465792C>T	ENST00000400454.1	-	21	4183	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1236	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCTCAAACTCGCTGATCACC	0.453000													16	35					0	0	0.004990	0	0
GDPD4	220032	broad.mit.edu	37	11	76969473	76969473	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:76969473G>A	ENST00000315938.4	-	10	1072	c.822C>T	c.(820-822)ttC>ttT	p.F274F	GDPD4_ENST00000376217.2_Silent_p.F274F	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	274	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAGTCGATAGGAAATCCCAGT	0.433000													46	93					0	0	0.003214	0	0
GABRG1	2565	broad.mit.edu	37	4	46060311	46060311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:46060311G>A	ENST00000295452.4	-	7	1006	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	280					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGAATGCATGGAATGTAGGT	0.343000													19	43					0	0	0.007413	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515731	70515731	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:70515731C>T	ENST00000381269.2	-	7	2913	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	SLC8A3_ENST00000533541.1_Silent_p.G77G|SLC8A3_ENST00000216568.7_Silent_p.G91G|SLC8A3_ENST00000356921.2_Silent_p.G714G|SLC8A3_ENST00000357887.3_Silent_p.G718G|SLC8A3_ENST00000394330.2_Silent_p.G77G|SLC8A3_ENST00000534137.1_Silent_p.G717G|SLC8A3_ENST00000528359.1_Silent_p.G718G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	720					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G718G(1)|p.G720G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTCTCCTCCCCGGATTCAT	0.527000													17	29					0	0	0.001523	0	0
FMN2	56776	broad.mit.edu	37	1	240341340	240341340	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:240341340G>A	ENST00000319653.9	+	3	2132	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	634					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCGATGAGGAACACAGGC	0.478000													17	46					0	0	0.007413	0	0
HYDIN	54768	broad.mit.edu	37	16	70891617	70891617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70891617G>A	ENST00000393567.2	-	72	12436	c.12286C>T	c.(12286-12288)Ctc>Ttc	p.L4096F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4096										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAATGAGGAGAGAGCTGAAG	0.488000													16	99					0	0	0.007413	0	0
DNAH9	1770	broad.mit.edu	37	17	11687036	11687036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:11687036G>A	ENST00000262442.3	+	40	7860	c.7792G>A	c.(7792-7794)Ggc>Agc	p.G2598S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2598S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2598	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCACGGCAGGCAGCTTCAC	0.498000													18	10					0	0	0.001523	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212142	90212142	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:90212142C>T	ENST00000390277.2	+	0	331																											CCACTGGCATCCCAGCCAGGT	0.552000													28	69					0	0	0.008361	0	0
CFH	3075	broad.mit.edu	37	1	196648791	196648791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196648791C>T	ENST00000367429.4	+	6	898	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CFH_ENST00000439155.2_Missense_Mutation_p.P220S|CFH_ENST00000359637.2_Missense_Mutation_p.P156S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	220	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGGATCTCCTATATCTCA	0.318000													28	52					0	0	0.007291	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28329233	28329233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:28329233C>T	ENST00000377255.3	+	4	832	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.P31S|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.P179S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	179					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGGATCCCAGCCTTTACAAGA	0.418000													17	70					0	0	0.006122	0	0
MYO3B	140469	broad.mit.edu	37	2	171259407	171259407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:171259407G>A	ENST00000334231.6	+	19	2206	c.2206G>A	c.(2206-2208)Gag>Aag	p.E736K	MYO3B_ENST00000408978.4_Missense_Mutation_p.E727K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E727K|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	727	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTTGGATTCGAGAATTTTCA	0.418000													34	73					0	0	0.004289	0	0
MKRN3	7681	broad.mit.edu	37	15	23811104	23811104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23811104C>T	ENST00000314520.3	+	1	651	c.175C>T	c.(175-177)Cct>Tct	p.P59S	MKRN3_ENST00000568252.1_Missense_Mutation_p.P59S|MKRN3_ENST00000564592.1_Missense_Mutation_p.P59S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	59						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCCCTTCCCTGTAGCTCC	0.687000													19	38					0	0	0.006122	0	0
AMACR	23600	broad.mit.edu	37	5	34007991	34007991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:34007991C>T	ENST00000335606.6	-	1	222	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.R45H|AMACR_ENST00000441713.2_Missense_Mutation_p.R45H|AMACR_ENST00000382072.2_Missense_Mutation_p.R45H|AMACR_ENST00000382085.3_Missense_Mutation_p.R45H	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	45					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCGGCCCAAGCGGCTCACGTC	0.721000													5	9					0	0	0.001168	0	0
OR10A6	390093	broad.mit.edu	37	11	7949293	7949293	+	Missense_Mutation	SNP	C	C	T	rs148940548	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:7949293C>T	ENST00000309838.2	-	1	916	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTCGCCTTCGCCATAATTT	0.373000													31	55					0	0	0.004878	0	0
ACSF3	197322	broad.mit.edu	37	16	89167169	89167169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89167169G>A	ENST00000317447.4	+	3	457	c.80G>A	c.(79-81)aGa>aAa	p.R27K	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.R27K	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	27					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCGAGACACAGAGGAAGTGGT	0.687000													21	29					0	0	0.002299	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536765	37536765	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:37536765G>A	ENST00000299824.1	+	10	1312	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.E333K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	375					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAGTGCAGCTGAGGATCAGCG	0.602000													24	48					0	0	0.003954	0	0
SCN5A	6331	broad.mit.edu	37	3	38671912	38671912	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38671912G>A	ENST00000413689.1	-	3	475	c.282C>T	c.(280-282)atC>atT	p.I94I	SCN5A_ENST00000414099.2_Silent_p.I94I|SCN5A_ENST00000455624.2_Silent_p.I94I|SCN5A_ENST00000333535.4_Silent_p.I94I|SCN5A_ENST00000450102.2_Silent_p.I94I|SCN5A_ENST00000443581.1_Silent_p.I94I|SCN5A_ENST00000423572.2_Silent_p.I94I|SCN5A_ENST00000451551.2_Silent_p.I94I|SCN5A_ENST00000425664.1_Silent_p.I94I|SCN5A_ENST00000449557.2_Silent_p.I94I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	94					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TATTCAGTACGATGAAAGTCT	0.542000													69	59					0	0	0.003610	0	0
ADH1C	126	broad.mit.edu	37	4	100264168	100264168	+	RNA	SNP	G	G	A	rs78113489		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100264168G>A	ENST00000515683.1	-	0	963				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGATAGGCCGACCCCTCCCA	0.438000													81	142					0	0	0.003610	0	0
TMEM196	256130	broad.mit.edu	37	7	19765303	19765303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:19765303G>A	ENST00000405844.1	-	3	988	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMEM196_ENST00000433641.1_Missense_Mutation_p.S30F|TMEM196_ENST00000422233.1_Missense_Mutation_p.S30F|TMEM196_ENST00000405764.3_Missense_Mutation_p.S98F|TMEM196_ENST00000493519.1_Missense_Mutation_p.S30F			Q5HYL7	TM196_HUMAN	transmembrane protein 196	104						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GTATAGGGAGGAAGTTTTCTT	0.502000													24	59					0	0	0.005443	0	0
LCE3D	84648	broad.mit.edu	37	1	152552378	152552378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152552378G>A	ENST00000368787.3	-	2	91	c.35C>T	c.(34-36)cCc>cTc	p.P12L		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	12					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CTTGGGTGGGGGTTGGCACTG	0.562000													30	101					0	0	0.003755	0	0
FLG2	388698	broad.mit.edu	37	1	152325619	152325619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152325619C>T	ENST00000388718.5	-	3	4715	c.4643G>A	c.(4642-4644)gGa>gAa	p.G1548E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1548							calcium ion binding|structural molecule activity			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)			AGTGGTATCTCCTGTCTGTCC	0.473000													85	252					0	0	0.003610	0	0
PYGL	5836	broad.mit.edu	37	14	51379768	51379768	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:51379768C>T	ENST00000216392.7	-	13	1931	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	PYGL_ENST00000544180.2_Silent_p.R499R|PYGL_ENST00000532462.1_Silent_p.R533R|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	533					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGGCGAGTTCCCGGAGGAAGA	0.478000													19	50					0	0	0.001523	0	0
RICTOR	253260	broad.mit.edu	37	5	38946588	38946588	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:38946588A>G	ENST00000357387.3	-	33	4411	c.4381T>C	c.(4381-4383)Ttt>Ctt	p.F1461L	RICTOR_ENST00000296782.5_Missense_Mutation_p.F1485L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1461					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCATGGGCAAATGCTCTTGCA	0.363000													50	102					0	0	0.003610	0	0
BTG1	694	broad.mit.edu	37	12	92537894	92537894	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:92537894G>T	ENST00000256015.3	-	2	839	c.478C>A	c.(478-480)Cct>Act	p.P160T		NM_001731.2	NP_001722.1	P62324	BTG1_HUMAN	B-cell translocation gene 1, anti-proliferative	160					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				TTTTTGGAAGGGCTCGTTCTG	0.443000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	37					4.65686e-17	9.6977e-17	0.003755	1	0
SPEF2	79925	broad.mit.edu	37	5	35641564	35641564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35641564C>T	ENST00000440995.2	+	3	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	SPEF2_ENST00000509059.1_Missense_Mutation_p.R65C|SPEF2_ENST00000356031.3_Missense_Mutation_p.R65C|SPEF2_ENST00000282469.6_Missense_Mutation_p.R65C			Q9C093	SPEF2_HUMAN	sperm flagellar 2	65	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R65S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATTTTTCTCGCTTGGAGCC	0.378000													25	54					0	0	0.006320	0	0
RFTN1	23180	broad.mit.edu	37	3	16475377	16475377	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:16475377G>A	ENST00000334133.4	-	3	585	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	RFTN1_ENST00000432519.1_Silent_p.L69L	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	105						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCTTGATCAGGATGGCTCTA	0.587000													90	261					0	0	0.003610	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:44555132G>A	ENST00000330682.2	-	1	1317	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S361L(1)|p.S361*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCAAGAACCGAGTAGGGGAC	0.627000													37	1705					0	0	0.004007	0	0
ZNF827	152485	broad.mit.edu	37	4	146824293	146824293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:146824293G>A	ENST00000508784.1	-	2	345	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ZNF827_ENST00000379448.4_Missense_Mutation_p.P40S|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTCTGACGGAGTCTCTGAA	0.527000													39	86					0	0	0.002522	0	0
BCMO1	53630	broad.mit.edu	37	16	81298334	81298334	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81298334C>T	ENST00000258168.2	+	5	1022	c.561C>T	c.(559-561)tcC>tcT	p.S187S	BCMO1_ENST00000425577.2_Silent_p.S118S	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	187					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGGCACATCCATTGTGGAAA	0.428000													25	37					0	0	0.003330	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61324626G>A	ENST00000283752.5	-	6	633	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_ENST00000332821.8_Missense_Mutation_p.P164S|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000													33	93					0	0	0.006230	0	0
ANO4	121601	broad.mit.edu	37	12	101488033	101488033	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:101488033G>A	ENST00000392979.3	+	17	1957		c.e17-1		ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTATTTTACAGCTCTATGAAA	0.328000										HNSCC(74;0.22)			19	19					0	0	0.002780	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925237	4925237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrY:4925237C>T	ENST00000333703.4	+	4	853	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R125C|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R125C	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	125	Cadherin 1.				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						TCGCATTGATCGTGAGAAATT	0.443000													63	44					0	0	0.003610	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877893	39877893	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:39877893C>T	ENST00000530275.1	+	1	1743	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	516										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGTCACCTTCAGTTTTGCTT	0.418000													84	155					0	0	0.003610	0	0
EVPL	2125	broad.mit.edu	37	17	74005370	74005370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:74005370C>T	ENST00000301607.3	-	22	4169	c.3916G>A	c.(3916-3918)Gcc>Acc	p.A1306T	EVPL_ENST00000586740.1_Missense_Mutation_p.A1328T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1306	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCACCTTGGCCCGCTCGCGC	0.672000													59	155					0	0	0.003610	0	0
NVL	4931	broad.mit.edu	37	1	224437954	224437954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:224437954G>A	ENST00000281701.6	-	19	2508	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	NVL_ENST00000482491.1_Missense_Mutation_p.P474L|NVL_ENST00000361463.3_3'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.P561L|NVL_ENST00000469075.1_Missense_Mutation_p.P659L|NVL_ENST00000391875.2_Missense_Mutation_p.P644L	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	750						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATCTGCAGGGGGCGGTAAACC	0.398000													43	105					0	0	0.003610	0	0
MAN2B1	4125	broad.mit.edu	37	19	12759129	12759129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:12759129G>A	ENST00000456935.2	-	21	2564	c.2524C>T	c.(2524-2526)Cac>Tac	p.H842Y	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.P28L|MAN2B1_ENST00000221363.4_Missense_Mutation_p.H841Y	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	842					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCAGGTGGCGCCCTCGC	0.706000													9	25					0	0	0.000978	0	0
MUC2	4583	broad.mit.edu	37	11	1104206	1104206	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:1104206C>T	ENST00000441003.2	+	49	8424	c.8397C>T	c.(8395-8397)ctC>ctT	p.L2799L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5161						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCTGCGGGCTCCCCACCGGCA	0.701000													5	19					0	0	0.001168	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137845	63137845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:63137845C>T	ENST00000279178.3	+	1	566	c.317C>T	c.(316-318)cCc>cTc	p.P106L	SLC22A9_ENST00000310969.4_Missense_Mutation_p.P106L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	106					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGGACCTTCCCCAACACAAGT	0.522000													27	56					0	0	0.008361	0	0
WDR72	256764	broad.mit.edu	37	15	54025336	54025336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:54025336G>A	ENST00000396328.1	-	2	250	c.11C>T	c.(10-12)tCc>tTc	p.S4F	WDR72_ENST00000559418.1_Missense_Mutation_p.S4F|WDR72_ENST00000360509.5_Missense_Mutation_p.S4F|WDR72_ENST00000557913.1_Missense_Mutation_p.S4F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	4										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCCTGCAGGGAAGTCCTCAT	0.473000													18	73					0	0	0.007413	0	0
COL4A4	1286	broad.mit.edu	37	2	227954611	227954611	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:227954611C>T	ENST00000396625.3	-	21	1639	c.1432G>A	c.(1432-1434)Gga>Aga	p.G478R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G478R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	478	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTCCTCCTGGGGGACCA	0.488000													13	38					0	0	0.003163	0	0
SV2A	9900	broad.mit.edu	37	1	149884876	149884876	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:149884876C>A	ENST00000369146.3	-	2	1007	c.517G>T	c.(517-519)Ggt>Tgt	p.G173C	SV2A_ENST00000369145.1_Missense_Mutation_p.G173C	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	173					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCGCCAGACCAAGCACAAAA	0.562000													48	45					1.21353e-23	2.53214e-23	0.003610	1	0
CSPP1	79848	broad.mit.edu	37	8	68007610	68007610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68007610C>T	ENST00000262210.5	+	6	624	c.593C>T	c.(592-594)tCa>tTa	p.S198L	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	233						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTGAAAATTCAGAGGGTCCT	0.378000													32	71					0	0	0.002096	0	0
DNAH7	56171	broad.mit.edu	37	2	196673509	196673509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:196673509G>A	ENST00000312428.6	-	53	10080	c.9980C>T	c.(9979-9981)tCc>tTc	p.S3327F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3327					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCATCCCAGGATTTCTGAGG	0.393000													20	53					0	0	0.007413	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694828	48694828	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:48694828G>A	ENST00000236495.5	+	4	443	c.393G>A	c.(391-393)ggG>ggA	p.G131G	RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Silent_p.G131G|SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ggtcacacgggaggactgggg	0.542000													44	119					0	0	0.003214	0	0
HR	55806	broad.mit.edu	37	8	21986139	21986139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:21986139G>A	ENST00000381418.4	-	2	2025	c.545C>T	c.(544-546)aCc>aTc	p.T182I	HR_ENST00000312841.8_Missense_Mutation_p.T182I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	182							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGTGCGGGGTCAGGGGCCA	0.642000													10	15					0	0	0.000978	0	0
ASB15	142685	broad.mit.edu	37	7	123254628	123254628	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:123254628C>T	ENST00000451558.1	+	6	593	c.72C>T	c.(70-72)tcC>tcT	p.S24S	ASB15_ENST00000434204.1_Silent_p.S24S|RP11-390E23.3_ENST00000440504.1_RNA|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000540573.1_Silent_p.S24S|ASB15_ENST00000275699.3_Silent_p.S24S|ASB15_ENST00000451215.1_Silent_p.S24S			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	24					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCAAGAATCCATTGAAGCCA	0.348000													91	223					0	0	0.003610	0	0
CFB	629	broad.mit.edu	37	6	31907014	31907014	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31907014C>G	ENST00000556679.1	+	6	732	c.677C>G	c.(676-678)tCc>tGc	p.S226C	CFB_ENST00000456570.1_Missense_Mutation_p.S226C|C2_ENST00000469372.1_Missense_Mutation_p.S133C|CFB_ENST00000477310.1_Missense_Mutation_p.S197C|C2_ENST00000452323.2_Missense_Mutation_p.S165C|C2_ENST00000299367.5_Missense_Mutation_p.S379C|C2_ENST00000442278.2_Missense_Mutation_p.S247C			P00751	CFAB_HUMAN	complement factor B	392					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTAGGAAAGTCCAATATGGGT	0.468000													101	312					0	0	0.003610	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734072	28734072	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:28734072G>A	ENST00000550043.1	+	0	477																											GAGAAGGAAGGAAGTTGAAAG	0.438000													28	60					0	0	0.004656	0	0
CACNA1D	776	broad.mit.edu	37	3	53778782	53778782	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:53778782C>T	ENST00000288139.3	+	24	3112	c.2994C>T	c.(2992-2994)tcC>tcT	p.S998S	CACNA1D_ENST00000422281.2_Silent_p.S978S|CACNA1D_ENST00000350061.5_Silent_p.S978S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	978					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGCCATCTCCGTTGTGAAGA	0.517000													32	56					0	0	0.004878	0	0
TCF20	6942	broad.mit.edu	37	22	42608208	42608208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:42608208G>A	ENST00000359486.3	-	1	3240	c.3104C>T	c.(3103-3105)cCa>cTa	p.P1035L	TCF20_ENST00000335626.4_Missense_Mutation_p.P1035L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1035					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTCATGTGTGGATTCATGTG	0.502000													15	41					0	0	0.006122	0	0
ALPK2	115701	broad.mit.edu	37	18	56202578	56202578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:56202578G>A	ENST00000361673.3	-	5	5054	c.4841C>T	c.(4840-4842)cCt>cTt	p.P1614L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1614							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTCCTTCAGGAGATGAAGT	0.443000													49	52					0	0	0.003610	0	0
ZNF786	136051	broad.mit.edu	37	7	148769495	148769495	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:148769495G>A	ENST00000316286.9	-	3	383	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ZNF786_ENST00000491431.1_Silent_p.S123S|ZNF786_ENST00000451334.3_Silent_p.S86S			Q8N393	ZN786_HUMAN	zinc finger protein 786	123	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S122S(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGATCCAAAGGAACACTGGC	0.507000													10	25					0	0	0.006214	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318261	30318261	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:30318261C>T	ENST00000375377.1	-	3	917	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	272	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGAATTCCTCGTGGAGTCCA	0.527000													23	50					0	0	0.002299	0	0
LRFN5	145581	broad.mit.edu	37	14	42360717	42360717	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42360717C>T	ENST00000298119.4	+	4	2839	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	550						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTGATGATCCGGTATAAGG	0.403000										HNSCC(30;0.082)			29	72					0	0	0.005443	0	0
OR10K2	391107	broad.mit.edu	37	1	158389728	158389728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158389728G>A	ENST00000314902.2	-	1	928	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S310F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTACAACAGGGAAATTGTTCT	0.388000													15	52					0	0	0.003163	0	0
PSG5	5673	broad.mit.edu	37	19	43683254	43683254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43683254C>T	ENST00000599812.1	-	3	581	c.486G>A	c.(484-486)atG>atA	p.M162I	PSG5_ENST00000407356.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	162	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCACAGCCTCCATGGCCTCCC	0.522000													54	58					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477153	110477153	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110477153G>A	ENST00000378402.5	+	49	8196	c.8092G>A	c.(8092-8094)Gaa>Aaa	p.E2698K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2698					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGTGGGGTGAAACCAATGG	0.478000										HNSCC(38;0.096)			42	86					0	0	0.002852	0	0
CTBS	1486	broad.mit.edu	37	1	85020879	85020879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:85020879G>A	ENST00000370630.4	-	7	1009	c.961C>T	c.(961-963)Cct>Tct	p.P321S	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	321						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TGGCCAGCAGGATCCTATATA	0.343000													6	27					0	0	0.001168	0	0
ING4	51147	broad.mit.edu	37	12	6761506	6761506	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:6761506G>A	ENST00000341550.4	-	6	622	c.576C>T	c.(574-576)ccC>ccT	p.P192P	ING4_ENST00000412586.2_Silent_p.P190P|ING4_ENST00000486287.1_Intron|ING4_ENST00000446105.2_Silent_p.P189P|ING4_ENST00000423703.2_Intron|ING4_ENST00000444704.2_Silent_p.P169P|ING4_ENST00000396807.4_Silent_p.P193P			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	193					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TGGGTTCGTTGGGATCCACAG	0.512000													40	74					0	0	0.002222	0	0
MYLIP	29116	broad.mit.edu	37	6	16145341	16145341	+	Silent	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:16145341A>T	ENST00000349606.4	+	5	1002	c.498A>T	c.(496-498)tcA>tcT	p.S166S	MYLIP_ENST00000356840.3_Silent_p.S347S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	347	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)			AGAGCCCTTCACACTCGCCTC	0.542000													52	136					0	0	0.003610	0	0
DBF4	10926	broad.mit.edu	37	7	87537077	87537077	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:87537077C>G	ENST00000265728.1	+	12	2128	c.1624C>G	c.(1624-1626)Cac>Gac	p.H542D		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	542					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTCACAAGAGCACCTAACTGT	0.388000													33	75					0	0	0.004878	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:26793000G>A	ENST00000541819.2	-	10	1632	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_ENST00000299267.4_Silent_p.I454I|GABRB3_ENST00000311550.5_Silent_p.I454I|GABRB3_ENST00000400188.3_Silent_p.I383I|GABRB3_ENST00000545868.1_Silent_p.I369I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGAAACACGATCCTGGACC	0.398000													25	55					0	0	0.003954	0	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158687447G>A	ENST00000368146.1	-	1	506	c.507C>T	c.(505-507)ttC>ttT	p.F169F	OR6K3_ENST00000368145.1_Silent_p.F153F			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000													26	109					0	0	0.004656	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148789	62148789	+	Silent	SNP	C	C	T	rs146457934		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:62148789C>T	ENST00000416284.3	-	3	1707	c.123G>A	c.(121-123)acG>acA	p.T41T	FAM19A2_ENST00000551619.1_Silent_p.T41T|FAM19A2_ENST00000550003.1_5'UTR|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	41						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CACAAGTTCCCGTTTTAACAT	0.443000													14	10					0	0	0.004007	0	0
PDE1A	5136	broad.mit.edu	37	2	183050711	183050711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:183050711G>A	ENST00000435564.1	-	13	1672	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	PDE1A_ENST00000346717.4_Missense_Mutation_p.S457F|PDE1A_ENST00000331935.6_Missense_Mutation_p.S491F|PDE1A_ENST00000536095.1_Missense_Mutation_p.S387F|PDE1A_ENST00000409365.1_Missense_Mutation_p.S475F|PDE1A_ENST00000410103.1_Missense_Mutation_p.S491F|PDE1A_ENST00000351439.5_Missense_Mutation_p.S475F|PDE1A_ENST00000358139.2_Missense_Mutation_p.S491F|PDE1A_ENST00000456212.1_Missense_Mutation_p.S491F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	491	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGCTGCAAGGGAGTAGTCTGG	0.468000													19	55					0	0	0.001523	0	0
SMARCC1	6599	broad.mit.edu	37	3	47747945	47747945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:47747945G>A	ENST00000254480.5	-	10	1113	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	332	Poly-Pro.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTCGGAGGGGGAGGCGAAGGC	0.458000													18	29					0	0	0.007413	0	0
DVL1	1855	broad.mit.edu	37	1	1275529	1275529	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:1275529G>A	ENST00000378888.5	-	8	1082	c.798C>T	c.(796-798)atC>atT	p.I266I	DVL1_ENST00000378891.5_Silent_p.I266I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	266	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGCCCCACGATGCTGATGC	0.667000													17	42					0	0	0.004990	0	0
DST	667	broad.mit.edu	37	6	56473633	56473633	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:56473633T>A	ENST00000370754.5	-	39	5693	c.5694A>T	c.(5692-5694)ttA>ttT	p.L1898F	DST_ENST00000361203.3_Missense_Mutation_p.L1720F|DST_ENST00000446842.2_Missense_Mutation_p.L1394F|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.L1720F|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.L1720F			Q03001	DYST_HUMAN	dystonin	1720					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCATATCTATTAAAGAAACCT	0.378000													18	25					0	0	0.006122	0	0
F2	2147	broad.mit.edu	37	11	46748309	46748309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:46748309C>T	ENST00000311907.5	+	9	1108	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I	F2_ENST00000530231.1_Missense_Mutation_p.T351I	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	351					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GAGGACAAAACCGAAAGAGAG	0.607000													32	61					0	0	0.002096	0	0
SEPT4	5414	broad.mit.edu	37	17	56598977	56598977	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56598977T>G	ENST00000457347.2	-	9	1135	c.991A>C	c.(991-993)Aag>Cag	p.K331Q	SEPT4_ENST00000580844.1_Missense_Mutation_p.K217Q|SEPT4_ENST00000580809.1_3'UTR|SEPT4_ENST00000393086.1_Missense_Mutation_p.K297Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.K169Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.K217Q|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_Missense_Mutation_p.K308Q|SEPT4_ENST00000317256.6_Missense_Mutation_p.K297Q|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000317268.3_Missense_Mutation_p.K316Q	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	316					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATAGATCTTGATTCCAAAA	0.517000													63	102					0	0	0.003610	0	0
KCNAB1	7881	broad.mit.edu	37	3	156139422	156139422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:156139422G>A	ENST00000302490.8	+	2	1110	c.239G>A	c.(238-240)gGa>gAa	p.G80E	KCNAB1_ENST00000389634.5_Missense_Mutation_p.G80E|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G98E|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G87E|KCNAB1_ENST00000490337.1_Missense_Mutation_p.G98E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	98						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAAAATCAGGACTCAGAGTT	0.473000													50	119					0	0	0.003610	0	0
MYLK3	91807	broad.mit.edu	37	16	46744694	46744694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:46744694C>T	ENST00000394809.4	-	11	2237	c.2122G>A	c.(2122-2124)Ggc>Agc	p.G708S	MYLK3_ENST00000536476.1_Missense_Mutation_p.G367S|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	708	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGGGACAAGCCACTGAGTCTA	0.463000													60	82					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152192045	152192045	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152192045C>T	ENST00000368801.2	-	3	2135	c.2060G>A	c.(2059-2061)aGc>aAc	p.S687N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	687					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATTGCTTGAAGACCA	0.582000													55	177					0	0	0.003610	0	0
VWA8	23078	broad.mit.edu	37	13	42161676	42161676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:42161676G>A	ENST00000379310.3	-	42	5311	c.5243C>T	c.(5242-5244)gCc>gTc	p.A1748V		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GTTCTCGAAGGCTTCCATGAC	0.478000													28	49					0	0	0.003271	0	0
WDR48	57599	broad.mit.edu	37	3	39129711	39129711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:39129711C>T	ENST00000302313.5	+	15	1595	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	WDR48_ENST00000396258.3_Missense_Mutation_p.R441C|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R248C	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	523					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCTGGAGGTCGCACACTGTT	0.458000													14	79					0	0	0.003163	0	0
EIF3A	8661	broad.mit.edu	37	10	120801507	120801507	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:120801507T>C	ENST00000369144.3	-	19	3652	c.3526_splice	c.e19+1	p.P1175_splice	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Splice_Site_p.P1141_splice	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1175	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GAATTTTACCTGGCTTGACTA	0.408000													15	49					0	0	0.006122	0	0
COLEC12	81035	broad.mit.edu	37	18	357415	357415	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:357415T>G	ENST00000400256.3	-	3	373	c.166A>C	c.(166-168)Att>Ctt	p.I56L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	56					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TATCCCAAAATGGCTACTGTG	0.318000													24	45					0	0	0.002780	0	0
LRRC55	219527	broad.mit.edu	37	11	56949692	56949692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56949692G>A	ENST00000497933.1	+	1	472	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	79						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGCCAATGGACACCCGAAA	0.607000													15	20					0	0	0.002450	0	0
ADAM18	8749	broad.mit.edu	37	8	39535009	39535009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39535009G>A	ENST00000265707.5	+	15	1630	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ADAM18_ENST00000379866.1_Missense_Mutation_p.E505K|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	529	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGAAAGATCTGAAAACTGTGG	0.303000													15	43					0	0	0.006122	0	0
TLN1	7094	broad.mit.edu	37	9	35705814	35705814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:35705814G>A	ENST00000314888.9	-	42	5899	c.5546C>T	c.(5545-5547)tCc>tTc	p.S1849F	TLN1_ENST00000540444.1_Missense_Mutation_p.S1783F|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1849	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCACGAAGGAACCTTCTGG	0.552000													56	44					0	0	0.003610	0	0
AMPD3	272	broad.mit.edu	37	11	10518445	10518445	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:10518445A>G	ENST00000444303.2	+	9	1512	c.1040A>G	c.(1039-1041)aAc>aGc	p.N347S	AMPD3_ENST00000396554.3_Missense_Mutation_p.N515S	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	506					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCCACTATCAACCCCCAAGAT	0.507000													42	89					0	0	0.002222	0	0
BGN	633	broad.mit.edu	37	X	152772362	152772362	+	Missense_Mutation	SNP	C	C	T	rs142437366		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:152772362C>T	ENST00000331595.4	+	6	937	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	BGN_ENST00000370204.1_Missense_Mutation_p.R190C|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	251						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCTGCTTCGCTACTCCAA	0.622000													39	13					0	0	0.004878	0	0
OBSCN	84033	broad.mit.edu	37	1	228479650	228479650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:228479650G>A	ENST00000570156.2	+	44	11752	c.11678G>A	c.(11677-11679)gGg>gAg	p.G3893E	OBSCN_ENST00000284548.11_Missense_Mutation_p.G3464E|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2311E|OBSCN_ENST00000366707.4_Missense_Mutation_p.G583E|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3464E|OBSCN_ENST00000366709.4_Missense_Mutation_p.G583E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2930	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGTGGAAGGGGCCACAGCC	0.592000													6	21					0	0	0.001984	0	0
DYNAP	284254	broad.mit.edu	37	18	52258483	52258483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:52258483G>A	ENST00000321600.1	+	1	94	c.48G>A	c.(46-48)tgG>tgA	p.W16*	DYNAP_ENST00000585973.1_Nonsense_Mutation_p.W19*	NM_173629.1	NP_775900.1			dynactin associated protein																		AATATTCTTGGAGAGAAGCTT	0.398000													41	78					0	0	0.006230	0	0
XDH	7498	broad.mit.edu	37	2	31606681	31606681	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31606681G>A	ENST00000379416.3	-	10	874	c.826C>T	c.(826-828)Cct>Tct	p.P276S	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	276	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAATCATAGGAAACAGCATA	0.493000													14	33					0	0	0.002450	0	0
DIDO1	11083	broad.mit.edu	37	20	61512940	61512940	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:61512940G>A	ENST00000266070.4	-	16	4693	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	DIDO1_ENST00000395343.1_Silent_p.S1456S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1456					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCTCTCCACGGAGTTCCTTC	0.582000													47	66					0	0	0.003610	0	0
ANGPT1	284	broad.mit.edu	37	8	108264223	108264223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:108264223C>T	ENST00000520734.1	-	8	1042	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G252S			Q15389	ANGP1_HUMAN	angiopoietin 1	453					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTGGAGGGGCCACAAGCATCA	0.383000													36	84					0	0	0.005524	0	0
ZNF626	199777	broad.mit.edu	37	19	20807665	20807665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20807665G>A	ENST00000601440.1	-	4	1164	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTGTAGGGTTTGTCTTCA	0.368000													29	55					0	0	0.006320	0	0
DCLK3	85443	broad.mit.edu	37	3	36759525	36759525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36759525G>A	ENST00000416516.2	-	4	2219	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	577	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCAGTAAGGGGGGAGGAAC	0.542000													46	183					0	0	0.002852	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845883	130845883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:130845883G>A	ENST00000245255.3	+	15	2096	c.1824G>A	c.(1822-1824)atG>atA	p.M608I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	608	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCCTACAGATGAACTGCAAGA	0.463000													27	30					0	0	0.008361	0	0
SCAI	286205	broad.mit.edu	37	9	127791959	127791959	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:127791959A>G	ENST00000336505.5	-	4	348	c.290T>C	c.(289-291)gTt>gCt	p.V97A	SCAI_ENST00000373549.4_Missense_Mutation_p.V120A	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	97	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTGGTGTAAACATCAAAAGT	0.343000													31	15					0	0	0.005524	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751659	73751659	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73751659G>A	ENST00000342056.2	+	3	888	c.489_splice	c.e3-1	p.E164_splice	KCNQ5_ENST00000370392.1_Splice_Site_p.E164_splice|KCNQ5_ENST00000414165.2_Splice_Site_p.E164_splice|KCNQ5_ENST00000402622.2_Splice_Site_p.E164_splice|KCNQ5_ENST00000355194.4_Splice_Site_p.E164_splice|KCNQ5_ENST00000370398.1_Splice_Site_p.E164_splice|KCNQ5_ENST00000355635.3_Splice_Site_p.E164_splice|KCNQ5_ENST00000403813.2_Splice_Site_p.E164_splice	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	164					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATATTTTAGGAGTTCGTGAT	0.403000													77	162					0	0	0.003610	0	0
CES5A	221223	broad.mit.edu	37	16	55903644	55903644	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55903644A>G	ENST00000521992.1	-	5	662	c.517T>C	c.(517-519)Ttc>Ctc	p.F173L	CES5A_ENST00000319165.9_Missense_Mutation_p.F144L|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_Missense_Mutation_p.F38L|CES5A_ENST00000290567.9_Missense_Mutation_p.F144L|CES5A_ENST00000520435.1_Missense_Mutation_p.F114L	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	144						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCTCCTGGGAACCACACCAAG	0.592000													5	6					0	0	0.000602	0	0
OR8H3	390152	broad.mit.edu	37	11	55890316	55890316	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55890316C>T	ENST00000313472.3	+	1	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTATGGACTCCTTTGTCAATG	0.443000													60	85					0	0	0.003610	0	0
CIITA	4261	broad.mit.edu	37	16	11000825	11000825	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:11000825C>T	ENST00000324288.8	+	11	1609	c.1476C>T	c.(1474-1476)gaC>gaT	p.D492D	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	492	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGAGACCTGACCGCGTTCTGC	0.642000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								36	98					0	0	0.004878	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621279	65621279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:65621279G>A	ENST00000327987.4	-	14	2664	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	805										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTAACCCGGGCCGCTGCA	0.677000													25	38					0	0	0.004656	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627031	108627031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:108627031G>A	ENST00000393963.3	-	4	507	c.508C>T	c.(508-510)Caa>Taa	p.Q170*	GUCA1C_ENST00000261047.3_Silent_p.I156I			O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	0					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CCATGCCATTGATAAATTCTT	0.393000													16	32					0	0	0.006122	0	0
KRT19	3880	broad.mit.edu	37	17	39680764	39680764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39680764C>T	ENST00000361566.3	-	4	749	c.689G>A	c.(688-690)gGa>gAa	p.G230E		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GACCTGGCCTCCCACTTGGCC	0.597000													37	87					0	0	0.006230	0	0
PDE6B	5158	broad.mit.edu	37	4	657610	657610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:657610C>T	ENST00000255622.6	+	16	2015	c.1972C>T	c.(1972-1974)Cac>Tac	p.H658Y	PDE6B_ENST00000496514.1_Missense_Mutation_p.H658Y|PDE6B_ENST00000429163.2_Missense_Mutation_p.H379Y	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	658					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCACGTGATCCACCTGATGGA	0.682000													8	16					0	0	0.006214	0	0
RHBDF1	64285	broad.mit.edu	37	16	113728	113728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:113728G>A	ENST00000262316.6	-	4	461	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R107C	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	107					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R107C(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGCAGTGACGGATGCTCTTG	0.657000													22	36					0	0	0.002780	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	G	A	rs147186440		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115527431G>A	ENST00000369522.3	+	30	2885	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_ENST00000477590.1_Intron|SYCP1_ENST00000369518.1_Missense_Mutation_p.R882K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000													40	78					0	0	0.002852	0	0
WAS	7454	broad.mit.edu	37	X	48546477	48546477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:48546477G>A	ENST00000376701.4	+	8	844	c.769G>A	c.(769-771)Gga>Aga	p.G257R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	257					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCCCAGAATGGATTTGACGT	0.552000			"""Mis, N, F, S"""			lymphoma							9	7					0	0	0.006214	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132123	121132123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121132123G>A	ENST00000273666.6	+	25	3410	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.E1023K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1047					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTCTCCTACTGAAATTCAGCG	0.383000													25	37					0	0	0.003954	0	0
LCE2D	353141	broad.mit.edu	37	1	152636901	152636901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152636901G>A	ENST00000368784.1	+	2	375	c.320G>A	c.(319-321)gGg>gAg	p.G107E		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	107	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCTGGGGGCTGCTGC	0.592000													34	93					0	0	0.003271	0	0
CES5A	221223	broad.mit.edu	37	16	55907910	55907910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55907910C>T	ENST00000521992.1	-	3	345	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CES5A_ENST00000319165.9_Missense_Mutation_p.G38E|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.G38E|CES5A_ENST00000520435.1_Missense_Mutation_p.G38E	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	38						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGAATCCATCCCAGCCTGGT	0.632000													5	19					0	0	0.000602	0	0
ZNF766	90321	broad.mit.edu	37	19	52794150	52794150	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52794150C>A	ENST00000439461.1	+	4	1149	c.1106C>A	c.(1105-1107)tCc>tAc	p.S369Y	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.S384Y|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.S384Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CACAAGTTCTCCCTGACAGTT	0.403000													9	18					3.09899e-07	6.407e-07	0.004482	1	0
CTSS	1520	broad.mit.edu	37	1	150724357	150724357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150724357C>T	ENST00000368985.3	-	5	787	c.527G>A	c.(526-528)gGa>gAa	p.G176E	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Missense_Mutation_p.G126E	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	176					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTTTGTTTCCATATTTTTC	0.498000													49	154					0	0	0.003610	0	0
NYAP2	57624	broad.mit.edu	37	2	226378312	226378312	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:226378312C>T	ENST00000272907.6	+	3	860	c.447C>T	c.(445-447)acC>acT	p.T149T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	149																	ACCCCAGCACCAAGCTGAGCA	0.572000													14	30					0	0	0.002450	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837205	18837205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:18837205G>A	ENST00000447925.2	-	14	1863	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	PLCZ1_ENST00000534932.1_Missense_Mutation_p.P15S|PLCZ1_ENST00000539875.1_Missense_Mutation_p.P341S|PLCZ1_ENST00000435379.1_Missense_Mutation_p.P339S|PLCZ1_ENST00000266505.7_Missense_Mutation_p.P534S|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.P316S	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	534	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCATCTTGGACTAAAAGCT	0.284000													31	81					0	0	0.003755	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560703	160560703	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:160560703C>T	ENST00000366963.4	+	7	1227	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	SLC22A1_ENST00000457470.2_Silent_p.L360L|SLC22A1_ENST00000324965.4_Silent_p.L360L	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	360						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACTCTGTGCTCTATCAGGGGC	0.522000													18	30					0	0	0.001882	0	0
CYP11B2	1585	broad.mit.edu	37	8	143998537	143998537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:143998537C>T	ENST00000323110.2	-	2	335	c.333G>A	c.(331-333)atG>atA	p.M111I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	111					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCCAGGATCATCCTGCAGG	0.592000									Familial Hyperaldosteronism type I				18	49					0	0	0.004990	0	0
ZNF136	7695	broad.mit.edu	37	19	12297654	12297654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:12297654C>T	ENST00000343979.4	+	4	601	c.461C>T	c.(460-462)tCc>tTc	p.S154F	ZNF136_ENST00000398616.2_Missense_Mutation_p.S88F	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	154					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCTCACCACTCCTTTCGAACA	0.393000													12	35					0	0	0.001368	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:132290506C>T	ENST00000295171.6	+	6	1084	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CCDC74A_ENST00000409856.3_Missense_Mutation_p.P250S|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGT	0.647000													14	99					0	0	0.004990	0	0
AREL1	9870	broad.mit.edu	37	14	75139618	75139618	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75139618G>A	ENST00000356357.4	-	11	1853	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GCTCTCGCTGGAAAAAGTTCA	0.473000													36	52					0	0	0.004289	0	0
POLA2	23649	broad.mit.edu	37	11	65046208	65046208	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:65046208C>G	ENST00000265465.3	+	6	1000	c.469C>G	c.(469-471)Ccc>Gcc	p.P157A	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	157	Pro/Ser/Thr-rich.				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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TAGTGCTACTCCCTCCCAGAA	0.448000													53	108					0	0	0.003610	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931603	144931603	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:144931603C>G	ENST00000529945.1	-	1	545	c.106G>C	c.(106-108)Gtc>Ctc	p.V36L	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.V36L|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCCCAAGACGTGCGAAAGC	0.547000			T	PDGFRB	MPD								7	69					0	0	0.001984	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265946	3265946	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:3265946C>T	ENST00000576468.1	+	0	418																											TGGACAATTTCCTCCTGGCTG	0.512000													26	31					0	0	0.003330	0	0
PHF12	57649	broad.mit.edu	37	17	27244350	27244350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:27244350G>A	ENST00000577226.1	-	7	1433	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	PHF12_ENST00000332830.4_Missense_Mutation_p.P363S|PHF12_ENST00000268756.3_Missense_Mutation_p.P363S|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	363	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CGGTTAGGGGGGTGCTTCTTG	0.532000													37	92					0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179639084	179639084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179639084C>T	ENST00000589042.1	-	30	7131	c.6907G>A	c.(6907-6909)Gat>Aat	p.D2303N	TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D2303N|TTN_ENST00000342175.6_Missense_Mutation_p.D2257N|TTN_ENST00000460472.2_Missense_Mutation_p.D2257N|TTN_ENST00000360870.5_Missense_Mutation_p.D2303N|TTN_ENST00000359218.5_Missense_Mutation_p.D2257N|TTN_ENST00000342992.6_Missense_Mutation_p.D2303N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2015	Ig-like 12.						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)			AGCTCCACATCATTATGATAC	0.398000													31	90					0	0	0.002836	0	0
ABCA3	21	broad.mit.edu	37	16	2333205	2333205	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2333205G>A	ENST00000301732.5	-	26	4717	c.4017C>T	c.(4015-4017)ctC>ctT	p.L1339L	ABCA3_ENST00000382381.3_Silent_p.L1281L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1339					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCCTCCTCCGGAGGGCGCAGA	0.657000													13	28					0	0	0.001855	0	0
PID1	55022	broad.mit.edu	37	2	229890500	229890500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:229890500C>T	ENST00000392054.3	-	4	934	c.595G>A	c.(595-597)Gag>Aag	p.E199K	PID1_ENST00000392055.3_Missense_Mutation_p.E168K|PID1_ENST00000409462.1_Missense_Mutation_p.E119K|PID1_ENST00000354069.6_Missense_Mutation_p.E201K|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	201	PID.					cytoplasm		p.E199*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCTCGCACTCCACGGCGTGG	0.587000													40	76					0	0	0.006999	0	0
DOK6	220164	broad.mit.edu	37	18	67508495	67508495	+	Missense_Mutation	SNP	C	C	T	rs76231229	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:67508495C>T	ENST00000382713.5	+	8	1062	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	291							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGGTTTGGTTCGTCAAAGATG	0.473000													37	81					0	0	0.005524	0	0
GDPD3	79153	broad.mit.edu	37	16	30119699	30119699	+	Silent	SNP	C	C	T	rs145295505	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:30119699C>T	ENST00000406256.3	-	8	1139	c.762G>A	c.(760-762)tcG>tcA	p.S254S	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	254	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CTCACCATTTCGAAACCACAG	0.567000													63	147					0	0	0.003610	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455666	21455666	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:21455666C>T	ENST00000304425.3	-	0	719					NR_027054.1																						CTTCAGATTCCCCCAGGAGAA	0.502000													5	5					0	0	0.001168	0	0
FAT4	79633	broad.mit.edu	37	4	126370046	126370046	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:126370046A>G	ENST00000394329.3	+	9	7888	c.7875A>G	c.(7873-7875)caA>caG	p.Q2625Q	FAT4_ENST00000335110.5_Silent_p.Q923Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2625	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctattagtcaacctctggatt	0.398000													11	16					0	0	0.008291	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74574885	74574885	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:74574885A>G	ENST00000225276.5	-	2	458	c.139T>C	c.(139-141)Ttt>Ctt	p.F47L	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	47					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						AATGCTTCAAATGATGTGGTG	0.502000													39	85					0	0	0.003214	0	0
SKIV2L	6499	broad.mit.edu	37	6	31926863	31926863	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31926863G>A	ENST00000375394.2	+	0	7				NELFE_ENST00000375429.3_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)							nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TCTCGGCGGGGCTGTACCGGA	0.682000													84	66					0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35406874	35406874	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:35406874C>T	ENST00000287272.2	+	2	188	c.168C>T	c.(166-168)ttC>ttT	p.F56F	UNC5D_ENST00000404895.2_Silent_p.F56F|UNC5D_ENST00000453357.2_Silent_p.F51F|UNC5D_ENST00000420357.1_Silent_p.F56F|UNC5D_ENST00000416672.1_Silent_p.F56F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	56	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCCTCATTTCATAGAGGAGC	0.483000													24	25					0	0	0.004656	0	0
NEFM	4741	broad.mit.edu	37	8	24775422	24775422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24775422C>T	ENST00000221166.5	+	3	2836	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L	NEFM_ENST00000437366.2_Missense_Mutation_p.S646L|NEFM_ENST00000433454.2_Missense_Mutation_p.S309L|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	685	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTGCCAAAATCACCAGTGgaa	0.473000													22	39					0	0	0.002299	0	0
EIF3F	8665	broad.mit.edu	37	11	8008883	8008883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:8008883C>T	ENST00000537635.1	+	1	447	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCCGCCTCCTTCTTTCTC	0.562000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	72	161					0	0	0.003610	0	0
DNAJB14	79982	broad.mit.edu	37	4	100844269	100844269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100844269C>T	ENST00000442697.2	-	3	533	c.379G>A	c.(379-381)Gct>Act	p.A127T		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	127	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTCTATAAGCTTTTTTCAAA	0.323000													11	26					0	0	0.000978	0	0
INSRR	3645	broad.mit.edu	37	1	156811546	156811546	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156811546G>A	ENST00000368195.3	-	20	3834	c.3438C>T	c.(3436-3438)taC>taT	p.Y1146Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1146	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCCTTGCGGTAATAGTCTG	0.612000													38	101					0	0	0.006999	0	0
TTLL2	83887	broad.mit.edu	37	6	167754049	167754049	+	Missense_Mutation	SNP	G	G	A	rs142290843		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:167754049G>A	ENST00000239587.5	+	3	749	c.661G>A	c.(661-663)Ggg>Agg	p.G221R		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	221	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCGTGGGAGGGGGATACTAAT	0.403000													32	32					0	0	0.002096	0	0
NYAP2	57624	broad.mit.edu	37	2	226447391	226447391	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:226447391C>T	ENST00000272907.6	+	4	1671	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	420	Pro-rich.																CCCGTCTACGCTGTACCGAAC	0.662000													7	10					0	0	0.001984	0	0
CPA6	57094	broad.mit.edu	37	8	68536449	68536449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68536449C>T	ENST00000297770.4	-	2	369	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.E52K	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	52					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCATATGCTTCCTCTTCTGTT	0.313000													14	57					0	0	0.006122	0	0
HAVCR1	26762	broad.mit.edu	37	5	156456629	156456629	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:156456629C>T	ENST00000425854.1	-	7	1708	c.1176G>A	c.(1174-1176)ctG>ctA	p.L392L	HAVCR1_ENST00000522693.1_Silent_p.L392L|HAVCR1_ENST00000523175.1_3'UTR|HAVCR1_ENST00000339252.3_3'UTR|HAVCR1_ENST00000544197.1_3'UTR			Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGAATGCCAGATGAAACT	0.398000													10	24					0	0	0.006214	0	0
P4HA3	283208	broad.mit.edu	37	11	73988184	73988184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:73988184C>T	ENST00000331597.4	-	9	1226	c.1181G>A	c.(1180-1182)tGg>tAg	p.W394*	P4HA3_ENST00000427714.2_Nonsense_Mutation_p.W394*	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	394						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTCCTTCAGCCAGGCACTAAA	0.463000													19	84					0	0	0.001882	0	0
SIN3B	23309	broad.mit.edu	37	19	16974519	16974519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:16974519C>T	ENST00000379803.1	+	11	1405	c.1391C>T	c.(1390-1392)cCt>cTt	p.P464L	SIN3B_ENST00000595541.1_Missense_Mutation_p.P22L|SIN3B_ENST00000248054.5_Missense_Mutation_p.P432L	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	464	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCTCCTTCCCTTCCTGGTCT	0.567000													31	64					0	0	0.003271	0	0
RNF25	64320	broad.mit.edu	37	2	219528914	219528914	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:219528914G>A	ENST00000295704.2	-	10	1586	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	382					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTAGGTCCATGGGCTCCTTGA	0.657000													71	124					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179599613	179599613	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179599613A>G	ENST00000589042.1	-	51	15262	c.15038T>C	c.(15037-15039)gTt>gCt	p.V5013A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V4696A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V3769A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4696	Ig-like 30.						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)			AAACCAAGTAACCTGGATCAC	0.413000													15	30					0	0	0.002450	0	0
KSR2	283455	broad.mit.edu	37	12	118198935	118198935	+	Silent	SNP	C	C	T	rs35601697		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:118198935C>T	ENST00000425217.1	-	4	834	c.780G>A	c.(778-780)ggG>ggA	p.G260G	KSR2_ENST00000339824.5_Silent_p.G289G	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	289	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGTGGGGTCCCCGGGGGCT	0.677000													106	103					0	0	0.003610	0	0
FLNB	2317	broad.mit.edu	37	3	58154232	58154232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:58154232G>A	ENST00000295956.4	+	44	7429	c.7264G>A	c.(7264-7266)Gaa>Aaa	p.E2422K	FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.E2381K|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.E2229K|FLNB_ENST00000358537.3_Missense_Mutation_p.E2398K|FLNB_ENST00000490882.1_Missense_Mutation_p.E2453K|FLNB_ENST00000419752.2_Missense_Mutation_p.E2242K|FLNB_ENST00000429972.2_Missense_Mutation_p.E2411K	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2422	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTCACCATCGAAGGCCCATC	0.478000													16	43					0	0	0.004007	0	0
TANC1	85461	broad.mit.edu	37	2	160076291	160076291	+	Silent	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:160076291G>T	ENST00000263635.6	+	22	3828	c.3591G>T	c.(3589-3591)ctG>ctT	p.L1197L	TANC1_ENST00000454300.1_Silent_p.L1091L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1197						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCAGTATCTGGTTGAAGAAG	0.527000													22	58					1.87028e-06	3.85914e-06	0.001882	1	0
OR2G2	81470	broad.mit.edu	37	1	247751954	247751954	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247751954G>T	ENST00000320065.1	+	1	293	c.293G>T	c.(292-294)gGt>gTt	p.G98V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATCGCCTATGGTGGCTGTTTG	0.542000													34	74					5.8336e-16	1.21322e-15	0.003271	1	0
MYB	4602	broad.mit.edu	37	6	135513631	135513631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:135513631C>T	ENST00000341911.5	+	6	896	c.697C>T	c.(697-699)Cct>Tct	p.P233S	MYB_ENST00000533624.1_Missense_Mutation_p.P233S|MYB_ENST00000534121.1_Missense_Mutation_p.P233S|MYB_ENST00000534044.1_Missense_Mutation_p.P233S|MYB_ENST00000528774.1_Missense_Mutation_p.P233S|MYB_ENST00000442647.2_Missense_Mutation_p.P233S|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000420123.2_Missense_Mutation_p.P209S|MYB_ENST00000367814.4_Missense_Mutation_p.P233S|MYB_ENST00000316528.8_Missense_Mutation_p.P233S|MYB_ENST00000527615.1_Missense_Mutation_p.P233S|MYB_ENST00000525369.1_Missense_Mutation_p.P233S	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	233					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCTCAACTCCCTGCCACTGG	0.483000			T	NFIB	adenoid cystic carcinoma								36	57					0	0	0.007835	0	0
SIM1	6492	broad.mit.edu	37	6	100838545	100838545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:100838545G>A	ENST00000369208.3	-	12	2775	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	SIM1_ENST00000262901.4_Missense_Mutation_p.R665C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	665	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGAAATGCGATCCGAATTG	0.458000													7	130					0	0	0.001984	0	0
PPIG	9360	broad.mit.edu	37	2	170460737	170460737	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:170460737C>T	ENST00000260970.3	+	4	322	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PPIG_ENST00000462903.1_Silent_p.P34P|PPIG_ENST00000448752.2_Silent_p.P34P|PPIG_ENST00000409714.3_Silent_p.P34P	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	34	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATGTGTGCCCCAAAACATGCG	0.363000													25	82					0	0	0.004656	0	0
RALYL	138046	broad.mit.edu	37	8	85800011	85800011	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:85800011G>A	ENST00000521268.1	+	8	1963	c.858_splice	c.e8+1	p.L286_splice	RALYL_ENST00000523850.1_Splice_Site_p.L213_splice|RALYL_ENST00000521695.1_Splice_Site_p.L286_splice|RALYL_ENST00000517638.1_Splice_Site_p.L299_splice|RALYL_ENST00000518566.1_Splice_Site_p.L275_splice|RALYL_ENST00000522455.1_Splice_Site_p.L286_splice|RALYL_ENST00000521376.1_Intron	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	286							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCATGAGCTGGTAGGAAAGA	0.448000													33	81					0	0	0.002836	0	0
ZNF423	23090	broad.mit.edu	37	16	49764751	49764751	+	Missense_Mutation	SNP	C	C	T	rs149531360		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:49764751C>T	ENST00000561648.1	-	3	261	c.208G>A	c.(208-210)Gat>Aat	p.D70N	ZNF423_ENST00000262383.2_Missense_Mutation_p.D70N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D10N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D10N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D10N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	70					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D70Y(2)|p.D70N(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGACAGTGATCGCAGGTGTAA	0.542000													67	120					0	0	0.003610	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448441	49448441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:49448441G>A	ENST00000374201.3	-	6	964	c.662C>T	c.(661-663)cCa>cTa	p.P221L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P197L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P190L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	221					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGTGCCGCTGGGCTCTCGCT	0.587000													16	24					0	0	0.004007	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756999	56756999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56756999G>A	ENST00000326855.2	+	1	653	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTCTTTGTGGGATCTAACTTG	0.408000													63	88					0	0	0.003610	0	0
DEAF1	10522	broad.mit.edu	37	11	679729	679729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:679729G>A	ENST00000382409.3	-	8	1569	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	DEAF1_ENST00000338675.6_Missense_Mutation_p.S273L|DEAF1_ENST00000525904.1_5'UTR	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	362					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CGGACTCTCTGATATGACAGC	0.627000													21	38					0	0	0.001523	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017576	101017576	+	Silent	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:101017576A>T	ENST00000537247.1	+	10	1635	c.681A>T	c.(679-681)tcA>tcT	p.S227S	GAS2L3_ENST00000266754.5_Silent_p.S331S|GAS2L3_ENST00000547754.1_Silent_p.S331S|GAS2L3_ENST00000539410.1_Silent_p.S331S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	331	GAR.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AACAAAATTCAAAACCCAGCG	0.443000													16	20					0	0	0.006122	0	0
ARNT	405	broad.mit.edu	37	1	150830871	150830871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150830871G>A	ENST00000358595.5	-	2	291	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	ARNT_ENST00000515192.1_Nonsense_Mutation_p.Q22*|ARNT_ENST00000354396.2_Nonsense_Mutation_p.Q31*|ARNT_ENST00000505755.1_Nonsense_Mutation_p.Q31*	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	31					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCACCTTGAATTCCAGGT	0.423000			T	ETV6	AML								16	40					0	0	0.004007	0	0
CCSER1	401145	broad.mit.edu	37	4	91701608	91701608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:91701608G>A	ENST00000432775.2	+	8	2380	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	CCSER1_ENST00000509176.1_Intron|CCSER1_ENST00000504150.1_3'UTR|CCSER1_ENST00000333691.8_Intron	NM_207491.2	NP_997374.1			coiled-coil serine-rich protein 1																		ATACCCTAGGGAATTCTGAAA	0.348000													9	18					0	0	0.004482	0	0
SATB1	6304	broad.mit.edu	37	3	18391023	18391023	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:18391023T>G	ENST00000338745.6	-	11	3665	c.1931A>C	c.(1930-1932)aAg>aCg	p.K644T	SATB1_ENST00000417717.2_Missense_Mutation_p.K676T|SATB1_ENST00000454909.2_Missense_Mutation_p.K644T|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	644					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGCCGGGTCTTCTGTCGGTT	0.587000													35	105					0	0	0.004878	0	0
NSUN2	54888	broad.mit.edu	37	5	6611115	6611115	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:6611115G>A	ENST00000264670.6	-	11	1490	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	NSUN2_ENST00000539938.1_Silent_p.F157F|NSUN2_ENST00000506139.1_Silent_p.F358F	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	393						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTTCGGAGGGAACATGGTAG	0.592000													26	53					0	0	0.005443	0	0
CD19	930	broad.mit.edu	37	16	28946799	28946799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:28946799G>A	ENST00000538922.1	+	5	932	c.870G>A	c.(868-870)tgG>tgA	p.W290*	CD19_ENST00000567541.1_Nonsense_Mutation_p.W290*|CD19_ENST00000324662.3_Nonsense_Mutation_p.W290*	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	290					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTGGTGGCTGGAAGGTCTCAG	0.542000													19	50					0	0	0.004656	0	0
LINC00639	283547	broad.mit.edu	37	14	39304827	39304827	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:39304827C>T	ENST00000553932.1	-	0	3735																											CGTGTTCATTCCTTTTCAGAG	0.493000													4	16					0	0	0.000602	0	0
CACNA1E	777	broad.mit.edu	37	1	181724502	181724502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181724502G>A	ENST00000526775.1	+	27	4066	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1301N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1271N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D927N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1252N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1320N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1320N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1320					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTATTGCACGGACAGTTCCAA	0.458000													58	205					0	0	0.003610	0	0
LDHB	3945	broad.mit.edu	37	12	21807540	21807540	+	Silent	SNP	A	A	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21807540A>G	ENST00000396076.1	-	2	398	c.66T>C	c.(64-66)aaT>aaC	p.N22N	LDHB_ENST00000350669.1_Silent_p.N22N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	22					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CAGTGATCTTATTGTTTGGAA	0.418000													28	68					0	0	0.007291	0	0
TEAD4	7004	broad.mit.edu	37	12	3129850	3129850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:3129850C>T	ENST00000359864.2	+	9	824	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	TEAD4_ENST00000358409.2_Missense_Mutation_p.P169S|TEAD4_ENST00000397122.2_Missense_Mutation_p.P83S	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	212					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCCCCCGGCACCCCCATGGCA	0.662000													27	40					0	0	0.004656	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544336	89544336	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:89544336G>A	ENST00000468494.1	-	0	317																											TTTTCAGTGTGAAATCAGTGC	0.522000													30	69					0	0	0.003610	0	0
FEZF2	55079	broad.mit.edu	37	3	62357802	62357802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:62357802C>T	ENST00000283268.3	-	2	1036	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	FEZF2_ENST00000475839.1_Missense_Mutation_p.E248K|FEZF2_ENST00000486811.1_Missense_Mutation_p.E248K	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	248					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCCGAGTTTTCCTTCAGTACC	0.657000													6	9					0	0	0.001984	0	0
RNF148	378925	broad.mit.edu	37	7	122342428	122342428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:122342428C>T	ENST00000434824.1	-	1	593	c.377G>A	c.(376-378)gGg>gAg	p.G126E	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	126	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GATGATCACCCCATTTGCTCC	0.488000													81	219					0	0	0.003610	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495396	20495396	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:20495396C>T	ENST00000555186.1	+	0	599					NR_038836.1																						GTTTCAAGATCTTCTGTGTGA	0.413000													11	179					0	0	0.001368	0	0
FILIP1	27145	broad.mit.edu	37	6	76022716	76022716	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:76022716G>A	ENST00000393004.2	-	5	3053	c.2832C>T	c.(2830-2832)acC>acT	p.T944T	FILIP1_ENST00000370020.1_Silent_p.T845T|FILIP1_ENST00000237172.7_Silent_p.T944T|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	944										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATTCCCTAAGGTAGGAATGA	0.423000													46	105					0	0	0.003610	0	0
OR3A1	4994	broad.mit.edu	37	17	3195211	3195211	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:3195211G>A	ENST00000323404.1	-	1	665	c.666C>T	c.(664-666)atC>atT	p.I222I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGCCACGTGGATATAGGAGA	0.522000													19	23					0	0	0.008871	0	0
TBX10	347853	broad.mit.edu	37	11	67402535	67402535	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:67402535C>T	ENST00000335385.3	-	2	294	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	69					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GCTTCATCTCCAGCTGAACTG	0.637000													21	32					0	0	0.002780	0	0
ADAM7	8756	broad.mit.edu	37	8	24324458	24324458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24324458C>T	ENST00000175238.6	+	6	619	c.536C>T	c.(535-537)aCt>aTt	p.T179I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.T179I|ADAM7_ENST00000441335.2_Missense_Mutation_p.T179I	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	179					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCAGAAAAACTGTTCCAGGG	0.348000													41	80					0	0	0.007835	0	0
OR51G2	81282	broad.mit.edu	37	11	4936436	4936436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4936436G>A	ENST00000322013.3	-	1	486	c.458C>T	c.(457-459)tCt>tTt	p.S153F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGACCCAGAGAGACCAGGCC	0.473000													13	22					0	0	0.001368	0	0
FABP12	646486	broad.mit.edu	37	8	82441671	82441671	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:82441671A>C	ENST00000360464.4	-	2	309		c.e2+1		RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12								lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CGTAGGCCTCACCTTTGTTTT	0.373000													43	118					0	0	0.003610	0	0
LRFN2	57497	broad.mit.edu	37	6	40400163	40400163	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:40400163G>A	ENST00000338305.6	-	2	1232	c.690C>T	c.(688-690)ccC>ccT	p.P230P		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	230						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGGGCAAAGGGTGTGGCTG	0.587000													22	74					0	0	0.001523	0	0
OR5K4	403278	broad.mit.edu	37	3	98073564	98073564	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98073564G>A	ENST00000354924.2	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTTATAGTCTGAGAAATAAGG	0.264000													72	189					0	0	0.003610	0	0
ZNF90	7643	broad.mit.edu	37	19	20228868	20228868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20228868G>A	ENST00000418063.2	+	4	617	c.505G>A	c.(505-507)Gga>Aga	p.G169R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	169						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAGAGATACTGGAAAAAAACC	0.343000													6	11					0	0	0.003080	0	0
CORIN	10699	broad.mit.edu	37	4	47602343	47602343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:47602343C>T	ENST00000273857.4	-	21	2833	c.2834G>A	c.(2833-2835)gGa>gAa	p.G945E	CORIN_ENST00000508498.1_Missense_Mutation_p.G806E|CORIN_ENST00000505909.1_Missense_Mutation_p.G908E|CORIN_ENST00000502252.1_Missense_Mutation_p.G878E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	945	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCGGACCTCTCCCTCTTGCAG	0.393000													20	54					0	0	0.001523	0	0
MFSD6	54842	broad.mit.edu	37	2	191302285	191302285	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:191302285C>T	ENST00000392328.1	+	3	1854	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	MFSD6_ENST00000281416.7_Silent_p.I510I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	510					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCGGCCACATCAGGTAAGAAC	0.383000													28	55					0	0	0.005443	0	0
OR5K3	403277	broad.mit.edu	37	3	98110314	98110314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98110314G>A	ENST00000383695.1	+	1	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AGGGGATAAAGATATACCTGT	0.299000													12	39					0	0	0.001368	0	0
DDHD1	80821	broad.mit.edu	37	14	53513666	53513666	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:53513666C>T	ENST00000357758.3	-	12	2622	c.2437_splice	c.e12-1	p.L813_splice	DDHD1_ENST00000395606.1_Splice_Site_p.L820_splice|DDHD1_ENST00000323669.5_Splice_Site_p.V841_splice	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	841	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GATCCAACTCCACTAAAAAGA	0.363000													7	15					0	0	0.003080	0	0
ADAM23	8745	broad.mit.edu	37	2	207432007	207432007	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:207432007G>A	ENST00000264377.3	+	15	1783	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	ADAM23_ENST00000374416.1_Silent_p.Q485Q|ADAM23_ENST00000374415.3_Silent_p.Q485Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	485	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACTTTTTACAGAGAGGAGGTG	0.363000													31	63					0	0	0.003271	0	0
HYDIN	54768	broad.mit.edu	37	16	70986461	70986461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70986461C>T	ENST00000393567.2	-	41	6544	c.6394G>A	c.(6394-6396)Gag>Aag	p.E2132K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2132								p.E2083K(2)|p.E2131K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGTCATCTCGGAGGCTAAC	0.537000													14	30					0	0	0.006122	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240802	60240802	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:60240802C>T	ENST00000400324.4	-	28	3718	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	DIAPH3_ENST00000400320.1_Silent_p.K1120K|DIAPH3_ENST00000400319.1_Silent_p.K1096K|DIAPH3_ENST00000377908.2_Silent_p.K1155K|DIAPH3_ENST00000400330.1_Silent_p.K1166K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1166					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTTCCGTTTCCTTTTTTCTGT	0.398000													42	59					0	0	0.008740	0	0
DSC2	1824	broad.mit.edu	37	18	28649056	28649056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:28649056G>A	ENST00000280904.6	-	15	2755	c.2312C>T	c.(2311-2313)aCc>aTc	p.T771I	DSC2_ENST00000251081.6_Missense_Mutation_p.T771I	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	771					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGATCCCACGGTGCCACAAAC	0.512000													20	54					0	0	0.001523	0	0
CPNE1	8904	broad.mit.edu	37	20	34220572	34220572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34220572G>A	ENST00000317619.3	-	5	570	c.176C>T	c.(175-177)tCc>tTc	p.S59F	CPNE1_ENST00000397443.1_Missense_Mutation_p.S59F|CPNE1_ENST00000397442.1_Missense_Mutation_p.S59F|CPNE1_ENST00000397446.1_Missense_Mutation_p.S59F|CPNE1_ENST00000397445.1_Missense_Mutation_p.S59F|CPNE1_ENST00000352393.4_Missense_Mutation_p.S59F|CPNE1_ENST00000317677.5_Missense_Mutation_p.S64F			Q99829	CPNE1_HUMAN	copine I	59	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TAGAGTCTTGGAGAACTCAGG	0.532000													40	74					0	0	0.006230	0	0
ALOX5	240	broad.mit.edu	37	10	45938623	45938623	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45938623C>T	ENST00000374391.2	+	10	1463	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	ALOX5_ENST00000542434.1_Silent_p.F470F|ALOX5_ENST00000493336.1_3'UTR	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	470	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCTACTACTTCTACCGGGACG	0.652000													81	164					0	0	0.003610	0	0
PARK2	5071	broad.mit.edu	37	6	162622218	162622218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:162622218C>T	ENST00000366898.1	-	4	581	c.479G>A	c.(478-480)gGa>gAa	p.G160E	PARK2_ENST00000366897.1_Missense_Mutation_p.G160E|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.G160E	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	160					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTGAGTTTTCCCGGCTGCAC	0.483000													5	56					0	0	0.000602	0	0
UNC13C	440279	broad.mit.edu	37	15	54307470	54307470	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:54307470G>A	ENST00000545554.1	+	1	2370	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	UNC13C_ENST00000260323.11_Silent_p.K790K|UNC13C_ENST00000537900.1_Silent_p.K790K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	790					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCTGATAAGACTTTCAGCT	0.433000													9	16					0	0	0.004482	0	0
ACKR2	1238	broad.mit.edu	37	3	42906432	42906432	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:42906432C>T	ENST00000422265.1	+	3	613	c.438C>T	c.(436-438)atC>atT	p.I146I	CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.I146I|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Silent_p.I146I	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		ACCTGGAGATCGTTCATGCTC	0.507000													60	106					0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43820992	43820992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:43820992C>T	ENST00000382031.1	+	5	8066	c.8035C>T	c.(8035-8037)Cct>Tct	p.P2679S	MAP1A_ENST00000300231.5_Missense_Mutation_p.P2441S|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2441S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2441						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACTGAGCCTCGGCCCCA	0.647000													17	38					0	0	0.006122	0	0
RTDR1	27156	broad.mit.edu	37	22	23401895	23401895	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:23401895C>T	ENST00000216036.4	-	7	988	c.790_splice	c.e7-1	p.G264_splice		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	264							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCGCATACTTCCCTGCAGGCC	0.632000													25	67					0	0	0.005443	0	0
ANKEF1	63926	broad.mit.edu	37	20	10032475	10032475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:10032475G>A	ENST00000378380.3	+	7	2137	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R603K|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GAAAGCTGCAGACTGGATACA	0.358000													18	29					0	0	0.001523	0	0
NFXL1	152518	broad.mit.edu	37	4	47887673	47887673	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:47887673G>A	ENST00000507489.1	-	14	1842	c.1664_splice	c.e14-1	p.R556_splice	NFXL1_ENST00000381538.3_Splice_Site_p.R556_splice|NFXL1_ENST00000329043.3_Splice_Site_p.R556_splice	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	556						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GTTGGTGGTCGACTAAATCAT	0.318000													21	42					0	0	0.002299	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190023	233190023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:233190023C>T	ENST00000258229.8	-	25	4576	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K	PCNXL2_ENST00000344698.2_Missense_Mutation_p.E100K	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1448						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTCGGAATTCCAGTCCTCGA	0.383000													13	29					0	0	0.002450	0	0
NYAP1	222950	broad.mit.edu	37	7	100087120	100087120	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100087120G>C	ENST00000423930.1	+	4	1935	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	NYAP1_ENST00000454988.1_Missense_Mutation_p.E535D|NYAP1_ENST00000300179.2_Missense_Mutation_p.E592D			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	592																	AGCTGCAGGAGCAAGGGACCG	0.642000													26	54					0	0	0.005443	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935127	73935127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73935127G>A	ENST00000423730.3	-	4	748	c.313C>T	c.(313-315)Ccg>Tcg	p.P105S	KHDC1L_ENST00000471312.1_5'UTR|KHDC1L_ENST00000370388.3_Missense_Mutation_p.A2V																							CGTTCCCACGGCCATGCTGTG	0.532000													6	10					0	0	0.001168	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515792	47515792	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47515792C>T	ENST00000371901.3	+	12	1726	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	CYP4X1_ENST00000538609.1_Silent_p.I491I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	492						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCATTTTATCCTCAAGCCCA	0.418000													44	86					0	0	0.003610	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157129	26157129	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:26157129C>T	ENST00000325250.1	+	2	214	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	9							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGAGTAAGCTCCGTGCCCGTG	0.542000													7	5					0	0	0.003080	0	0
CD1B	910	broad.mit.edu	37	1	158300601	158300601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158300601C>T	ENST00000368168.3	-	2	420	c.313G>A	c.(313-315)Gat>Aat	p.D105N		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	105					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATCTGGAAATCACCGGCAAAG	0.433000													100	282					0	0	0.003610	0	0
POF1B	79983	broad.mit.edu	37	X	84622755	84622755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:84622755G>A	ENST00000262753.4	-	3	444	c.299C>T	c.(298-300)aCt>aTt	p.T100I	POF1B_ENST00000373145.3_Missense_Mutation_p.T100I	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	100							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATTTTTAAAGTTGGAGAATG	0.289000													26	10					0	0	0.004656	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669124	44669124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:44669124C>T	ENST00000454036.1	+	7	870	c.794C>T	c.(793-795)gCc>gTc	p.A265V	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Missense_Mutation_p.A242V|SLC12A5_ENST00000372315.1_Missense_Mutation_p.A242V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	265					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCTGCATGGCCACTGTGGTG	0.547000													17	35					0	0	0.006122	0	0
RUSC1	23623	broad.mit.edu	37	1	155298061	155298061	+	Silent	SNP	C	C	T	rs141042910	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:155298061C>T	ENST00000368352.5	+	9	2686	c.2535C>T	c.(2533-2535)acC>acT	p.T845T	RUSC1_ENST00000368347.4_Silent_p.T435T|RUSC1_ENST00000368349.4_Silent_p.T376T|RUSC1_ENST00000292254.4_Silent_p.T376T|RUSC1_ENST00000368354.3_Silent_p.T739T|RUSC1_ENST00000462780.1_3'UTR	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	845	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGTGCAAACCCATAGGTAAG	0.527000													26	73					0	0	0.007291	0	0
CNGA4	1262	broad.mit.edu	37	11	6265409	6265409	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6265409C>T	ENST00000379936.2	+	6	1613	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	500					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACGAGGCCTAGACCAGCA	0.557000													31	57					0	0	0.001786	0	0
LOXL2	4017	broad.mit.edu	37	8	23225654	23225654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:23225654G>A	ENST00000389131.3	-	2	580	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	71	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R71W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACCCGGCCCTCGCTG	0.657000													24	66					0	0	0.004656	0	0
FAM126B	285172	broad.mit.edu	37	2	201862171	201862171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:201862171G>A	ENST00000418596.2	-	8	810	c.623C>T	c.(622-624)tCc>tTc	p.S208F	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	208						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTCTCACCTGGAACCCATCCG	0.353000													38	45					0	0	0.008740	0	0
FLT3	2322	broad.mit.edu	37	13	28622425	28622425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:28622425C>T	ENST00000380982.4	-	9	1273	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	FLT3_ENST00000537084.1_Missense_Mutation_p.D398N|FLT3_ENST00000241453.7_Missense_Mutation_p.D398N			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	398					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATCCGTTATCAAGACCCTTT	0.403000			"""Mis, O"""		"""AML, ALL"""								41	98					0	0	0.003610	0	0
INTS9	55756	broad.mit.edu	37	8	28633369	28633369	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:28633369G>A	ENST00000416984.2	-	13	1766	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	INTS9_ENST00000397363.4_Silent_p.I384I|INTS9_ENST00000521777.1_Silent_p.I466I|INTS9_ENST00000521022.1_Silent_p.I490I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	490					snRNA processing	integrator complex	protein binding	p.I490I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGGCAGTCGATCATGAGGT	0.612000													26	36					0	0	0.001786	0	0
IL7R	3575	broad.mit.edu	37	5	35871172	35871172	+	Missense_Mutation	SNP	C	C	T	rs104893894		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35871172C>T	ENST00000303115.3	+	4	523	c.394C>T	c.(394-396)Cct>Tct	p.P132S	IL7R_ENST00000506850.1_Missense_Mutation_p.P132S|IL7R_ENST00000343305.4_Missense_Mutation_p.P132S	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	132	Fibronectin type-III.		P -> S (in T(-)/B(+)/NK(+) SCID).		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCTGAGGCTCCTTTTGACCT	0.358000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						31	54					0	0	0.005524	0	0
LRBA	987	broad.mit.edu	37	4	151749390	151749390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:151749390G>A	ENST00000535741.1	-	30	5586	c.5113C>T	c.(5113-5115)Ctt>Ttt	p.L1705F	LRBA_ENST00000507224.1_Missense_Mutation_p.L1705F|LRBA_ENST00000357115.3_Missense_Mutation_p.L1705F|LRBA_ENST00000510413.1_Missense_Mutation_p.L1705F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1705						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGGCTCCAAGGCAGGCTGGT	0.448000													46	99					0	0	0.003610	0	0
C8A	731	broad.mit.edu	37	1	57347274	57347274	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57347274G>A	ENST00000361249.3	+	5	717	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	207	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATACTTTCGGAAACCCTACA	0.498000													21	43					0	0	0.002780	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963438	73963438	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73963438C>T	ENST00000373468.1	-	3	1605	c.954G>A	c.(952-954)caG>caA	p.Q318Q	KIAA2022_ENST00000055682.5_Silent_p.Q318Q			Q5QGS0	K2022_HUMAN	KIAA2022	318					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAACATTGTCCTGAAAGGATT	0.413000													39	11					0	0	0.005524	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:92150271C>T	ENST00000256343.3	-	11	1037	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	294					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCACAGTTTTCCTTTCACATA	0.254000													30	73					0	0	0.007291	0	0
ROBO2	6092	broad.mit.edu	37	3	77629185	77629185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:77629185C>T	ENST00000461745.1	+	16	3316	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S	ROBO2_ENST00000487694.3_Missense_Mutation_p.P822S|ROBO2_ENST00000332191.8_Missense_Mutation_p.P806S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	806	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATTATTCCCAGGTATTCA	0.438000													40	79					0	0	0.007835	0	0
CRELD1	78987	broad.mit.edu	37	3	9984504	9984504	+	Silent	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:9984504T>C	ENST00000383811.3	+	7	1340	c.741T>C	c.(739-741)gaT>gaC	p.D247D	CRELD1_ENST00000397170.3_Silent_p.D247D|CRELD1_ENST00000326434.5_Silent_p.D247D|CRELD1_ENST00000452070.1_Silent_p.D247D|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	247					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGACATTGATGAGTGTGGCA	0.522000													33	97					0	0	0.006230	0	0
APBA2	321	broad.mit.edu	37	15	29346358	29346358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:29346358C>T	ENST00000558402.1	+	5	870	c.271C>T	c.(271-273)Cct>Tct	p.P91S	APBA2_ENST00000558259.1_Missense_Mutation_p.P91S|APBA2_ENST00000561069.1_Missense_Mutation_p.P91S|APBA2_ENST00000411764.1_Missense_Mutation_p.P91S|APBA2_ENST00000558330.1_Missense_Mutation_p.P91S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	91					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGGGCCTCCCTGAGGAGGA	0.607000													37	139					0	0	0.002222	0	0
PSG11	5680	broad.mit.edu	37	19	43519301	43519301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43519301C>T	ENST00000401740.1	-	4	1034	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG11_ENST00000403486.1_Missense_Mutation_p.E189K|PSG11_ENST00000306322.7_Missense_Mutation_p.E189K|PSG11_ENST00000320078.7_Missense_Mutation_p.E311K			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	311	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGGAGCTTTCCTCGCCAGTG	0.463000													46	39					0	0	0.003610	0	0
FKBP11	51303	broad.mit.edu	37	12	49318397	49318397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49318397G>A	ENST00000550765.1	-	3	628	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FKBP11_ENST00000444214.2_5'UTR|ARF3_ENST00000398092.4_Intron|FKBP11_ENST00000552878.1_Missense_Mutation_p.S77F|FKBP11_ENST00000453172.2_Missense_Mutation_p.S77F|CCDC65_ENST00000266984.5_Intron|AC073610.5_ENST00000537495.1_Intron	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	77	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						TCTGGTCAGGGAGGTGTCAAT	0.542000											OREG0021773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	53					0	0	0.007291	0	0
COL4A1	1282	broad.mit.edu	37	13	110850973	110850973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:110850973G>A	ENST00000375820.4	-	21	1247	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	COL4A1_ENST00000543140.1_Missense_Mutation_p.P376S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	376	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGTACAGGGAGGCCTGCA	0.517000													33	46					0	0	0.005524	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857612	9857612	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:9857612C>T	ENST00000396573.2	-	14	4098	c.3789G>A	c.(3787-3789)ggG>ggA	p.G1263G	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.G1263G|GRIN2A_ENST00000330684.3_Silent_p.G1263G|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1263					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACCTGCTCCCCGGTGGCTG	0.527000													23	36					0	0	0.002299	0	0
MAFG	4097	broad.mit.edu	37	17	79880485	79880485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:79880485G>A	ENST00000357736.4	-	3	700	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MAFG_ENST00000392366.3_Missense_Mutation_p.S162L	NM_002359.3|NM_032711.3	NP_002350.1|NP_116100.2	O15525	MAFG_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G	162					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGTCCCTACGATCGGGCATC	0.652000													8	18					0	0	0.006214	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757739	99757739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99757739G>A	ENST00000360039.4	-	4	1665	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R425C|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R363C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	425					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAAGGGGCGGAACCGGCGA	0.577000													26	76					0	0	0.004656	0	0
CD86	942	broad.mit.edu	37	3	121825089	121825089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121825089G>A	ENST00000330540.2	+	4	561	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.E67K|CD86_ENST00000393627.2_Missense_Mutation_p.E143K|CD86_ENST00000493101.1_Missense_Mutation_p.E37K	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	149					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAATATAACAGAAAATGTGTA	0.333000													13	21					0	0	0.001855	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490887	141490887	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141490887C>T	ENST00000247883.4	+	1	871	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	242					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CCTTCTCCATCACCTCCAAGA	0.517000													58	119					0	0	0.003610	0	0
CCDC147	159686	broad.mit.edu	37	10	106163510	106163510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:106163510G>A	ENST00000369704.3	+	14	2197	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	688										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CACATGCAAAGAGAATTGTTG	0.438000													9	16					0	0	0.004482	0	0
WDR7	23335	broad.mit.edu	37	18	54444026	54444026	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:54444026C>T	ENST00000254442.3	+	17	3073	c.2862C>T	c.(2860-2862)gtC>gtT	p.V954V	WDR7_ENST00000357574.3_Intron|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	954										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTGCACCTGTCGTTTCCGCTC	0.423000													101	324					0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17434970	17434970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:17434970G>A	ENST00000302539.4	-	20	2574	c.2449C>T	c.(2449-2451)Cat>Tat	p.H817Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.H816Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	816	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCTCCATGGGGCAGGATG	0.577000													140	316					0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38628984	38628984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38628984C>T	ENST00000413689.1	-	15	2536	c.2343G>A	c.(2341-2343)tgG>tgA	p.W781*	SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W781*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W781*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W781*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W781*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W781*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W781*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W781*|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W781*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W781*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	781					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAAGATGTTCCAGCCCTGTT	0.547000													9	50					0	0	0.008291	0	0
MYOM2	9172	broad.mit.edu	37	8	2092846	2092846	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2092846C>T	ENST00000262113.4	+	37	4480	c.4339C>T	c.(4339-4341)Ccg>Tcg	p.P1447S	MYOM2_ENST00000523438.1_Missense_Mutation_p.P872S|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1447					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACATGGCCCCGCCCCAGCA	0.572000													21	33					0	0	0.001882	0	0
HKDC1	80201	broad.mit.edu	37	10	71021050	71021050	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:71021050G>A	ENST00000354624.5	+	16	2505	c.2372_splice	c.e16+1	p.S791_splice	HKDC1_ENST00000395086.2_Splice_Site_p.R791_splice	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	791					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATCGAAAGGTGACCTGTG	0.517000													12	25					0	0	0.002450	0	0
ASB18	401036	broad.mit.edu	37	2	237150083	237150083	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:237150083C>T	ENST00000330842.6	-	1	175	c.81G>A	c.(79-81)ggG>ggA	p.G27G	ASB18_ENST00000409749.3_Intron|AC079135.1_ENST00000415226.1_RNA			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	0					intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GCACCGGGGACCCTGCTCTAG	0.542000													11	19					0	0	0.001368	0	0
CFTR	1080	broad.mit.edu	37	7	117232288	117232288	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:117232288G>A	ENST00000003084.6	+	14	2199	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	CFTR_ENST00000454343.1_Silent_p.Q628Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	689					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTTTAAACAGACTGGAGAGT	0.358000									Cystic Fibrosis				7	27					0	0	0.001984	0	0
DCDC2	51473	broad.mit.edu	37	6	24302024	24302024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24302024G>A	ENST00000378454.3	-	4	777	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	159	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GGTTTTTCTGGGGATAAGGAG	0.443000													61	104					0	0	0.003610	0	0
OR4K5	79317	broad.mit.edu	37	14	20388835	20388835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20388835C>T	ENST00000315915.4	+	1	95	c.70C>T	c.(70-72)Cag>Tag	p.Q24*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAAAAACTCCAGCTTTTCTA	0.403000													27	123					0	0	0.005443	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789439	31789439	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:31789439G>A	ENST00000396556.2	-	5	1025	c.903C>T	c.(901-903)caC>caT	p.H301H	OSBPL10_ENST00000438237.2_Silent_p.H237H|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	301					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GGCCCGCCTGGTGCACACTCT	0.607000													112	104					0	0	0.003610	0	0
CSHL1	1444	broad.mit.edu	37	17	61988101	61988101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:61988101G>A	ENST00000392824.4	-	2	255	c.194C>T	c.(193-195)gCg>gTg	p.A65V	CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	65						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CCCCTGACCCGCACCCATTCC	0.532000													75	132					0	0	0.003610	0	0
CD1A	909	broad.mit.edu	37	1	158225007	158225007	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158225007C>T	ENST00000289429.5	+	2	725	c.192C>T	c.(190-192)atC>atT	p.I64I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	64					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCAGCACCATCGTTTTCCTGT	0.483000													23	87					0	0	0.002299	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499424	39499424	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:39499424C>T	ENST00000263881.3	-	26	2297	c.1973_splice	c.e26+1	p.R658_splice	MAP4K3_ENST00000437545.1_Splice_Site_p.R574_splice|MAP4K3_ENST00000536018.1_Splice_Site_p.R211_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.R637_splice	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	658	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTACCCTTACCTTGGCAGTAT	0.353000													24	44					0	0	0.008361	0	0
IL6R	3570	broad.mit.edu	37	1	154401774	154401774	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:154401774G>A	ENST00000368485.3	+	2	625	c.188G>A	c.(187-189)aGg>aAg	p.R63K	IL6R_ENST00000344086.4_Missense_Mutation_p.R63K	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	63	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGCTCAGGAAGCCGGCT	0.632000													12	75					0	0	0.000978	0	0
LEPR	3953	broad.mit.edu	37	1	66102394	66102394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:66102394G>A	ENST00000349533.6	+	20	3379	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	LEPR_ENST00000406510.3_Missense_Mutation_p.G132E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1065					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATTGGAGGGAAATTTCCCT	0.373000													63	131					0	0	0.003610	0	0
EFCAB14	9813	broad.mit.edu	37	1	47155322	47155322	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47155322G>A	ENST00000371933.3	-	6	1708	c.732C>T	c.(730-732)atC>atT	p.I244I	EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Silent_p.I244I	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		GTGACGGAATGATCTGGTTGC	0.413000													34	76					0	0	0.005524	0	0
UNC79	57578	broad.mit.edu	37	14	93963593	93963593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:93963593C>T	ENST00000553484.1	+	7	1013	c.859C>T	c.(859-861)Cct>Tct	p.P287S	UNC79_ENST00000555664.1_Missense_Mutation_p.P287S|UNC79_ENST00000256339.4_Missense_Mutation_p.P110S|UNC79_ENST00000393151.2_Missense_Mutation_p.P287S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	287						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTAAAACCTCCTGGGGCAAT	0.498000													22	39					0	0	0.001882	0	0
CACNA1E	777	broad.mit.edu	37	1	181741317	181741317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181741317G>A	ENST00000526775.1	+	36	5197	c.5032G>A	c.(5032-5034)Gat>Aat	p.D1678N	CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1678N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1648N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1304N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1629N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1697N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1697N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1697					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCGGCACCGATCTGGCCTA	0.557000													62	150					0	0	0.003610	0	0
OR6C70	390327	broad.mit.edu	37	12	55863875	55863875	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:55863875C>T	ENST00000327335.4	-	1	47	c.48G>A	c.(46-48)acG>acA	p.T16T	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAGAATTATCCGTCAGTCCCA	0.353000													20	23					0	0	0.002780	0	0
LAMA3	3909	broad.mit.edu	37	18	21469986	21469986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21469986G>A	ENST00000313654.9	+	42	5556	c.5315G>A	c.(5314-5316)gGa>gAa	p.G1772E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1772E|LAMA3_ENST00000587184.1_Missense_Mutation_p.G163E|LAMA3_ENST00000269217.6_Missense_Mutation_p.G163E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1772	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCACCGGGATATTTCGGG	0.478000													40	80					0	0	0.002852	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504048	66504048	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:66504048C>T	ENST00000360242.5	+	2	165	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.F16F|CCDC102B_ENST00000584156.1_Silent_p.F16F|CCDC102B_ENST00000319445.6_Silent_p.F16F	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	16										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CACAGATCTTCCAGATGCAAC	0.418000													25	38					0	0	0.003330	0	0
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:13489312G>A	ENST00000341083.3	-	8	1331	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	BEND7_ENST00000378605.3_Silent_p.I357I|BEND7_ENST00000396898.2_Silent_p.I409I|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Silent_p.I396I	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	396	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383000													34	60					0	0	0.006230	0	0
FLRT2	23768	broad.mit.edu	37	14	86088912	86088912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:86088912G>A	ENST00000330753.4	+	2	1821	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E352K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	352	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCCGTCAGGGAATTAAATAT	0.542000													45	113					0	0	0.003610	0	0
BRINP1	1620	broad.mit.edu	37	9	121929737	121929737	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:121929737G>A	ENST00000265922.3	-	8	2372	c.1911C>T	c.(1909-1911)ccC>ccT	p.P637P	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		637					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ACAGGTCCACGGGGCCCTGGC	0.557000													50	51					0	0	0.003610	0	0
PIPSL	266971	broad.mit.edu	37	10	95719027	95719027	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95719027C>T	ENST00000480546.1	-	0	2270					NR_002319.2																						GCTGCTCTTCCATAAATACAC	0.582000													18	41					0	0	0.004990	0	0
ESRP1	54845	broad.mit.edu	37	8	95690597	95690597	+	Silent	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:95690597C>A	ENST00000433389.2	+	13	2008	c.1818C>A	c.(1816-1818)ccC>ccA	p.P606P	ESRP1_ENST00000358397.5_Silent_p.P602P|ESRP1_ENST00000423620.2_Silent_p.P602P|ESRP1_ENST00000454170.2_Silent_p.P606P	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	606					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGTACTATCCCAGGTAAGGCT	0.498000													9	271					0.00448238	0.00917696	0.004482	1	0
TRANK1	9881	broad.mit.edu	37	3	36873232	36873232	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36873232C>T	ENST00000429976.2	-	21	7957	c.7710G>A	c.(7708-7710)gtG>gtA	p.V2570V	TRANK1_ENST00000428977.2_Silent_p.V2020V|TRANK1_ENST00000301807.6_Silent_p.V2020V			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2570					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCGCTTCACCACCTTCAGGA	0.572000													25	83					0	0	0.004656	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515496	24515496	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24515496G>A	ENST00000357578.3	+	5	973	c.828G>A	c.(826-828)ctG>ctA	p.L276L	ALDH5A1_ENST00000546278.1_Silent_p.L188L|ALDH5A1_ENST00000348925.2_Silent_p.L289L|ALDH5A1_ENST00000491546.1_Silent_p.L248L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	276					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CTGATCCTCTGGTGTCCAAAA	0.393000													28	65					0	0	0.006320	0	0
CASP14	23581	broad.mit.edu	37	19	15166261	15166261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15166261G>A	ENST00000427043.3	+	6	849	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CASP14_ENST00000221740.1_Missense_Mutation_p.D181N	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	181					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTACCGACATGATCAGAAAGG	0.527000													29	37					0	0	0.002836	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2550412C>T	ENST00000567020.1	+	6	1568	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	TBC1D24_ENST00000434757.2_Silent_p.F482F|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Silent_p.F482F	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	482	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000													5	9					0	0	0.001168	0	0
CRP	1401	broad.mit.edu	37	1	159683504	159683504	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:159683504C>T	ENST00000255030.5	-	2	589	c.486G>A	c.(484-486)ggG>ggA	p.G162G	CRP_ENST00000368110.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368111.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368112.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	162	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAAAGTTCCCACCGAAGG	0.517000													87	262					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215914501	215914501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:215914501C>T	ENST00000272895.7	-	6	761	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	181					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGTTCTCTTCGTATATCTTC	0.313000													15	33					0	0	0.006122	0	0
FBLN2	2199	broad.mit.edu	37	3	13660510	13660510	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:13660510C>T	ENST00000404922.3	+	7	2165	c.2046C>T	c.(2044-2046)acC>acT	p.T682T	FBLN2_ENST00000492059.1_Silent_p.T682T|FBLN2_ENST00000535798.1_Silent_p.T708T|FBLN2_ENST00000295760.7_Silent_p.T682T	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	682	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCCAATACCTGCAAAGGTA	0.627000													8	18					0	0	0.004482	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895383	42895383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:42895383G>A	ENST00000399770.2	+	1	100	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	34					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGAAGTGTATGAAGATGGGCA	0.512000													56	141					0	0	0.003610	0	0
ZNF43	7594	broad.mit.edu	37	19	21990825	21990825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:21990825G>A	ENST00000594012.1	-	7	2510	c.1996C>T	c.(1996-1998)Cat>Tat	p.H666Y	ZNF43_ENST00000598381.1_Missense_Mutation_p.H666Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H672Y|ZNF43_ENST00000595461.1_Missense_Mutation_p.H666Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATTATCTTA	0.368000													13	23					0	0	0.001855	0	0
AIF1	199	broad.mit.edu	37	6	31583122	31583122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31583122G>A	ENST00000376059.3	+	1	162	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	6					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CCAAACCAGGGATTTACAGGG	0.582000													13	74					0	0	0.003163	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62817941	62817941	+	RNA	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:62817941G>A	ENST00000582986.1	-	0	557					NR_024386.1																						CTGAGTCATAGGACATGGGCT	0.547000													17	29					0	0	0.004007	0	0
DAB1	1600	broad.mit.edu	37	1	57491671	57491671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57491671C>T	ENST00000371236.2	-	10	1032	c.769G>A	c.(769-771)Gat>Aat	p.D257N	DAB1_ENST00000414851.2_Missense_Mutation_p.D239N|DAB1_ENST00000439789.2_Missense_Mutation_p.D171N|DAB1_ENST00000420954.2_Missense_Mutation_p.D255N|DAB1_ENST00000371231.1_Missense_Mutation_p.D290N|DAB1_ENST00000371234.4_Missense_Mutation_p.D257N|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	290					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAGGTTATATCAGGGGGTGTG	0.473000													56	117					0	0	0.003610	0	0
DCDC1	341019	broad.mit.edu	37	11	31312273	31312273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:31312273G>A	ENST00000597505.1	-	5	880	c.881C>T	c.(880-882)tCa>tTa	p.S294L	DCDC1_ENST00000452803.1_Missense_Mutation_p.S294L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	294					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTCGGACTGAGGTCCTCTC	0.373000													23	47					0	0	0.002780	0	0
SCN10A	6336	broad.mit.edu	37	3	38770119	38770119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38770119C>T	ENST00000449082.2	-	15	2553	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	852					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)	CACATGTTCTCAATCCACTCT	0.522000													10	36					0	0	0.006214	0	0
CYB5R4	51167	broad.mit.edu	37	6	84627757	84627757	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:84627757T>G	ENST00000369681.4	+	6	619	c.479T>G	c.(478-480)cTt>cGt	p.L160R		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	160					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ACAGATACACTTGCCAAAGAA	0.284000													4	54					0	0	0.000602	0	0
CHRNG	1146	broad.mit.edu	37	2	233410255	233410255	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:233410255G>A	ENST00000389494.3	+	12	1404	c.1383G>A	c.(1381-1383)ggG>ggA	p.G461G	CHRNG_ENST00000389492.3_Silent_p.G409G	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	461					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCCTCAGGGGAATGAGGAGT	0.622000													9	20					0	0	0.008291	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538865	23538865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:23538865C>T	ENST00000380871.4	-	2	611	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NKX3-1_ENST00000523261.1_Missense_Mutation_p.E117K	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	192					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGTGCTTCTCCAAGTCTCCC	0.537000													37	63					0	0	0.006230	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406772	148406772	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:148406772G>A	ENST00000538184.1	-	7	2052	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	SH3TC2_ENST00000515425.1_Silent_p.L841L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000394358.2_Silent_p.L726L			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	841							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCCAGGAGGTTATAGA	0.557000													93	89					0	0	0.003610	0	0
MYB	4602	broad.mit.edu	37	6	135513630	135513630	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:135513630C>T	ENST00000341911.5	+	6	895	c.696C>T	c.(694-696)ctC>ctT	p.L232L	MYB_ENST00000533624.1_Silent_p.L232L|MYB_ENST00000534121.1_Silent_p.L232L|MYB_ENST00000534044.1_Silent_p.L232L|MYB_ENST00000528774.1_Silent_p.L232L|MYB_ENST00000442647.2_Silent_p.L232L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000420123.2_Silent_p.L208L|MYB_ENST00000367814.4_Silent_p.L232L|MYB_ENST00000316528.8_Silent_p.L232L|MYB_ENST00000527615.1_Silent_p.L232L|MYB_ENST00000525369.1_Silent_p.L232L	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	232					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CAGCTCAACTCCCTGCCACTG	0.483000			T	NFIB	adenoid cystic carcinoma								37	58					0	0	0.008740	0	0
OR52N4	390072	broad.mit.edu	37	11	5776362	5776362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5776362C>T	ENST00000317254.3	+	1	440	c.392C>T	c.(391-393)cCc>cTc	p.P131L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P131H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ATCTGCTACCCCTTACGCTAT	0.493000													46	86					0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9438076	9438076	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:9438076C>T	ENST00000378501.2	+	30	2991	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L	PLCB4_ENST00000378473.3_Silent_p.L1004L|PLCB4_ENST00000334005.3_Silent_p.L992L|PLCB4_ENST00000414679.2_Silent_p.L1004L|PLCB4_ENST00000278655.4_Silent_p.L992L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.L992L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	992					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTAATTGTCTCGAAATGAAAA	0.368000													23	52					0	0	0.002780	0	0
BAGE2	85319	broad.mit.edu	37	21	11098778	11098778	+	RNA	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:11098778C>T	ENST00000470054.1	-	0	147									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aggccgccctcctaacactcc	0.632000													18	73					0	0	0.007413	0	0
ZNF32	7580	broad.mit.edu	37	10	44140198	44140198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:44140198G>A	ENST00000395797.1	-	3	310	c.122C>T	c.(121-123)tCc>tTc	p.S41F	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.S41F	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCAGCTTGAGGATCCTGTAGC	0.428000													34	84					0	0	0.004878	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860885	183860885	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:183860885A>T	ENST00000273783.3	+	12	1822	c.1700A>T	c.(1699-1701)gAg>gTg	p.E567V	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E567V	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	567	W2.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGCAAAGAGGAGAACATTTCT	0.473000													11	37					0	0	0.000978	0	0
MACC1	346389	broad.mit.edu	37	7	20199780	20199780	+	Nonsense_Mutation	SNP	C	C	T	rs140929570	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:20199780C>T	ENST00000400331.5	-	5	512	c.204G>A	c.(202-204)tgG>tgA	p.W68*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.W68*|MACC1_ENST00000332878.4_Nonsense_Mutation_p.W68*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	68					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						ACAGTTGATTCCAGAATGGAT	0.378000													27	53					0	0	0.005443	0	0
STIL	6491	broad.mit.edu	37	1	47767312	47767312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47767312G>A	ENST00000360380.3	-	6	737	c.374C>T	c.(373-375)cCa>cTa	p.P125L	STIL_ENST00000337817.5_Missense_Mutation_p.P125L|STIL_ENST00000243182.6_Missense_Mutation_p.P125L|STIL_ENST00000396221.2_Missense_Mutation_p.P125L|STIL_ENST00000371877.3_Missense_Mutation_p.P125L			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	125					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AACTTTGCATGGAATCAAAAA	0.408000													17	29					0	0	0.004007	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999479	22999479	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22999479G>A	ENST00000313077.7	+	29	3476	c.3351G>A	c.(3349-3351)ggG>ggA	p.G1117G	CYFIP1_ENST00000560848.1_Silent_p.G1117G|CYFIP1_ENST00000435939.2_Silent_p.G686G	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1117					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGCAATGGGGTCATGCATG	0.582000													16	45					0	0	0.004990	0	0
ANTXR2	118429	broad.mit.edu	37	4	80977168	80977168	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:80977168C>A	ENST00000403729.2	-	4	822		c.e4-1		ANTXR2_ENST00000346652.6_Splice_Site|ANTXR2_ENST00000307333.7_Splice_Site|ANTXR2_ENST00000404191.1_Splice_Site|ANTXR2_ENST00000295465.4_Splice_Site	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2							endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GATTTTGCCTCTGAAAATAAT	0.313000									Juvenile Hyaline Fibromatosis				6	8					3.59834e-05	7.40544e-05	0.001168	1	0
SLC9A1	6548	broad.mit.edu	37	1	27440722	27440722	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:27440722G>A	ENST00000263980.3	-	2	983	c.408C>T	c.(406-408)atC>atT	p.I136I	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.I136I	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	136					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCCCCACCACGATCAGCAGGC	0.632000													19	52					0	0	0.002299	0	0
SFTA2	389376	broad.mit.edu	37	6	30899847	30899847	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30899847G>A	ENST00000359086.3	-	1	105	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	9						extracellular region				lung(2)	2						GGGTCAAGAGGAGGACAAGGG	0.607000													10	34					0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100684479	100684479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100684479C>T	ENST00000306151.4	+	3	9846	c.9782C>T	c.(9781-9783)tCa>tTa	p.S3261L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTCCC	0.527000													111	217					0	0	0.003610	0	0
USP46	64854	broad.mit.edu	37	4	53494304	53494304	+	Silent	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:53494304G>A	ENST00000441222.2	-	3	328	c.144C>T	c.(142-144)tcC>tcT	p.S48S	USP46_ENST00000451218.2_Silent_p.S21S|USP46_ENST00000508499.1_Silent_p.S41S	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	48					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTGAAGCACGGAGTTACAGT	0.527000													11	23					0	0	0.000978	0	0
MYOM2	9172	broad.mit.edu	37	8	2048802	2048802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2048802G>A	ENST00000262113.4	+	20	2718	c.2577G>A	c.(2575-2577)tgG>tgA	p.W859*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.W284*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	859	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGAGAGTGGATCACTGTAA	0.527000													21	33					0	0	0.002299	0	0
MRC2	9902	broad.mit.edu	37	17	60757633	60757633	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:60757633G>A	ENST00000303375.5	+	15	2803	c.2401G>A	c.(2401-2403)Gac>Aac	p.D801N		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	801	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CATGCAGTGCGACACACAGCT	0.657000													12	26					0	0	0.001368	0	0
GALNT12	79695	broad.mit.edu	37	9	101594159	101594159	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:101594159C>T	ENST00000375011.3	+	4	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	279						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCGGCGGTTTCGACTGGAGGC	0.582000													10	19					0	0	0.000978	0	0
OBSCN	84033	broad.mit.edu	37	1	228459736	228459736	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:228459736G>A	ENST00000570156.2	+	20	5874	c.5800G>A	c.(5800-5802)Gcc>Acc	p.A1934T	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.A406T|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	915	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGAGGTGGCCCAAGCCCA	0.622000													22	34					0	0	0.002299	0	0
ZNF318	24149	broad.mit.edu	37	6	43305585	43305585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:43305585G>A	ENST00000361428.2	-	10	6228	c.6151C>T	c.(6151-6153)Cct>Tct	p.P2051S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2051					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACCCTATAGGTGATACAGAA	0.463000													52	49					0	0	0.003610	0	0
CD14	929	broad.mit.edu	37	5	140011761	140011761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140011761G>A	ENST00000302014.6	-	2	1437	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	CD14_ENST00000401743.2_Missense_Mutation_p.P270S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	270					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATCTCGGAGCGCTAGGG	0.647000													37	25					0	0	0.003755	0	0
DHX37	57647	broad.mit.edu	37	12	125453429	125453429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:125453429G>A	ENST00000308736.2	-	9	1375	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L	DHX37_ENST00000544745.1_Missense_Mutation_p.P213L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	426	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GACCGGCGGCGGCTTGGCGAA	0.617000													13	7					0	0	0.002450	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480552	140480552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140480552C>T	ENST00000231130.2	+	1	319	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		107	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACATTTTCAGATATTACT	0.423000													35	41					0	0	0.002836	0	0
OR52A5	390054	broad.mit.edu	37	11	5153353	5153353	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5153353T>C	ENST00000307388.1	-	1	519	c.520A>G	c.(520-522)Act>Gct	p.T174A		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGACTGTAGTTCGATAGTGT	0.443000													40	72					0	0	0.002852	0	0
FAM136A	84908	broad.mit.edu	37	2	70528059	70528059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:70528059C>T	ENST00000037869.3	-	2	219	c.141G>A	c.(139-141)atG>atA	p.M47I	FAM136A_ENST00000430566.1_Missense_Mutation_p.M154I|FAM136A_ENST00000450256.1_3'UTR	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	47						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCACCTGCTTCATGGAGGCCT	0.582000													40	74					0	0	0.007835	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428807	4428807	+	Silent	SNP	C	C	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:4428807C>T	ENST00000301280.5	+	8	1625	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	508					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCCTTCTTGAAAGACC	0.607000								Chromatin Structure					30	51					0	0	0.001786	0	0
PCGF3	10336	broad.mit.edu	37	4	738458	738458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:738458delC	ENST00000362003.5	+	8	839	c.444delC	c.(442-444)tafs	p.Y148fs	PCGF3_ENST00000521023.2_Frame_Shift_Del_p.Y114fs|PCGF3_ENST00000505655.2_Frame_Shift_Del_p.Y148fs|PCGF3_ENST00000470161.2_Frame_Shift_Del_p.Y148fs	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACAACGACTACCACCGCAGCG	0.637													2	4	---	---	---	---					
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													7	2	---	---	---	---					
ADCY2	108	broad.mit.edu	37	5	7698484	7698513	+	Splice_Site	DEL	TAAAGTAAGTGGACTGCTTAGTAAGCATTT	TAAAGTAAGTGGACTGCTTAGTAAGCATTT	-	rs142003155	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:7698484_7698513delTAAAGTAAGTGGACTGCTTAGTAAGCATTT	ENST00000338316.4	+	7	1195_1198	c.1109_splice	c.e7+1	p.369_splice	ADCY2_ENST00000537121.1_Splice_Site_p.189_splice	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	369					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGAAGCCATAAAGTAAGTGGACTGCTTAGTAAGCAttttgttatatgc	0.426													7	73	---	---	---	---					
MTERF	7978	broad.mit.edu	37	7	91503289	91503294	+	In_Frame_Del	DEL	CAGAAC	CAGAAC	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:91503289_91503294delCAGAAC	ENST00000419292.1	-	2	830_835	c.754_759delGTTCTG	c.(754-759)del	p.VL252del	MTERF_ENST00000351870.3_In_Frame_Del_p.VL272del|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000406735.2_In_Frame_Del_p.VL252del			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	272					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCACATATCAGAACCAGCAGTTCC	0.403													7	30	---	---	---	---					
MBD6	114785	broad.mit.edu	37	12	57921962	57921963	+	Frame_Shift_Ins	INS	-	-	C	rs149653628		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:57921962_57921963insC	ENST00000355673.3	+	10	2795_2796	c.2439_2440insC	c.(2437-2442)ctccccfs	p.LP813fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.LP813fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	813	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCTGTCTACCCCCCGAGAG	0.579													25	36	---	---	---	---					
TP53I13	90313	broad.mit.edu	37	17	27899858	27899875	+	In_Frame_Del	DEL	CTCGCGCCGGGTCAAGCG	CTCGCGCCGGGTCAAGCG	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:27899858_27899875delCTCGCGCCGGGTCAAGCG	ENST00000301057.7	+	7	1213_1230	c.1098_1115delCTCGCGCCGGGTCAAGCG	c.(1096-1116)ccc>cc	p.PSRRVKR366del	RP11-68I3.2_ENST00000581474.1_RNA	NM_138349.2	NP_612358.3	Q8NBR0	P5I13_HUMAN	tumor protein p53 inducible protein 13	366						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		TGCTGCAGCCCTCGCGCCGGGTCAAGCGCTCGCGCCGG	0.761													2	4	---	---	---	---					
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:5590342_5590343insC	ENST00000252542.4	-	18	2735_2736	c.2471_2472insG	c.(2470-2472)gtafs	p.V824fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688													8	26	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194881	28194883	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:28194881_28194883delGCT	ENST00000302326.4	-	1	2603_2605	c.1649_1651delAGC	c.(1648-1653)cgc>c	p.QR550del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	550	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"""AML, meningioma"""								2	4	---	---	---	---